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Aliases for COL1A1 Gene

Aliases for COL1A1 Gene

  • Collagen Type I Alpha 1 Chain 2 3 5
  • Collagen, Type I, Alpha 1 2 3
  • Alpha-1 Type I Collagen 3 4
  • 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
  • Collagen Alpha-1(I) Chain 3
  • Alpha1(I) Procollagen 3
  • Type I Proalpha 1 3
  • EDSARTH1 3
  • EDSC 3
  • OI1 3
  • OI2 3
  • OI3 3
  • OI4 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 ERK Signaling. 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 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 , fRNAdb sequence ontologies and piRNA Summary for COL1A1 Gene

Genomics for COL1A1 Gene

GeneHancer (GH) Regulatory Elements for COL1A1 Gene

Promoters and enhancers for COL1A1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17I050171 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 566.9 +9.1 9126 42 CLOCK DMAP1 YBX1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 MEF2D COL1A1 SGCA ENSG00000262837 LUC7L3 TMEM92-AS1 TMEM92 XYLT2 ZNF652 PPP1R9B FLJ45513
GH17I051152 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE 27.9 -952.0 -952031 2.9 CLOCK MLX ZFP64 FEZF1 DMAP1 YBX1 IRF4 YY1 SLC30A9 ZNF213 NME1 NME1-NME2 MBTD1 LUC7L3 UTP18 COL1A1 EME1 NME2 LOC105371824 CACNA1G-AS1
GH17I049758 Promoter/Enhancer 2.7 VISTA EPDnew Ensembl ENCODE dbSUPER 19.5 +439.7 439699 6.4 HDGF PKNOX1 CLOCK ARNT ARID4B SIN3A ZNF2 IRF4 YY1 POLR2B FAM117A ENSG00000262837 UBE2Z LUC7L3 FLJ45513 SPOP COL1A1 TAC4 SLC35B1 ITGA3
GH17I050262 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 16.4 -67.5 -67532 13.4 HDGF PKNOX1 SIN3A ZBTB7B ZNF143 ZNF263 MCM3 SP3 MXD4 REST TMEM92 LUC7L3 MBTD1 ENSG00000262837 COL1A1 LOC105371824 MYCBPAP SPATA20 FAM117A FLJ45513
GH17I050046 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.2 +144.7 144734 21.3 HDGF PKNOX1 CLOCK SMAD1 FOXA2 SIN3A FEZF1 ZBTB7B ZNF213 ZNF143 ITGA3 PICART1 ENSG00000262837 LUC7L3 FAM117A FLJ45513 PDK2 ENSG00000250282 LOC105371824 COL1A1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around COL1A1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the COL1A1 gene promoter:

Genomic Locations for COL1A1 Gene

Genomic Locations for COL1A1 Gene
chr17:50,183,289-50,201,648
(GRCh38/hg38)
Size:
18,360 bases
Orientation:
Minus strand
chr17:48,260,650-48,279,000
(GRCh37/hg19)

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 StructureGene Density

RefSeq DNA sequence for COL1A1 Gene

Proteins for COL1A1 Gene

  • 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=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for COL1A1 Gene

neXtProt entry for COL1A1 Gene

Post-translational modifications for COL1A1 Gene

  • 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.
  • 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.
  • 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 posLast=265265, posLast=478478, Lys1108, Thr1234, and posLast=13651365
  • Modification sites at PhosphoSitePlus

Other Protein References for COL1A1 Gene

Antibody Products

  • R&D Systems Antibodies for COL1A1 (Collagen I alpha 1)

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
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

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

Molecular function for COL1A1 Gene

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

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 IEA --
GO:0005515 protein binding IPI 14749390
GO:0042802 identical protein binding IDA 17211858
GO:0046872 metal ion binding IEA --
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:

Animal Model Products

miRNA for COL1A1 Gene

miRTarBase miRNAs that target COL1A1

Clone Products

  • R&D Systems cDNA Clones for COL1A1 (Collagen I alpha 1)

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 3
nucleus 3
cytosol 3
plasma membrane 2
golgi apparatus 2
lysosome 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 TAS,IDA --
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005581 collagen trimer IEA --
GO:0005584 collagen type I trimer IEA,IMP 14976317
GO:0005615 extracellular space IMP,IEA 20603131
genes like me logo Genes that share ontologies with COL1A1: view

Pathways & Interactions for COL1A1 Gene

genes like me logo Genes that share pathways with COL1A1: view

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 IMP 1874719
GO:0001503 ossification IEA --
GO:0001568 blood vessel development IEA,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

(21) 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
calcium Approved Nutra 0
Somatotropin Approved, Investigational Pharma 0
Valproic Acid Approved, Investigational Pharma HDAC1 inhibitor, Histone deacetylase (HDAC)inhibitors 333
Halofuginone Investigational, Vet_approved Pharma Target 5

(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

Unigene Clusters for COL1A1 Gene

Collagen, type I, alpha 1:
Representative Sequences:

Clone Products

  • R&D Systems cDNA Clones for COL1A1 (Collagen I alpha 1)

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
ECgene alternative splicing isoforms for
COL1A1

Expression for COL1A1 Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for COL1A1 Gene

This gene is overexpressed in Amniocyte (36.6), Bone marrow stromal cell (6.9), and Urinary Bladder (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for COL1A1 Gene



Protein tissue co-expression partners for COL1A1 Gene