COL1A1

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].

Loading, please wait...
Name
OMIM ID
Ensembl ID
HGNC ID
PHARMGKB ID
Map Location
Namecollagen type I alpha 1 chain
OMIM IDMIM:120150
Ensembl IDEnsembl:ENSG00000108821
HGNC IDHGNC:HGNC:2197
PHARMGKB IDPA35041
Map Location17q21.33

GO terms in COL1A1


Loading, please wait...
Term Type
Evidence Type
GO Term ID
GO Des.
MF IPI GO:0002020 protease binding
MF IBA GO:0005201 extracellular matrix structural constituent
MF IPI GO:0005515 protein binding
MF HDA GO:0030020 extracellular matrix structural constituent conferring tensile strength
MF ISS GO:0030020 extracellular matrix structural constituent conferring tensile strength
MF IDA GO:0042802 identical protein binding
Showing 1 to 6 of 76 rows rows per page

Gene expression in normal tissue: COL1A1

Gene-model tissue-cancer distribution: Bubble Plot

BOWEtissue: BOWE cancer: BOWEL model num: 0BOWELtissue: BOWEL cancer: undefined model num: 11undefinetissue: undefine cancer: undefined model num: 0undefinedtissue: undefined cancer: PANCAN model num: 36LUNtissue: LUN cancer: LUNG model num: 0LUNGtissue: LUNG cancer: undefined model num: 3OVARtissue: OVAR cancer: OVARY model num: 0OVARYtissue: OVARY cancer: undefined model num: 10

Gene-drug pathway distribution

undefined16Cell cycle2PI3K/MTOR signaling1Other, kinases1Apoptosis regulation1Purine metabolism1

Pathways in COL1A1


Loading, please wait...
Database
Pathway ID
Pathway Des.
smpdb SMP00268 Warfarin Action Pathway
smpdb SMP00269 Acenocoumarol Action Pathway
smpdb SMP00270 Dicumarol Action Pathway
smpdb SMP00271 Phenprocoumon Action Pathway
smpdb SMP00272 Enoxaparin Action Pathway
smpdb SMP00273 Fondaparinux Action Pathway
Showing 1 to 6 of 95 rows rows per page

Gene-Drug: Aster Plot


Loading, please wait...
Drug ID
Drug Name
Model Num.
iGMDRD318 PAC-1 2
iGMDRD213 SMR000068650 3
iGMDRD105 Triptolide 3
iGMDRD6 AM-580 5
Showing 1 to 4 of 22 rows rows per page

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in COL1A1

Loading, please wait...
Model
Level
Reference ID
Tissue
Cancer
Drug
Clinical Response
Source
No matching records found

​​​​

SITE
DATATYPES
CLASSFICATION
Map

Copyright © 2018 Modellab | All Rights Reserved

Disclaimer: iGMDR is intended for research purposes only. Its information cannot be used for emergencies or medical or professional advice.