ENSG00000167210


Homo sapiens

Features
Gene ID: ENSG00000167210
  
Biological name :LOXHD1
  
Synonyms : lipoxygenase homology domains 1 / LOXHD1 / Q8IVV2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 18
Strand: -1
Band: q21.1
Gene start: 46476972
Gene end: 46657220
  
Corresponding Affymetrix probe sets: 241117_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000444586
Ensembl peptide - ENSP00000440060
Ensembl peptide - ENSP00000461964
Ensembl peptide - ENSP00000496347
Ensembl peptide - ENSP00000463285
Ensembl peptide - ENSP00000300591
Ensembl peptide - ENSP00000381676
Ensembl peptide - ENSP00000381692
Ensembl peptide - ENSP00000387621
Ensembl peptide - ENSP00000392440
Ensembl peptide - ENSP00000412568
Ensembl peptide - ENSP00000414278
NCBI entrez gene - 125336     See in Manteia.
OMIM - 613072
RefSeq - XM_017025548
RefSeq - XM_006722388
RefSeq - XM_006722389
RefSeq - XM_006722390
RefSeq - XM_006722391
RefSeq - XM_011525804
RefSeq - XM_011525807
RefSeq - XM_011525810
RefSeq - XM_011525811
RefSeq - XM_017025540
RefSeq - XM_017025541
RefSeq - XM_017025542
RefSeq - XM_017025543
RefSeq - XM_017025544
RefSeq - XM_017025545
RefSeq - NM_001145472
RefSeq - NM_001145473
RefSeq - NM_001173129
RefSeq - NM_001308013
RefSeq - NM_144612
RefSeq Peptide - NP_001138945
RefSeq Peptide - NP_001166600
RefSeq Peptide - NP_001294942
RefSeq Peptide - NP_653213
RefSeq Peptide - NP_001138944
swissprot - J3KRE7
swissprot - J3QKX9
swissprot - Q8IVV2
swissprot - C9IYQ1
swissprot - C9JMG7
swissprot - C9J269
swissprot - F5GXP0
swissprot - F5GZB4
swissprot - H7BZ41
Ensembl - ENSG00000167210
  
Related genetic diseases (OMIM): 613079 - Deafness, autosomal recessive 77, 613079
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
 loxhd1aENSDARG00000094738Danio rerio
 loxhd1bENSDARG00000074638Danio rerio
 LOXHD1ENSGALG00000037829Gallus gallus
 C8YR32ENSMUSG00000032818Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR001024  PLAT/LH2 domain
 IPR036392  PLAT/LH2 domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007605 sensory perception of sound IMP
 biological_processGO:0050982 detection of mechanical stimulus IBA
 biological_processGO:0055114 oxidation-reduction process IEA
 biological_processGO:0070588 calcium ion transmembrane transport IEA
 biological_processGO:0098869 cellular oxidant detoxification IEA
 cellular_componentGO:0016020 membrane IBA
 cellular_componentGO:0032420 stereocilium ISS
 cellular_componentGO:0042995 cell projection IEA
 molecular_functionGO:0004096 catalase activity IEA
 molecular_functionGO:0005262 calcium channel activity IBA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0020037 heme binding IEA


Pathways (from Reactome)
Pathway description
No match


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]
Show

 HP:0008619 Hearing loss, sensorineural, bilateral 
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

1 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr