ENSG00000184154


Homo sapiens

Features
Gene ID: ENSG00000184154
  
Biological name :LRTOMT
  
Synonyms : leucine rich transmembrane and O-methyltransferase domain containing / LRTOMT / Q8WZ04 / Q96E66
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: 1
Band: q13.4
Gene start: 72080331
Gene end: 72110782
  
Corresponding Affymetrix probe sets: 1568882_at (Human Genome U133 Plus 2.0 Array)   226717_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000495121
Ensembl peptide - ENSP00000494362
Ensembl peptide - ENSP00000495182
Ensembl peptide - ENSP00000496544
Ensembl peptide - ENSP00000289488
Ensembl peptide - ENSP00000305742
Ensembl peptide - ENSP00000409789
Ensembl peptide - ENSP00000414271
Ensembl peptide - ENSP00000437561
Ensembl peptide - ENSP00000437649
Ensembl peptide - ENSP00000437985
Ensembl peptide - ENSP00000438522
Ensembl peptide - ENSP00000438762
Ensembl peptide - ENSP00000440248
Ensembl peptide - ENSP00000440693
Ensembl peptide - ENSP00000441249
Ensembl peptide - ENSP00000442267
Ensembl peptide - ENSP00000443421
Ensembl peptide - ENSP00000444583
Ensembl peptide - ENSP00000482923
Ensembl peptide - ENSP00000494072
NCBI entrez gene - 220074     See in Manteia.
OMIM - 612414
RefSeq - NM_001145310
RefSeq - NM_001145307
RefSeq - NM_001145308
RefSeq - NM_001145309
RefSeq - NM_001205138
RefSeq - NM_001271471
RefSeq - NM_001318803
RefSeq - NM_145309
RefSeq - XM_006718473
RefSeq - XM_006718474
RefSeq - XM_011544847
RefSeq - XM_011544848
RefSeq - XM_017017359
RefSeq - XM_017017360
RefSeq Peptide - NP_001138781
RefSeq Peptide - NP_001138782
RefSeq Peptide - NP_001192067
RefSeq Peptide - NP_001258400
RefSeq Peptide - NP_001138779
RefSeq Peptide - NP_001305732
RefSeq Peptide - NP_660352
RefSeq Peptide - NP_001138780
swissprot - Q96E66
swissprot - Q8WZ04
swissprot - B0AZV1
swissprot - F5GYI0
swissprot - F5H0M6
swissprot - F5H614
swissprot - F5H6F7
swissprot - F5H6K5
swissprot - A0A024R5L6
Ensembl - ENSG00000184154
  
Related genetic diseases (OMIM): 611451 - Deafness, autosomal recessive 63, 611451
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
 tomtENSDARG00000115463Danio rerio
 ENSGALG00000035375Gallus gallus
 TomtENSMUSG00000078630Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
AP000812.4ENSG0000028484489
COMT / P21964 / catechol-O-methyltransferaseENSG0000009301031


Protein motifs (from Interpro)
Interpro ID Name
 IPR001611  Leucine-rich repeat
 IPR002935  O-methyltransferase, family 3
 IPR029063  S-adenosyl-L-methionine-dependent methyltransferase
 IPR032675  Leucine-rich repeat domain superfamily
 IPR033025  Transmembrane O-methyltransferase


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006584 catecholamine metabolic process IEA
 biological_processGO:0007605 sensory perception of sound ISS
 biological_processGO:0032259 methylation IEA
 biological_processGO:0042135 neurotransmitter catabolic process IEA
 biological_processGO:0042424 catecholamine catabolic process ISS
 biological_processGO:0060117 auditory receptor cell development ISS
 cellular_componentGO:0005575 cellular_component ND
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0008168 methyltransferase activity IEA
 molecular_functionGO:0008171 O-methyltransferase activity IEA
 molecular_functionGO:0016206 catechol O-methyltransferase activity TAS
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0102084 L-dopa O-methyltransferase activity IEA
 molecular_functionGO:0102938 orcinol O-methyltransferase activity IEA


Pathways (from Reactome)
Pathway description
Enzymatic degradation of dopamine by COMT


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:0003577 Onset at birth 
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 HP:0008527 Congenital sensorineural hearing loss 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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