Selected-GenAtlas references | SOURCE | GeneCards | NCBI Gene | Swiss-Prot | Orphanet | Ensembl |
HGNC | UniGene | Nucleotide | OMIM | UCSC |
Home Page |
FLASH GENE |
Symbol | COL9A1 | contributors: shn - updated : 23-02-2012 |
HGNC name | collagen, type IX, alpha 1 |
HGNC id | 2217 |
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Corresponding disease |
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Location | 6q13 Physical location : 70.925.743 - 71.012.786 | ||||
Synonym name | |||||
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Synonym symbol(s) | DJ149L1.1.2, MED, FLJ40263, RP1-138F4.2,EDM6, STL4 |
DNA |
TYPE | functioning gene |
STRUCTURE | 87.04 kb 38 Exon(s) |
10 Kb 5' upstream gene genomic sequence study |
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MAPPING | cloned | Y | linked | Y | status | confirmed |
Map | pter - D6S1718 - MFD183 - COL9A1 - D6S1557 - D6S455 - qter |
Authors | Warman (93) |
RNA |
TRANSCRIPTS | type | messenger |
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EXPRESSION |
Type | restricted |
tissue |
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cell lineage
cell lines
| fluid/secretion
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at STAGE |
physiological period | fetal |
Text | cartilage, cochlea |
PROTEIN |
PHYSICAL PROPERTIES
STRUCTURE
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motifs/domains
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conjugated | GlycoP |
mono polymer | heteromer , trimer |
HOMOLOGY |
interspecies | homolog to Col9A1, Mus musculus |
ortholog to col9a1, Danio rerio | |
ortholog to Col9a1, Rattus norvegicus | |
ortholog to COL9A1, Pan troglodytes |
Homologene |
FAMILY | collagen superfamily |
CATEGORY | structural protein |
SUBCELLULAR LOCALIZATION | extracellular |
text | extracellular matrix (cuticles and basement membrane), ocular vitreous body |
basic FUNCTION |
CELLULAR PROCESS | cell organization/biogenesis |
PHYSIOLOGICAL PROCESS | development |
text | skeletal, histogenesis |
PATHWAY |
metabolism |
signaling |
a component | heterotrimerizing with COL9A2 and COL9A3 |
INTERACTION |
DNA |
RNA |
small molecule |
protein | |
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cell & other |
REGULATION |
ASSOCIATED DISORDERS |
corresponding disease(s) | EDM6 , STL4 |
Susceptibility |
Variant & Polymorphism
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Candidate gene
Marker
| Therapy target
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ANIMAL & CELL MODELS |
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