ENSMUSG00000043461


Mus musculus

Features
Gene ID: ENSMUSG00000043461
  
Biological name :Sptssb
  
Synonyms : Q925E8 / Serine palmitoyltransferase small subunit B / Sptssb
  
Possible biological names infered from orthology : Q8NFR3
  
Species: Mus musculus
  
Chr. number: 3
Strand: -1
Band: E2
Gene start: 69819542
Gene end: 69859940
  
Corresponding Affymetrix probe sets: 10498653 (MoGene1.0st)   1417802_at (Mouse Genome 430 2.0 Array)   1417803_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000062794
Ensembl peptide - ENSMUSP00000131241
NCBI entrez gene - 66183     See in Manteia.
MGI - MGI:1913433
RefSeq - NM_001286959
RefSeq - NM_001164210
RefSeq - NM_133675
RefSeq Peptide - NP_001157682
RefSeq Peptide - NP_001273888
RefSeq Peptide - NP_598436
swissprot - Q925E8
Ensembl - ENSMUSG00000043461
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 Q1RLT2ENSDARG00000091658Danio rerio
 ENSGALG00000026131Gallus gallus
 SPTSSBENSGALG00000027494Gallus gallus
 Q8NFR3ENSG00000196542Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q8R207 / Sptssa / Serine palmitoyltransferase small subunit A / Q969W0*ENSMUSG0000004440832
Gm6993 / Q969W0* / SPTSSA* / serine palmitoyltransferase small subunit A*ENSMUSG0000011218725


Protein motifs (from Interpro)
Interpro ID Name
 IPR024512  Small subunit of serine palmitoyltransferase-like


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006629 lipid metabolic process IEA
 biological_processGO:0006665 sphingolipid metabolic process IEA
 biological_processGO:0007029 endoplasmic reticulum organization IMP
 biological_processGO:0030148 sphingolipid biosynthetic process IMP
 biological_processGO:0046513 ceramide biosynthetic process IMP
 biological_processGO:1904220 regulation of serine C-palmitoyltransferase activity IMP
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0017059 serine C-palmitoyltransferase complex ISS
 molecular_functionGO:0004758 serine C-palmitoyltransferase activity ISS


Pathways (from Reactome)
Pathway description
Sphingolipid de novo biosynthesis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
Show

Allelic Composition: Adatm1Mw/Adatm1Mw,Adora2btm1Dgen/Adora2btm1Dgen,Tg(Afp-ADA)#Xiay/0
Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd * C3H/HeJ * C57BL/6J

 MP:0001325 abnormal retina morphology "structural or developmental anomaly of the thin layer of neural tissue lining the back of the eyeball which contains visual receptors " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Adatm1Mw/Adatm1Mw,Adora2btm1Dgen/Adora2btm1Dgen,Tg(Afp-ADA)#Xiay/0
Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd * C3H/HeJ * C57BL/6J

 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: Adatm1Mw/Adatm1Mw,Adora2btm1Dgen/Adora2btm1Dgen,Tg(Afp-ADA)#Xiay/0
Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd * C3H/HeJ * C57BL/6J

 MP:0001510 abnormal coat appearance "coat that looks different from the usual state " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Rpgrip1ltm1a(EUCOMM)Wtsi/Rpgrip1ltm1a(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Rpgrip1ltm1a(EUCOMM)Wtsi/Wtsi

 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: Adatm1Mw/Adatm1Mw,Adora2btm1Dgen/Adora2btm1Dgen,Tg(Afp-ADA)#Xiay/0
Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd * C3H/HeJ * C57BL/6J

 MP:0002118 abnormal lipid homeostasis "anomaly in the state of equilibrium in the body with respect to lipids in the fluids and tissues" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Adatm1Mw/Adatm1Mw,Adora2btm1Dgen/Adora2btm1Dgen,Tg(Afp-ADA)#Xiay/0
Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd * C3H/HeJ * C57BL/6J

 MP:0002864 abnormal ocular fundus morphology "malformation of the posterior concave interior of the eye, consisting of the retina, the choroid, the posterior segment of the sclera, the optic disk, and blood vessels, visible by an ophthalmoscope" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Adatm1Mw/Adatm1Mw,Adora2btm1Dgen/Adora2btm1Dgen,Tg(Afp-ADA)#Xiay/0
Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd * C3H/HeJ * C57BL/6J

Allelic Composition: SptssbTvrm122/Sptssb+
Genetic Background: involves: A * C57BL/6

 MP:0003732 abnormal outer plexiform layer morphology "malformation/anomalous structure of the retinal layer that is the site of synapses between the rods and cones (axons) and the horizontal and bipolar cells (dendrites)" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: Adatm1Mw/Adatm1Mw,Adora2btm1Dgen/Adora2btm1Dgen,Tg(Afp-ADA)#Xiay/0
Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd * C3H/HeJ * C57BL/6J

 MP:0003734 abnormal inner plexiform layer morphology "malformation/anomalous structure of the retinal cell layer where bipolar and amacrine cell axons synapse with ganglion cell dendrites " [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: Adatm1Mw/Adatm1Mw,Adora2btm1Dgen/Adora2btm1Dgen,Tg(Afp-ADA)#Xiay/0
Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd * C3H/HeJ * C57BL/6J

 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: Adatm1Mw/Adatm1Mw,Adora2btm1Dgen/Adora2btm1Dgen,Tg(Afp-ADA)#Xiay/0
Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd * C3H/HeJ * C57BL/6J

 MP:0005560 decreased circulating glucose level "less than the normal concentration in the blood of this major monosaccharide of the body; it is an important energy source" [RGD:Rat Genome Database submission, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Rpgrip1ltm1a(EUCOMM)Wtsi/Rpgrip1ltm1a(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Rpgrip1ltm1a(EUCOMM)Wtsi/Wtsi

 MP:0006219 optic nerve degeneration "retrogressive pathologic change of the optic nerve" [ncbi:Matthew Mailman, NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Adatm1Mw/Adatm1Mw,Adora2btm1Dgen/Adora2btm1Dgen,Tg(Afp-ADA)#Xiay/0
Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd * C3H/HeJ * C57BL/6J

 MP:0008025 brain vacuoles "the abnormal presence of cavities or fluid-filled vesicles in the soma of brain cells, often indicative of spongiosis or other pathological states" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Adatm1Mw/Adatm1Mw,Adora2btm1Dgen/Adora2btm1Dgen,Tg(Afp-ADA)#Xiay/0
Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd * C3H/HeJ * C57BL/6J

Allelic Composition: SptssbTvrm122/Sptssb+
Genetic Background: involves: A * C57BL/6

 MP:0009978 abnormal cerebellum white matter morphology 
Show

Allelic Composition: Adatm1Mw/Adatm1Mw,Adora2btm1Dgen/Adora2btm1Dgen,Tg(Afp-ADA)#Xiay/0
Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd * C3H/HeJ * C57BL/6J

 MP:0011471 decreased urine creatinine level "a reduced amount of creatinine in the urine compared to the normal state" [MGI:csmith]
Show

Allelic Composition: Rpgrip1ltm1a(EUCOMM)Wtsi/Rpgrip1ltm1a(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Rpgrip1ltm1a(EUCOMM)Wtsi/Wtsi

 MP:0013278 decreased fasted circulating glucose level "reduction in the amount of glucose in the blood at some defined time point after eating compared to controls" [MGI:Armida_Di_Fenza]
Show

Allelic Composition: Rpgrip1ltm1a(EUCOMM)Wtsi/Rpgrip1ltm1a(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Rpgrip1ltm1a(EUCOMM)Wtsi/Wtsi

 MP:0013279 increased fasted circulating glucose level "increase in the amount of glucose in the blood at some defined time point after eating compared to controls" [MGI:Armida_Di_Fenza]
Show

Allelic Composition: Rpgrip1ltm1a(EUCOMM)Wtsi/Rpgrip1ltm1a(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Rpgrip1ltm1a(EUCOMM)Wtsi/Wtsi

 MP:0020353 abnormal endoplasmic reticulum stress "any anomaly in the accumulation of misfolded or unfolded proteins in the endoplasmic reticulum lumen; this accumulation maybe stimulated by genetic or enviromental factors" [ORCID: orcid.org/0000-0003-4606-0597, PMID:21266244]
Show

Allelic Composition: Adatm1Mw/Adatm1Mw,Adora2btm1Dgen/Adora2btm1Dgen,Tg(Afp-ADA)#Xiay/0
Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd * C3H/HeJ * C57BL/6J

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000021468 O35704 / Sptlc1 / Serine palmitoyltransferase 1 / O15269* / serine palmitoyltransferase long chain base subunit 1*  / complex
 ENSMUSG00000021036 P97363 / Sptlc2 / serine palmitoyltransferase, long chain base subunit 2 / O15270*  / complex
 ENSMUSG00000039092 Q8BG54 / Sptlc3 / Mus musculus serine palmitoyltransferase, long chain base subunit 3 (Sptlc3), transcript variant 1, mRNA. / Q9NUV7* / serine palmitoyltransferase long chain base subunit 3*  / complex






 

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