ENSMUSG00000022519


Mus musculus

Features
Gene ID: ENSMUSG00000022519
  
Biological name :Srl
  
Synonyms : Q7TQ48 / Sarcalumenin / Srl
  
Possible biological names infered from orthology : Q86TD4
  
Species: Mus musculus
  
Chr. number: 16
Strand: -1
Band: A1
Gene start: 4480216
Gene end: 4541816
  
Corresponding Affymetrix probe sets: 10437376 (MoGene1.0st)   1436867_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000023161
Ensembl peptide - ENSMUSP00000087986
NCBI entrez gene - 106393     See in Manteia.
MGI - MGI:2146620
RefSeq - XM_017316847
RefSeq - NM_175347
RefSeq - XM_017316844
RefSeq - XM_017316845
RefSeq - XM_017316846
RefSeq - XM_006521687
RefSeq - XM_006521688
RefSeq Peptide - NP_780556
RefSeq Peptide - NP_001334091
swissprot - Q7TQ48
Ensembl - ENSMUSG00000022519
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 CABZ01072309.1ENSDARG00000112959Danio rerio
 srlENSDARG00000104587Danio rerio
 SRLENSGALG00000038884Gallus gallus
 SRLENSG00000185739Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Ehd1 / Q9WVK4 / EH domain-containing protein 1 / Q9H4M9* / EH domain containing 1*ENSMUSG0000002477215
Ehd3 / Q9QXY6 / EH domain-containing protein 3 / Q9NZN3* / EH domain containing 3*ENSMUSG0000002406515
Ehd2 / Q8BH64 / EH domain-containing protein 2 / Q9NZN4* / EH domain containing 2*ENSMUSG0000007436415
Ehd4 / Q9EQP2 / EH domain-containing protein 4 / Q9H223* / EH domain containing 4*ENSMUSG0000002729314
Q60902 / Eps15l1 / Epidermal growth factor receptor substrate 15-like 1 / Q9UBC2* / epidermal growth factor receptor pathway substrate 15 like 1*ENSMUSG000000062767
Eps15 / P42567 / Epidermal growth factor receptor substrate 15 / P42566* / epidermal growth factor receptor pathway substrate 15*ENSMUSG000000285527
Itsn1 / Q9Z0R4 / Intersectin-1 / Q15811*ENSMUSG000000229576
Itsn2 / intersectin 2 / Q9NZM3*ENSMUSG000000206406
Reps2 / RALBP1 associated Eps domain containing protein 2 / Q8NFH8* / RALBP1 associated Eps domain containing 2*ENSMUSG000000408555
Reps1 / O54916 / RalBP1-associated Eps domain-containing protein 1 / Q96D71* / RALBP1 associated Eps domain containing 1*ENSMUSG000000198545


Protein motifs (from Interpro)
Interpro ID Name
 IPR022812  Dynamin superfamily
 IPR027417  P-loop containing nucleoside triphosphate hydrolase
 IPR030381  Dynamin-type guanine nucleotide-binding (G) domain
 IPR031692  EH domain-containing protein, N-terminal


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002115 store-operated calcium entry IMP
 biological_processGO:0014873 response to muscle activity involved in regulation of muscle adaptation IMP
 cellular_componentGO:0016529 sarcoplasmic reticulum IEA
 cellular_componentGO:0033018 sarcoplasmic reticulum lumen IEA
 molecular_functionGO:0005525 GTP binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0001544 abnormal cardiovascular system physiology "anomalous function of the blood, blood vessels, and/or the heart" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Thratm3Ven/Thra+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6NCrl

 MP:0002106 abnormal muscle physiology "anomolous function of the muscle, not due to an anatomical defect" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Thratm3Ven/Thratm3Ven
Genetic Background: involves: 129P2/OlaHsd * C57BL/6NCrl

 MP:0002841 impaired skeletal muscle contractility "inability or reduced ability of the skeletal muscle to shorten or to develop increased tension" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
Show

Allelic Composition: Thratm3Ven/Thra+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6NCrl

 MP:0004084 abnormal cardiac muscle relaxation "altered ability of the cardiac/heart muscle to lengthen following contractions, often measured by dP/dt min" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: Thratm3Ven/Thra+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6NCrl

 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]
Show

Allelic Composition: Thratm3Ven/Thra+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6NCrl

 MP:0005140 decreased cardiac muscle contractility "inability or reduced ability of the heart muscle to shorten or to develop increased tension" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Thratm3Ven/Thra+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6NCrl

 MP:0005620 abnormal muscle contractility "aberrant ability of a muscle to shorten or to develop increased tension" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Thratm3Ven/Thra+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6NCrl

  


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






 

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