COL1A1
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Homo sapiens |
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COL1A1 is differentially expressed in 364 experiments: 217 organism parts: liver, placenta, ... (215 more);, 276 disease states: normal, glioblastoma, ... (274 more);, 125 cell types 485 cell lines 43 compound treatments and 84 other conditions. |
| Synonyms |
OI4 |
| Orthologs |
ENSCING00000006961
(Ciona intestinalis)
Col1a1
(Mus musculus)
CO1A1_BOVIN
(Bos taurus)
col1a1a
(Danio rerio)
col1a1b
(Danio rerio)
Col1a1
(Rattus norvegicus)
col1a1
(Xenopus laevis)
CO1A1_CANFA
(Canis familiaris)
(Compare orthologs)
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| Gene Ontology Term |
response to hydrogen peroxide, plasma membrane, protein binding, cytoplasm, extracellular space, extracellular matrix structural constituent, visual perception, proteinaceous extracellular matrix, extracellular region, blood coagulation, response to nutrient, identical protein binding, axon guidance, response to cAMP, sensory perception of sound, extracellular matrix, collagen, positive regulation of transcription, DNA-dependent, response to mechanical stimulus, protein transport, positive regulation of epithelial to mesenchymal transition, response to corticosteroid stimulus, cellular response to retinoic acid, cellular response to growth factor stimulus, collagen type I, tooth mineralization, leukocyte migration, collagen fibril organization, endochondral ossification, cellular response to mechanical stimulus, intramembranous ossification, bone trabecula formation, negative regulation of cell-substrate adhesion, positive regulation of canonical Wnt receptor signaling pathway, positive regulation of cell migration, embryonic skeletal system development, osteoblast differentiation, ossification, collagen biosynthetic process, blood vessel development, response to inorganic substance, skin development, response to peptide hormone stimulus, skeletal system development, protein heterotrimerization, platelet-derived growth factor binding, skeletal system morphogenesis, cartilage development involved in endochondral bone morphogenesis, skin morphogenesis, face morphogenesis, platelet activation, protein localization to nucleus, cellular response to amino acid stimulus |
| Gene Ontology ID |
GO:0015031, GO:0009612, GO:0007411, GO:0007584, GO:0007596, GO:0007601, GO:0007605, GO:0042542, GO:0042802, GO:0005615, GO:0005515, GO:0005576, GO:0005578, GO:0005581, GO:0005737, GO:0005886, GO:0031012, GO:0005201, GO:0045893, GO:0051591, GO:0010718, GO:0060351, GO:0060346, GO:0060325, GO:0010035, GO:0031960, GO:0048705, GO:0048706, GO:0048407, GO:0005584, GO:0001958, GO:0001957, GO:0032964, GO:0001568, GO:0001503, GO:0001501, GO:0043589, GO:0043588, GO:0001649, GO:0043434, GO:0030168, GO:0070208, GO:0030199, GO:0071300, GO:0071363, GO:0071260, GO:0030335, GO:0050900, GO:0090263, GO:0034504, GO:0034505, GO:0010812, GO:0071230 |
| InterPro Term |
VWF_C, Collagen, Fib_collagen_C |
| InterPro ID |
IPR001007, IPR008160, IPR000885 |
| Ensembl Family Description |
COLLAGEN ALPHA I CHAIN PRECURSOR ALPHA TYPE I COLLAGEN |
| Ensembl Family |
ENSFM00250000000184 |
| Gene-Disease Assocation |
OSTEOGENESIS IMPERFECTA, TYPE IV, EHLERS-DANLOS SYNDROME, TYPE I, CAFFEY DISEASE, OSTEOPOROSIS, EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT, OSTEOGENESIS IMPERFECTA, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE III, DERMATOFIBROSARCOMA PROTUBERANS; DFSP, OSTEOGENESIS IMPERFECTA, TYPE II |
| EMBL-Bank ID |
J00110, J00111, J00112, J00113, L47667, J03559, M55998, AF017178, BC036531, M32798, X06269, M10627, X00820, S64596, AB209597, J02829, M20789, S58915, K03179, Z74615, M36546, CH471109, X98705, K01228, M11162, X07884, M23213 |
| UniGene ID |
Hs.172928, Hs.600888, Hs.727814 |
| HGNC Symbol |
COL1A1 |
| UniProt Accession |
Q9UMA6, Q6LAN8, D3DTX7, P02452 |
| Entrez Gene ID |
1277 |
| Ensembl Protein ID |
ENSP00000225964 |
| Ensembl Gene ID |
ENSG00000108821 |
| RefSeq ID |
NP_000079, NM_000088 |
| Description |
collagen, type I, alpha 1 [Source:HGNC Symbol;Acc:2197] |
| Ensembl Transcript ID |
ENST00000495677, ENST00000507689, ENST00000476387, ENST00000485870, ENST00000510710, ENST00000471344, ENST00000463440, ENST00000225964, ENST00000486572, ENST00000504289, ENST00000494334, ENST00000474644, ENST00000511732 |
| Design Element |
M55998_s_at, ENST00000485870, Hs.172928.0.A1_3p_a_at, 217430_x_at, ENST00000471344, 202311_s_at, ENST00000510710, ENST00000225964, ENST00000511732, ENST00000476387, Z74615_at, ENST00000507689, ENST00000495677, 202310_s_at, ENST00000486572, Hs2.433191.1.A1_3p_s_at, 1556499_s_at, 35474_s_at, ENST00000494334, 202312_s_at, Hs.172928.0.A2_3p_a_at, ENST00000463440, g4502944_3p_a_at, ENST00000474644, 35473_at, 217430_3p_x_at, ENST00000504289 |
| Search EB-eye |
ENSG00000108821
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