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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

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Related Services

Gene Symbol COL1A1
Entrez Gene ID 1277
Full Name collagen, type I, alpha 1
Synonyms OI4
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
KEGG
hsa04151PI3K-Akt signaling pathway
hsa05146Amoebiasis
hsa04512ECM-receptor interaction
hsa04974Protein digestion and absorption
hsa04510Focal adhesion
WikiPathways
WP453Inflammatory Response Pathway
WP615Senescence and Autophagy
WP306Focal Adhesion
WP322Osteoblast Signaling
Pathway Interaction Database
lymphangiogenesis_pathwayVEGFR3 signaling in lymphatic endothelium
il4_2pathwayIL4-mediated signaling events
Reactome
REACT_18334NCAM signaling for neurite out-growth
REACT_18266Axon guidance
REACT_16888Signaling by PDGF
REACT_12051Cell surface interactions at the vascular wall
REACT_604Hemostasis
REACT_1230Platelet Adhesion to exposed collagen
REACT_118779Extracellular matrix organization
REACT_111102Signal Transduction
REACT_18312NCAM1 interactions
REACT_120729Collagen formation
REACT_13552Integrin cell surface interactions
REACT_121139Collagen biosynthesis and modifying enzymes
REACT_798Platelet activation, signaling and aggregation
REACT_111045Developmental Biology
REACT_1695GPVI-mediated activation cascade
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
GeneCards COL1A1
PDB 1Q7D, 3GXE, 2LLP, 3EJH
UniProt P02452
MIM 120150
Ensembl ENSG00000108821
HGNC 2197
HPRD 00362

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

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

Interactant



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