ENSG00000172007


Homo sapiens

Features
Gene ID: ENSG00000172007
  
Biological name :RAB33B
  
Synonyms : Q9H082 / RAB33B / RAB33B, member RAS oncogene family
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 4
Strand: 1
Band: q31.1
Gene start: 139453232
Gene end: 139476609
  
Corresponding Affymetrix probe sets: 221014_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000306496
NCBI entrez gene - 83452     See in Manteia.
OMIM - 605950
RefSeq - NM_031296
RefSeq - XM_011532299
RefSeq Peptide - NP_112586
swissprot - Q9H082
Ensembl - ENSG00000172007
  
Related genetic diseases (OMIM): 615222 - Smith-McCort dysplasia 2, 615222
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
 rab33baENSDARG00000052290Danio rerio
 Q5ZHV1ENSGALG00000009790Gallus gallus
 O35963ENSMUSG00000027739Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q14088 / RAB33A / RAB33A, member RAS oncogene familyENSG0000013459457
RAB35 / Q15286 / RAB35, member RAS oncogene familyENSG0000011173737
RAB30 / Q15771 / RAB30, member RAS oncogene familyENSG0000013750235
RAB19 / A4D1S5 / RAB19, member RAS oncogene familyENSG0000014695535
RAB1A / P62820 / RAB1A, member RAS oncogene familyENSG0000013806934
RAB43 / Q86YS6 / RAB43, member RAS oncogene familyENSG0000017278034
RAB1B / Q9H0U4 / RAB1B, member RAS oncogene familyENSG0000017490334
RAB26 / Q9ULW5 / RAB26, member RAS oncogene familyENSG0000016796432
RAB37 / Q96AX2 / RAB37, member RAS oncogene familyENSG0000017279430
Q96S21 / RAB40C / RAB40C, member RAS oncogene familyENSG0000019756229
Q12829 / RAB40B / RAB40B, member RAS oncogene familyENSG0000014154228
P0C0E4 / RAB40AL / RAB40A likeENSG0000010212826
Q8WXH6 / RAB40A / RAB40A, member RAS oncogene familyENSG0000017247626


Protein motifs (from Interpro)
Interpro ID Name
 IPR001806  Small GTPase superfamily
 IPR005225  Small GTP-binding protein domain
 IPR027417  P-loop containing nucleoside triphosphate hydrolase


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000045 autophagosome assembly IEA
 biological_processGO:0006891 intra-Golgi vesicle-mediated transport IMP
 biological_processGO:0006914 autophagy IEA
 biological_processGO:0015031 protein transport IEA
 biological_processGO:0034067 protein localization to Golgi apparatus IMP
 biological_processGO:0048705 skeletal system morphogenesis IMP
 biological_processGO:1903358 regulation of Golgi organization IMP
 biological_processGO:1903434 negative regulation of constitutive secretory pathway IMP
 biological_processGO:2000156 regulation of retrograde vesicle-mediated transport, Golgi to ER IMP
 biological_processGO:2000785 regulation of autophagosome assembly IBA
 cellular_componentGO:0000139 Golgi membrane TAS
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0005796 Golgi lumen IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003924 GTPase activity IMP
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005525 GTP binding IEA


Pathways (from Reactome)
Pathway description
Intra-Golgi traffic
TBC/RABGAPs
RAB geranylgeranylation


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:0000470 Short neck 
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 HP:0000768 Pectus carinatum "A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum." [HPO:curators]
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 HP:0000926 Platyspondyly 
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 HP:0001552 Barrel-shaped chest 
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 HP:0001763 Pes planus "A condition in which the arch of the foot is flat, with the entire sole of the foot being in near-complete contact with the ground." [HPO:curators]
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 HP:0002857 Genu valgum 
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 HP:0003311 Hypoplastic odontoid process 
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 HP:0003521 Short stature, disproportionate (short trunk) 
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 HP:0004325 Decreased body weight 
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 HP:0006009 Widened phalanges 
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 HP:0006429 Broad femoral neck "An abnormally wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft)." [HPO:Curators]
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 HP:0008812 Flattened femoral heads 
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 HP:0009803 Hypoplastic/small phalanges of the hand 
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 HP:0010049 Hypoplastic/short metacarpal bones 
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 HP:0010743 Hypoplasia of the metatarsal bones 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000107036 RIC1 / Q4ADV7 / RIC1 homolog, RAB6A GEF complex partner 1  / complex / reaction
 ENSG00000107185 RGP1 / Q92546 / RGP1 homolog, RAB6A GEF complex partner 1  / complex / reaction






 

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