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

Gene ID: 1277, updated on 19-Dec-2014
Official Symbol
COL1A1provided by HGNC
Official Full Name
collagen, type I, alpha 1provided by HGNC
Primary source
HGNC: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]
See COL1A1 in Epigenomics, MapViewer
Location:
17q21.33
Exon count:
51
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 17 NC_000017.11 (50184096..50201642, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (48261457..48279003, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene protein phosphatase 1, regulatory subunit 9B Neighboring gene sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) Neighboring gene histone linker H1 domain, spermatid-specific 1, pseudogene Neighboring gene uncharacterized LOC101927230 Neighboring gene SUMO2 pseudogene 7

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Ehlers-Danlos syndrome, procollagen proteinase deficient
MedGen: C0268345 OMIM: 130060 GeneReviews: Not available
Compare labs
Ehlers-Danlos syndrome, type 1 Compare labs
Infantile cortical hyperostosis
MedGen: C0020497 OMIM: 114000 GeneReviews: Caffey Disease
Compare labs
Osteogenesis imperfecta Compare labs
Osteogenesis imperfecta type I Compare labs
Osteogenesis imperfecta type III Compare labs
Osteogenesis imperfecta with normal sclerae, dominant form Compare labs
Osteogenesis imperfecta, recessive perinatal lethal Compare labs
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
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

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
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

  • 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 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
  • 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, organism-specific biosystem (from WikiPathways)
    Senescence and Autophagy, 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
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

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 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 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 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
 
response to cAMP IEA
Inferred from Electronic Annotation
more info
 
response to corticosteroid IEA
Inferred from Electronic Annotation
more info
 
response to drug 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 peptide hormone 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 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 IMP
Inferred from Mutant Phenotype
more info
PubMed 
endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
extracellular matrix IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with extracellular matrix IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with extracellular matrix ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
secretory granule IEA
Inferred from Electronic Annotation
more info
 
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

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

  1. NG_007400.1 

    Range
    5001..22544
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1

mRNA and Protein(s)

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

    See proteins identical to NP_000079.2

    Status: REVIEWED

    Source sequence(s)
    AC015909, Z74615
    Consensus CDS
    CCDS11561.1
    UniProtKB/Swiss-Prot
    P02452
    Related
    ENSP00000225964, OTTHUMP00000192905, ENST00000225964, OTTHUMT00000309036
    Conserved Domains (3) summary
    pfam01391
    Location:236295
    Collagen; Collagen triple helix repeat (20 copies)
    smart00038
    Location:12281464
    COLFI; Fibrillar collagens C-terminal domain
    pfam00093
    Location:4095
    VWC; von Willebrand factor type C domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000017.11 

    Range
    50184096..50201642
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005257059.2XP_005257116.2  

    Conserved Domains (3) summary
    pfam01391
    Location:236295
    Collagen; Collagen triple helix repeat (20 copies)
    smart00038
    Location:9221158
    COLFI; Fibrillar collagens C-terminal domain
    pfam00093
    Location:4095
    VWC; von Willebrand factor type C domain
  2. XM_006721703.1XP_006721766.1  

    Conserved Domains (3) summary
    pfam01391
    Location:236295
    Collagen; Collagen triple helix repeat (20 copies)
    smart00038
    Location:7841020
    COLFI; Fibrillar collagens C-terminal domain
    pfam00093
    Location:4095
    VWC; von Willebrand factor type C domain
  3. XM_005257058.2XP_005257115.2  

    See proteins identical to XP_005257115.2

    Conserved Domains (3) summary
    pfam01391
    Location:236295
    Collagen; Collagen triple helix repeat (20 copies)
    smart00038
    Location:11381374
    COLFI; Fibrillar collagens C-terminal domain
    pfam00093
    Location:4095
    VWC; von Willebrand factor type C domain

Alternate CHM1_1.1

Genomic

  1. NC_018928.2 

    Range
    48325754..48343284
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000149.1 

    Range
    43630129..43647463
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)