Manteia

ENSMUSG00000036580

Mus musculus

Features

Gene ID:	ENSMUSG00000036580

Biological name :	Spg20

Synonyms :	Q8R1X6 / spastic paraplegia 20, spartin (Troyer syndrome) homolog (human) / Spg20

Possible biological names infered from orthology :	Q8N0X7 / SPART / spartin

Species:	Mus musculus

Chr. number:	3
Strand:	1
Band:	C
Gene start:	55112108
Gene end:	55137322

Corresponding Affymetrix probe sets:	10492102 (MoGene1.0st) 1424875_at (Mouse Genome 430 2.0 Array) 1424876_s_at (Mouse Genome 430 2.0 Array) 1451520_at (Mouse Genome 430 2.0 Array)

Cross references:	Ensembl peptide - ENSMUSP00000119719 Ensembl peptide - ENSMUSP00000113621 Ensembl peptide - ENSMUSP00000121683 Ensembl peptide - ENSMUSP00000113968 Ensembl peptide - ENSMUSP00000042367 Ensembl peptide - ENSMUSP00000103605 NCBI entrez gene - 229285 See in Manteia. MGI - MGI:2139806 RefSeq - NM_001144988 RefSeq - XM_006501320 RefSeq - NM_144895 RefSeq - NM_001144987 RefSeq Peptide - NP_001138459 RefSeq Peptide - NP_001138460 RefSeq Peptide - NP_659144 swissprot - Q8R1X6 swissprot - D3Z2D6 swissprot - Q3TVW1 swissprot - D3Z1M5 swissprot - D3Z3F8 Ensembl - ENSMUSG00000036580

See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed

Ortholog prediction (from Ensembl)

Ortholog name	ID	Species
sparta	ENSDARG00000068782	Danio rerio
spartb	ENSDARG00000103457	Danio rerio
SPART	ENSGALG00000017053	Gallus gallus
SPART	ENSG00000133104	Homo sapiens

Paralog prediction (from Ensembl)

Paralog name

Similarity(%)

No match

Protein motifs (from Interpro)

Interpro ID	Name
IPR007330	MIT
IPR009686	Senescence/spartin-associated
IPR036181	MIT domain superfamily

Gene Ontology (GO)

Type	GO ID	Term	Ev.Code
biological_process	GO:0009838	abscission	IEA
biological_process	GO:0030514	negative regulation of BMP signaling pathway	IMP
biological_process	GO:0034389	lipid particle organization	IMP
biological_process	GO:0048698	negative regulation of collateral sprouting in absence of injury	IMP
biological_process	GO:0050905	neuromuscular process	IMP
biological_process	GO:0051301	cell division	IEA
biological_process	GO:0051881	regulation of mitochondrial membrane potential	IEA
biological_process	GO:0060612	adipose tissue development	IMP
cellular_component	GO:0005737	cytoplasm	IEA
cellular_component	GO:0005741	mitochondrial outer membrane	IEA
cellular_component	GO:0005811	lipid droplet	IDA
cellular_component	GO:0005829	cytosol	IEA
cellular_component	GO:0005886	plasma membrane	IEA
cellular_component	GO:0030496	midbody	IEA
cellular_component	GO:0045202	synapse	IDA
molecular_function	GO:0005515	protein binding	IPI
molecular_function	GO:0031625	ubiquitin protein ligase binding	IEA

Pathways (from Reactome)

Pathway description

No match

Phenotype (from MGI, Zfin or HPO)

ID	Phenotype	Definition	Genetic BG
MP:0000003	abnormal adipose tissue morphology	"structural anomaly of the connective tissue composed of fat cells enmeshed in areolar tissue" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Pip5k1a^tm1.1Tba/Pip5k1a^tm1.1Tba,Pip5k1b^tm1Tssk/Pip5k1b^tm1Tssk Genetic Background: involves: 129P2/OlaHsd
MP:0000166	abnormal chondrocyte morphology	"anomalous structure, organization, or differentiation of nondividing cartilage cells" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:40203]	Show Allelic Composition: Pip5k1a^tm1.1Tba/Pip5k1a^tm1.1Tba,Pip5k1b^tm1Tssk/Pip5k1b^tm1Tssk Genetic Background: involves: 129P2/OlaHsd
MP:0000358	abnormal cell content/ morphology	"structural anomalies of the minute protoplasmic masses that make up organized tissues and which are the fundamental structural and functional units of living organisms" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Pip5k1a^tm1.1Tba/Pip5k1a^tm1.1Tba,Pip5k1b^tm1Tssk/Pip5k1b^tm1Tssk Genetic Background: involves: 129P2/OlaHsd
MP:0000754	partial paralysis	"partial loss of power of voluntary movement in a muscle through injury or disease of it or its nerve supply" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]	Show Allelic Composition: Pip5k1a^tm1.1Tba/Pip5k1a^tm1.1Tba,Pip5k1b^tm1Tssk/Pip5k1b^tm1Tssk Genetic Background: involves: 129P2/OlaHsd
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: Pip5k1a^tm1.1Tba/Pip5k1a^tm1.1Tba,Pip5k1b^tm1Tssk/Pip5k1b^tm1Tssk Genetic Background: involves: 129P2/OlaHsd
MP:0001406	abnormal gait	"unusual or distinctive way of walking" [J:65038]	Show Allelic Composition: Pip5k1a^tm1.1Tba/Pip5k1a^tm1.1Tba,Pip5k1b^tm1Tssk/Pip5k1b^tm1Tssk Genetic Background: involves: 129P2/OlaHsd
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: Pip5k1a^tm1.1Tba/Pip5k1a^tm1.1Tba,Pip5k1b^tm1Tssk/Pip5k1b^tm1Tssk Genetic Background: involves: 129P2/OlaHsd
MP:0002020	increased tumor incidence	"greater than average number of tumors, usually a specific type" [MGI:cls, J:34193]	Show Allelic Composition: Pip5k1a^tm1.1Tba/Pip5k1a^tm1.1Tba,Pip5k1b^tm1Tssk/Pip5k1b^tm1Tssk Genetic Background: involves: 129P2/OlaHsd
MP:0002066	abnormal motor capabilities/coordination/movement	"altered ability to coordinate voluntary movement or repetitive, compulsive movements" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Pip5k1a^tm1.1Tba/Pip5k1a^tm1.1Tba,Pip5k1b^tm1Tssk/Pip5k1b^tm1Tssk Genetic Background: involves: 129P2/OlaHsd
MP:0002644	decreased circulating triglyceride level	"lower than normal concentration of triacylglycerols in the blood" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]	Show Allelic Composition: Pip5k1a^tm1.1Tba/Pip5k1a^tm1.1Tba,Pip5k1b^tm1Tssk/Pip5k1b^tm1Tssk Genetic Background: involves: 129P2/OlaHsd
MP:0003091	abnormal cell migration	"defect in the movement of cells during developmental processes" [smb:Susan M. Bello, Mouse Genome Informatics Curator]	Show Allelic Composition: Pip5k1a^tm1.1Tba/Pip5k1a^tm1.1Tba,Pip5k1b^tm1Tssk/Pip5k1b^tm1Tssk Genetic Background: involves: 129P2/OlaHsd
MP:0003707	increased nucleus count	"greater than one nuclei present per cell body when one is expected; often due to failed cytokinesis" [pg:Philip Groth submission]	Show Allelic Composition: Pip5k1a^tm1.1Tba/Pip5k1a^tm1.1Tba,Pip5k1b^tm1Tssk/Pip5k1b^tm1Tssk Genetic Background: involves: 129P2/OlaHsd
MP:0004046	abnormal mitosis	"anomaly in the process of cell division including both division of the nucleus (karyokinesis) and the cytoplasm (cytokinesis) " [smb:Susan M Bello, Mouse Genome Informatics Curator]	Show Allelic Composition: Pip5k1a^tm1.1Tba/Pip5k1a^tm1.1Tba,Pip5k1b^tm1Tssk/Pip5k1b^tm1Tssk Genetic Background: involves: 129P2/OlaHsd
MP:0005404	abnormal axon morphology	"anomaly in the structure of the single process of a nerve cell that normally conducts impulses away from the cell body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Pip5k1a^tm1.1Tba/Pip5k1a^tm1.1Tba,Pip5k1b^tm1Tssk/Pip5k1b^tm1Tssk Genetic Background: involves: 129P2/OlaHsd
MP:0008143	abnormal dendrite morphology	"any structural anomaly of the highly branched tree-like process of a neuron that serves as a receptive field and conducts impulses toward the cell body" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", MGI:rbabiuk "Randall Babiuk, Mouse Genome Informatics Curator"]	Show Allelic Composition: Pip5k1a^tm1.1Tba/Pip5k1a^tm1.1Tba,Pip5k1b^tm1Tssk/Pip5k1b^tm1Tssk Genetic Background: involves: 129P2/OlaHsd
MP:0008821	increased blood uric acid level	"greater concentration in the blood of the final oxidation product of purine catabolism in humans and primates, but which in rodents and most other mammals is normally is further oxidized by uricase to allantoin that is excreted in the urine" [MESH:D03.132.960.877, MGI:brs "Beverly Richards-Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Pip5k1a^tm1.1Tba/Pip5k1a^tm1.1Tba,Pip5k1b^tm1Tssk/Pip5k1b^tm1Tssk Genetic Background: involves: 129P2/OlaHsd
MP:0009115	abnormal fat cell morphology	"any structural anomaly of a fat-storing cell found mostly in the abdominal cavity and subcutaneous tissue of mammals" [CL:0000449]	Show Allelic Composition: Pip5k1a^tm1.1Tba/Pip5k1a^tm1.1Tba,Pip5k1b^tm1Tssk/Pip5k1b^tm1Tssk Genetic Background: involves: 129P2/OlaHsd
MP:0009269	decreased fat cell size	"reduction in the size of fat-storing cells found mostly in the abdominal cavity and subcutaneous tissue of mammals" [CL:0000449]	Show Allelic Composition: Pip5k1a^tm1.1Tba/Pip5k1a^tm1.1Tba,Pip5k1b^tm1Tssk/Pip5k1b^tm1Tssk Genetic Background: involves: 129P2/OlaHsd
MP:0009434	paraparesis	"a weakness affecting lower limbs" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]	Show Allelic Composition: Pip5k1a^tm1.1Tba/Pip5k1a^tm1.1Tba,Pip5k1b^tm1Tssk/Pip5k1b^tm1Tssk Genetic Background: involves: 129P2/OlaHsd
MP:0010024	increased total body fat amount	"greater than the normal total amount of connective tissue composed of fat cells within the entire body" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Pip5k1a^tm1.1Tba/Pip5k1a^tm1.1Tba,Pip5k1b^tm1Tssk/Pip5k1b^tm1Tssk Genetic Background: involves: 129P2/OlaHsd
MP:0010574	aorta dilation	"the luminal space of the aorta is increased in volume or area, usually with an increase of contained fluid" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Spata22^{tm1b(KOMP)Wtsi}/Spata22^{tm1b(KOMP)Wtsi} Genetic Background: C57BL/6N-Spata22^{tm1b(KOMP)Wtsi}/Ucd

Interacting proteins (from Reactome)

Interactor ID

Name

Interaction type

No match

0 s.

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		© Olivier Tassy / Olivier Pourquie 2007-2024 contact: otassy@igbmc.fr