COL1A1

COL1A1
Structures disponibles PDB Recherche d'orthologue : PDBe RCSB Identifiants PDB 3GXE, 1Q7D, 2LLP, 3EJH
Identifiants
Alias	COL1A1
IDs externes	OMIM: 120150 MGI: 88467 HomoloGene: 73874 GeneCards: COL1A1
Position du gène (humain) Chr. Chromosome 17 humain[1] Locus 17q21.33 Début 50,184,101 bp[1] Fin 50,201,632 bp[1]
Position du gène (souris) Chr. Chromosome 11 (souris)[2] Locus 11 59.01 cM|11 D Début 94,827,050 bp[2] Fin 94,843,868 bp[2]
Expression génique Bgee Humain Souris (orthologue) Fortement exprimé dans stromal cell of endometrium skin of hip ligament alvéolo-dentaire vésicule biliaire tendon of biceps brachii mucosa of paranasal sinus tibia cartilage tissue skin of thigh parietal pleura Fortement exprimé dans corps du fémur cheville tibiofemoral joint molaire cordon ombilical efferent ductule skin of back fosse aorte ascendante calvaria Plus de données d'expression de référence BioGPS Plus de données d'expression de référence
Gene Ontology Fonction moléculaire liaison ion métal identical protein binding platelet-derived growth factor binding extracellular matrix structural constituent liaison protéique liaison de protéase extracellular matrix structural constituent conferring tensile strength Composant cellulaire endoplasmic reticulum lumen cytoplasme appareil de Golgi réticulum endoplasmique collagène secretory granule matrice extracellulaire milieu extracellulaire collagène type I région extracellulaire collagen-containing extracellular matrix Processus biologique cellular response to tumor necrosis factor coagulation sanguine éruption dentaire response to mechanical stimulus response to corticosteroid negative regulation of cell-substrate adhesion response to steroid hormone extracellular matrix organization osteoblast differentiation collagen fibril organization skin morphogenesis bone trabecula formation cicatrisation skin development ossification endoconjonctive positive regulation of cell migration tooth mineralization cellular response to epidermal growth factor stimulus cellular response to fibroblast growth factor stimulus response to estradiol collagen catabolic process response to cAMP cellular response to vitamin E response to fluoride cartilage development involved in endochondral bone morphogenesis ouïe response to peptide hormone cellular response to retinoic acid cellular response to transforming growth factor beta stimulus regulation of immune response cellular response to fluoride régulation positive de la transcription dépendante de l'ADN leukocyte migration collagen biosynthetic process protein heterotrimerization cellular response to amino acid stimulus ossification endochondrale response to hyperoxia face morphogenesis protein transport response to nutrient platelet activation vue positive regulation of epithelial to mesenchymal transition response to hydrogen peroxide embryonic skeletal system development skeletal system morphogenesis ostéogenèse response to nutrient levels positive regulation of canonical Wnt signaling pathway protein localization to nucleus cellular response to mechanical stimulus skeletal system development blood vessel development collagen-activated tyrosine kinase receptor signaling pathway Sources:Amigo / QuickGO
Orthologues Espèces Homme Souris Entrez 1277 12842 Ensembl ENSG00000108821 ENSMUSG00000001506 UniProt P02452 P11087 RefSeq (mRNA) NM_000088 NM_007742 RefSeq (protéine) NP_000079 NP_031768 Localisation (UCSC) Chr 17: 50.18 – 50.2 Mb Chr 11: 94.83 – 94.84 Mb Publication PubMed [3] [4]
Wikidata
Voir/Editer Humain Voir/Editer Souris

Le COL1A1 est un gène situé sur le chromosome 17 humain codant les chaines pro-alpha 1 du collagène de type I (en)^[5],[6],[7].

• Syndrome d'Ehlers-Danlos^[8]
  • Type classique^[9]
  • Type arthro-chalasique^[9]
• Ostéogenèse imparfaite^[8]
  • Type 1
  • Type 2
  • Type 3
  • Type 4
• Maladie de Caffey (hyperostose corticale infantile)^[8]
• Dermatofibrosarcome de Darier-Ferrand^[8]

• COL1A2

• Portail de la biologie cellulaire et moléculaire
• Portail de la médecine