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COL1A1 collagen, type I, alpha 1 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000088 Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA. GenEZ ORF Cloning On-demand $1699.00 25
XM_005257058 PREDICTED: Homo sapiens collagen, type I, alpha 1 (COL1A1), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand $1699.00 25
XM_005257059 PREDICTED: Homo sapiens collagen, type I, alpha 1 (COL1A1), transcript variant X2, mRNA. GenEZ ORF Cloning On-demand $1699.00 25
XM_006721703 PREDICTED: Homo sapiens collagen, type I, alpha 1 (COL1A1), transcript variant X3, mRNA. GenEZ ORF Cloning On-demand $1699.00 25

*Business Day

Related Services

Gene Symbol COL1A1
Entrez Gene ID 1277
Full Name collagen, type I, alpha 1
Synonyms OI4
General protein information
Preferred Names
collagen alpha-1(I) chain
Names
collagen alpha-1(I) chain
alpha-1 type I collagen
pro-alpha-1 collagen type 1
collagen alpha 1 chain type I
collagen alpha-1(I) chain preproprotein
collagen of skin, tendon and bone, alpha-1 chain
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

17

17q21.33

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].
Disorder

MIM: 120150

Osteogenesis imperfecta, type I, 166200 (3); OI type II, 166210 (3);

mRNA Protein Product Sequence Price Select
NM_000088, 110349771 NP_000079, 110349772 collagen alpha-1(I) chain preproprotein ORF Sequence $1500.00
XM_005257058, 578830421 XP_005257115, 578830422 collagen alpha-1(I) chain isoform X1 ORF Sequence $1500.00
XM_005257059, 578830423 XP_005257116, 578830424 collagen alpha-1(I) chain isoform X2 ORF Sequence $1500.00
XM_006721703, 578830425 XP_006721766, 578830426 collagen alpha-1(I) chain isoform X3 ORF Sequence $1500.00
KEGG
hsa04510Focal adhesion
hsa04512ECM-receptor interaction
hsa05146Amoebiasis
hsa04974Protein digestion and absorption
hsa04151PI3K-Akt signaling pathway
hsa04611Platelet activation
WikiPathways
WP453Inflammatory Response Pathway
WP615Senescence and Autophagy
WP322Osteoblast Signaling
Pathway Interaction Database
lymphangiogenesis_pathwayVEGFR3 signaling in lymphatic endothelium
il4_2pathwayIL4-mediated signaling events
Reactome
REACT_118779Extracellular matrix organization
REACT_120729Collagen formation
REACT_121139Collagen biosynthesis and modifying enzymes
REACT_163699Scavenging by Class A Receptors
REACT_150180Assembly of collagen fibrils and other multimeric structures
REACT_160300Binding and Uptake of Ligands by Scavenger Receptors
Homo sapiens (human)COL1A1NP_000079.2
Pan troglodytes (chimpanzee)COL1A1XP_001169409.1
Macaca mulatta (Rhesus monkey)COL1A1XP_001096194.2
Canis lupus familiaris (dog)COL1A1NP_001003090.1
Bos taurus (cattle)COL1A1NP_001029211.1
Mus musculus (house mouse)Col1a1NP_031768.2
Rattus norvegicus (Norway rat)Col1a1NP_445756.1
Danio rerio (zebrafish)col1a1aNP_954684.1
Xenopus (Silurana) tropicalis (western clawed frog)LOC496414NP_001011005.1
Process
IDNameEvidence
GO:0001501skeletal system developmentIMP
GO:0001568blood vessel developmentIMP
GO:0001649osteoblast differentiationIEA
GO:0001957intramembranous ossificationIEA
GO:0001958endochondral ossificationIEA
GO:0007584response to nutrientIEA
GO:0007596blood coagulationTAS
GO:0007601visual perceptionIMP
GO:0007605sensory perception of soundIMP
GO:0010718positive regulation of epithelial to mesenchymal transitionIDA
GO:0010812negative regulation of cell-substrate adhesionIEA
GO:0015031protein transportIEA
GO:0022617extracellular matrix disassemblyTAS
GO:0030168platelet activationTAS
GO:0030198extracellular matrix organizationTAS
GO:0030199collagen fibril organizationIMP
GO:0030335positive regulation of cell migrationIDA
GO:0030574collagen catabolic processTAS
GO:0031960response to corticosteroidIEA
GO:0032355response to estradiolIEA
GO:0032964collagen biosynthetic processIMP
GO:0034504protein localization to nucleusIDA
GO:0034505tooth mineralizationIMP
GO:0042542response to hydrogen peroxideIEA
GO:0043434response to peptide hormoneIEA
GO:0043589skin morphogenesisIMP
GO:0045893positive regulation of transcription, DNA-templatedIDA
GO:0048706embryonic skeletal system developmentIMP
GO:0050900leukocyte migrationTAS
GO:0051591response to cAMPIEA
GO:0060325face morphogenesisIEA
GO:0060346bone trabecula formationIEA
GO:0060351cartilage development involved in endochondral bone morphogenesisIEA
GO:0070208protein heterotrimerizationIEA
GO:0071230cellular response to amino acid stimulusIEA
GO:0071260cellular response to mechanical stimulusIEA
GO:0071300cellular response to retinoic acidIEA
GO:0071560cellular response to transforming growth factor beta stimulusIEA
GO:0090263positive regulation of canonical Wnt signaling pathwayIDA
Component
IDNameEvidence
GO:0005576extracellular regionTAS
GO:0005584collagen type I trimerIMP
GO:0005615extracellular spaceIDA
GO:0005788endoplasmic reticulum lumenTAS
GO:0031012extracellular matrixIDA
GO:0031012extracellular matrixISS
Function
IDNameEvidence
GO:0005201extracellular matrix structural constituentIEA
GO:0005515protein bindingIPI
GO:0042802identical protein bindingIDA
GO:0046872metal ion bindingIEA
GO:0048407platelet-derived growth factor bindingIDA
GeneCards COL1A1
PDB 1Q7D, 3GXE, 2LLP, 3EJH
UniProt P02452
Vega OTTHUMG00000148674
MIM 120150
Ensembl ENSG00000108821
HGNC 2197
HPRD 00362

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the COL1A1 gene?

The COL1A1 gene provides instructions for making part of a large molecule called type I collagen. Collagens are a family of proteins that strengthen and support many tissues in the body, including cartilage, bone, tendon, skin, and the white part of the eye (the sclera). Type I collagen is the most abundant form of collagen in the human body.

The COL1A1 gene produces a component of type I collagen called the pro-α1(I) chain. Collagens begin as procollagen molecules, which must be processed by enzymes outside the cell to remove extra protein segments from their ends. Each rope-like procollagen molecule is made up of three chains: two pro-α1(I) chains, which are produced from the COL1A1 gene, and one pro-α2(I) chain, which is produced from the COL1A2 gene.

After procollagens are processed, the resulting mature collagen molecules arrange themselves into long, thin fibrils. Individual collagen molecules are cross-linked to one another within these fibrils. The formation of cross-links results in very strong type I collagen fibrils, which are found in the spaces around cells.

Interactant

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