ENSDARG00000003845


Danio rerio

Features
Gene ID: ENSDARG00000003845
  
Biological name :chm
  
Synonyms : chm / choroideremia (Rab escort protein 1)
  
Possible biological names infered from orthology : CHML / CHM like, Rab escort protein 2 / CHM, Rab escort protein 1 / choroideremia-like / choroidermia (RAB escort protein 1) / P24386 / P26374
  
Species: Danio rerio
  
Chr. number: 21
Strand: 1
Band:
Gene start: 34686764
Gene end: 34793909
  
Corresponding Affymetrix probe sets: Dr.17040.1.A1_at (Zebrafish Array)   
  
Cross references: Ensembl peptide - ENSDARP00000019118
NCBI entrez gene - 402935     See in Manteia.
RefSeq - NM_203461
RefSeq Peptide - NP_982286
swissprot - F1Q9R8
ZFIN ID - ZDB-GENE-030318-2
Ensembl - ENSDARG00000003845
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 CHMENSGALG00000006906Gallus gallus
 CHMENSG00000188419Homo sapiens
 CHMLENSG00000203668Homo sapiens
 ChmENSMUSG00000025531Mus musculus
 ChmlENSMUSG00000078185Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
gdi1 / GDP dissociation inhibitor 1 / P31150* / P50396* / Rab GDP dissociation inhibitor alpha *ENSDARG0000005612216
gdi2 / GDP dissociation inhibitor 2 / P50395* / Q61598* / Rab GDP dissociation inhibitor beta *ENSDARG0000000545116
zgc:112334ENSDARG0000010292415


Protein motifs (from Interpro)
Interpro ID Name
 IPR001738  Rab protein geranylgeranyltransferase component A
 IPR018203  GDP dissociation inhibitor
 IPR023753  FAD/NAD(P)-binding domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001895 retina homeostasis IMP
 biological_processGO:0006886 intracellular protein transport IEA
 biological_processGO:0007264 small GTPase mediated signal transduction IEA
 biological_processGO:0010842 retina layer formation IMP
 biological_processGO:0018344 protein geranylgeranylation IEA
 biological_processGO:0042491 inner ear auditory receptor cell differentiation IMP
 biological_processGO:0043066 negative regulation of apoptotic process IMP
 biological_processGO:0048798 swim bladder inflation IMP
 biological_processGO:0050790 regulation of catalytic activity IEA
 biological_processGO:0050910 detection of mechanical stimulus involved in sensory perception of sound IMP
 biological_processGO:0050935 iridophore differentiation IMP
 biological_processGO:0060042 retina morphogenesis in camera-type eye IMP
 biological_processGO:0098727 maintenance of cell number IMP
 cellular_componentGO:0005968 Rab-protein geranylgeranyltransferase complex IEA
 molecular_functionGO:0004663 Rab geranylgeranyltransferase activity IMP
 molecular_functionGO:0005092 GDP-dissociation inhibitor activity IEA


Pathways (from Reactome)
Pathway description
TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain
RAB geranylgeranylation
RAB GEFs exchange GTP for GDP on RABs


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 ZFA:0000035 lens lens posterior surface degenerate , abnormal
lens decreased size , abnormal
lens opaque , abnormal
lens morphology , abnormal
lens morphology , ameliorated
Show

 ZFA:0000046 retinal neural layer retinal neural layer lacks parts or has fewer parts of type retinal outer plexiform layer , abnormal
Show

 ZFA:0000054 pericardium pericardium edematous , abnormal
pericardium morphology , ameliorated
Show

 ZFA:0000075 spinal cord spinal cord increased curvature , abnormal
Show

 ZFA:0000076 swim bladder swim bladder uninflated , abnormal
swim bladder morphology , abnormal
Show

 ZFA:0000084 yolk yolk increased size , abnormal
Show

 ZFA:0000100 cerebellum cerebellum granule cell decreased amount , abnormal
cerebellum Purkinje cell decreased amount , abnormal
cerebellum apoptotic , abnormal
Show

 ZFA:0000107 eye eye degenerate , abnormal
eye decreased size , abnormal
eye iridophore irregular spatial pattern , abnormal
eye iridophore decreased amount , abnormal
eye size , ameliorated
eye increased pigmentation , abnormal
eye decreased pigmentation , abnormal
eye morphology , abnormal
eye apoptotic , abnormal
Show

 ZFA:0000112 gut gut morphology , ameliorated
gut edematous , abnormal
Show

 ZFA:0000143 retinal photoreceptor layer retinal photoreceptor layer disorganized , abnormal
Show

 ZFA:0000144 retinal pigmented epithelium retinal pigmented epithelium hypertrophic , abnormal
retinal pigmented epithelium disorganized , abnormal
retinal pigmented epithelium pigmented epithelial cell displaced to retinal outer nuclear layer , abnormal
retinal pigmented epithelium irregular thickness , abnormal
retinal pigmented epithelium melanosome decreased amount , abnormal
retinal pigmented epithelium irregular spatial pattern , abnormal
retinal pigmented epithelium mislocalised , abnormal
retinal pigmented epithelium atrophied , abnormal
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 ZFA:0000152 retina retina decreased functionality , abnormal
retina apoptotic , abnormal
retina degenerate , abnormal
retina nucleus morphology , ameliorated
retina nucleus condensed , abnormal
retina cytoplasm decreased amount , abnormal
retina morphology , ameliorated
Show

 ZFA:0000217 inner ear inner ear quality , abnormal
inner ear hair cell decreased amount , abnormal
inner ear hair cell non-functional , abnormal
Show

 ZFA:0000243 neuromast neuromast decreased amount , abnormal
Show

 ZFA:0000281 hair cell posterior macula hair cell posterior macula decreased amount , abnormal
Show

 ZFA:0000445 optic tectum optic tectum apoptotic , abnormal
Show

 ZFA:0001094 whole organism whole organism viability , abnormal
whole organism decreased length , abnormal
whole organism apoptotic , abnormal
whole organism dead , abnormal
whole organism decreased life span , abnormal
whole organism amount , ameliorated
whole organism decreased amount , abnormal
whole organism life span , ameliorated
Show

 ZFA:0001114 head head morphology , abnormal
Show

 ZFA:0001115 trunk trunk edematous , abnormal
Show

 ZFA:0001306 pharyngeal arch pharyngeal arch morphology , abnormal
pharyngeal arch decreased amount , abnormal
Show

 ZFA:0001338 intestine intestine decreased length , abnormal
intestine malformed , abnormal
intestine cell apoptotic , abnormal
Show

 ZFA:0001464 retinal outer nuclear layer retinal outer nuclear layer apoptotic , abnormal
retinal outer nuclear layer has fewer parts of type photoreceptor cell , abnormal
Show

 ZFA:0001466 photoreceptor outer segment layer photoreceptor outer segment layer disheveled , abnormal
photoreceptor outer segment layer disorganized , abnormal
Show

 ZFA:0001499 esophageal epithelium esophageal epithelium decreased amount , abnormal
Show

 ZFA:0009127 photoreceptor cell photoreceptor cell morphology , abnormal
photoreceptor cell disorganized , abnormal
Show

 ZFA:0009199 iridophore iridophore irregular spatial pattern , abnormal
Show

 ZFA:0009241 pigmented epithelial cell pigmented epithelial cell inclusion body increased amount , abnormal
pigmented epithelial cell vacuolated , abnormal
Show

 ZFA:0009310 retinal ganglion cell retinal ganglion cell apoptotic , abnormal
Show

 ZFA:0009367 neuromast hair cell neuromast hair cell lacks parts or has fewer parts of type neuromast hair cell stereocilium bundle, abnormal
neuromast hair cell stereocilium decreased amount , abnormal
neuromast hair cell kinocilium decreased length , abnormal
neuromast hair cell kinocilium decreased amount , abnormal
neuromast hair cell decreased amount , abnormal
Show

  


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






 

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