ENSMUSG00000039615


Mus musculus

Features
Gene ID: ENSMUSG00000039615
  
Biological name :Stub1
  
Synonyms : Q9WUD1 / STIP1 homology and U-Box containing protein 1 / Stub1
  
Possible biological names infered from orthology : Q9UNE7
  
Species: Mus musculus
  
Chr. number: 17
Strand: -1
Band: A3.3
Gene start: 25830636
Gene end: 25833361
  
Corresponding Affymetrix probe sets: 10449051 (MoGene1.0st)   1416580_a_at (Mouse Genome 430 2.0 Array)   1434412_x_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000040431
NCBI entrez gene - 56424     See in Manteia.
MGI - MGI:1891731
RefSeq - NM_019719
RefSeq Peptide - NP_062693
swissprot - Q9WUD1
Ensembl - ENSMUSG00000039615
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 stub1ENSDARG00000045228Danio rerio
 STUB1ENSGALG00000041432Gallus gallus
 STUB1ENSG00000103266Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Sgta / Q8BJU0 / small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha / O43765* / small glutamine rich tetratricopeptide repeat containing alpha*ENSMUSG0000000493711
Sgtb / Q8VD33 / Small glutamine-rich tetratricopeptide repeat-containing protein beta / Q96EQ0* / small glutamine rich tetratricopeptide repeat containing beta*ENSMUSG0000004274311
Ttc12 / Q8BW49 / tetratricopeptide repeat domain 12 / Q9H892*ENSMUSG0000004021911


Protein motifs (from Interpro)
Interpro ID Name
 IPR003613  U box domain
 IPR011990  Tetratricopeptide-like helical domain superfamily
 IPR013026  Tetratricopeptide repeat-containing domain
 IPR013083  Zinc finger, RING/FYVE/PHD-type
 IPR019734  Tetratricopeptide repeat


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000209 protein polyubiquitination IEA
 biological_processGO:0002931 response to ischemia IEA
 biological_processGO:0006281 DNA repair IEA
 biological_processGO:0006457 protein folding TAS
 biological_processGO:0006511 ubiquitin-dependent protein catabolic process IMP
 biological_processGO:0006515 protein quality control for misfolded or incompletely synthesized proteins IEA
 biological_processGO:0006974 cellular response to DNA damage stimulus IEA
 biological_processGO:0016567 protein ubiquitination TAS
 biological_processGO:0030433 ubiquitin-dependent ERAD pathway IEA
 biological_processGO:0030512 negative regulation of transforming growth factor beta receptor signaling pathway IEA
 biological_processGO:0030579 ubiquitin-dependent SMAD protein catabolic process IEA
 biological_processGO:0030968 endoplasmic reticulum unfolded protein response IDA
 biological_processGO:0031398 positive regulation of protein ubiquitination ISS
 biological_processGO:0031647 regulation of protein stability IEA
 biological_processGO:0031943 regulation of glucocorticoid metabolic process ISS
 biological_processGO:0032091 negative regulation of protein binding IDA
 biological_processGO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process ISS
 biological_processGO:0034605 cellular response to heat IEA
 biological_processGO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process IEA
 biological_processGO:0051443 positive regulation of ubiquitin-protein transferase activity IDA
 biological_processGO:0051604 protein maturation TAS
 biological_processGO:0051865 protein autoubiquitination IEA
 biological_processGO:0070534 protein K63-linked ubiquitination IEA
 biological_processGO:0071218 cellular response to misfolded protein IEA
 biological_processGO:0071456 cellular response to hypoxia IEA
 biological_processGO:0090035 positive regulation of chaperone-mediated protein complex assembly IEA
 cellular_componentGO:0000151 ubiquitin ligase complex IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm IEA
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0030018 Z disc IDA
 cellular_componentGO:0031371 ubiquitin conjugating enzyme complex TAS
 cellular_componentGO:0042405 nuclear inclusion body IEA
 molecular_functionGO:0001664 G-protein coupled receptor binding IEA
 molecular_functionGO:0004842 ubiquitin-protein transferase activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0019899 enzyme binding IEA
 molecular_functionGO:0019900 kinase binding IEA
 molecular_functionGO:0030544 Hsp70 protein binding TAS
 molecular_functionGO:0030674 protein binding, bridging TAS
 molecular_functionGO:0030911 TPR domain binding ISS
 molecular_functionGO:0031072 heat shock protein binding TAS
 molecular_functionGO:0031625 ubiquitin protein ligase binding IEA
 molecular_functionGO:0034450 ubiquitin-ubiquitin ligase activity IDA
 molecular_functionGO:0042803 protein homodimerization activity IEA
 molecular_functionGO:0046332 SMAD binding IEA
 molecular_functionGO:0051787 misfolded protein binding IEA
 molecular_functionGO:0051879 Hsp90 protein binding IEA
 molecular_functionGO:0061630 ubiquitin protein ligase activity IEA


Pathways (from Reactome)
Pathway description
Downregulation of TGF-beta receptor signaling
Downregulation of ERBB2 signaling
Regulation of RUNX2 expression and activity
Regulation of PTEN stability and activity
Antigen processing: Ubiquitination & Proteasome degradation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000849 abnormal cerebellum morphology "any malformation or absence of the part of the metencephalon that lies in the posterior cranial fossa dorsal to the pons and medulla that is concerned with the coordination of movement and learning of motor skills" [J:50311, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Stub1tm1Cpat/Stub1tm1Cpat
Genetic Background: involves: 129S/SvEv

 MP:0000876 Purkinje cell degeneration "a retrogressive impairment of function or destruction of the large neurons located at the interface of the molecular and internal granule layers of the cerebellar cortex" [J:46854]
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Allelic Composition: Stub1tm1Cpat/Stub1tm1Cpat
Genetic Background: involves: 129S/SvEv

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Casp9tm1Flv/Casp9tm1Flv
Genetic Background: B6.129S1-Casp9tm1Flv

Allelic Composition: Stub1tm1Atak/Stub1tm1Atak
Genetic Background: B6.Cg-Stub1tm1Atak

 MP:0001393 ataxia "inability to coordinate voluntary muscular movements" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:67231]
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Allelic Composition: Stub1tm1Atak/Stub1tm1Atak
Genetic Background: B6.Cg-Stub1tm1Atak

Allelic Composition: Stub1tm1Cpat/Stub1tm1Cpat
Genetic Background: involves: 129S/SvEv

 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]
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Allelic Composition: Stub1tm1Cpat/Stub1tm1Cpat
Genetic Background: involves: 129S/SvEv

 MP:0001407 short stride length "reduced average distance between steps" [J:34193]
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Allelic Composition: Stub1tm1Cpat/Stub1tm1Cpat
Genetic Background: involves: 129S/SvEv

 MP:0001413 abnormal response to new environment "altered investigative behavior from controls in reactions associated with placing an animal in a new location" [CFG:Center for Functional Genomics , Northwestern University]
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Allelic Composition: Ghrtm1c(KOMP)Wtsi/Ghrtm1c(KOMP)Wtsi,Tg(Fabp4-cre)1Rev/0
Genetic Background: involves: C57BL/6N

 MP:0001489 decreased startle reflex "greater threshold or less severe reflex response to variable stimuli, often auditory; usually measured by amplitude of whole body flinch" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, What s Wrong With My Mouse?:ISBN 0-471-31639-3]
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Allelic Composition: Stub1tm1Cpat/Stub1tm1Cpat
Genetic Background: involves: 129S/SvEv

 MP:0001648 abnormal apoptosis "excessive or absent cell death in a particular tissue or cell type" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:25248]
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Allelic Composition: Slc11a1s/Slc11a1s
Genetic Background: C57BL/6J

 MP:0001823 thymus hypoplasia "small size due to reduced cell number in the thymus" [J:23255]
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Allelic Composition: Slc11a1s/Slc11a1s
Genetic Background: C57BL/6J

 MP:0001921 reduced fertility "diminished ability to produce live offspring" [J:65030]
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Allelic Composition: Stub1tm1Cpat/Stub1tm1Cpat
Genetic Background: involves: 129S/SvEv

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Casp9tm1Flv/Casp9tm1Flv
Genetic Background: B6.129S1-Casp9tm1Flv

 MP:0003644 thymus atrophy "wasting of the thymus resulting in reduced size " [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Slc11a1s/Slc11a1s
Genetic Background: C57BL/6J

 MP:0004087 abnormal muscle fiber morphology "malformed or poorly developed muscle fibers, the cylindrical multinucleated muscle cells that contract when stimulated" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Slc11a1s/Slc11a1s
Genetic Background: C57BL/6J

 MP:0004088 abnormal sarcoplasmic reticulum morphology "any structural abnormality in the endoplasmic reticulum of skeletal and cardiac muscle, i.e. the complex of vesicles, tubules, and cisternae that form a continuous structure around striated myofibrils, with a repetition of structure within each sarcomere " [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Slc11a1s/Slc11a1s
Genetic Background: C57BL/6J

 MP:0004250 tau protein deposits "formation of self-assembled tangles of paired helical filaments and straight filaments due to hyperphosphorylation of the tau protein; often seen in neuronal tissues of individuals with neurodegenerative disorders" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Stub1tm1Atak/Stub1tm1Atak
Genetic Background: B6.Cg-Stub1tm1Atak

 MP:0004852 decreased testis weight "reduced average weight of the male reproductive glands" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Stub1tm1Cpat/Stub1tm1Cpat
Genetic Background: involves: 129S/SvEv

 MP:0005130 decreased follicle stimulating hormone level "less than expected concentration of the hormone that, in females, stimulates the graafian follicles of the ovary and assists in follicular maturation and the secretion of estradiol; in the male it stimulates the epithelium of the seminiferous tubules and is partly responsible for spermatogenesis " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Stub1tm1Cpat/Stub1tm1Cpat
Genetic Background: involves: 129S/SvEv

 MP:0005165 increased susceptibility to injury "greater than the normal reaction to trauma, especially that by physical means" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Slc11a1s/Slc11a1s
Genetic Background: C57BL/6J

 MP:0005619 increased potassium excretion "greater than the normal amount of this alkaline metallic element, the most abundant intracellular ion, voided by the kidneys" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, RGD:Rat Genome Database submission]
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Allelic Composition: Slc11a1s/Slc11a1s
Genetic Background: C57BL/6J

Allelic Composition: Stub1em1Schiz/Stub1em1Schiz
Genetic Background: C57BL/6J-Stub1em1Schiz

 MP:0005621 abnormal cell physiology "aberration in the vital processes of the cell " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, hdene:Howard Dene , Mouse Genome Informatics Curator]
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Allelic Composition: Slc11a1s/Slc11a1s
Genetic Background: C57BL/6J

 MP:0006316 increased urine sodium level "higher than normal concentration of sodium in the urine" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Slc11a1s/Slc11a1s
Genetic Background: C57BL/6J

Allelic Composition: Stub1em1Schiz/Stub1em1Schiz
Genetic Background: C57BL/6J-Stub1em1Schiz

 MP:0008055 increased urine osmolality "increase in the concentration of ions in the urine compared to the normal state" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Slc11a1s/Slc11a1s
Genetic Background: C57BL/6J

Allelic Composition: Stub1em1Schiz/Stub1em1Schiz
Genetic Background: C57BL/6J-Stub1em1Schiz

 MP:0008572 abnormal Purkinje cell dendrite morphology "any strucutral anomaly of the Purkinje cell body projections with hundreds of parallel spiny branches reaching up into the molecular layer" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Stub1tm1Cpat/Stub1tm1Cpat
Genetic Background: involves: 129S/SvEv

 MP:0009409 abnormal skeletal muscle fiber type ratio "deviation from the standard ratios of fiber types in a given skeletal muscle compared to control samples" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Slc11a1s/Slc11a1s
Genetic Background: C57BL/6J

 MP:0009541 increased thymocyte apoptosis "increase in the number of immature T cells located in the thymus that are undergoing programmed cell death" [CL:0000893, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Slc11a1s/Slc11a1s
Genetic Background: C57BL/6J

 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]
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Allelic Composition: Slc11a1s/Slc11a1s
Genetic Background: C57BL/6J

Allelic Composition: Stub1tm1Atak/Stub1tm1Atak
Genetic Background: B6.Cg-Stub1tm1Atak

 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]
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Allelic Composition: Slc11a1s/Slc11a1s
Genetic Background: C57BL/6J

 MP:0011459 increased urine chloride ion level "abnormally large amounts of chloride ion in the urine" [MGI:csmith]
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Allelic Composition: Slc11a1s/Slc11a1s
Genetic Background: C57BL/6J

Allelic Composition: Stub1em1Schiz/Stub1em1Schiz
Genetic Background: C57BL/6J-Stub1em1Schiz

 MP:0011466 increased urine urea nitrogen level "abnormally high amounts of nitrogen in the form of urea in the urine" [MGI:csmith]
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Allelic Composition: Slc11a1s/Slc11a1s
Genetic Background: C57BL/6J

Allelic Composition: Stub1em1Schiz/Stub1em1Schiz
Genetic Background: C57BL/6J-Stub1em1Schiz

 MP:0011470 increased urine creatinine level "an increased amount of creatinine in the urine compared to the normal state" [MGI:csmith]
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Allelic Composition: Slc11a1s/Slc11a1s
Genetic Background: C57BL/6J

Allelic Composition: Stub1em1Schiz/Stub1em1Schiz
Genetic Background: C57BL/6J-Stub1em1Schiz

 MP:0011942 decreased fluid intake "reduction in the total amount of fluid taken in over time when compared to the normal state" [MGI:csmith]
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Allelic Composition: Slc11a1s/Slc11a1s
Genetic Background: C57BL/6J

Allelic Composition: Stub1em1Schiz/Stub1em1Schiz
Genetic Background: C57BL/6J-Stub1em1Schiz

 MP:0012307 impaired spatial learning "impaired ability to ascertain or acquire spatial location information in order to improve navigation or other behavior using such location cues" [MGI:csmith]
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Allelic Composition: Stub1tm1Cpat/Stub1tm1Cpat
Genetic Background: involves: 129S/SvEv

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000032402 Smad3 / Q8BUN5 / Mothers against decapentaplegic homolog 3 / P84022* / SMAD family member 3*  / reaction / complex
 ENSMUSG00000039153 Runx2 / Q08775 / runt related transcription factor 2 / Q13950*  / complex / reaction






 

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