ENSG00000099797


Homo sapiens

Features
Gene ID: ENSG00000099797
  
Biological name :TECR
  
Synonyms : Q9NZ01 / TECR / trans-2,3-enoyl-CoA reductase
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: 1
Band: p13.12
Gene start: 14517085
Gene end: 14565980
  
Corresponding Affymetrix probe sets: 1569392_at (Human Genome U133 Plus 2.0 Array)   208336_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000215567
Ensembl peptide - ENSP00000472697
Ensembl peptide - ENSP00000472957
Ensembl peptide - ENSP00000473129
Ensembl peptide - ENSP00000472504
NCBI entrez gene - 9524     See in Manteia.
OMIM - 610057
RefSeq - XM_011528442
RefSeq - NM_001321170
RefSeq - NM_138501
RefSeq - XM_006722945
RefSeq Peptide - NP_612510
RefSeq Peptide - NP_001308099
swissprot - M0R3C3
swissprot - Q9NZ01
swissprot - M0R2E5
swissprot - M0R329
swissprot - B4DR74
Ensembl - ENSG00000099797
  
Related genetic diseases (OMIM): 614020 - Mental retardation, autosomal recessive 14, 614020
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
 tecraENSDARG00000101585Danio rerio
 tecrbENSDARG00000025904Danio rerio
 ENSGALG00000005776Gallus gallus
 TecrENSMUSG00000031708Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
TECRL / Q5HYJ1 / trans-2,3-enoyl-CoA reductase likeENSG0000020567849


Protein motifs (from Interpro)
Interpro ID Name
 IPR001104  3-oxo-5-alpha-steroid 4-dehydrogenase, C-terminal
 IPR029071  Ubiquitin-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006629 lipid metabolic process IEA
 biological_processGO:0006631 fatty acid metabolic process IEA
 biological_processGO:0006633 fatty acid biosynthetic process IEA
 biological_processGO:0030497 fatty acid elongation IDA
 biological_processGO:0035338 long-chain fatty-acyl-CoA biosynthetic process TAS
 biological_processGO:0042761 very long-chain fatty acid biosynthetic process IDA
 biological_processGO:0055114 oxidation-reduction process IEA
 cellular_componentGO:0005634 nucleus HDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030176 integral component of endoplasmic reticulum membrane IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0016491 oxidoreductase activity IBA
 molecular_functionGO:0016627 oxidoreductase activity, acting on the CH-CH group of donors IEA
 molecular_functionGO:0017099 very-long-chain-acyl-CoA dehydrogenase activity TAS
 molecular_functionGO:0102758 very-long-chain enoyl-CoA reductase activity IEA


Pathways (from Reactome)
Pathway description
Synthesis of very long-chain fatty acyl-CoAs


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:0000189 Narrow palate "Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective)." [pmid:19125428]
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 HP:0000750 Impaired language development 
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 HP:0001249 Mental retardation 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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