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
RAB19 / A4D1S5 / RAB19, member RAS oncogene familyENSG0000014695535
RAB30 / Q15771 / RAB30, member RAS oncogene familyENSG0000013750235
RAB43 / Q86YS6 / RAB43, member RAS oncogene familyENSG0000017278034
RAB1B / Q9H0U4 / RAB1B, member RAS oncogene familyENSG0000017490334
RAB1A / P62820 / RAB1A, member RAS oncogene familyENSG0000013806934
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
Q8WXH6 / RAB40A / RAB40A, member RAS oncogene familyENSG0000017247626
P0C0E4 / RAB40AL / RAB40A likeENSG0000010212826


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]
Show

 HP:0000470 Short neck 
Show

 HP:0000768 Pectus carinatum "A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum." [HPO:curators]
Show

 HP:0000926 Platyspondyly 
Show

 HP:0001552 Barrel-shaped chest 
Show

 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]
Show

 HP:0002857 Genu valgum 
Show

 HP:0003311 Hypoplastic odontoid process 
Show

 HP:0003521 Short stature, disproportionate (short trunk) 
Show

 HP:0004325 Decreased body weight 
Show

 HP:0006009 Widened phalanges 
Show

 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]
Show

 HP:0008812 Flattened femoral heads 
Show

 HP:0009803 Hypoplastic/small phalanges of the hand 
Show

 HP:0010049 Hypoplastic/short metacarpal bones 
Show

 HP:0010743 Hypoplasia of the metatarsal bones 
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000107185 RGP1 / Q92546 / RGP1 homolog, RAB6A GEF complex partner 1  / complex / reaction
 ENSG00000107036 RIC1 / Q4ADV7 / RIC1 homolog, RAB6A GEF complex partner 1  / complex / reaction






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr