ENSG00000188419


Homo sapiens

Features
Gene ID: ENSG00000188419
  
Biological name :CHM
  
Synonyms : CHM / CHM, Rab escort protein 1 / P24386
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: X
Strand: -1
Band: q21.2
Gene start: 85861180
Gene end: 86047562
  
Corresponding Affymetrix probe sets: 1569183_a_at (Human Genome U133 Plus 2.0 Array)   207099_s_at (Human Genome U133 Plus 2.0 Array)   227871_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000350386
Ensembl peptide - ENSP00000484306
NCBI entrez gene - 1121     See in Manteia.
OMIM - 300390
RefSeq - XM_017029246
RefSeq - NM_000390
RefSeq - NM_001145414
RefSeq - NM_001320959
RefSeq - XM_017029242
RefSeq - XM_017029243
RefSeq - XM_017029244
RefSeq - XM_017029245
RefSeq Peptide - NP_001138886
RefSeq Peptide - NP_001307888
RefSeq Peptide - NP_000381
swissprot - P24386
Ensembl - ENSG00000188419
  
Related genetic diseases (OMIM): 303100 - Choroideremia, 303100
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
 chmENSDARG00000003845Danio rerio
 CHMENSGALG00000006906Gallus gallus
 ChmENSMUSG00000025531Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CHML / P26374 / CHM like, Rab escort protein 2ENSG0000020366870
GDI2 / P50395 / GDP dissociation inhibitor 2ENSG0000005760817
GDI1 / P31150 / GDP dissociation inhibitor 1ENSG0000020387916


Protein motifs (from Interpro)
Interpro ID Name
 IPR001738  Rab protein geranylgeranyltransferase component A
 IPR018203  GDP dissociation inhibitor
 IPR036188  FAD/NAD(P)-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006612 protein targeting to membrane IMP
 biological_processGO:0006886 intracellular protein transport IEA
 biological_processGO:0007264 small GTPase mediated signal transduction IEA
 biological_processGO:0007601 visual perception TAS
 biological_processGO:0018344 protein geranylgeranylation TAS
 biological_processGO:0042981 regulation of apoptotic process TAS
 biological_processGO:0043547 positive regulation of GTPase activity IEA
 biological_processGO:0043687 post-translational protein modification TAS
 biological_processGO:0050790 regulation of catalytic activity IEA
 biological_processGO:0050896 response to stimulus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005968 Rab-protein geranylgeranyltransferase complex TAS
 molecular_functionGO:0004663 Rab geranylgeranyltransferase activity TAS
 molecular_functionGO:0005092 GDP-dissociation inhibitor activity IEA
 molecular_functionGO:0005096 GTPase activator activity IEA
 molecular_functionGO:0017137 Rab GTPase binding IPI


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
 HP:0000505 Impaired vision 
Show

 HP:0000512 Abnormal electroretinogram "Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography." [HPO:curators]
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 HP:0000529 Progressive visual loss 
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 HP:0000533 Chorioretinal atrophy 
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 HP:0000545 Myopia 
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 HP:0000662 Night blindness 
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 HP:0001133 Constricted visual fields 
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 HP:0001139 Choroideremia 
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 HP:0001417 X-linked inheritance "A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome." [HPO:curators]
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 HP:0001423 X-linked dominant inheritance "A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation." [HPO:curators]
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 HP:0007703 Abnormal retinal pigmentation 
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 HP:0200065 Choroidoretinal degeneration 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000111737 RAB35 / Q15286 / RAB35, member RAS oncogene family  / complex
 ENSG00000100949 Q92696 / RABGGTA / Rab geranylgeranyltransferase alpha subunit  / complex / reaction
 ENSG00000105649 RAB3A / P20336 / RAB3A, member RAS oncogene family  / complex
 ENSG00000100599 RIN3 / Q8TB24 / Ras and Rab interactor 3  / reaction
 ENSG00000107036 RIC1 / Q4ADV7 / RIC1 homolog, RAB6A GEF complex partner 1  / reaction
 ENSG00000127328 Q96QF0 / RAB3IP / RAB3A interacting protein  / reaction
 ENSG00000118873 Q9H2M9 / RAB3GAP2 / RAB3 GTPase activating non-catalytic protein subunit 2  / reaction
 ENSG00000213047 Q6P3S1 / DENND1B / DENN domain containing 1B  / reaction
 ENSG00000115839 Q15042 / RAB3GAP1 / RAB3 GTPase activating protein catalytic subunit 1  / reaction
 ENSG00000165219 GAPVD1 / Q14C86 / GTPase activating protein and VPS9 domains 1  / reaction
 ENSG00000080371 RAB21 / Q9UL25 / RAB21, member RAS oncogene family  / complex
 ENSG00000075785 RAB7A / P51149 / RAB7A, member RAS oncogene family  / complex
 ENSG00000105339 A2RUS2 / DENND3 / DENN domain containing 3  / reaction
 ENSG00000108953 YWHAE / P62258 / tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon  / reaction
 ENSG00000133812 SBF2 / Q86WG5 / SET binding factor 2  / reaction
 ENSG00000084733 RAB10 / P61026 / RAB10, member RAS oncogene family  / complex
 ENSG00000174839 Q8IWF6 / DENND6A / DENN domain containing 6A  / reaction
 ENSG00000110514 MADD / Q8WXG6 / MAP kinase activating death domain  / reaction
 ENSG00000164077 MON1A / Q86VX9 / MON1 homolog A, secretory trafficking associated  / reaction
 ENSG00000146966 Q9ULE3 / DENND2A / DENN domain containing 2A  / reaction
 ENSG00000167461 RAB8A / P61006 / RAB8A, member RAS oncogene family  / complex
 ENSG00000105186 Q96NW4 / ANKRD27 / ankyrin repeat domain 27  / reaction
 ENSG00000175582 RAB6A / P20340 / RAB6A, member RAS oncogene family  / complex
 ENSG00000144566 RAB5A / P20339 / RAB5A, member RAS oncogene family  / complex
 ENSG00000167994 Q8TBN0 / RAB3IL1 / RAB3A interacting protein like 1  / reaction
 ENSG00000069974 P51159 / RAB27A / RAB27A, member RAS oncogene family  / complex
 ENSG00000100099 HPS4 / Q9NQG7 / HPS4, biogenesis of lysosomal organelles complex 3 subunit 2  / reaction
 ENSG00000137955 P53611 / RABGGTB / Rab geranylgeranyltransferase beta subunit  / reaction / complex
 ENSG00000184014 Q6IQ26 / DENND5A / DENN domain containing 5A  / reaction
 ENSG00000107521 HPS1 / Q92902 / HPS1, biogenesis of lysosomal organelles complex 3 subunit 1  / reaction
 ENSG00000122674 CCZ1 / P86791 / CCZ1 homolog, vacuolar protein trafficking and biogenesis associated  / reaction
 ENSG00000206418 RAB12 / Q6IQ22 / RAB12, member RAS oncogene family  / complex
 ENSG00000170456 Q6ZUT9 / DENND5B / DENN domain containing 5B  / reaction
 ENSG00000100241 SBF1 / O95248 / SET binding factor 1  / reaction
 ENSG00000137145 Q5VZ89 / DENND4C / DENN domain containing 4C  / reaction
 ENSG00000123892 RAB38 / P57729 / RAB38, member RAS oncogene family  / complex
 ENSG00000123595 RAB9A / P51151 / RAB9A, member RAS oncogene family  / complex
 ENSG00000118508 RAB32 / Q13637 / RAB32, member RAS oncogene family  / complex
 ENSG00000179331 Q14964 / RAB39A / RAB39A, member RAS oncogene family  / complex
 ENSG00000198837 O75064 / DENND4B / DENN domain containing 4B  / reaction
 ENSG00000099246 RAB18 / Q9NP72 / RAB18, member RAS oncogene family  / complex
 ENSG00000119522 Q8TEH3 / DENND1A / DENN domain containing 1A  / reaction
 ENSG00000143545 RAB13 / P51153 / RAB13, member RAS oncogene family  / complex
 ENSG00000119396 RAB14 / P61106 / RAB14, member RAS oncogene family  / complex
 ENSG00000205744 Q8IV53 / DENND1C / DENN domain containing 1C  / reaction
 ENSG00000107185 RGP1 / Q92546 / RGP1 homolog, RAB6A GEF complex partner 1  / reaction
 ENSG00000138069 RAB1A / P62820 / RAB1A, member RAS oncogene family  / complex
 ENSG00000205593 Q8NEG7 / DENND6B / DENN domain containing 6B  / reaction
 ENSG00000174485 Q7Z401 / DENND4A / DENN domain containing 4A  / reaction
 ENSG00000168461 RAB31 / Q13636 / RAB31, member RAS oncogene family  / complex






 

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