ENSMUSG00000033396


Mus musculus

Features
Gene ID: ENSMUSG00000033396
  
Biological name :Spg11
  
Synonyms : Q3UHA3 / Spatacsin / Spg11
  
Possible biological names infered from orthology : Q96JI7 / SPG11, spatacsin vesicle trafficking associated
  
Species: Mus musculus
  
Chr. number: 2
Strand: -1
Band: E5
Gene start: 122053520
Gene end: 122118386
  
Corresponding Affymetrix probe sets: 10486898 (MoGene1.0st)   1426451_at (Mouse Genome 430 2.0 Array)   1445021_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000037543
NCBI entrez gene - 214585     See in Manteia.
MGI - MGI:2444989
RefSeq - XM_011239423
RefSeq - NM_145531
RefSeq - XM_006499109
RefSeq - XM_011239422
RefSeq - XM_006499108
RefSeq Peptide - NP_663506
swissprot - Q3UHA3
Ensembl - ENSMUSG00000033396
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 spg11ENSDARG00000045968Danio rerio
 SPG11ENSGALG00000008180Gallus gallus
 SPG11ENSG00000104133Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR015943  WD40/YVTN repeat-like-containing domain superfamily
 IPR028103  Spatacsin
 IPR028107  Spatacsin, C-terminal domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007040 lysosome organization IMP
 biological_processGO:0007268 chemical synaptic transmission IEA
 biological_processGO:0007409 axonogenesis ISO
 biological_processGO:0008088 axo-dendritic transport IEA
 biological_processGO:0048167 regulation of synaptic plasticity ISO
 biological_processGO:0048489 synaptic vesicle transport IEA
 biological_processGO:0048675 axon extension IMP
 biological_processGO:0090389 phagosome-lysosome fusion involved in apoptotic cell clearance IMP
 biological_processGO:0090659 walking behavior IMP
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005730 nucleolus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0030424 axon IDA
 cellular_componentGO:0030425 dendrite IEA
 cellular_componentGO:0031410 cytoplasmic vesicle IEA
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0045202 synapse ISO
 molecular_functionGO:0003674 molecular_function ND
 molecular_functionGO:0005515 protein binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 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]
Show

Allelic Composition: Del(1Aim2-Ifi205)1Stsn/Del(1Aim2-Ifi205)1Stsn,Trex1tm1Tld/Trex1tm1Tld
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJaeSor * C57BL/6N

 MP:0000877 abnormal Purkinje cell "any structural anomaly of the neurons located at the interface of the molecular and internal granule layers of the cerebellar cortex; these inhibitory neurons provide the output of the cerebellar cortex through axons that project into the white matter, and extensive dendritic trees from the Purkinje cells extend upward in a single plane into the molecular layer where they synapse with parallel fibers of granule cells" [J:46140, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
Show

Allelic Composition: Del(1Aim2-Ifi205)1Stsn/Del(1Aim2-Ifi205)1Stsn,Trex1tm1Tld/Trex1tm1Tld
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJaeSor * C57BL/6N

 MP:0000938 motor neuron degeneration "retrogressive impairment of function or destruction of the cells that innervate an effector (muscle or glandular) tissue" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Del(1Aim2-Ifi205)1Stsn/Del(1Aim2-Ifi205)1Stsn,Trex1tm1Tld/Trex1tm1Tld
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJaeSor * C57BL/6N

 MP:0001263 weight loss "progressive reduction of body weight below normal average for age" [J:45400]
Show

Allelic Composition: Del(1Aim2-Ifi205)1Stsn/Del(1Aim2-Ifi205)1Stsn,Trex1tm1Tld/Trex1tm1Tld
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJaeSor * C57BL/6N

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

Allelic Composition: Del(1Aim2-Ifi205)1Stsn/Del(1Aim2-Ifi205)1Stsn,Trex1tm1Tld/Trex1tm1Tld
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJaeSor * C57BL/6N

 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: Del(1Aim2-Ifi205)1Stsn/Del(1Aim2-Ifi205)1Stsn,Trex1tm1Tld/Trex1tm1Tld
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJaeSor * C57BL/6N

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

Allelic Composition: Del(1Aim2-Ifi205)1Stsn/Del(1Aim2-Ifi205)1Stsn,Trex1tm1Tld/Trex1tm1Tld
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJaeSor * C57BL/6N

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

Allelic Composition: Del(1Aim2-Ifi205)1Stsn/Del(1Aim2-Ifi205)1Stsn,Trex1tm1Tld/Trex1tm1Tld
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJaeSor * C57BL/6N

 MP:0002878 abnormal corticospinal tract "anomaly in the structure or function of the fibers that arise from the cells within the cerebral cortex, pass through the medullary pyramid, and descend in the spinal cord" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Del(1Aim2-Ifi205)1Stsn/Del(1Aim2-Ifi205)1Stsn,Trex1tm1Tld/Trex1tm1Tld
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJaeSor * C57BL/6N

 MP:0002882 abnormal neuron "anomaly in the functional cells of the nervous system that receive, conduct, and transmit impulses " [MeSH:National Library of Medicine - Medical Subject Headings, 2003]
Show

Allelic Composition: Del(1Aim2-Ifi205)1Stsn/Del(1Aim2-Ifi205)1Stsn,Trex1tm1Tld/Trex1tm1Tld
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJaeSor * C57BL/6N

 MP:0003172 abnormal lysosome physiology "ability of lysosomes to produce enzymes necessary for digestion of exogenous material is impaired" [llw2:Linda Washburn , Mouse Genome Informatics Curator]
Show

Allelic Composition: Del(1Aim2-Ifi205)1Stsn/Del(1Aim2-Ifi205)1Stsn,Trex1tm1Tld/Trex1tm1Tld
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJaeSor * C57BL/6N

 MP:0003224 neuron degeneration "a retrogressive impairment of function or destruction of the functional cells of the nervous system that receive, conduct, and transmit impulses " [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Del(1Aim2-Ifi205)1Stsn/Del(1Aim2-Ifi205)1Stsn,Trex1tm1Tld/Trex1tm1Tld
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJaeSor * C57BL/6N

 MP:0003354 astrocytosis "a proliferation or spread of astrocytes in the area of a degenerative lesion or damaged tissue" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Del(1Aim2-Ifi205)1Stsn/Del(1Aim2-Ifi205)1Stsn,Trex1tm1Tld/Trex1tm1Tld
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJaeSor * C57BL/6N

 MP:0005058 abnormal lysosome morphology "anomalous structure of any of the cytoplasmic, membrane bound vesicles that contain a variety of hydrolases" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Del(1Aim2-Ifi205)1Stsn/Del(1Aim2-Ifi205)1Stsn,Trex1tm1Tld/Trex1tm1Tld
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJaeSor * C57BL/6N

 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: Del(1Aim2-Ifi205)1Stsn/Del(1Aim2-Ifi205)1Stsn,Trex1tm1Tld/Trex1tm1Tld
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJaeSor * C57BL/6N

 MP:0008260 abnormal autophagy "abnormal catabolic process involving the degradation of a cell s own components through the lysosomal machinery" [MGI:honda "Hiraoki Onda, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Del(1Aim2-Ifi205)1Stsn/Del(1Aim2-Ifi205)1Stsn,Trex1tm1Tld/Trex1tm1Tld
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJaeSor * C57BL/6N

 MP:0009940 abnormal hippocampus pyramidal cell morphology "any structural anomaly of the projection neuron in the pyramidal layer of the hippocampus" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Del(1Aim2-Ifi205)1Stsn/Del(1Aim2-Ifi205)1Stsn,Trex1tm1Tld/Trex1tm1Tld
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJaeSor * C57BL/6N

 MP:0012506 brain atrophy "acquired diminution of the size of the brain associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes" [MGI:anna]
Show

Allelic Composition: Del(1Aim2-Ifi205)1Stsn/Del(1Aim2-Ifi205)1Stsn,Trex1tm1Tld/Trex1tm1Tld
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJaeSor * C57BL/6N

  


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






 

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