ENSMUSG00000073639


Mus musculus

Features
Gene ID: ENSMUSG00000073639
  
Biological name :Rab18
  
Synonyms : P35293 / Rab18 / RAB18, member RAS oncogene family
  
Possible biological names infered from orthology : Q9NP72
  
Species: Mus musculus
  
Chr. number: 18
Strand: 1
Band: A1
Gene start: 6765205
Gene end: 6790231
  
Corresponding Affymetrix probe sets: 10453705 (MoGene1.0st)   1420899_at (Mouse Genome 430 2.0 Array)   1420900_a_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000095285
NCBI entrez gene - 19330     See in Manteia.
MGI - MGI:102790
RefSeq - NM_181070
RefSeq - NM_001278447
RefSeq Peptide - NP_001265376
RefSeq Peptide - NP_851415
swissprot - P35293
swissprot - Q0PD38
Ensembl - ENSMUSG00000073639
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 Q6DHC1ENSDARG00000098344Danio rerio
 rab18aENSDARG00000055291Danio rerio
 RAB18ENSGALG00000007435Gallus gallus
 RAB18ENSG00000099246Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Rab2a / P53994 / Ras-related protein Rab-2A / P61019* / RAB2A, member RAS oncogene family*ENSMUSG0000004718744
Rab2b / P59279 / RAB2B, member RAS oncogene family / Q8WUD1*ENSMUSG0000002215942
Rab14 / Q91V41 / RAB14, member RAS oncogene family / P61106*ENSMUSG0000002687840
P62492 / Rab11a / RAB11A, member RAS oncogene family / P62491*ENSMUSG0000000477140
P46638 / Rab11b / RAB11B, member RAS oncogene family / Q15907*ENSMUSG0000007745040
Rab4a / P56371 / Ras-related protein Rab-4A / P20338* / RAB4A, member RAS oncogene family*ENSMUSG0000001947839
Rab4b / Q91ZR1 / RAB4B, member RAS oncogene family / P61018* / RAB4B-EGLN2* / RAB4B-EGLN2 readthrough (NMD candidate)*ENSMUSG0000005329138
Rab25 / Q9WTL2 / RAB25, member RAS oncogene family / P57735*ENSMUSG0000000860138
Rab39 / Q8BHD0 / RAB39, member RAS oncogene family / Q14964* / RAB39A* / RAB39A, member RAS oncogene family*ENSMUSG0000005506936
Q8BHC1 / Rab39b / RAB39B, member RAS oncogene family / Q96DA2*ENSMUSG0000003120235
Rab42 / Q0PD08 / Ras-related protein Rab-42 / Q8N4Z0* / RAB42, member RAS oncogene family*ENSMUSG0000008968732


Protein motifs (from Interpro)
Interpro ID Name
 IPR001806  Small GTPase superfamily
 IPR005225  Small GTP-binding protein domain
 IPR025662  Sigma-54 interaction domain, ATP-binding site 1
 IPR027417  P-loop containing nucleoside triphosphate hydrolase


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001654 eye development ISS
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007420 brain development ISS
 biological_processGO:0015031 protein transport IEA
 biological_processGO:0034389 lipid particle organization IEA
 biological_processGO:0051170 import into nucleus IMP
 biological_processGO:0071786 endoplasmic reticulum tubular network organization IEA
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005794 Golgi apparatus IBA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0009925 basal plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016324 apical plasma membrane IEA
 cellular_componentGO:0071782 endoplasmic reticulum tubular network IEA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003924 GTPase activity IEA
 molecular_functionGO:0005525 GTP binding IEA
 molecular_functionGO:0019003 GDP binding IEA


Pathways (from Reactome)
Pathway description
Neutrophil degranulation
COPI-independent Golgi-to-ER retrograde traffic
RAB geranylgeranylation
RAB GEFs exchange GTP for GDP on RABs


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000746 weakness "state of being infirm or less strong than littermates" [J:45400]
Show

Allelic Composition: Slurp1tm1.1Sgy/Slurp1tm1.1Sgy
Genetic Background: involves: 129 * C57BL/6

 MP:0000780 abnormal corpus callosum morphology "malformation or absence of a thick bundle of nerve fibers comprising a commissural plate connecting the two cerebral hemispheres; it consists of contralateral axon projections that provides communications between the right and left cerebral hemispheres" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Rab18m1Hongc/Rab18m1Hongc
Genetic Background: C57BL/6J-Rab18m1Hongc

 MP:0001053 abnormal neuromuscular synapse "malformed or absent membrane to membrane contact of a motor axon and a muscle myofiber resulting in aberrant transmission of nerve impulses" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:60159, J:47439]
Show

Allelic Composition: Slurp1tm1.1Sgy/Slurp1tm1.1Sgy
Genetic Background: involves: 129 * C57BL/6

 MP:0001147 small testis "reduced size of the male reproductive glands" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:58959]
Show

Allelic Composition: Rab18m1Hongc/Rab18m1Hongc
Genetic Background: C57BL/6J-Rab18m1Hongc

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
Show

Allelic Composition: Rab18m1Hongc/Rab18m1Hongc
Genetic Background: C57BL/6J-Rab18m1Hongc

 MP:0001286 abnormal eye development "malformation or arrest of differentiation of the visual organ" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:49840]
Show

Allelic Composition: Slurp1tm1.1Sgy/Slurp1tm1.1Sgy
Genetic Background: involves: 129 * C57BL/6

 MP:0001297 microphthalmia "reduced average size of the eyes" [J:18048]
Show

Allelic Composition: Rab18m1Hongc/Rab18m1Hongc
Genetic Background: C57BL/6J-Rab18m1Hongc

 MP:0001317 abnormal pupil morphology "structural anomaly of the central circular aperture of the iris through which light rays enter the eye" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Slurp1tm1.1Sgy/Slurp1tm1.1Sgy
Genetic Background: involves: 129 * C57BL/6

 MP:0001393 ataxia "inability to coordinate voluntary muscular movements" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:67231]
Show

Allelic Composition: Rab18m1Hongc/Rab18m1Hongc
Genetic Background: C57BL/6J-Rab18m1Hongc

 MP:0001405 impaired coordination "reduced ability to execute integrated movements of muscle" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Rab18m1Hongc/Rab18m1Hongc
Genetic Background: C57BL/6J-Rab18m1Hongc

 MP:0001406 abnormal gait "unusual or distinctive way of walking" [J:65038]
Show

Allelic Composition: Rab18m1Hongc/Rab18m1Hongc
Genetic Background: C57BL/6J-Rab18m1Hongc

 MP:0001513 limb grasping "mice clasp front and/or hind feet almost immediately upon being lifted by tail" [cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
Show

Allelic Composition: Slurp1tm1.1Sgy/Slurp1tm1.1Sgy
Genetic Background: involves: 129 * C57BL/6

Allelic Composition: Rab18m1Hongc/Rab18m1Hongc
Genetic Background: C57BL/6J-Rab18m1Hongc

 MP:0001973 increased thermal nociceptive threshold "a greater than average point at which thermal pain sensation is first detectable" [What s Wrong With My Mouse?:ISBN 0-471-31639-3, J:17194]
Show

Allelic Composition: Rab18m1Hongc/Rab18m1Hongc
Genetic Background: C57BL/6J-Rab18m1Hongc

 MP:0002638 abnormal pupillary reflex "alterations or failure of the pupil to change in diamater as a reflex response to any stimulus" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
Show

Allelic Composition: Slurp1tm1.1Sgy/Slurp1tm1.1Sgy
Genetic Background: involves: 129 * C57BL/6

 MP:0002651 abnormal sciatic nerve "malformation, absence or misprojection of the nerve which originates in the lumbar and sacral spinal cord (L4 to S3) and supplies motor and sensory innervation to the lower extremity" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Slurp1tm1.1Sgy/Slurp1tm1.1Sgy
Genetic Background: involves: 129 * C57BL/6

 MP:0003632 abnormal nervous system morphology 
Show

Allelic Composition: Slurp1tm1.1Sgy/Slurp1tm1.1Sgy
Genetic Background: involves: 129 * C57BL/6

 MP:0003994 abnormal dorsal spinal root morphology "any anomaly, deformity, or malformation of the posterior bundle of nerves emerging from the spinal cord to join with the anterior/ventral nerve bundle at each spinal cord segment to form one of the 31 paired peripheral nerves" [brs:Beverly Richards-Smith, Mouse Genome Informatics Curator]
Show

Allelic Composition: Rab18m1Hongc/Rab18m1Hongc
Genetic Background: C57BL/6J-Rab18m1Hongc

 MP:0005405 axon degeneration "retrogressive pathologic change in the single process of a nerve cell " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Rab18m1Hongc/Rab18m1Hongc
Genetic Background: C57BL/6J-Rab18m1Hongc

 MP:0005498 hyporesponsive to tactile stimuli "reduced reflex action normally induced by touch or pain" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Rab18m1Hongc/Rab18m1Hongc
Genetic Background: C57BL/6J-Rab18m1Hongc

 MP:0006219 optic nerve degeneration "retrogressive pathologic change of the optic nerve" [ncbi:Matthew Mailman, NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Rab18m1Hongc/Rab18m1Hongc
Genetic Background: C57BL/6J-Rab18m1Hongc

 MP:0009121 increased white fat cell lipid droplet size "increase in the size of the single large lipid droplet or vacuole of white fat cells" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Slurp1tm1.1Sgy/Slurp1tm1.1Sgy
Genetic Background: involves: 129 * C57BL/6

 MP:0010254 nuclear cataracts "a lens opacity located in the dense, central part of the lens" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", ISBN:978-0-8493-0864-2 "Smith R.S. et al (ed.) Systematic Evaluation of the Mouse Eye: Anatomy, Pathology, and Biomethods"]
Show

Allelic Composition: Slurp1tm1.1Sgy/Slurp1tm1.1Sgy
Genetic Background: involves: 129 * C57BL/6

 MP:0011090 partial perinatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms within the perinatal period (Mus: E18.5 through postnatal day 1)" [MGI:csmith]
Show

Allelic Composition: Slurp1tm1.1Sgy/Slurp1tm1.1Sgy
Genetic Background: involves: 129 * C57BL/6

Allelic Composition: Rab18Gt(EUCE0233a03)Hmgu/Rab18+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0020378 abnormal cell cytoskeleton morphology "any anomaly in the structure of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm" [GO:0005856, MGI:mberry]
Show

Allelic Composition: Slurp1tm1.1Sgy/Slurp1tm1.1Sgy
Genetic Background: involves: 129 * C57BL/6

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000015291 Gdi1 / P50396 / Rab GDP dissociation inhibitor alpha / P31150* / GDP dissociation inhibitor 1*  / complex
 ENSMUSG00000025531 Chm / choroidermia (RAB escort protein 1) / P24386* / CHM, Rab escort protein 1*  / complex
 ENSMUSG00000036104 Q80UJ7 / Rab3gap1 / Rab3 GTPase-activating protein catalytic subunit / Q15042* / RAB3 GTPase activating protein catalytic subunit 1*  / reaction / complex
 ENSMUSG00000021218 Gdi2 / Q61598 / Rab GDP dissociation inhibitor beta / P50395* / GDP dissociation inhibitor 2*  / complex
 ENSMUSG00000039318 Rab3gap2 / RAB3 GTPase activating non-catalytic protein subunit 2 / Q9H2M9*  / reaction / complex
 ENSMUSG00000078185 Chml / choroideremia-like / P26374* / CHM like, Rab escort protein 2*  / complex






 

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