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

Gene ID: 1277, updated on 11-Jun-2025
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; AllianceGenome:HGNC:2197
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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See COL1A1 in Genome Data Viewer
Location:
17q21.33
Exon count:
51
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (50184101..50201631, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (51051162..51068680, complement)
RS_2024_09 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 uncharacterized LOC124904025 Neighboring gene uncharacterized LOC105371818 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8687 Neighboring gene Sharpr-MPRA regulatory region 13843 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48240960-48241460 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48252214-48252815 Neighboring gene sarcoglycan alpha Neighboring gene Sharpr-MPRA regulatory region 9980 Neighboring gene H1.9 linker histone, pseudogene Neighboring gene Sharpr-MPRA regulatory region 10059 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48259283-48260178 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48261754-48262744 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48266067-48266622 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48266623-48267176 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8689 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8690 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8691 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48283085-48283586 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:48287195-48287760 Neighboring gene Sharpr-MPRA regulatory region 1443 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12380 Neighboring gene TGF-beta induced lncRNA activating myofibroblasts Neighboring gene SUMO2 pseudogene 7

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Associated conditions

Description Tests
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
MedGen: C5436842 OMIM: 619115 GeneReviews: Not available
Compare labs
Ehlers-Danlos syndrome, arthrochalasia type
MedGen: C4551623 OMIM: 130060 GeneReviews: Not available
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, perinatal lethal Compare labs
Osteoporosis
MedGen: C0029456 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

EBI GWAS Catalog

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

Products Interactant Other Gene Complex Source Pubs Description

Markers

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in animal organ development IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within blood vessel development IEA
Inferred from Electronic Annotation
more info
 
involved_in blood vessel development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within bone trabecula formation IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within cartilage development involved in endochondral bone morphogenesis IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within 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 glucose stimulus 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 IEA
Inferred from Electronic Annotation
more info
 
involved_in collagen fibril organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in collagen fibril organization NAS
Non-traceable Author Statement
more info
PubMed 
acts_upstream_of_or_within 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 
acts_upstream_of_or_within endochondral ossification IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within face morphogenesis IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within intramembranous ossification IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within negative regulation of cell-substrate adhesion IEA
Inferred from Electronic Annotation
more info
 
involved_in ossification IEA
Inferred from Electronic Annotation
more info
 
involved_in osteoblast differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
PubMed 
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 protein localization to nucleus IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within 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 estradiol IEA
Inferred from Electronic Annotation
more info
 
involved_in response to fluoride 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 insulin IEA
Inferred from Electronic Annotation
more info
 
involved_in response to mechanical stimulus IEA
Inferred from Electronic Annotation
more info
 
involved_in response to nutrient IEA
Inferred from Electronic Annotation
more info
 
involved_in response to nutrient levels IEA
Inferred from Electronic Annotation
more info
 
involved_in response to peptide hormone IEA
Inferred from Electronic Annotation
more info
 
involved_in response to steroid 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 
acts_upstream_of_or_within skeletal system development IEA
Inferred from Electronic Annotation
more info
 
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 
acts_upstream_of_or_within skeletal system morphogenesis IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within skin development IEA
Inferred from Electronic Annotation
more info
 
involved_in skin morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in system development 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 
Component Evidence Code Pubs
part_of collagen trimer IEA
Inferred from Electronic Annotation
more info
 
part_of collagen type I trimer IDA
Inferred from Direct Assay
more info
PubMed 
part_of collagen type I trimer IEA
Inferred from Electronic Annotation
more info
 
part_of collagen type I trimer IMP
Inferred from Mutant Phenotype
more info
PubMed 
part_of collagen type I trimer IPI
Inferred from Physical Interaction
more info
PubMed 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in endoplasmic reticulum lumen IEA
Inferred from Electronic Annotation
more info
 
located_in endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
colocalizes_with extracellular matrix HDA PubMed 
located_in extracellular matrix HDA PubMed 
located_in extracellular matrix IEA
Inferred from Electronic Annotation
more info
 
colocalizes_with extracellular matrix ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
located_in extracellular region HDA PubMed 
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
 
located_in extracellular region TAS
Traceable Author Statement
more info
 
located_in extracellular space HDA PubMed 
located_in extracellular space IEA
Inferred from Electronic Annotation
more info
 
located_in extracellular space IMP
Inferred from Mutant Phenotype
more info
PubMed 
part_of fibrillar collagen trimer IEA
Inferred from Electronic Annotation
more info
 
located_in secretory granule IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
collagen alpha-1(I) chain
Names
alpha-1 type I collagen
alpha1(I) procollagen
collagen Col1-ColIII-1
collagen Col1-ColIII-2
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

NEW Try the new Transcript table

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
    O76045, P02452, P78441, Q13896, Q13902, Q13903, Q14037, Q14992, Q15176, Q15201, Q16050, Q59F64, Q7KZ30, Q7KZ34, Q8IVI5, Q8N473, Q9UML6, Q9UMM7
    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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    50184101..50201631 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005257059.5XP_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
  2. XM_011524341.2XP_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
  3. XM_005257058.5XP_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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    51051162..51068680 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054315083.1XP_054171058.1  collagen alpha-1(I) chain isoform X3

  2. XM_054315081.1XP_054171056.1  collagen alpha-1(I) chain isoform X1

  3. XM_054315082.1XP_054171057.1  collagen alpha-1(I) chain isoform X2