COL1A1 Gene (Protein Coding)

Collagen Type I Alpha 1 Chain

GC17M050183
GIFtS:
50
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 synd... See more...

Aliases for COL1A1 Gene

Aliases for COL1A1 Gene

  • Collagen Type I Alpha 1 Chain 2 3 5
  • Collagen, Type I, Alpha 1 2 3
  • Collagen Alpha-1(I) Chain 3 4
  • Alpha-1 Type I Collagen 3 4
  • OI4 2 3
  • Collagen Of Skin, Tendon And Bone, Alpha-1 Chain 3
  • Collagen Alpha-1(I) Chain Preproprotein 3
  • Type I Procollagen Alpha 1 Chain 3
  • Collagen Alpha 1 Chain Type I 3
  • Pro-Alpha-1 Collagen Type 1 3
  • Alpha1(I) Procollagen 3
  • Type I Proalpha 1 3
  • EDSARTH1 3
  • COL1A1 5
  • CAFYD 3
  • EDSC 3
  • OI1 3
  • OI2 3
  • OI3 3

External Ids for COL1A1 Gene

Previous GeneCards Identifiers for COL1A1 Gene

  • GC17M047864
  • GC17M050742
  • GC17M048602
  • GC17M048736
  • GC17M045617
  • GC17M048260
  • GC17M043632

Summaries for COL1A1 Gene

Entrez Gene Summary for COL1A1 Gene

  • 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]

GeneCards Summary for COL1A1 Gene

COL1A1 (Collagen Type I Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL1A1 include Caffey Disease and Osteogenesis Imperfecta, Type I. Among its related pathways are Integrin Pathway and Collagen chain trimerization. Gene Ontology (GO) annotations related to this gene include identical protein binding and platelet-derived growth factor binding. An important paralog of this gene is COL2A1.

UniProtKB/Swiss-Prot Summary for COL1A1 Gene

  • Type I collagen is a member of group I collagen (fibrillar forming collagen).

Gene Wiki entry for COL1A1 Gene

Additional gene information for COL1A1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for COL1A1 Gene

Genomics for COL1A1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for COL1A1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around COL1A1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for COL1A1

Top Transcription factor binding sites by QIAGEN in the COL1A1 gene promoter:
  • AREB6
  • c-Myb
  • GATA-1
  • GR
  • GR-alpha
  • GR-beta
  • HSF1 (long)
  • HSF1short
  • USF-1
  • USF1

Genomic Locations for COL1A1 Gene

Genomic Locations for COL1A1 Gene
chr17:50,184,096-50,201,649
(GRCh38/hg38)
Size:
17,554 bases
Orientation:
Minus strand
chr17:48,260,650-48,279,000
(GRCh37/hg19)
Size:
18,351 bases
Orientation:
Minus strand

Genomic View for COL1A1 Gene

Genes around COL1A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COL1A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COL1A1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for COL1A1 Gene

Proteins for COL1A1 Gene

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  • Protein details for COL1A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P02452-CO1A1_HUMAN
    Recommended name:
    Collagen alpha-1(I) chain
    Protein Accession:
    P02452
    Secondary Accessions:
    • O76045
    • P78441
    • Q13896
    • Q13902
    • Q13903
    • Q14037
    • Q14992
    • Q15176
    • Q15201
    • Q16050
    • Q59F64
    • Q7KZ30
    • Q7KZ34
    • Q8IVI5
    • Q8N473
    • Q9UML6
    • Q9UMM7

    Protein attributes for COL1A1 Gene

    Size:
    1464 amino acids
    Molecular mass:
    138941 Da
    Quaternary structure:
    • Trimers of one alpha 2(I) and two alpha 1(I) chains. Interacts with MRC2 (By similarity). Interacts with TRAM2 (PubMed:14749390). Interacts with MFAP4 in a Ca (2+)-dependent manner (By similarity).
    SequenceCaution:
    • Sequence=BAD92834.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for COL1A1 Gene

neXtProt entry for COL1A1 Gene

Protein Expression for COL1A1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for COL1A1 Gene

  • Contains mostly 4-hydroxyproline. Proline residues at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
  • Contains 3-hydroxyproline at a few sites. This modification occurs on the first proline residue in the sequence motif Gly-Pro-Hyp, where Hyp is 4-hydroxyproline.
  • Lysine residues at the third position of the tripeptide repeating unit (G-X-Y) are 5-hydroxylated in some or all of the chains.
  • O-glycosylated on hydroxylated lysine residues. The O-linked glycan consists of a Glc-Gal disaccharide.
  • Glycosylation at Lys265, Thr478, Lys1108, Thr1234, and Asn1365
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • CO1A1_HUMAN (1125)

Other Protein References for COL1A1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for COL1A1 Gene

Domains & Families for COL1A1 Gene

Gene Families for COL1A1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for COL1A1 Gene

InterPro:
Blocks:
  • Collagen triple helix repeat
  • Collagen helix repeat
  • von Willebrand factor, type C
  • Fibrillar collagen, C-terminal
ProtoNet:

Suggested Antigen Peptide Sequences for COL1A1 Gene

GenScript: Design optimal peptide antigens:
  • Alpha-1 type I collagen (CO1A1_HUMAN)
  • Collagen, type I, alpha 1, isoform CRA_a (D3DTX7_HUMAN)
  • Type I collagen alpha 1(I) chain (O00604_HUMAN)
  • Type I procollagen alpha 1 chain (Q16053_HUMAN)
  • Collagen type I alpha 1 (Q6LAN8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P02452

UniProtKB/Swiss-Prot:

CO1A1_HUMAN :
  • The C-terminal propeptide, also known as COLFI domain, have crucial roles in tissue growth and repair by controlling both the intracellular assembly of procollagen molecules and the extracellular assembly of collagen fibrils. It binds a calcium ion which is essential for its function (By similarity).
  • Belongs to the fibrillar collagen family.
Domain:
  • The C-terminal propeptide, also known as COLFI domain, have crucial roles in tissue growth and repair by controlling both the intracellular assembly of procollagen molecules and the extracellular assembly of collagen fibrils. It binds a calcium ion which is essential for its function (By similarity).
Family:
  • Belongs to the fibrillar collagen family.
genes like me logo Genes that share domains with COL1A1: view

Function for COL1A1 Gene

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  2. CRISPR
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  6. Cell Line

Molecular function for COL1A1 Gene

UniProtKB/Swiss-Prot Function:
Type I collagen is a member of group I collagen (fibrillar forming collagen).
GENATLAS Biochemistry:
collagen type I,alpha 1,fibril forming,putative downregulated c-Myc target gene,

Phenotypes From GWAS Catalog for COL1A1 Gene

Gene Ontology (GO) - Molecular Function for COL1A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002020 protease binding IPI 19932771
GO:0005201 extracellular matrix structural constituent IBA 21873635
GO:0005515 protein binding IEA,IPI 14749390
GO:0030020 extracellular matrix structural constituent conferring tensile strength RCA 20551380
GO:0042802 identical protein binding IEA,IDA 17211858
genes like me logo Genes that share ontologies with COL1A1: view
genes like me logo Genes that share phenotypes with COL1A1: view

Human Phenotype Ontology for COL1A1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for COL1A1 Gene

MGI Knock Outs for COL1A1:
  • Col1a1 Col1a1<tm1(tetO-mCherry)Eggn>
  • Col1a1 Col1a1<tm2Bst>

Animal Model Products

CRISPR Products

miRNA for COL1A1 Gene

miRTarBase miRNAs that target COL1A1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COL1A1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for COL1A1 Gene

Localization for COL1A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COL1A1 Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for COL1A1 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 5
cytoskeleton 4
plasma membrane 3
nucleus 3
cytosol 3
golgi apparatus 3
mitochondrion 2
lysosome 2
peroxisome 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for COL1A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region HDA,TAS --
GO:0005581 collagen trimer IEA --
GO:0005584 collagen type I trimer IBA,IMP 14976317
GO:0005615 extracellular space IEA,IMP 20603131
GO:0005737 cytoplasm IEA,IBA 21873635
genes like me logo Genes that share ontologies with COL1A1: view

Pathways & Interactions for COL1A1 Gene

PathCards logo

SuperPathways for COL1A1 Gene

SuperPathway Contained pathways
1 Collagen chain trimerization
Collagen biosynthesis and modifying enzymes
.75
Collagen formation
.75
Collagen chain trimerization
.67
Assembly of collagen fibrils and other multimeric structures
.65
Intrinsic Prothrombin Activation Pathway
.48
Blood Coagulation Cascade
.46
Protein digestion and absorption
.34
2 Integrin Pathway
FAK1 Signaling
.67
Integrin Pathway
.67
GnRH Signaling
.56
UPA-UPAR Pathway
.56
Inhibition of Angiogenesis by TSP1
.50
Transendothelial Migration of Leukocytes
.38
3 ERK Signaling
ERK Signaling
.61
Rho Family GTPases
.61
MAPK Signaling
.58
Molecular Mechanisms of Cancer
.51
ILK Signaling
.49
4 Focal Adhesion
Focal adhesion
.61
Focal Adhesion
.61
5 PI3K-Akt signaling pathway
Human papillomavirus infection
.31
PI3K-Akt signaling pathway
.31
genes like me logo Genes that share pathways with COL1A1: view

Pathways by source for COL1A1 Gene

8 GeneGo (Thomson Reuters) pathways for COL1A1 Gene
  • Cell adhesion Integrin inside-out signaling
  • Cell adhesion Integrin-mediated cell adhesion and migration
  • Cell adhesion_ECM remodeling
  • Cell adhesion_Endothelial cell contacts by non-junctional mechanisms
  • Cytoskeleton remodeling Integrin outside-in signaling
15 Qiagen pathways for COL1A1 Gene
  • Blood Coagulation Cascade
  • ERK Signaling
  • FAK1 Signaling
  • GnRH Signaling
  • ILK Signaling
1 Cell Signaling Technology pathway for COL1A1 Gene

SIGNOR curated interactions for COL1A1 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for COL1A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development IEA,IMP 1874719
GO:0001503 ossification IEA,IBA 21873635
GO:0001568 blood vessel development IBA,IMP 17211858
GO:0001649 osteoblast differentiation IEA --
GO:0001957 intramembranous ossification IEA --
genes like me logo Genes that share ontologies with COL1A1: view

Drugs & Compounds for COL1A1 Gene

Products:

  1. Drug

(24) Drugs for COL1A1 Gene - From: DrugBank, PharmGKB, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Collagenase Approved, Investigational Pharma Target 0
Von Willebrand Factor Human Approved, Investigational Pharma Target, binder 0
Vonicog Alfa Approved, Investigational Pharma Target, binder 0
Clove oil Approved Nutra Target 0
Somatotropin Approved, Investigational Pharma 0

(17) Additional Compounds for COL1A1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with COL1A1: view

Transcripts for COL1A1 Gene

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mRNA/cDNA for COL1A1 Gene

1 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COL1A1

Alternative Splicing Database (ASD) splice patterns (SP) for COL1A1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^
SP1:
SP2: -
SP3:
SP4:
SP5: - - - - - - - - - - - - - - - - - - - - -
SP6: - - - - - - - - - - - - -
SP7:
SP8:
SP9: - - - - - - - - - - - - - - - - - - - -
SP10:
SP11:
SP12:

ExUns: 19a · 19b ^ 20a · 20b ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39a · 39b ^ 40 ^ 41 ^
SP1:
SP2:
SP3:
SP4:
SP5: -
SP6:
SP7:
SP8:
SP9: - - - - - - - - - - - - - - - - - - - - - - - - - -
SP10:
SP11:
SP12:

ExUns: 42 ^ 43 ^ 44 ^ 45a · 45b ^ 46a · 46b ^ 47 ^ 48a · 48b ^ 49a · 49b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8: -
SP9: - - - -
SP10:
SP11:
SP12:

Relevant External Links for COL1A1 Gene

GeneLoc Exon Structure for
COL1A1

Expression for COL1A1 Gene

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  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for COL1A1 Gene

mRNA expression in normal human tissues for COL1A1 Gene
mRNA expression by GTEx for COL1A1 GenemRNA expression by BioGPS for COL1A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery