Bos taurus Gene: COL1A1

Summary
InnateDB Gene IDBG-638637.2
Last Modified 2013-04-25   [Report errors or provide feedback]
Gene Symbol COL1A1
Gene Name Collagen alpha-1(I) chain
Synonyms
Species Bos taurus
Ensembl Gene ENSBTAG00000013103
Encoded Proteins
IDBP-690737 Collagen alpha-1(I) chain
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000108821:
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 19: 37088246-37104998
Strand Forward strand
Band 0
Transcripts
ENSBTAT00000017420  ENSBTAP00000017420
Interactions
Number of Interactions   This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
They are also associated with 23 interaction(s) predicted by orthology.
Experimentally validated
Total 1 [view]
Protein‑Protein  1
[view]
Protein‑DNA 0
Protein‑RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
 
Predicted by orthology
Total 23 [view]
Gene Ontology
Accession GO Term
Molecular Function
GO:0005102 receptor binding
GO:0005201 extracellular matrix structural constituent
GO:0005515 protein binding
GO:0042802 identical protein binding
GO:0048407 platelet-derived growth factor binding
Biological Process
GO:0001501 skeletal system development
GO:0001568 blood vessel development
GO:0001649 osteoblast differentiation
GO:0001957 intramembranous ossification
GO:0001958 endochondral ossification
GO:0007165 signal transduction
GO:0007601 visual perception
GO:0007605 sensory perception of sound
GO:0010718 positive regulation of epithelial to mesenchymal transition
GO:0010812 negative regulation of cell-substrate adhesion
GO:0015031 protein transport
GO:0030199 collagen fibril organization
GO:0030335 positive regulation of cell migration
GO:0032964 collagen biosynthetic process
GO:0034504 protein localization to nucleus
GO:0034505 tooth mineralization
GO:0043588 skin development
GO:0043589 skin morphogenesis
GO:0045893 positive regulation of transcription, DNA-dependent
GO:0048705 skeletal system morphogenesis
GO:0048706 embryonic skeletal system development
GO:0060325 face morphogenesis
GO:0060346 bone trabecula formation
GO:0060351 cartilage development involved in endochondral bone morphogenesis
GO:0070208 protein heterotrimerization
GO:0071230 cellular response to amino acid stimulus
GO:0071260 cellular response to mechanical stimulus
GO:0090263 positive regulation of canonical Wnt receptor signaling pathway
Cellular Component
GO:0005576 extracellular region
GO:0005578 proteinaceous extracellular matrix
GO:0005581 collagen
GO:0005584 collagen type I
GO:0005615 extracellular space
GO:0005737 cytoplasm
GO:0031012 extracellular matrix
Orthologs
Species
Homo sapiens
Mus musculus
Gene ID Gene Order Method Confidence Comments
ENSG00000108821 Ortholuge SSD Ortholog Ortholog supports species divergence
ENSMUSG00000001506 Ortholuge SSD Ortholog Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
INOH
PID BIOCARTA
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
REACT_121139 Collagen biosynthesis and modifying enzymes
REACT_13552 Integrin cell surface interactions
KEGG
hsa05146  Amoebiasis
hsa04512  ECM-receptor interaction
hsa04510  Focal adhesion
hsa04974  Protein digestion and absorption
INOH
INOH website Integrin signaling pathway
PID BIOCARTA
PID NCI
integrin1_pathway Beta1 integrin cell surface interactions
integrin3_pathway Beta3 integrin cell surface interactions
Collagen_adhesion_via_Gp_IV Collagen adhesion via Gp IV
Collagen_adhesion_via_alpha_2_beta_1_glycoprotein Collagen adhesion via alpha 2 beta 1 glycoprotein
il4_2pathway IL4-mediated signaling events
Integrin_cell_surface_interactions Integrin cell surface interactions
lymphangiogenesis_pathway VEGFR3 signaling in lymphatic endothelium
Cross-References
SwissProt P02453 
TrEMBL Q95ND8
UniProt Splice Variant
Entrez Gene 282187 
UniGene Bt.23316
RefSeq NM_001034039 
HUGO
OMIM
CCDS
HPRD
IMGT
EMBL AJ312109 AJ312110 AJ312111 AJ312112 BC105184
GenPept AAI05185  CAC38832 
ImmGen COL1A1 (murine) 
RNA Seq Atlas 282187 
Transcript Frequencies
Tag Count based mRNA-Abundances across 87 different Tissues (TPM).

Based on Data from Bovine Gene Atlas

Tag Count based mRNA-Abundances across 87 different Tissues (TPM)

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