COL1A1 collagen, type I, alpha 1 [Homo sapiens (human)] - Gene

Summary

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Official Symbol: COL1A1provided by HGNC
Official Full Name: collagen, type I, alpha 1provided by HGNC
Primary source: HGNC:2197
See related: Ensembl:ENSG00000108821; HPRD:00362; MIM:120150; Vega:OTTHUMG00000148674
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: OI4
Summary: This gene encodes the pro-alpha1 chains of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIA, Ehlers-Danlos syndrome Classical type, Caffey Disease and idiopathic osteoporosis. Reciprocal translocations between chromosomes 17 and 22, where this gene and the gene for platelet-derived growth factor beta are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans, resulting from unregulated expression of the growth factor. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]

Genomic context

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Location :: 17q21.33

Sequence :: Chromosome: 17; NC_000017.10 (48261457..48279000, complement)

See COL1A1 in Epigenomics, MapViewer

Chromosome 17 - NC_000017.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

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Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

Solid-state NMR study reveals collagen I structural modifications of amino acid side chains upon fibrillogenesis
Title: Solid-state NMR study reveals collagen I structural modifications of amino acid side chains upon fibrillogenesis.
Case Report: fusion between COL1A1 exon 31 to exon 2 of PDGFB in atrophic dermatofibrosarcoma protuberans.
Title: Atrophic dermatofibrosarcoma protuberans: report of a case demonstrated by detecting COL1A1-PDGFB rearrangement.
When cells were treated with TGF-beta under mechanical stress conditions, ETFB knockdown attenuated alpha-SMA mRNA expression to a level comparable to that observed in the absence of TGF-beta. However, no inhibitory effect on COL1A1 mRNA levels was observed.
Title: Knockdown of electron transfer flavoprotein β subunit reduced TGF-β-induced α-SMA mRNA expression but not COL1A1 in fibroblast-populated three-dimensional collagen gel cultures.
COL1A1 mRNA overexpression may play an important role in the carcinogenesis of oral squamous cell carcinoma.
Title: [Investigation of mRNA expression of collagen genes in oral squamous cell carcinoma and paired normal tissue].
Ets-1 acts as a negative regulator of COL1 production and EMT in TGFbeta1-stimulated renal cells.
Title: Inhibitory effects of the transcription factor Ets-1 on the expression of type I collagen in TGF-β1-stimulated renal epithelial cells.
the polymorphic genotypes of BGLAP, ER1, Col1A1 and CALCR are not found to be associated with osteoporosis in a single form but found to be associated in combined forms.
Title: Association between osteoporosis and polymorphisms of the bone Gla protein, estrogen receptor 1, collagen 1-A1 and calcitonin receptor genes in Turkish postmenopausal women.
High Fibrillar type I collagen matrices enhance metastasis/invasion of ovarian epithelial cancer via beta1 integrin and PTEN signals
Title: Fibrillar type I collagen matrices enhance metastasis/invasion of ovarian epithelial cancer via β1 integrin and PTEN signals.
A Brazilian family that showed variable expression of autosomal dominant osteogenesis imperfecta due to missense mutation in the COL1A1 gene was identified and characterized.
Title: Variable expressivity of osteogenesis imperfecta in a Brazilian family due to p.G1079S mutation in the COL1A1 gene.
found no evidence supporting the putative link of COL1A1 alleles with otosclerosis.
Title: No evidence for disturbed COL1A1 and A2 expression in otosclerosis.
Data indicate that ARMCX2, COL1A1, MDK, MEST and MLH1 genes acquired methylation in drug-resistant ovarian cancer-sustaining (side population) cells.
Title: Candidate DNA methylation drivers of acquired cisplatin resistance in ovarian cancer identified by methylome and expression profiling.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Ehlers-Danlos syndrome, procollagen proteinase deficient

MIM: 130060

Genetic Testing Registry

Ehlers-Danlos syndrome, type 1

MIM: 130000

Genetic Testing Registry

Summary from GeneReviews: Ehlers-Danlos Syndrome, Classic Type

Ehlers-Danlos syndrome (EDS), classic type is a connective tissue disorder characterized by skin hyperextensibility, abnormal wound healing, and joint hypermobility. It includes two previously designated subtypes (EDS type I and EDS type II) that are now recognized to form a continuum of clinical findings. The skin is smooth, velvety to the touch, and hyperelastic; i.e., it extends easily and snaps back after release (unlike lax, redundant skin, as in cutis laxa). The skin is fragile, as manifested by splitting of the dermis following relatively minor trauma, especially over pressure points (knees, elbows) and areas prone to trauma (shins, forehead, chin). Wound healing is delayed, and stretching of scars after apparently successful primary wound healing is characteristic. Complications of joint hypermobility, such as dislocations of the shoulder, patella, digits, hip, radius, and clavicle, usually resolve spontaneously or are easily managed by the affected individual. Other features include hypotonia with delayed motor development, fatigue and muscle cramps, and easy bruising. Less common findings include mitral and tricuspid valve prolapse, aortic root dilatation, and spontaneous rupture of large arteries.

Diagnosis Testing

The diagnosis of EDS, classic type is established by family history and clinical examination. Quantitative and qualitative studies of type V collagen chains are usually not useful in confirming a diagnosis. At least 50% of individuals with classic EDS have an identifiable mutation in COL5A1 or COL5A2, the genes encoding type V collagen; however, this number may be an underestimate, since no prospective molecular studies of COL5A1 and COL5A2 have been performed in a clinically well-defined group. Molecular genetic testing for these two genes is available on a clinical basis.

Genetic Counseling

EDS, classic type is inherited in an autosomal dominant manner. It is estimated that approximately 50% of affected individuals have inherited the disease-causing mutation from an affected parent, and approximately 50% of affected individuals have a de novo disease-causing mutation. Each child of an affected individual has a 50% chance of inheriting the mutation. Prenatal testing for pregnancies at increased risk may be possible for families in which the disease-causing mutation has been identified in an affected family member.

References

PMID: 20301422

Infantile cortical hyperostosis

MIM: 114000

Genetic Testing Registry

Summary from GeneReviews: Caffey Disease

Disease Characteristics

Caffey disease is characterized by massive subperiosteal new bone formation (usually involving the diaphyses of the long bones as well as the ribs, mandible, scapulae, and clavicles) typically associated with fever, joint swelling and pain in children with onset around age two months and spontaneous resolution by age two years. On rare occasion, the hyperostosis can be detected by ultrasound examination late in the third trimester of pregnancy. Limited follow-up information suggests that adults who had Caffey disease in childhood may manifest joint laxity, skin hyperextensibility, hernias, and an increased risk of bone fractures and/or deformities.

Diagnosis Testing

Radiologic findings of subperiosteal cortical hyperostosis of the diaphyses of the long bones (with sparing of the epiphyses), ribs, scapulae, clavicles, and mandible in a child age two months to five years suggest the diagnosis. The COL1A1 mutation c.3040C>T (p.Arg1014Cys; also known as p.Arg836Cys) in exon 41 is the defining mutation currently identified in all individuals with Caffey disease undergoing molecular genetic testing. Although allelic and/or locus heterogeneity are possible, neither has been observed to date.

Genetic Counseling

Caffey disease is inherited in an autosomal dominant manner. Some individuals diagnosed with Caffey disease have a parent who had Caffey disease in childhood; others have the disorder as the result of a new mutation. The proportion of cases caused by a de novo mutation is unknown. Each child of an individual who had Caffey disease in childhood has a 50% chance of inheriting the disease-causing mutation. Prenatal testing for pregnancies at increased risk is possible if the disease-causing mutation in the family has been identified.

References

PMID: 22855962

Osteogenesis imperfecta

Genetic Testing Registry

Summary from GeneReviews: COL1A1/2-Related Osteogenesis Imperfecta

Disease Characteristics

COL1A1/2-related osteogenesis imperfecta (OI) is characterized by fractures with minimal or absent trauma, variable dentinogenesis imperfecta (DI), and, in adult years, hearing loss. The clinical features of COL1A1/2-related OI represent a continuum ranging from perinatal lethality to individuals with severe skeletal deformities, mobility impairments, and very short stature to nearly asymptomatic individuals with a mild predisposition to fractures, normal dentition, normal stature, and normal life span. Fractures can occur in any bone, but are most common in the extremities. DI is characterized by grey or brown teeth that may appear translucent and wear down and break easily. COL1A1/2-related OI has been classified into four types (I, II, III, and IV) based on clinical presentation and radiographic findings. This classification system can be helpful in providing information about prognosis and management for a given individual. The four OI types are now referred to as follows: OI type I: classic non-deforming OI with blue sclerae. OI type II: perinatally lethal OI. OI type III: progressively deforming OI. OI type IV: common variable OI with normal sclerae.

Diagnosis Testing

The diagnosis of COL1A1/2-related OI is based on: Family history, a history of fractures, and characteristic physical findings; Radiographic findings (fractures of varying ages and stages of healing, wormian bones, "codfish" vertebrae, and osteopenia); and Molecular genetic testing of COL1A1 and COL1A2 and/or biochemical analysis of type 1 collagen. Biochemical testing (i.e., analysis of the structure and quantity of type I collagen synthesized in vitro by cultured dermal fibroblasts) detects abnormalities in 98% of individuals with historically classified OI type II, about 90% with OI type I, about 84% with OI type III, and about 84% with OI type IV. Molecular genetic testing of COL1A1 and COL1A2 detects abnormalities in more than 90% of individuals with historically classified OI types I, II, III, or IV.

Genetic Counseling

COL1A1/2-related OI is inherited in an autosomal dominant manner. The proportion of cases caused by a de novo COL1A1 or COL1A2 mutation varies by the severity of disease: approximately 60% of cases of classic non-deforming OI with blue sclerae or common variable OI with normal sclerae, virtually 100% of perinatally lethal OI, and close to 100% of progressively deforming OI are de novo. Gonadal mosaicism may be present in 3%-5% of cases. Each child of an individual with a dominantly inherited form of COL1A1/2-related OI has a 50% chance of inheriting the mutation and of developing some manifestations of OI. Prenatal testing in at-risk pregnancies can be performed by molecular genetic testing if the COL1A1 or COL1A2 mutation has been identified in an affected relative. Ultrasound examination performed in a center with experience in diagnosing OI can be valuable in the prenatal diagnosis of the lethal form and most severe forms prior to 20 weeks' gestation; milder forms may be detected later in pregnancy if fractures or deformities occur.

References

PMID: 20301472

Osteogenesis imperfecta type I

MIM: 166200

Genetic Testing Registry

Summary from GeneReviews: COL1A1/2-Related Osteogenesis Imperfecta

Disease Characteristics

COL1A1/2-related osteogenesis imperfecta (OI) is characterized by fractures with minimal or absent trauma, variable dentinogenesis imperfecta (DI), and, in adult years, hearing loss. The clinical features of COL1A1/2-related OI represent a continuum ranging from perinatal lethality to individuals with severe skeletal deformities, mobility impairments, and very short stature to nearly asymptomatic individuals with a mild predisposition to fractures, normal dentition, normal stature, and normal life span. Fractures can occur in any bone, but are most common in the extremities. DI is characterized by grey or brown teeth that may appear translucent and wear down and break easily. COL1A1/2-related OI has been classified into four types (I, II, III, and IV) based on clinical presentation and radiographic findings. This classification system can be helpful in providing information about prognosis and management for a given individual. The four OI types are now referred to as follows: OI type I: classic non-deforming OI with blue sclerae. OI type II: perinatally lethal OI. OI type III: progressively deforming OI. OI type IV: common variable OI with normal sclerae.

Diagnosis Testing

The diagnosis of COL1A1/2-related OI is based on: Family history, a history of fractures, and characteristic physical findings; Radiographic findings (fractures of varying ages and stages of healing, wormian bones, "codfish" vertebrae, and osteopenia); and Molecular genetic testing of COL1A1 and COL1A2 and/or biochemical analysis of type 1 collagen. Biochemical testing (i.e., analysis of the structure and quantity of type I collagen synthesized in vitro by cultured dermal fibroblasts) detects abnormalities in 98% of individuals with historically classified OI type II, about 90% with OI type I, about 84% with OI type III, and about 84% with OI type IV. Molecular genetic testing of COL1A1 and COL1A2 detects abnormalities in more than 90% of individuals with historically classified OI types I, II, III, or IV.

Genetic Counseling

COL1A1/2-related OI is inherited in an autosomal dominant manner. The proportion of cases caused by a de novo COL1A1 or COL1A2 mutation varies by the severity of disease: approximately 60% of cases of classic non-deforming OI with blue sclerae or common variable OI with normal sclerae, virtually 100% of perinatally lethal OI, and close to 100% of progressively deforming OI are de novo. Gonadal mosaicism may be present in 3%-5% of cases. Each child of an individual with a dominantly inherited form of COL1A1/2-related OI has a 50% chance of inheriting the mutation and of developing some manifestations of OI. Prenatal testing in at-risk pregnancies can be performed by molecular genetic testing if the COL1A1 or COL1A2 mutation has been identified in an affected relative. Ultrasound examination performed in a center with experience in diagnosing OI can be valuable in the prenatal diagnosis of the lethal form and most severe forms prior to 20 weeks' gestation; milder forms may be detected later in pregnancy if fractures or deformities occur.

References

PMID: 20301472

Osteogenesis imperfecta type III

MIM: 259420

Genetic Testing Registry

Summary from GeneReviews: COL1A1/2-Related Osteogenesis Imperfecta

Disease Characteristics

COL1A1/2-related osteogenesis imperfecta (OI) is characterized by fractures with minimal or absent trauma, variable dentinogenesis imperfecta (DI), and, in adult years, hearing loss. The clinical features of COL1A1/2-related OI represent a continuum ranging from perinatal lethality to individuals with severe skeletal deformities, mobility impairments, and very short stature to nearly asymptomatic individuals with a mild predisposition to fractures, normal dentition, normal stature, and normal life span. Fractures can occur in any bone, but are most common in the extremities. DI is characterized by grey or brown teeth that may appear translucent and wear down and break easily. COL1A1/2-related OI has been classified into four types (I, II, III, and IV) based on clinical presentation and radiographic findings. This classification system can be helpful in providing information about prognosis and management for a given individual. The four OI types are now referred to as follows: OI type I: classic non-deforming OI with blue sclerae. OI type II: perinatally lethal OI. OI type III: progressively deforming OI. OI type IV: common variable OI with normal sclerae.

Diagnosis Testing

The diagnosis of COL1A1/2-related OI is based on: Family history, a history of fractures, and characteristic physical findings; Radiographic findings (fractures of varying ages and stages of healing, wormian bones, "codfish" vertebrae, and osteopenia); and Molecular genetic testing of COL1A1 and COL1A2 and/or biochemical analysis of type 1 collagen. Biochemical testing (i.e., analysis of the structure and quantity of type I collagen synthesized in vitro by cultured dermal fibroblasts) detects abnormalities in 98% of individuals with historically classified OI type II, about 90% with OI type I, about 84% with OI type III, and about 84% with OI type IV. Molecular genetic testing of COL1A1 and COL1A2 detects abnormalities in more than 90% of individuals with historically classified OI types I, II, III, or IV.

Genetic Counseling

COL1A1/2-related OI is inherited in an autosomal dominant manner. The proportion of cases caused by a de novo COL1A1 or COL1A2 mutation varies by the severity of disease: approximately 60% of cases of classic non-deforming OI with blue sclerae or common variable OI with normal sclerae, virtually 100% of perinatally lethal OI, and close to 100% of progressively deforming OI are de novo. Gonadal mosaicism may be present in 3%-5% of cases. Each child of an individual with a dominantly inherited form of COL1A1/2-related OI has a 50% chance of inheriting the mutation and of developing some manifestations of OI. Prenatal testing in at-risk pregnancies can be performed by molecular genetic testing if the COL1A1 or COL1A2 mutation has been identified in an affected relative. Ultrasound examination performed in a center with experience in diagnosing OI can be valuable in the prenatal diagnosis of the lethal form and most severe forms prior to 20 weeks' gestation; milder forms may be detected later in pregnancy if fractures or deformities occur.

References

PMID: 20301472

Osteogenesis imperfecta with normal sclerae, dominant form

MIM: 166220

Genetic Testing Registry

Summary from GeneReviews: COL1A1/2-Related Osteogenesis Imperfecta

Disease Characteristics

COL1A1/2-related osteogenesis imperfecta (OI) is characterized by fractures with minimal or absent trauma, variable dentinogenesis imperfecta (DI), and, in adult years, hearing loss. The clinical features of COL1A1/2-related OI represent a continuum ranging from perinatal lethality to individuals with severe skeletal deformities, mobility impairments, and very short stature to nearly asymptomatic individuals with a mild predisposition to fractures, normal dentition, normal stature, and normal life span. Fractures can occur in any bone, but are most common in the extremities. DI is characterized by grey or brown teeth that may appear translucent and wear down and break easily. COL1A1/2-related OI has been classified into four types (I, II, III, and IV) based on clinical presentation and radiographic findings. This classification system can be helpful in providing information about prognosis and management for a given individual. The four OI types are now referred to as follows: OI type I: classic non-deforming OI with blue sclerae. OI type II: perinatally lethal OI. OI type III: progressively deforming OI. OI type IV: common variable OI with normal sclerae.

Diagnosis Testing

The diagnosis of COL1A1/2-related OI is based on: Family history, a history of fractures, and characteristic physical findings; Radiographic findings (fractures of varying ages and stages of healing, wormian bones, "codfish" vertebrae, and osteopenia); and Molecular genetic testing of COL1A1 and COL1A2 and/or biochemical analysis of type 1 collagen. Biochemical testing (i.e., analysis of the structure and quantity of type I collagen synthesized in vitro by cultured dermal fibroblasts) detects abnormalities in 98% of individuals with historically classified OI type II, about 90% with OI type I, about 84% with OI type III, and about 84% with OI type IV. Molecular genetic testing of COL1A1 and COL1A2 detects abnormalities in more than 90% of individuals with historically classified OI types I, II, III, or IV.

Genetic Counseling

COL1A1/2-related OI is inherited in an autosomal dominant manner. The proportion of cases caused by a de novo COL1A1 or COL1A2 mutation varies by the severity of disease: approximately 60% of cases of classic non-deforming OI with blue sclerae or common variable OI with normal sclerae, virtually 100% of perinatally lethal OI, and close to 100% of progressively deforming OI are de novo. Gonadal mosaicism may be present in 3%-5% of cases. Each child of an individual with a dominantly inherited form of COL1A1/2-related OI has a 50% chance of inheriting the mutation and of developing some manifestations of OI. Prenatal testing in at-risk pregnancies can be performed by molecular genetic testing if the COL1A1 or COL1A2 mutation has been identified in an affected relative. Ultrasound examination performed in a center with experience in diagnosing OI can be valuable in the prenatal diagnosis of the lethal form and most severe forms prior to 20 weeks' gestation; milder forms may be detected later in pregnancy if fractures or deformities occur.

References

PMID: 20301472

Osteogenesis imperfecta, recessive perinatal lethal

MIM: 166210

Genetic Testing Registry

Summary from GeneReviews: COL1A1/2-Related Osteogenesis Imperfecta

Disease Characteristics

COL1A1/2-related osteogenesis imperfecta (OI) is characterized by fractures with minimal or absent trauma, variable dentinogenesis imperfecta (DI), and, in adult years, hearing loss. The clinical features of COL1A1/2-related OI represent a continuum ranging from perinatal lethality to individuals with severe skeletal deformities, mobility impairments, and very short stature to nearly asymptomatic individuals with a mild predisposition to fractures, normal dentition, normal stature, and normal life span. Fractures can occur in any bone, but are most common in the extremities. DI is characterized by grey or brown teeth that may appear translucent and wear down and break easily. COL1A1/2-related OI has been classified into four types (I, II, III, and IV) based on clinical presentation and radiographic findings. This classification system can be helpful in providing information about prognosis and management for a given individual. The four OI types are now referred to as follows: OI type I: classic non-deforming OI with blue sclerae. OI type II: perinatally lethal OI. OI type III: progressively deforming OI. OI type IV: common variable OI with normal sclerae.

Diagnosis Testing

The diagnosis of COL1A1/2-related OI is based on: Family history, a history of fractures, and characteristic physical findings; Radiographic findings (fractures of varying ages and stages of healing, wormian bones, "codfish" vertebrae, and osteopenia); and Molecular genetic testing of COL1A1 and COL1A2 and/or biochemical analysis of type 1 collagen. Biochemical testing (i.e., analysis of the structure and quantity of type I collagen synthesized in vitro by cultured dermal fibroblasts) detects abnormalities in 98% of individuals with historically classified OI type II, about 90% with OI type I, about 84% with OI type III, and about 84% with OI type IV. Molecular genetic testing of COL1A1 and COL1A2 detects abnormalities in more than 90% of individuals with historically classified OI types I, II, III, or IV.

Genetic Counseling

COL1A1/2-related OI is inherited in an autosomal dominant manner. The proportion of cases caused by a de novo COL1A1 or COL1A2 mutation varies by the severity of disease: approximately 60% of cases of classic non-deforming OI with blue sclerae or common variable OI with normal sclerae, virtually 100% of perinatally lethal OI, and close to 100% of progressively deforming OI are de novo. Gonadal mosaicism may be present in 3%-5% of cases. Each child of an individual with a dominantly inherited form of COL1A1/2-related OI has a 50% chance of inheriting the mutation and of developing some manifestations of OI. Prenatal testing in at-risk pregnancies can be performed by molecular genetic testing if the COL1A1 or COL1A2 mutation has been identified in an affected relative. Ultrasound examination performed in a center with experience in diagnosing OI can be valuable in the prenatal diagnosis of the lethal form and most severe forms prior to 20 weeks' gestation; milder forms may be detected later in pregnancy if fractures or deformities occur.

References

PMID: 20301472

Osteoporosis

MIM: 166710

Genetic Testing Registry

NHGRI GWAS Catalog

A genome-wide association study of breast and prostate cancer in the NHLBI's Framingham Heart Study.

HIV-1 protein interactions

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Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 X4-tropic gp120 upregulates alpha-SMA (ACTA2) and collagen I alpha 1 expression via the ERK1/2 pathway in a CXCR4-dependent manner in activated human hepatic stellate cells	PubMed
Tat, p14	tat	HIV-1 Tat, through its basic domain (amino acids 46-60), inhibits the adhesion of collagen I to the neuroblastoma cell line GI-CA-N, suggesting a role for Tat in the neurologic dysfunction and destruction of the CNS observed in infants infected with HIV-1	PubMed
	tat	HIV-1 Tat upregulates the steady-state RNA levels for fibronectin and types I and III collagen in glioblastoma cells and salivary gland cell lines	PubMed

Go to the HIV-1, Human Protein Interaction Database

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
NP_000079.1	NP_005177.2	CAPN1	BIND	PubMed	CAPN1 interacts with COL1A1.
P02452	P21810	BGN	HPRD	PubMed
P02452	P13497	BMP1	HPRD	PubMed
P02452	P07384	CAPN1	HPRD	PubMed
P02452	P16671	CD36	HPRD	PubMed
P02452	P16070	CD44	HPRD	PubMed
P02452	Q9NPY3	CD93	HPRD	PubMed
P02452	Q02388	COL7A1	HPRD	PubMed
P02452	P07585	DCN	HPRD	PubMed
P02452	Q16832	DDR2	HPRD	PubMed
P02452	P21781	FGF7	HPRD	PubMed
P02452	P02751	FN1	HPRD	PubMed
P02452	Q92743	HTRA1	HPRD	PubMed
P02452	P17936	IGFBP3	HPRD	PubMed
P02452	P17301	ITGA2	HPRD	PubMed
P02452	P08648	ITGA5	HPRD	PubMed
P02452	O00339	MATN2	HPRD	PubMed
P02452	P08253	MMP2	HPRD	PubMed
P02452	P14780	MMP9	HPRD	PubMed
P02452	P14543	NID1	HPRD	PubMed
P02452	P07237	P4HB	HPRD	PubMed
P02452	Q13153	PAK1	HPRD	PubMed
P02452	P01127	PDGFB	HPRD	PubMed
P02452	P51888	PRELP	HPRD	PubMed
P02452	P09486	SPARC	HPRD	PubMed
P02452	Q15582	TGFBI	HPRD	PubMed
P02452	P07996	THBS1	HPRD	PubMed
P02452	Q8IU80	TMPRSS6	HPRD	PubMed
P02452	P10599	TXN	HPRD	PubMed
P02452	P04275	VWF	HPRD	PubMed
BioGRID:107674	BioGRID:106561	ACHE	BioGRID	PubMed	Reconstituted Complex
BioGRID:107674	BioGRID:116973	ATP13A2	BioGRID	PubMed	Two-hybrid
BioGRID:107674	BioGRID:107056	BARD1	BioGRID	PubMed	Two-hybrid
BioGRID:107674	BioGRID:107140	BRCA1	BioGRID	PubMed	Two-hybrid
BioGRID:107674	BioGRID:125237	C12orf57	BioGRID	PubMed	Co-fractionation
BioGRID:107674	BioGRID:107691	COL7A1	BioGRID	PubMed	Reconstituted Complex
BioGRID:107674	BioGRID:108309	ELAVL1	BioGRID	PubMed	Affinity Capture-RNA
BioGRID:107674	BioGRID:109707	IGFBP3	BioGRID	PubMed	Affinity Capture-Western; Co-purification; Two-hybrid
BioGRID:107674	BioGRID:109880	ITGA2	BioGRID	PubMed	Co-purification
BioGRID:107674	BioGRID:109894	ITGB1	BioGRID	PubMed	Co-purification
BioGRID:107674	BioGRID:110273	MAG	BioGRID	PubMed	Reconstituted Complex
BioGRID:107674	BioGRID:110317	MATN2	BioGRID	PubMed	Reconstituted Complex
BioGRID:107674	BioGRID:110457	MMP2	BioGRID	PubMed	Reconstituted Complex
BioGRID:107674	BioGRID:110876	NID1	BioGRID	PubMed	Reconstituted Complex
BioGRID:107674	BioGRID:116476	NID2	BioGRID	PubMed	Reconstituted Complex
BioGRID:107674	BioGRID:201770	Nid1	BioGRID	PubMed	Reconstituted Complex
BioGRID:107674	BioGRID:111327	PKD1	BioGRID	PubMed	Reconstituted Complex
BioGRID:107674	BioGRID:111540	PRELP	BioGRID	PubMed	Reconstituted Complex
BioGRID:107674	BioGRID:111977	RNH1	BioGRID	PubMed	Co-fractionation
BioGRID:107674	BioGRID:112560	SPARC	BioGRID	PubMed	Reconstituted Complex
BioGRID:107674	BioGRID:112915	THBS1	BioGRID	PubMed	Reconstituted Complex
BioGRID:107674	BioGRID:113146	TXN	BioGRID	PubMed	Reconstituted Complex; Two-hybrid
BioGRID:107674	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS; Reconstituted Complex
BioGRID:107674	BioGRID:113289	VWF	BioGRID	PubMed	Co-fractionation; Reconstituted Complex

Pathways from BioSystems

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Amoebiasis, organism-specific biosystem (from KEGG)
Amoebiasis, organism-specific biosystemEntamoeba histolytica, an extracellular protozoan parasite is a human pathogen that invades the intestinal epithelium. Infection occurs on ingestion of contaminated water and food. The pathogenesis o...
Amoebiasis, conserved biosystem (from KEGG)
Amoebiasis, conserved biosystemEntamoeba histolytica, an extracellular protozoan parasite is a human pathogen that invades the intestinal epithelium. Infection occurs on ingestion of contaminated water and food. The pathogenesis o...
Assembly of collagen fibrils and other multimeric structures, organism-specific biosystem (from REACTOME)
Assembly of collagen fibrils and other multimeric structures, organism-specific biosystemCollagen trimers in triple-helical form, referred to as procollagen or collagen molecules, are exported from the ER and trafficked through the Golgi network before secretion into the extracellular sp...
Collagen biosynthesis and modifying enzymes, organism-specific biosystem (from REACTOME)
Collagen biosynthesis and modifying enzymes, organism-specific biosystemThe biosynthesis of collagen is a multistep process. Collagen propeptides are cotranslationally translocated into the ER lumen. Propeptides undergo a number of post-translational modifications. Proli...
Collagen formation, organism-specific biosystem (from REACTOME)
Collagen formation, organism-specific biosystemCollagen is a family of at least 29 structural proteins derived from over 40 human genes (Myllyharju & Kivirikko 2004). It is the main component of connective tissue, and the most abundant protein in...
ECM-receptor interaction, organism-specific biosystem (from KEGG)
ECM-receptor interaction, organism-specific biosystemThe extracellular matrix (ECM) consists of a complex mixture of structural and functional macromolecules and serves an important role in tissue and organ morphogenesis and in the maintenance of cell ...
ECM-receptor interaction, conserved biosystem (from KEGG)
ECM-receptor interaction, conserved biosystemThe extracellular matrix (ECM) consists of a complex mixture of structural and functional macromolecules and serves an important role in tissue and organ morphogenesis and in the maintenance of cell ...
Extracellular matrix organization, organism-specific biosystem (from REACTOME)
Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin, fibronectin and laminin embedded in a viscoelastic gel of ani...
Focal Adhesion, organism-specific biosystem (from WikiPathways)
Focal Adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
Focal adhesion, organism-specific biosystem (from KEGG)
Focal adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
Focal adhesion, conserved biosystem (from KEGG)
Focal adhesion, conserved biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
IL4-mediated signaling events, organism-specific biosystem (from Pathway Interaction Database)
IL4-mediated signaling events, organism-specific biosystem
IL4-mediated signaling events
Inflammatory Response Pathway, organism-specific biosystem (from WikiPathways)
Inflammatory Response Pathway, organism-specific biosystem
Inflammatory Response Pathway
Integrin cell surface interactions, organism-specific biosystem (from REACTOME)
Integrin cell surface interactions, organism-specific biosystemThe extracellular matrix (ECM) is a network of macro-molecules that underlies all epithelia and endothelia and that surrounds all connective tissue cells. This matrix provides the mechanical strength...
Osteoblast Signaling, organism-specific biosystem (from WikiPathways)
Osteoblast Signaling, organism-specific biosystem
Osteoblast Signaling
PI3K-Akt signaling pathway, organism-specific biosystem (from KEGG)
PI3K-Akt signaling pathway, organism-specific biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
PI3K-Akt signaling pathway, conserved biosystem (from KEGG)
PI3K-Akt signaling pathway, conserved biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
Protein digestion and absorption, organism-specific biosystem (from KEGG)
Protein digestion and absorption, organism-specific biosystemProtein is a dietary component essential for nutritional homeostasis in humans. Normally, ingested protein undergoes a complex series of degradative processes following the action of gastric, pancrea...
Protein digestion and absorption, conserved biosystem (from KEGG)
Protein digestion and absorption, conserved biosystemProtein is a dietary component essential for nutritional homeostasis in humans. Normally, ingested protein undergoes a complex series of degradative processes following the action of gastric, pancrea...
Senescence and Autophagy, organism-specific biosystem (from WikiPathways)
Senescence and Autophagy, organism-specific biosystemSenescense and Autophagy Pathways in Cancer
Signal Transduction, organism-specific biosystem (from REACTOME)
Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
VEGFR3 signaling in lymphatic endothelium, organism-specific biosystem (from Pathway Interaction Database)
VEGFR3 signaling in lymphatic endothelium, organism-specific biosystem
VEGFR3 signaling in lymphatic endothelium

General gene information

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Markers

COL1A1 (e-PCR)
- UniSTS:262913

MARC_5785-5786:991939715:3 (e-PCR)
- UniSTS:231169

MARC_5785-5786:997299286:1 (e-PCR)
- UniSTS:231169

GDB:180975 (e-PCR)
- UniSTS:155152

Col1a1 (e-PCR), detects polymorphism
- UniSTS:141374

PMC34669P1 (e-PCR)
- UniSTS:273227

GDB:177792 (e-PCR)
- UniSTS:154961

COL1A1_1682 (e-PCR)
- UniSTS:277113

MARC_5219-5220:996690145:1 (e-PCR)
- UniSTS:269465

fj67h06.x1 (e-PCR)
- UniSTS:199838

WI-18942 (e-PCR)
- UniSTS:30883

RH77855 (e-PCR)
- UniSTS:68277

GDB:180347 (e-PCR)
- UniSTS:155079

SGC32927 (e-PCR)
- UniSTS:73934

RH45119 (e-PCR)
- UniSTS:58326

GDB:177260 (e-PCR)
- UniSTS:154850

Genotypes

See COL1A1 SNP Geneview Report
See COL1A1 SNP Genotype Report
See COL1A1 SNP Variation Viewer Report

Homology

Homologs of the COL1A1 gene: The COL1A1 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, and zebrafish.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
extracellular matrix structural constituent	IEA Inferred from Electronic Annotation more info
identical protein binding	IDA Inferred from Direct Assay more info	PubMed
metal ion binding	IEA Inferred from Electronic Annotation more info
platelet-derived growth factor binding	IDA Inferred from Direct Assay more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
blood coagulation	TAS Traceable Author Statement more info
blood vessel development	IMP Inferred from Mutant Phenotype more info	PubMed
bone trabecula formation	IEA Inferred from Electronic Annotation more info
cartilage development involved in endochondral bone morphogenesis	IEA Inferred from Electronic Annotation more info
cellular response to amino acid stimulus	IEA Inferred from Electronic Annotation more info
cellular response to mechanical stimulus	IEA Inferred from Electronic Annotation more info
cellular response to retinoic acid	IEA Inferred from Electronic Annotation more info
cellular response to transforming growth factor beta stimulus	IEA Inferred from Electronic Annotation more info
collagen biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
collagen catabolic process	TAS Traceable Author Statement more info
collagen fibril organization	IMP Inferred from Mutant Phenotype more info	PubMed
embryonic skeletal system development	IMP Inferred from Mutant Phenotype more info	PubMed
endochondral ossification	IEA Inferred from Electronic Annotation more info
extracellular matrix disassembly	TAS Traceable Author Statement more info
extracellular matrix organization	TAS Traceable Author Statement more info
face morphogenesis	IEA Inferred from Electronic Annotation more info
intramembranous ossification	IEA Inferred from Electronic Annotation more info
leukocyte migration	TAS Traceable Author Statement more info
negative regulation of cell-substrate adhesion	IEA Inferred from Electronic Annotation more info
osteoblast differentiation	IEA Inferred from Electronic Annotation more info
platelet activation	TAS Traceable Author Statement more info
positive regulation of canonical Wnt receptor signaling pathway	IDA Inferred from Direct Assay more info
positive regulation of cell migration	IDA Inferred from Direct Assay more info
positive regulation of epithelial to mesenchymal transition	IDA Inferred from Direct Assay more info
positive regulation of transcription, DNA-dependent	IDA Inferred from Direct Assay more info
protein heterotrimerization	IEA Inferred from Electronic Annotation more info
protein localization to nucleus	IDA Inferred from Direct Assay more info
protein transport	IEA Inferred from Electronic Annotation more info
response to cAMP	IEA Inferred from Electronic Annotation more info
response to corticosteroid stimulus	IEA Inferred from Electronic Annotation more info
response to hydrogen peroxide	IEA Inferred from Electronic Annotation more info
response to nutrient	IEA Inferred from Electronic Annotation more info
response to peptide hormone stimulus	IEA Inferred from Electronic Annotation more info
sensory perception of sound	IMP Inferred from Mutant Phenotype more info	PubMed
skeletal system development	IMP Inferred from Mutant Phenotype more info	PubMed
skin morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
tooth mineralization	IMP Inferred from Mutant Phenotype more info	PubMed
visual perception	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
collagen type I	IMP Inferred from Mutant Phenotype more info	PubMed
endoplasmic reticulum lumen	TAS Traceable Author Statement more info
colocalizes_with extracellular matrix	IDA Inferred from Direct Assay more info
colocalizes_with extracellular matrix	ISS Inferred from Sequence or Structural Similarity more info
extracellular region	TAS Traceable Author Statement more info
extracellular space	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: collagen alpha-1(I) chain

Names: collagen alpha-1(I) chain; alpha-1 type I collagen; pro-alpha-1 collagen type 1; collagen alpha 1 chain type I; collagen alpha-1(I) chain preproprotein; collagen of skin, tendon and bone, alpha-1 chain

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_007400.1 RefSeqGene

Range

5001..22544

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1

mRNA and Protein(s)

NM_000088.3 → NP_000079.2 collagen alpha-1(I) chain preproprotein

Status: REVIEWED

Source sequence(s)

AC015909, Z74615

Consensus CDS

CCDS11561.1

UniProtKB/Swiss-Prot

P02452

Related

ENSP00000225964, OTTHUMP00000192905, ENST00000225964, OTTHUMT00000309036

Conserved Domains (3) summary

pfam00093
Location:40 – 95
Blast Score: 215

VWC; von Willebrand factor type C domain

pfam01410
Location:1245 – 1463
Blast Score: 1034

COLFI; Fibrillar collagen C-terminal domain

pfam01391
Location:959 – 1036
Blast Score: 98

Collagen; Collagen triple helix repeat (20 copies)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000017.10 Reference GRCh37.p10 Primary Assembly

Range

48261457..48279000, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000149.1 Alternate HuRef

Range

43630129..43647463, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018928.1 Alternate CHM1_1.0

Range

49275514..49293045, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01041231.1 (14683..15767)	None
genomic	ABBA01041232.1	None
genomic	AC015909.14 (167926..185469)	None
genomic	AF017178.2	AAB94054.3
genomic	AMYH01008471.1 (54026..71557)	None
genomic	CH471109.2	EAW94630.1
		EAW94631.1
genomic	J02829.1	AAA51993.1
genomic	J03559.1	AAA52052.1
genomic	K03179.1	AAA51847.1
genomic	M10627.1	AAA51992.1
genomic	M11162.1	AAA75386.1
genomic	M20789.1	AAB59373.1
genomic	M23213.1	AAB59363.1
genomic	M55998.1	AAA52036.1
genomic	S58915.1	AAB26324.1
genomic	X00299.1	CAA25082.1
genomic	X00820.1	CAA25394.1
mRNA	AB209597.1	BAD92834.1
mRNA	AK297731.1	BAH12658.1
mRNA	BC036531.2	AAH36531.1
mRNA	J00110.1	AAA52289.1
mRNA	J00111.1	AAA52290.1
mRNA	J00112.1	AAA52291.1
mRNA	J00113.1	AAN86574.1
mRNA	JQ236861.1	AFD28984.1
mRNA	K01228.1	AAA51995.1
mRNA	M32798.1	AAA52049.1
mRNA	M36546.1	AAA60150.1
mRNA	S64596.1	AAB27856.1
mRNA	X06269.1	CAA29605.1
mRNA	X07884.1	CAA30731.1
mRNA	Z74615.1	CAA98968.1
other-genetic	DQ893571.2	ABM84497.1
other-genetic	EU176569.1	ABW03370.1