ENSG00000173409


Homo sapiens

Features
Gene ID: ENSG00000173409
  
Biological name :ARV1
  
Synonyms : ARV1 / ARV1 homolog, fatty acid homeostasis modulator / Q9H2C2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: 1
Band: q42.2
Gene start: 230978981
Gene end: 231000595
  
Corresponding Affymetrix probe sets: 223223_at (Human Genome U133 Plus 2.0 Array)   238140_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000435420
Ensembl peptide - ENSP00000394547
Ensembl peptide - ENSP00000436763
Ensembl peptide - ENSP00000416039
Ensembl peptide - ENSP00000312458
Ensembl peptide - ENSP00000355618
NCBI entrez gene - 64801     See in Manteia.
OMIM - 611647
RefSeq - NM_022786
RefSeq - XM_017002106
RefSeq Peptide - NP_073623
swissprot - H0YEB4
swissprot - H7C0E7
swissprot - A0A0A0MRI7
swissprot - Q9H2C2
swissprot - H7C484
swissprot - A0A024R3V6
swissprot - F6QB42
Ensembl - ENSG00000173409
  
Related genetic diseases (OMIM): 617020 - Epileptic encephalopathy, early infantile, 38, 617020
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
 arv1ENSDARG00000074757Danio rerio
 ARV1ENSGALG00000011155Gallus gallus
 Arv1ENSMUSG00000031982Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR007290  Arv1 protein


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006629 lipid metabolic process IEA
 biological_processGO:0006665 sphingolipid metabolic process IBA
 biological_processGO:0006695 cholesterol biosynthetic process TAS
 biological_processGO:0006869 lipid transport IEA
 biological_processGO:0008202 steroid metabolic process IEA
 biological_processGO:0008203 cholesterol metabolic process IEA
 biological_processGO:0008206 bile acid metabolic process IEA
 biological_processGO:0030301 cholesterol transport IEA
 biological_processGO:0032383 regulation of intracellular cholesterol transport IMP
 biological_processGO:0090181 regulation of cholesterol metabolic process IMP
 biological_processGO:0097036 regulation of plasma membrane sterol distribution IBA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane TAS
 cellular_componentGO:0005794 Golgi apparatus IBA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0032541 cortical endoplasmic reticulum IBA
 molecular_functionGO:0015248 sterol transporter activity TAS


Pathways (from Reactome)
Pathway description
Cholesterol biosynthesis


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:0000556 Retinal dystrophy 
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 HP:0001251 Ataxia "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators]
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 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
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 HP:0001290 Generalized hypotonia "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators]
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 HP:0001332 Dystonia "An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk." [HPO:curators]
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 HP:0002133 Status epilepticus 
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 HP:0002187 Mental retardation, profound "Severe mental retardation is defined as an intelligence quotient (IQ) below 20." [HPO:curators]
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 HP:0003593 Early onset 
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 HP:0200134 Epileptic encephalopathy 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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