ENSG00000196739


Homo sapiens

Features
Gene ID: ENSG00000196739
  
Biological name :COL27A1
  
Synonyms : COL27A1 / collagen type XXVII alpha 1 chain / Q8IZC6
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 9
Strand: 1
Band: q32
Gene start: 114155560
Gene end: 114312511
  
Corresponding Affymetrix probe sets: 1564008_at (Human Genome U133 Plus 2.0 Array)   225288_at (Human Genome U133 Plus 2.0 Array)   225292_at (Human Genome U133 Plus 2.0 Array)   225293_at (Human Genome U133 Plus 2.0 Array)   230603_at (Human Genome U133 Plus 2.0 Array)   237452_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000348385
Ensembl peptide - ENSP00000391328
Ensembl peptide - ENSP00000432928
NCBI entrez gene - 85301     See in Manteia.
OMIM - 608461
RefSeq - XM_011519145
RefSeq - NM_032888
RefSeq - XM_011519140
RefSeq - XM_011519142
RefSeq - XM_011519143
RefSeq - XM_011519144
RefSeq - XM_006717308
RefSeq - XM_006717310
RefSeq - XM_011519138
RefSeq Peptide - NP_116277
swissprot - Q5T1U7
swissprot - Q8IZC6
swissprot - H0YD40
Ensembl - ENSG00000196739
  
Related genetic diseases (OMIM): 615155 - ?Steel syndrome, 615155
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 col27a1bENSDARG00000099930Danio rerio
 Q5QNQ9ENSMUSG00000045672Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q17RW2 / COL24A1 / collagen type XXIV alpha 1 chainENSG0000017150243
COL5A1 / P20908 / collagen type V alpha 1 chainENSG0000013063535
P12107 / COL11A1 / collagen type XI alpha 1 chainENSG0000006071834
P13942 / COL11A2 / collagen type XI alpha 2 chainENSG0000020424834
COL5A3 / P25940 / collagen type V alpha 3 chainENSG0000008057332
COL2A1 / P02458 / collagen type II alpha 1 chainENSG0000013921931
COL1A1 / P02452 / collagen type I alpha 1 chainENSG0000010882131
COL5A2 / P05997 / collagen type V alpha 2 chainENSG0000020426230
COL3A1 / P02461 / collagen type III alpha 1 chainENSG0000016854230
COL1A2 / P08123 / collagen type I alpha 2 chainENSG0000016469229


Protein motifs (from Interpro)
Interpro ID Name
 IPR000885  Fibrillar collagen, C-terminal
 IPR001791  Laminin G domain
 IPR008160  Collagen triple helix repeat
 IPR013320  Concanavalin A-like lectin/glucanase domain superfamily
 IPR016133  Insect cysteine-rich antifreeze protein


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0003431 growth plate cartilage chondrocyte development IEA
 biological_processGO:0030198 extracellular matrix organization IEA
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005581 collagen trimer IEA
 cellular_componentGO:0005583 fibrillar collagen trimer IEA
 cellular_componentGO:0005788 endoplasmic reticulum lumen TAS
 molecular_functionGO:0005201 extracellular matrix structural constituent IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Collagen biosynthesis and modifying enzymes
Assembly of collagen fibrils and other multimeric structures
MET activates PTK2 signaling
Collagen chain trimerization


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000316 Hypertelorism 
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 HP:0000431 Broad nasal bridge "Increased horizontal dimension of the upper, bony part of the nose." [HPO:curators]
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 HP:0002650 Scoliosis "The presence of an abnormal lateral curvature of the spine." [HPO:curators]
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 HP:0003083 Dislocated radial head "A dislocation of the head of the radius from its socket in the elbow joint." [HPO:curators]
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 HP:0004322 Decreased body height "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators]
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 HP:0011220 Prominent forehead "Forward prominence of the entire forehead, due to protrusion of the frontal bone." [pmid:19125436]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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