ENSMUSG00000036529


Mus musculus

Features
Gene ID: ENSMUSG00000036529
  
Biological name :Sbf1
  
Synonyms : Q6ZPE2 / Sbf1 / SET binding factor 1
  
Possible biological names infered from orthology : O95248
  
Species: Mus musculus
  
Chr. number: 15
Strand: -1
Band: E3
Gene start: 89288236
Gene end: 89315311
  
Corresponding Affymetrix probe sets: 10431486 (MoGene1.0st)   1430552_a_at (Mouse Genome 430 2.0 Array)   1434707_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000135351
Ensembl peptide - ENSMUSP00000120725
Ensembl peptide - ENSMUSP00000122386
Ensembl peptide - ENSMUSP00000115740
Ensembl peptide - ENSMUSP00000118107
Ensembl peptide - ENSMUSP00000119943
NCBI entrez gene - 77980     See in Manteia.
MGI - MGI:1925230
RefSeq - XM_017316800
RefSeq - NM_001170561
RefSeq - XM_006521538
RefSeq - XM_006521539
RefSeq - XM_017316796
RefSeq - XM_017316797
RefSeq - XM_017316798
RefSeq - XM_017316799
RefSeq - NM_001081030
RefSeq Peptide - NP_001074499
RefSeq Peptide - NP_001164032
swissprot - F6S251
swissprot - F7AWK3
swissprot - D6RG52
swissprot - Q6ZPE2
swissprot - H3BKD9
Ensembl - ENSMUSG00000036529
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 sbf1ENSDARG00000062968Danio rerio
 SBF1ENSGALG00000043178Gallus gallus
 SBF1ENSG00000100241Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Sbf2 / SET binding factor 2 / Q86WG5*ENSMUSG0000003837157
Mtmr4 / Q91XS1 / Mus musculus myotubularin related protein 4 (Mtmr4), transcript variant 2, mRNA. / Q9NYA4* / myotubularin related protein 4*ENSMUSG0000001840111
Mtmr3 / myotubularin related protein 3 / Q13615*ENSMUSG0000003435411
Mtmr2 / Q9Z2D1 / Myotubularin-related protein 2 / Q13614*ENSMUSG0000003191811
Mtmr1 / Q9Z2C4 / Myotubularin-related protein 1 / Q13613*ENSMUSG0000001521410
Mtm1 / Q9Z2C5 / X-linked myotubular myopathy gene 1 / Q13496* / myotubularin 1*ENSMUSG000000313379
Mtmr6 / Q8VE11 / Myotubularin-related protein 6 / Q9Y217*ENSMUSG000000219879
Mtmr7 / Q9Z2C9 / Myotubularin-related protein 7 / Q9Y216*ENSMUSG000000394319
Mtmr9 / Q9Z2D0 / Myotubularin-related protein 9 / Q96QG7*ENSMUSG000000350788


Protein motifs (from Interpro)
Interpro ID Name
 IPR001194  cDENN domain
 IPR001849  Pleckstrin homology domain
 IPR004182  GRAM domain
 IPR005112  dDENN domain
 IPR005113  uDENN domain
 IPR010569  Myotubularin-like phosphatase domain
 IPR011993  PH-like domain superfamily
 IPR022096  SBF1/SBF2 domain
 IPR029021  Protein-tyrosine phosphatase-like
 IPR030564  Myotubularin family
 IPR030574  Myotubularin-related protein 5
 IPR037516  Tripartite DENN domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001558 regulation of cell growth TAS
 biological_processGO:0007283 spermatogenesis IMP
 biological_processGO:0043086 negative regulation of catalytic activity IEA
 biological_processGO:0043087 regulation of GTPase activity IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0016604 nuclear body IEA
 molecular_functionGO:0001691 pseudophosphatase activity TAS
 molecular_functionGO:0005085 guanyl-nucleotide exchange factor activity IEA
 molecular_functionGO:0017112 Rab guanyl-nucleotide exchange factor activity IEA
 molecular_functionGO:0019208 phosphatase regulator activity IEA


Pathways (from Reactome)
Pathway description
Synthesis of PIPs at the ER membrane
RAB GEFs exchange GTP for GDP on RABs


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 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: Erbb2tm3(Erbb2)Mul/Erbb2tm3(Erbb2)Mul
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0001156 abnormal spermatogenesis "incomplete maturation or aberrant formation of the male gametes" [J:58959]
Show

Allelic Composition: Erbb2tm3(Erbb2)Mul/Erbb2tm3(Erbb2)Mul
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0001925 male infertility "inability of male to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409]
Show

Allelic Composition: Erbb2tm3(Erbb2)Mul/Erbb2tm3(Erbb2)Mul
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0002216 abnormal seminiferous tubule morphology "malformation of the tubules in the testes where spermatogenesis occurs" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Erbb2tm3(Erbb2)Mul/Erbb2tm3(Erbb2)Mul
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0005159 azoospermia "absence of living spermatozoa " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Erbb2tm3(Erbb2)Mul/Erbb2tm3(Erbb2)Mul
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0006380 abnormal spermatid morphology "anomaly in the number or structure of the male germ cells that without further cell division give rise to mature spermatozoa" [ISBN:0-8036-0655-99 "Taber s Cyclopedic Medical Dictionary, 19th edition", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Erbb2tm3(Erbb2)Mul/Erbb2tm3(Erbb2)Mul
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0011086 partial postnatal 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 anytime between the neonatal period and weaning age (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Erbb2tm3(Erbb2)Mul/Erbb2tm3(Erbb2)Mul
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000025531 Chm / choroidermia (RAB escort protein 1) / P24386* / CHM, Rab escort protein 1*  / reaction
 ENSMUSG00000031918 Mtmr2 / Q9Z2D1 / Myotubularin-related protein 2 / Q13614*  / reaction / complex
 ENSMUSG00000021218 Gdi2 / Q61598 / Rab GDP dissociation inhibitor beta / P50395* / GDP dissociation inhibitor 2*  / reaction
 ENSMUSG00000015291 Gdi1 / P50396 / Rab GDP dissociation inhibitor alpha / P31150* / GDP dissociation inhibitor 1*  / reaction
 ENSMUSG00000078185 Chml / choroideremia-like / P26374* / CHM like, Rab escort protein 2*  / reaction
 ENSMUSG00000020132 Rab21 / P35282 / RAB21, member RAS oncogene family / Q9UL25*  / reaction






 

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