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

Summary

Official Symbol: COL1A1provided by HGNC
Official Full Name: collagen type I alpha 1 chainprovided by HGNC
Primary source: HGNC:HGNC:2197
See related: Ensembl:ENSG00000108821 MIM:120150
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: OI1; OI2; OI3; OI4; EDSC; EDSARTH1
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]
Expression: Biased expression in gall bladder (RPKM 850.7), urinary bladder (RPKM 497.1) and 11 other tissues See more
Orthologs: mouse all

Genomic context

Location:: 17q21.33

Exon count:: 51

Annotation release	Status	Assembly	Chr	Location
109.20190607	current	GRCh38.p13 (GCF_000001405.39)	17	NC_000017.11 (50184096..50201649, complement)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (48261457..48279003, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Study data suggest a model through which cancer-derived miR-218 inhibits osteoblast function of collagen deposition though direct targeting of COL1A1 by cancer-secreted miR-218 whereas intracellular miR-218 in breast cancer cells regulates the expression of inhibin beta-A subunits.
Title: Metastatic breast cancer cells overexpress and secrete miR-218 to regulate type I collagen deposition by osteoblasts.
A TGFb1 inhibitor was also applied, which attenuated the effects of mechanical force on Human gingival fibroblasts (HGF) proliferation, and COL1 and MMP1 expression, thus suggesting that TGFb signaling pathways may mediate the mechanical forceinduced alterations observed in HGFs.
Title: Mechanical force promotes the proliferation and extracellular matrix synthesis of human gingival fibroblasts cultured on 3D PLGA scaffolds via TGF‑β expression.
In vivo, local injection of COLIA1 gene adenovirus increased collagen type I expression, restored bone mineral density, and accelerated fracture healing in ovariectomized rats, without increasing serum collagen type I and liver COLIA1 mRNA levels
Title: Gene Therapy with Tetracycline-Regulated Human Recombinant COLIA1 cDNA Direct Adenoviral Delivery Enhances Fracture Healing in Osteoporotic Rats.
Four out of six cases harbored COL1A1 rearrangement (Fig. 1) indicating COL1A1-USP6 fusions in a subset of myositis ossificans
Title: COL1A1 is a fusionpartner of USP6 in myositis ossificans - FISH analysis of six cases.
REVIEW: betaCTX is useful as an adjunct to imaging techniques for the diagnosis of Paget's disease of bone and for monitoring therapy and detecting recurrence. betaCTX also shows promise in the management of metastatic bone disease.
Title: Measurement and Clinical Utility of βCTX in Serum and Plasma.
Integrative epigenomics, transcriptomics and proteomics of patients chondrocytes from hip or knee osteoarthritis (OA) identified AQP1, COL1A1 and CLEC3B as significantly and differentially regulated suggesting they play an important role in OA pathogenesis.
Title: Integrative epigenomics, transcriptomics and proteomics of patient chondrocytes reveal genes and pathways involved in osteoarthritis.
ADAMTS-2, collagen type-1, TIMP-3 and papilin levels of the uterosacral ligament play essential roles in the etiopathogenesis of pelvic organ prolapse among postmenopausal women without stress urinary incontinence.
Title: The role of ADAMTS-2, collagen type-1, TIMP-3 and papilin levels of uterosacral and cardinal ligaments in the etiopathogenesis of pelvic organ prolapse among women without stress urinary incontinence.
COL1A1 protein and mRNA are upregulated in colorectal cancer tissues and cells regardless of KRAS genotype.
Title: COL1A1: A potential therapeutic target for colorectal cancer expressing wild-type or mutant KRAS.
Serum was analyzed for sclerostin, cross linked telopeptide of type I collagen (CTXI), and procollagen type I amino-terminal propeptide (PINP). A significant time effect was found for sclerostin, which increased from pre-exercise to 5 min after exercise in both trials
Title: Response of Sclerostin and Bone Turnover Markers to High Intensity Interval Exercise in Young Women: Does Impact Matter?
The Col1A1 Sp1-binding site gene polymorphism showed a significant association in ALL patients with osteonecrosis.
Title: Investigation of the Relationship Between <i>Fok1</i> and <i>Col1A1</i> Gene Polymorphisms and Development of Treatment-Related Bone Complications in Children with Acute Lymphoblastic Leukemia

Submit: New GeneRIF Correction See all GeneRIFs (460)

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

Associated conditions

Description	Tests
Ehlers-Danlos syndrome, procollagen proteinase deficient MedGen: C4551623 OMIM: 130060 GeneReviews: Not available	Compare labs
Infantile cortical hyperostosis MedGen: C0020497 OMIM: 114000 GeneReviews: Caffey Disease	Compare labs
Osteogenesis imperfecta MedGen: C0029434 GeneReviews: COL1A1/2-Related Osteogenesis Imperfecta	Compare labs
Osteogenesis imperfecta type I MedGen: C0023931 OMIM: 166200 GeneReviews: COL1A1/2-Related Osteogenesis Imperfecta	Compare labs
Osteogenesis imperfecta type III MedGen: C0268362 OMIM: 259420 GeneReviews: COL1A1/2-Related Osteogenesis Imperfecta	Compare labs
Osteogenesis imperfecta with normal sclerae, dominant form MedGen: C0268363 OMIM: 166220 GeneReviews: COL1A1/2-Related Osteogenesis Imperfecta	Compare labs
Osteogenesis imperfecta, recessive perinatal lethal MedGen: C0268360 OMIM: 166210 GeneReviews: COL1A1/2-Related Osteogenesis Imperfecta	Compare labs
Postmenopausal osteoporosis MedGen: C0029458 OMIM: 166710 GeneReviews: Not available	Compare labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated (2012-08-23) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated (2012-08-23) ClinGen Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
A genome-wide association study of breast and prostate cancer in the NHLBI's Framingham Heart Study. NHGRI GWA Catalog NHGRI GWA CatalogPubMed
Genetic association with overall survival of taxane-treated lung cancer patients - A genome-wide association study in human lymphoblastoid cell lines followed by a clinical association study. NHGRI GWA Catalog NHGRI GWA CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

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	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
Vpu	vpu	HIV-1 Vpu-expressing U937 monocytes coculture with LX2 stellate cells to upregulate expression of profibrogenic markers COL-1, PCT, SMA-1, VEGF, and MMP2, which is inhibited by MIF treatment	PubMed
matrix	gag	Treatment of human stellate cells with HIV-1 MA upregulates the expression of CXCR2, syndecan-2, collagen-I, alpha-SMA, vimentin, and endothelin-1	PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

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AGE-RAGE signaling pathway in diabetic complications, organism-specific biosystem (from KEGG)
AGE-RAGE signaling pathway in diabetic complications, organism-specific biosystemAdvanced glycation end products (AGEs) are a complex group of compounds produced through the non-enzymatic glycation and oxidation of proteins, lipids and nucleic acids, primarily due to aging and un...
AGE-RAGE signaling pathway in diabetic complications, conserved biosystem (from KEGG)
AGE-RAGE signaling pathway in diabetic complications, conserved biosystemAdvanced glycation end products (AGEs) are a complex group of compounds produced through the non-enzymatic glycation and oxidation of proteins, lipids and nucleic acids, primarily due to aging and un...
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...
Binding and Uptake of Ligands by Scavenger Receptors, organism-specific biosystem (from REACTOME)
Binding and Uptake of Ligands by Scavenger Receptors, organism-specific biosystemScavenger receptors bind free extracellular ligands as the initial step in clearance of the ligands from the body (reviewed in Ascenzi et al. 2005, Areschoug and Gordon 2009, Nielsen et al. 2010). So...
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 chain trimerization, organism-specific biosystem (from REACTOME)
Collagen chain trimerization, organism-specific biosystemThe C-propeptides of collagen propeptide chains are essential for the association of three peptide chains into a trimeric but non-helical procollagen. This initial binding event determines the compo...
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 and associated-microfibrils, fibronectin and laminins embedded...
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
Nanoparticle-mediated activation of receptor signaling, organism-specific biosystem (from WikiPathways)
Nanoparticle-mediated activation of receptor signaling, organism-specific biosystemNanoparticle-mediated activation of receptor signaling. Several NP formulations were shown to interact with cellular receptors such as the EGFR and integrins, inducing cellular phenotypes such as pro...
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...
Platelet activation, organism-specific biosystem (from KEGG)
Platelet activation, organism-specific biosystemPlatelets play a key and beneficial role for primary hemostasis on the disruption of the integrity of vessel wall. Platelet adhesion and activation at sites of vascular wall injury is initiated by ad...
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...
Scavenging by Class A Receptors, organism-specific biosystem (from REACTOME)
Scavenging by Class A Receptors, organism-specific biosystemClass A scavenger receptors contain an intracellular domain, a transmembrane region, a coiled-coil domain, a collagenous domain, and the SR cysteine-rich domain (reviewed in Areschoug and Gordon 2009...
Senescence and Autophagy in Cancer, organism-specific biosystem (from WikiPathways)
Senescence and Autophagy in Cancer, organism-specific biosystemSenescense and Autophagy Pathways in Cancer
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
Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

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

Homology

Homologs of the COL1A1 gene: The COL1A1 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, zebrafish, and frog.
Orthologs from Annotation Pipeline: 183 organisms have orthologs with human gene COL1A1
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
extracellular matrix structural constituent	IBA Inferred from Biological aspect of Ancestor more info	PubMed
extracellular matrix structural constituent conferring tensile strength	HDA more info	PubMed
extracellular matrix structural constituent conferring tensile strength	ISS Inferred from Sequence or Structural Similarity more info
extracellular matrix structural constituent conferring tensile strength	RCA inferred from Reviewed Computational Analysis more info	PubMed
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
protease binding	IPI Inferred from Physical Interaction 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	IBA Inferred from Biological aspect of Ancestor more info	PubMed
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 epidermal growth factor stimulus	IEA Inferred from Electronic Annotation more info
cellular response to fibroblast growth factor stimulus	IEA Inferred from Electronic Annotation more info
cellular response to fluoride	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
cellular response to tumor necrosis factor	IEA Inferred from Electronic Annotation more info
cellular response to vitamin E	IEA Inferred from Electronic Annotation more info
collagen biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
collagen fibril organization	IMP Inferred from Mutant Phenotype more info	PubMed
collagen-activated tyrosine kinase receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor 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 organization	IBA Inferred from Biological aspect of Ancestor more info	PubMed
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
ossification	IBA Inferred from Biological aspect of Ancestor more info	PubMed
osteoblast differentiation	IEA Inferred from Electronic Annotation more info
platelet activation	TAS Traceable Author Statement more info
positive regulation of canonical Wnt signaling pathway	IDA Inferred from Direct Assay more info	PubMed
positive regulation of cell migration	IDA Inferred from Direct Assay more info	PubMed
positive regulation of epithelial to mesenchymal transition	IDA Inferred from Direct Assay more info	PubMed
positive regulation of transcription, DNA-templated	IDA Inferred from Direct Assay more info	PubMed
protein heterotrimerization	IEA Inferred from Electronic Annotation more info
protein localization to nucleus	IDA Inferred from Direct Assay more info	PubMed
protein transport	IEA Inferred from Electronic Annotation more info
regulation of immune response	TAS Traceable Author Statement more info
response to cAMP	IEA Inferred from Electronic Annotation more info
response to corticosteroid	IEA Inferred from Electronic Annotation more info
response to estradiol	IEA Inferred from Electronic Annotation more info
response to hydrogen peroxide	IEA Inferred from Electronic Annotation more info
response to hyperoxia	IEA Inferred from Electronic Annotation more info
response to mechanical stimulus	IBA Inferred from Biological aspect of Ancestor more info	PubMed
response to peptide hormone	IEA Inferred from Electronic Annotation more info
sensory perception of sound	IMP Inferred from Mutant Phenotype more info	PubMed
skeletal system development	IBA Inferred from Biological aspect of Ancestor more info	PubMed
skeletal system development	IMP Inferred from Mutant Phenotype more info	PubMed
skin development	IBA Inferred from Biological aspect of Ancestor more info	PubMed
skin morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
tooth eruption	IEA Inferred from Electronic Annotation more info
tooth mineralization	IMP Inferred from Mutant Phenotype more info	PubMed
visual perception	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
Golgi apparatus	IEA Inferred from Electronic Annotation more info
collagen type I trimer	IBA Inferred from Biological aspect of Ancestor more info	PubMed
collagen type I trimer	IDA Inferred from Direct Assay more info	PubMed
collagen type I trimer	IMP Inferred from Mutant Phenotype more info	PubMed
collagen-containing extracellular matrix	HDA more info	PubMed
colocalizes_with collagen-containing extracellular matrix	HDA more info	PubMed
colocalizes_with collagen-containing extracellular matrix	ISS Inferred from Sequence or Structural Similarity more info	PubMed
cytoplasm	IBA Inferred from Biological aspect of Ancestor more info	PubMed
endoplasmic reticulum lumen	TAS Traceable Author Statement more info
extracellular matrix	IBA Inferred from Biological aspect of Ancestor more info	PubMed
extracellular region	HDA more info	PubMed
extracellular region	TAS Traceable Author Statement more info
extracellular space	HDA more info	PubMed
extracellular space	IBA Inferred from Biological aspect of Ancestor more info	PubMed
extracellular space	IMP Inferred from Mutant Phenotype more info	PubMed
secretory granule	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: collagen alpha-1(I) chain

Names: alpha-1 type I collagen; alpha1(I) procollagen; collagen alpha 1 chain type I; collagen alpha-1(I) chain preproprotein; collagen of skin, tendon and bone, alpha-1 chain; collagen, type I, alpha 1; pro-alpha-1 collagen type 1; type I proalpha 1; type I procollagen 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

See identical proteins and their annotated locations for NP_000079.2

Status: REVIEWED

Source sequence(s)

AC015909, Z74615

Consensus CDS

CCDS11561.1

UniProtKB/Swiss-Prot

P02452

Related

ENSP00000225964.5, ENST00000225964.9

Conserved Domains (5) summary

pfam01391
Location:236 → 295

Collagen; Collagen triple helix repeat (20 copies)

pfam00093
Location:40 → 95

VWC; von Willebrand factor type C domain

pfam01410
Location:1230 → 1463

COLFI; Fibrillar collagen C-terminal domain

cl26386
Location:449 → 640

DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III

cl28310
Location:908 → 1111

Rho; Transcription termination factor Rho [Transcription]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...

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

Reference GRCh38.p13 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p13 Primary Assembly

Range

50184096..50201649 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005257058.4 → XP_005257115.2 collagen alpha-1(I) chain isoform X2

See identical proteins and their annotated locations for XP_005257115.2

Conserved Domains (3) summary

pfam01391
Location:236 → 295

Collagen; Collagen triple helix repeat (20 copies)

pfam00093
Location:40 → 95

VWC; von Willebrand factor type C domain

pfam01410
Location:1140 → 1373

COLFI; Fibrillar collagen C-terminal domain
XM_005257059.4 → XP_005257116.2 collagen alpha-1(I) chain isoform X3

Conserved Domains (3) summary

pfam01391
Location:236 → 295

Collagen; Collagen triple helix repeat (20 copies)

pfam00093
Location:40 → 95

VWC; von Willebrand factor type C domain

pfam01410
Location:924 → 1157

COLFI; Fibrillar collagen C-terminal domain
XM_011524341.1 → XP_011522643.1 collagen alpha-1(I) chain isoform X1

See identical proteins and their annotated locations for XP_011522643.1

Conserved Domains (3) summary

pfam01391
Location:236 → 295

Collagen; Collagen triple helix repeat (20 copies)

pfam00093
Location:40 → 95

VWC; von Willebrand factor type C domain

pfam01410
Location:1164 → 1397

COLFI; Fibrillar collagen C-terminal domain