COL1A1
Gene Information
- Official Symbol: COL1A1
- Official Name: collagen type I alpha 1 chain
- Aliases and Previous Symbols: N/A
- Entrez ID: 1277
- UniProt: P02452
- Interactions: BioGRID
- PubMed articles: Open PubMed
- OMIM: Open OMIM
Function Summary
- Entrez 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].
- UniProt Summary: N/A
Pfam Domains GO Terms
Pfam Domains
| VWC |
| Collagen |
| COLFI |
GO Terms
| cellular response to fluoride |
| cellular response to vitamin E |
| collagen type I trimer |
| response to fluoride |
| direct ossification |
| intramembranous ossification |
| tooth eruption |
| bone trabecula formation |
| collagen biosynthetic process |
| skin morphogenesis |
| collagen-activated tyrosine kinase receptor signaling pathway |
| bone trabecula morphogenesis |
| platelet-derived growth factor binding |
| response to vitamin E |
| collagen-activated signaling pathway |
| protein heterotrimerization |
| tooth mineralization |
| response to hyperoxia |
| trabecula formation |
| cellular response to vitamin |
| replacement ossification |
| response to increased oxygen levels |
| endochondral ossification |
| face morphogenesis |
| head morphogenesis |
| extracellular matrix structural constituent conferring tensile strength |
| cellular response to epidermal growth factor stimulus |
| body morphogenesis |
| trabecula morphogenesis |
| cartilage development involved in endochondral bone morphogenesis |
| response to epidermal growth factor |
| collagen fibril organization |
| positive regulation of epithelial to mesenchymal transition |
| face development |
| protein trimerization |
| negative regulation of cell-substrate adhesion |
| collagen metabolic process |
| cellular response to nutrient |
| cellular response to retinoic acid |
| cellular response to amino acid stimulus |
| endochondral bone morphogenesis |
| cellular response to mechanical stimulus |
| regulation of epithelial to mesenchymal transition |
| response to vitamin |
| secretory granule |
| biomineralization |
| biomineral tissue development |
| response to cAMP |
| protease binding |
| protein heterooligomerization |
| response to retinoic acid |
| cellular response to fibroblast growth factor stimulus |
| bone morphogenesis |
| response to amino acid |
| response to fibroblast growth factor |
| response to hydrogen peroxide |
| odontogenesis |
| embryonic skeletal system development |
| osteoblast differentiation |
| extracellular matrix structural constituent |
| response to estradiol |
| response to organophosphorus |
| platelet activation |
| positive regulation of canonical Wnt signaling pathway |
| sensory perception of sound |
| response to purine-containing compound |
| cellular response to transforming growth factor beta stimulus |
| response to corticosteroid |
| response to transforming growth factor beta |
| protein localization to nucleus |
| sensory perception of mechanical stimulus |
| cartilage development |
| positive regulation of Wnt signaling pathway |
| response to reactive oxygen species |
| bone development |
| cellular response to acid chemical |
| regulation of cell-substrate adhesion |
| response to mechanical stimulus |
| response to nutrient |
| visual perception |
| sensory perception of light stimulus |
| connective tissue development |
| extracellular matrix |
| cellular response to nutrient levels |
| skeletal system morphogenesis |
| cellular response to tumor necrosis factor |
| ossification |
| response to tumor necrosis factor |
| cellular response to extracellular stimulus |
| negative regulation of cell adhesion |
| regulation of canonical Wnt signaling pathway |
| blood coagulation |
| coagulation |
| hemostasis |
| response to antibiotic |
| endoplasmic reticulum lumen |
| cellular response to environmental stimulus |
| cellular response to abiotic stimulus |
| response to steroid hormone |
| cellular response to external stimulus |
| extracellular matrix organization |
| response to acid chemical |
| regulation of Wnt signaling pathway |
| collagen-containing extracellular matrix |
| leukocyte migration |
| response to oxygen levels |
| skin development |
| response to oxidative stress |
| extracellular structure organization |
| response to peptide hormone |
| supramolecular fiber organization |
| response to peptide |
| wound healing |
| blood vessel development |
| skeletal system development |
| regulation of body fluid levels |
| response to nutrient levels |
| positive regulation of cell migration |
| cellular response to growth factor stimulus |
| response to toxic substance |
| transmembrane receptor protein tyrosine kinase signaling pathway |
| vasculature development |
| cardiovascular system development |
| protein complex oligomerization |
| cellular response to lipid |
| positive regulation of cell motility |
| response to extracellular stimulus |
| response to growth factor |
| response to inorganic substance |
| positive regulation of cellular component movement |
| cellular response to organic cyclic compound |
| positive regulation of locomotion |
| response to wounding |
| cellular response to organonitrogen compound |
| chordate embryonic development |
| embryo development ending in birth or egg hatching |
| cellular response to nitrogen compound |
| regulation of cell adhesion |
| enzyme linked receptor protein signaling pathway |
| protein localization to organelle |
| head development |
| regulation of cell migration |
| response to lipid |
| circulatory system development |
| anatomical structure formation involved in morphogenesis |
| response to hormone |
| regulation of cell motility |
| response to organic cyclic compound |
| animal organ morphogenesis |
| cell migration |
| positive regulation of cell differentiation |
| sensory perception |
| embryo development |
| regulation of locomotion |
| Golgi apparatus |
| regulation of cellular component movement |
| response to organonitrogen compound |
| cellular response to cytokine stimulus |
| response to drug |
| cellular response to oxygen-containing compound |
| identical protein binding |
| cell activation |
| cell motility |
| localization of cell |
| response to nitrogen compound |
| response to cytokine |
| regulation of immune response |
| response to abiotic stimulus |
| cellular response to endogenous stimulus |
| locomotion |
| positive regulation of developmental process |
| nervous system process |
| response to endogenous stimulus |
| protein transport |
| peptide transport |
| positive regulation of transcription, DNA-templated |
| movement of cell or subcellular component |
| response to oxygen-containing compound |
| protein-containing complex assembly |
| amide transport |
| cellular protein localization |
| cellular macromolecule localization |
| extracellular space |
| establishment of protein localization |
| positive regulation of nucleic acid-templated transcription |
| positive regulation of RNA biosynthetic process |
| regulation of immune system process |
| positive regulation of signal transduction |
| positive regulation of RNA metabolic process |
| positive regulation of multicellular organismal process |
| tissue development |
| regulation of cell differentiation |
| positive regulation of cell communication |
| positive regulation of signaling |
| nitrogen compound transport |
| protein-containing complex subunit organization |
| positive regulation of nucleobase-containing compound metabolic process |
| positive regulation of macromolecule biosynthetic process |
| extracellular region |
| system process |
| positive regulation of cellular biosynthetic process |
| positive regulation of gene expression |
| positive regulation of biosynthetic process |
CRISPR Data
Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)
Compound Hit
| Screen | Score |
|---|---|
| NMS-873 0.07μM R07 exp380 | 1.73 |
| Cincreasin 100μM R08 exp473 | 1.8 |
Most Correlated Genes in Chemogenomics
No correlation found to any other genes in chemogenomics.
Tissues where Essential in the Avana Dataset (DepMap 20Q1)
Global Fraction of Cell Lines Where Essential: 0/739
| Tissue | Fraction Of Cell Lines Where Essential |
|---|---|
| 1290807.0 | 0/1 |
| 909776.0 | 0/1 |
| bile duct | 0/28 |
| blood | 0/28 |
| bone | 0/26 |
| breast | 0/33 |
| central nervous system | 0/56 |
| cervix | 0/4 |
| colorectal | 0/17 |
| esophagus | 0/13 |
| fibroblast | 0/1 |
| gastric | 0/16 |
| kidney | 0/21 |
| liver | 0/20 |
| lung | 0/75 |
| lymphocyte | 0/16 |
| ovary | 0/26 |
| pancreas | 0/24 |
| peripheral nervous system | 0/16 |
| plasma cell | 0/15 |
| prostate | 0/1 |
| skin | 0/24 |
| soft tissue | 0/9 |
| thyroid | 0/2 |
| upper aerodigestive | 0/22 |
| urinary tract | 0/29 |
| uterus | 0/5 |
Essentiality in NALM6
- Essentiality Rank: 8601
- Expression level (log2 read counts): 2.0
Expression Distribution
COL1A1 Expression in NALM6 Cells: 2.0
