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

Gene ID: 1277, updated on 6-Sep-2021

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; CAFYD; 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
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Genomic context

See COL1A1 in Genome Data Viewer
Location:
17q21.33
Exon count:
51
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (50184096..50201649, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (48261462..48278992, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene sarcoglycan alpha Neighboring gene H1.9 linker histone, pseudogene Neighboring gene Sharpr-MPRA regulatory region 10059 Neighboring gene long intergenic non-protein coding RNA 1969 Neighboring gene SUMO2 pseudogene 7

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide association study of breast and prostate cancer in the NHLBI's Framingham Heart Study.
GeneReviews: Not available
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
MedGen: C5436842 OMIM: 619115 GeneReviews: Not available
Compare labs
Ehlers-Danlos syndrome, arthrochalasia type, 1
MedGen: C4551623 OMIM: 130060 GeneReviews: Not available
Compare labs
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.
GeneReviews: Not available
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
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

HIV-1 interactions

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 PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in blood vessel development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in blood vessel development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in bone trabecula formation IEA
Inferred from Electronic Annotation
more info
 
involved_in cartilage development involved in endochondral bone morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to amino acid stimulus IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to epidermal growth factor stimulus IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to fibroblast growth factor stimulus IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to fluoride IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to mechanical stimulus IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to retinoic acid IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to transforming growth factor beta stimulus IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to tumor necrosis factor IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to vitamin E IEA
Inferred from Electronic Annotation
more info
 
involved_in collagen biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in collagen fibril organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in collagen-activated tyrosine kinase receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in embryonic skeletal system development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in endochondral ossification IEA
Inferred from Electronic Annotation
more info
 
involved_in extracellular matrix organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in face morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in intramembranous ossification IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of cell-substrate adhesion IEA
Inferred from Electronic Annotation
more info
 
involved_in ossification IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in osteoblast differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of canonical Wnt signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of cell migration IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of epithelial to mesenchymal transition IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein localization to nucleus IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein transport IEA
Inferred from Electronic Annotation
more info
 
involved_in response to cAMP IEA
Inferred from Electronic Annotation
more info
 
involved_in response to corticosteroid IEA
Inferred from Electronic Annotation
more info
 
involved_in response to estradiol IEA
Inferred from Electronic Annotation
more info
 
involved_in response to hydrogen peroxide IEA
Inferred from Electronic Annotation
more info
 
involved_in response to hyperoxia IEA
Inferred from Electronic Annotation
more info
 
involved_in response to mechanical stimulus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in response to peptide hormone IEA
Inferred from Electronic Annotation
more info
 
involved_in response to xenobiotic stimulus IEA
Inferred from Electronic Annotation
more info
 
involved_in sensory perception of sound IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in skeletal system development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within skeletal system development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in skeletal system development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in skin development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in skin morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in tooth eruption IEA
Inferred from Electronic Annotation
more info
 
involved_in tooth mineralization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in visual perception IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in wound healing IEA
Inferred from Electronic Annotation
more info
 

General protein information

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

  1. NG_007400.1 RefSeqGene

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

mRNA and Protein(s)

  1. NM_000088.4NP_000079.2  collagen alpha-1(I) chain preproprotein

    See identical proteins and their annotated locations for NP_000079.2

    Status: REVIEWED

    Source sequence(s)
    AB209597, AC015909
    Consensus CDS
    CCDS11561.1
    UniProtKB/Swiss-Prot
    P02452
    Related
    ENSP00000225964.6, ENST00000225964.10
    Conserved Domains (5) summary
    PRK07764
    Location:449640
    PRK07764; DNA polymerase III subunits gamma and tau; Validated
    PRK12678
    Location:9081111
    PRK12678; transcription termination factor Rho; Provisional
    pfam00093
    Location:4095
    VWC; von Willebrand factor type C domain
    pfam01391
    Location:239295
    Collagen; Collagen triple helix repeat (20 copies)
    pfam01410
    Location:12271463
    COLFI; Fibrillar collagen C-terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    50184096..50201649 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005257058.4XP_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:236295
    Collagen; Collagen triple helix repeat (20 copies)
    pfam00093
    Location:4095
    VWC; von Willebrand factor type C domain
    pfam01410
    Location:11401373
    COLFI; Fibrillar collagen C-terminal domain
  2. XM_005257059.4XP_005257116.2  collagen alpha-1(I) chain isoform X3

    Conserved Domains (3) summary
    pfam01391
    Location:236295
    Collagen; Collagen triple helix repeat (20 copies)
    pfam00093
    Location:4095
    VWC; von Willebrand factor type C domain
    pfam01410
    Location:9241157
    COLFI; Fibrillar collagen C-terminal domain
  3. XM_011524341.1XP_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:236295
    Collagen; Collagen triple helix repeat (20 copies)
    pfam00093
    Location:4095
    VWC; von Willebrand factor type C domain
    pfam01410
    Location:11641397
    COLFI; Fibrillar collagen C-terminal domain
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