ENSG00000203879


Homo sapiens

Features
Gene ID: ENSG00000203879
  
Biological name :GDI1
  
Synonyms : GDI1 / GDP dissociation inhibitor 1 / P31150
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: X
Strand: 1
Band: q28
Gene start: 154436913
Gene end: 154443467
  
Corresponding Affymetrix probe sets: 201864_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000396215
Ensembl peptide - ENSP00000486715
Ensembl peptide - ENSP00000416195
Ensembl peptide - ENSP00000394071
Ensembl peptide - ENSP00000394752
NCBI entrez gene - 2664     See in Manteia.
OMIM - 300104
RefSeq - NM_001493
RefSeq Peptide - NP_001484
swissprot - G5E9U5
swissprot - A0A0S2Z3X8
swissprot - P31150
swissprot - F8WCU0
swissprot - F8WE59
Ensembl - ENSG00000203879
  
Related genetic diseases (OMIM): 300849 - Mental retardation, X-linked 41, 300849
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
 gdi1ENSDARG00000056122Danio rerio
 Gdi1ENSMUSG00000015291Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
GDI2 / P50395 / GDP dissociation inhibitor 2ENSG0000005760885
CHML / P26374 / CHM like, Rab escort protein 2ENSG0000020366825
CHM / P24386 / CHM, Rab escort protein 1ENSG0000018841924


Protein motifs (from Interpro)
Interpro ID Name
 IPR000806  Rab GDI protein
 IPR018203  GDP dissociation inhibitor
 IPR036188  FAD/NAD(P)-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007165 signal transduction TAS
 biological_processGO:0007264 small GTPase mediated signal transduction IEA
 biological_processGO:0015031 protein transport IEA
 biological_processGO:0032482 Rab protein signal transduction ISS
 biological_processGO:0043547 positive regulation of GTPase activity IEA
 biological_processGO:0045773 positive regulation of axon extension IEA
 biological_processGO:0050771 negative regulation of axonogenesis ISS
 biological_processGO:0050790 regulation of catalytic activity IEA
 biological_processGO:0051056 regulation of small GTPase mediated signal transduction TAS
 biological_processGO:0051592 response to calcium ion IEA
 biological_processGO:0090315 negative regulation of protein targeting to membrane IMP
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0030424 axon IEA
 cellular_componentGO:0030496 midbody IDA
 cellular_componentGO:0043005 neuron projection IEA
 cellular_componentGO:0043025 neuronal cell body IEA
 cellular_componentGO:0043209 myelin sheath IEA
 molecular_functionGO:0005092 GDP-dissociation inhibitor activity IEA
 molecular_functionGO:0005093 Rab GDP-dissociation inhibitor activity IEA
 molecular_functionGO:0005096 GTPase activator activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0017137 Rab GTPase binding IEA


Pathways (from Reactome)
Pathway description
Rho GTPase cycle
RAB GEFs exchange GTP for GDP on RABs


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0001249 Mental retardation 
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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: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:0002121 Absence seizures "Recurrent absence seizures are `generalized seizures` (HP:0002197) that are characterized by a sudden cessation of motor activity and by a blank facial expression with flickering of the eyelids. There is no convulsive muscular activity or loss of postural control." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000111737 RAB35 / Q15286 / RAB35, member RAS oncogene family  / complex
 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
 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
 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
 ENSG00000123892 RAB38 / P57729 / RAB38, member RAS oncogene family  / complex
 ENSG00000123595 RAB9A / P51151 / RAB9A, member RAS oncogene family  / complex
 ENSG00000179331 Q14964 / RAB39A / RAB39A, member RAS oncogene family  / complex
 ENSG00000118508 RAB32 / Q13637 / RAB32, member RAS oncogene family  / complex
 ENSG00000174485 Q7Z401 / DENND4A / DENN domain containing 4A  / reaction
 ENSG00000168461 RAB31 / Q13636 / RAB31, member RAS oncogene family  / complex






 

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