ENSMUSG00000006930


Mus musculus

Features
Gene ID: ENSMUSG00000006930
  
Biological name :Hap1
  
Synonyms : Hap1 / Huntingtin-associated protein 1 / O35668
  
Possible biological names infered from orthology : P54257
  
Species: Mus musculus
  
Chr. number: 11
Strand: -1
Band: D
Gene start: 100347327
Gene end: 100356128
  
Corresponding Affymetrix probe sets: 10391084 (MoGene1.0st)   1416997_a_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000099413
Ensembl peptide - ENSMUSP00000133356
Ensembl peptide - ENSMUSP00000133831
Ensembl peptide - ENSMUSP00000134050
Ensembl peptide - ENSMUSP00000134625
NCBI entrez gene - 15114     See in Manteia.
MGI - MGI:1261831
RefSeq - XM_011248744
RefSeq - XM_011248746
RefSeq - XM_011248745
RefSeq - NM_010404
RefSeq - NM_177981
RefSeq Peptide - NP_034534
RefSeq Peptide - NP_817090
swissprot - O35668
swissprot - G3UYE4
swissprot - G3UXU7
swissprot - G3UZT4
Ensembl - ENSMUSG00000006930
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 HAP1ENSG00000173805Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Trak1 / Q6PD31 / trafficking protein, kinesin binding 1 / Q9UPV9* / trafficking kinesin protein 1*ENSMUSG0000003253622
Trak2 / trafficking protein, kinesin binding 2 / O60296* / trafficking kinesin protein 2*ENSMUSG0000002602820


Protein motifs (from Interpro)
Interpro ID Name
 IPR006933  HAP1, N-terminal


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006887 exocytosis IEA
 biological_processGO:0006914 autophagy IEA
 biological_processGO:0008089 anterograde axonal transport ISS
 biological_processGO:0008090 retrograde axonal transport ISS
 biological_processGO:0008104 protein localization ISO
 biological_processGO:0015031 protein transport IEA
 biological_processGO:0017157 regulation of exocytosis IMP
 biological_processGO:0021549 cerebellum development IMP
 biological_processGO:0021979 hypothalamus cell differentiation IMP
 biological_processGO:0022008 neurogenesis IMP
 biological_processGO:0030030 cell projection organization IEA
 biological_processGO:0031587 positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ISS
 biological_processGO:0032230 positive regulation of synaptic transmission, GABAergic ISS
 biological_processGO:0032901 positive regulation of neurotrophin production ISS
 biological_processGO:0045742 positive regulation of epidermal growth factor receptor signaling pathway ISS
 biological_processGO:0047496 vesicle transport along microtubule IMP
 biological_processGO:0048011 neurotrophin TRK receptor signaling pathway IMP
 biological_processGO:0050769 positive regulation of neurogenesis IMP
 biological_processGO:1902430 negative regulation of amyloid-beta formation ISS
 biological_processGO:1902513 regulation of organelle transport along microtubule IMP
 biological_processGO:1902857 positive regulation of non-motile cilium assembly IMP
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005764 lysosome IEA
 cellular_componentGO:0005776 autophagosome IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005813 centrosome IDA
 cellular_componentGO:0005814 centriole IDA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0008021 synaptic vesicle IEA
 cellular_componentGO:0016234 inclusion body ISO
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0030424 axon IEA
 cellular_componentGO:0031410 cytoplasmic vesicle IDA
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0045202 synapse IEA
 cellular_componentGO:1904115 axon cytoplasm IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0044325 ion channel binding ISS
 molecular_functionGO:0048403 brain-derived neurotrophic factor binding ISS


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000774 reduced brain size "smaller appearance of the brain" [J:35802]
Show

Allelic Composition: Pdgfbtm3.1Cbet/Pdgfbtm3.1Cbet
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0000788 abnormal cerebral cortex morphology "malformed gray cellular mantle covering the surface of the brain" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:38857]
Show

Allelic Composition: Pdgfbtm3.1Cbet/Pdgfbtm3.1Cbet
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0000837 abnormal hypothalamus morphology "any malformation or absence of the ventral part of the diencephalon extending from the region of the optic chiasm to the caudal border of the mammillary bodies and forming the inferior and lateral walls of the third ventricle; this region regulates the autonomic nervous system via hormone production and release" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Pdgfbtm3.1Cbet/Pdgfbtm3.1Cbet
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Hap1tm2Xjl/Hap1tm2Xjl,Tg(HCRT-cre)1Stak/0
Genetic Background: involves: 129 * C57BL/6 * DBA/1

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

Allelic Composition: Pdgfbtm3.1Cbet/Pdgfbtm3.1Cbet
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Hap1tm2Xjl/Hap1tm2Xjl,Tg(HCRT-cre)1Stak/0
Genetic Background: involves: 129 * C57BL/6 * DBA/1

Allelic Composition: Hap1tm2Xjl/Hap1tm2Xjl,Tg(Camk2a-cre)159Kln/0
Genetic Background: involves: 129S6/SvEvTac * BALB/c * C57BL/6

 MP:0001265 reduced body size "smaller than average body weight, height and/or length of an organism compared to controls" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:23170]
Show

Allelic Composition: Pdgfbtm3.1Cbet/Pdgfbtm3.1Cbet
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0001402 hypoactivity "reduced movement from one place to another" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:64289]
Show

Allelic Composition: Hap1tm2Xjl/Hap1tm2Xjl,Tg(HCRT-cre)1Stak/0
Genetic Background: involves: 129 * C57BL/6 * DBA/1

Allelic Composition: Hap1tm2Xjl/Hap1tm2Xjl,Tg(CAG-cre/Esr1*)5Amc/0
Genetic Background: involves: 129 * C57BL/6 * CBA

 MP:0001429 dehydration "excessive water loss from the body or from an organ or bodily part" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:50053]
Show

Allelic Composition: Pdgfbtm3.1Cbet/Pdgfbtm3.1Cbet
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0001431 abnormal eating behavior "inability to consume or atypical consumption pattern" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:19212]
Show

Allelic Composition: Pdgfbtm3.1Cbet/Pdgfbtm3.1Cbet
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0001436 abnormal suckling behavior "reduced ability or inability to exert suction by the mouth, or atypical suckling pattern" [J:16461]
Show

Allelic Composition: Mtorflat/Mtorflat
Genetic Background: Not Specified

Allelic Composition: Hap1tm1Id/Hap1tm2Id
Genetic Background: involves: 129S1/Sv * C57BL/6

Allelic Composition: Hap1tm2Id/Hap1tm2Id
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0001516 abnormal motor coordination/ balance "altered ability of an animal to maintain skillful and effective interaction of movements or maintenance of equilibrium" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Cyp2c23tm1.1Jhc/Cyp2c23tm1.1Jhc,Tg(Hoxb7-cre)13Amc/0
Genetic Background: involves: C57BL/6

 MP:0001698 reduced embryo size "smaller proportions of embryo compared to littermates" [J:61790]
Show

Allelic Composition: Hap1tm1Id/Hap1tm2Id,Tg(Camk2a-cre)2Szi/0
Genetic Background: involves: 129S1/Sv * C57BL/6 * CBA

Allelic Composition: Hap1tm1Id/Hap1+,Htttm1Szi/Htttm1Szi
Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6

 MP:0001732 postnatal growth retardation "slow or limited development after birth " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Mtorflat/Mtorflat
Genetic Background: Not Specified

Allelic Composition: Hap1tm1Id/Hap1tm2Id
Genetic Background: involves: 129S1/Sv * C57BL/6

Allelic Composition: Hap1tm1Id/Hap1tm2Id,Tg(Camk2a-cre)2Szi/0
Genetic Background: involves: 129S1/Sv * C57BL/6 * CBA

Allelic Composition: Hap1tm2Id/Hap1tm2Id
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0002175 low brain weight "lower than average weight of the brain" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Pdgfbtm3.1Cbet/Pdgfbtm3.1Cbet
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0002229 CNS neurodegeneration "a retrogressive impairment of function or destruction of neural tissue" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Pdgfbtm3.1Cbet/Pdgfbtm3.1Cbet
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0003064 decreased coping response "reduced ability to respond productively to a stressful situation" [RGD:Rat Genome Database submission]
Show

Allelic Composition: Hap1tm2Xjl/Hap1tm2Xjl,Tg(CAG-cre/Esr1*)5Amc/0
Genetic Background: involves: 129 * C57BL/6 * CBA

Allelic Composition: Hap1tm2Xjl/Hap1tm2Xjl,Tg(Camk2a-cre)159Kln/0
Genetic Background: involves: 129S6/SvEvTac * BALB/c * C57BL/6

 MP:0003717 pallor "an unnatural paleness to the skin, generally attributable to anemia" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Pdgfbtm3.1Cbet/Pdgfbtm3.1Cbet
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0003853 dry skin "skin characterized by the lack of natural or normal moisture" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: Pdgfbtm3.1Cbet/Pdgfbtm3.1Cbet
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0005421 loose skin "condition in which the skin hangs in folds" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Pdgfbtm3.1Cbet/Pdgfbtm3.1Cbet
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0005668 decreased circulating leptin level "less than the normal blood concentration of the peptide hormone secreted by white adipocytes and believed to regulate food intake and energy balance" [MeSH:National Library of Medicine - Medical Subject Headings, 2003, J:34751]
Show

Allelic Composition: Pdgfbtm3.1Cbet/Pdgfbtm3.1Cbet
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0006254 thin cerebral cortex "decreased depth of the mantle covering the surface of the cerebral hemispheres" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:84683]
Show

Allelic Composition: Pdgfbtm3.1Cbet/Pdgfbtm3.1Cbet
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0006386 absent somites "missing all somites" [MGI:rbabiuk "Randall Babiuk, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Hap1tm1Id/Hap1tm1Id,Htttm1Szi/Htttm1Szi
Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6

Allelic Composition: Hap1tm1Id/Hap1+,Htttm1Szi/Htttm1Szi
Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6

 MP:0008415 abnormal neurite morphology "any structural anomaly of a neuronal process, either a dendrite or an axon in vivo, or a filamentous projection from a neuron such as is seen in tissue culture" [PMID:12951572]
Show

Allelic Composition: Hap1tm2Xjl/Hap1tm2Xjl,Tg(HCRT-cre)1Stak/0
Genetic Background: involves: 129 * C57BL/6 * DBA/1

 MP:0008489 postnatal slow weight gain "the weight gain over a span of postnatal developmental time is slower than controls, with or without ever attaining a similar weight to controls as adults" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pdgfbtm3.1Cbet/Pdgfbtm3.1Cbet
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Hap1tm1Hay/Hap1tm1Hay
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * ICR

 MP:0008546 abnormal vesicle-mediated transport "anomaly in the directed movement of substances, either within a vesicle or in the vesicle membrane, into, out of or within a cell" [GO:0016192]
Show

Allelic Composition: Apctm1Rsmi/Apctm1Rsmi,Pgrtm2(cre)Lyd/Pgr+
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0008845 abnormal paraventricular hypothalamic nucleus morphology "any structural anomaly of a group of magnocellular neurons located in the periventricular zone of the anterior half of the hypothalamus" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Pdgfbtm3.1Cbet/Pdgfbtm3.1Cbet
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0009546 absent gastric milk in neonates "failure of nursing offspring to ingest milk as indicated by stomach content" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pdgfbtm3.1Cbet/Pdgfbtm3.1Cbet
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Hap1tm1Hay/Hap1tm1Hay
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * ICR

Allelic Composition: Hap1tm1Id/Hap1tm1Id
Genetic Background: involves: 129 * C57BL/6

 MP:0009710 anhedonia "inability to experience pleasure in response to normally pleasurable stimuli" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Hap1tm2Xjl/Hap1tm2Xjl,Tg(Camk2a-cre)159Kln/0
Genetic Background: involves: 129S6/SvEvTac * BALB/c * C57BL/6

 MP:0009967 abnormal neuron proliferation "any anomaly in the ability of a neuron to undergo rapid expansion by cell division" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Hap1tm2Xjl/Hap1tm2Xjl,Tg(CAG-cre/Esr1*)5Amc/0
Genetic Background: involves: 129 * C57BL/6 * CBA

Allelic Composition: Hap1tm2Xjl/Hap1tm2Xjl,Tg(Camk2a-cre)159Kln/0
Genetic Background: involves: 129S6/SvEvTac * BALB/c * C57BL/6

 MP:0011085 complete postnatal lethality "premature death anytime between the neonatal period and weaning age of all organisms of a given genotype in a population (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Pdgfbtm3.1Cbet/Pdgfbtm3.1Cbet
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Hap1tm1Hay/Hap1tm1Hay
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * ICR

Allelic Composition: Hap1tm1Id/Hap1tm2Id
Genetic Background: involves: 129S1/Sv * C57BL/6

Allelic Composition: Hap1tm2Id/Hap1tm2Id
Genetic Background: involves: 129S1/Sv * C57BL/6

 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: Hap1tm1Id/Hap1tm1Id
Genetic Background: involves: 129 * C57BL/6

 MP:0011827 impaired neuron differentiation "decreased production of or inability to produce the mature cells of the nervous system that receive, conduct, and transmit impulses" [MGI:csmith]
Show

Allelic Composition: Hap1tm2Xjl/Hap1tm2Xjl,Tg(CAG-cre/Esr1*)5Amc/0
Genetic Background: involves: 129 * C57BL/6 * CBA

 MP:0011940 decreased food intake "reduction in the total number of calories/food amount taken in over time when compared to the normal state" [MGI:csmith]
Show

Allelic Composition: Hap1tm2Xjl/Hap1tm2Xjl,Tg(HCRT-cre)1Stak/0
Genetic Background: involves: 129 * C57BL/6 * DBA/1

 MP:0012165 absent neural folds "absence of the elevated margins of the neural groove" [MGI:csmith]
Show

Allelic Composition: Hap1tm1Id/Hap1tm1Id,Htttm1Szi/Htttm1Szi
Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6

Allelic Composition: Hap1tm1Id/Hap1+,Htttm1Szi/Htttm1Szi
Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6

 MP:0020556 abnormal ventromedial hypothalamic nucleus morphology "any structural anomaly of a circumscript ovoid group of small neurons in the medial zone of the tuberal region of the hypothalamus delineated by a narrow, cell-sparse zone; this region regulates feeding, fear, thermoregulation and sexual activity" []
Show

Allelic Composition: Pdgfbtm3.1Cbet/Pdgfbtm3.1Cbet
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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