ENSMUSG00000024260


Mus musculus

Features
Gene ID: ENSMUSG00000024260
  
Biological name :Sap130
  
Synonyms : Mus musculus Sin3A associated protein (Sap130), transcript variant 2, mRNA. / Sap130
  
Possible biological names infered from orthology : Q9H0E3 / Sin3A associated protein 130
  
Species: Mus musculus
  
Chr. number: 18
Strand: 1
Band: B1
Gene start: 31634371
Gene end: 31723061
  
Corresponding Affymetrix probe sets: 10454447 (MoGene1.0st)   1428857_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000025109
Ensembl peptide - ENSMUSP00000136842
NCBI entrez gene - 269003     See in Manteia.
MGI - MGI:1919782
RefSeq - XM_017317912
RefSeq - XM_006525951
RefSeq - XM_006525952
RefSeq - XM_006525953
RefSeq - XM_006525954
RefSeq - NM_001357554
RefSeq - NM_172965
RefSeq - XM_006525949
RefSeq - XM_006525950
RefSeq Peptide - NP_766553
RefSeq Peptide - NP_001344483
swissprot - J3QNK5
swissprot - A0A0R4J060
Ensembl - ENSMUSG00000024260
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 sap130aENSDARG00000056924Danio rerio
 sap130bENSDARG00000079352Danio rerio
 SAP130ENSGALG00000002070Gallus gallus
 Q9H0E3ENSG00000136715Homo sapiens


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR024137  Histone deacetylase complex subunit SAP130
 IPR031963  Histone deacetylase complex subunit SAP130, C-terminal domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 cellular_componentGO:0016607 nuclear speck IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000221 decreased WBC count "fewer than normal numbers of WBCs" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Rpgrip1ltm1a(EUCOMM)Wtsi/Rpgrip1l+
Genetic Background: C57BL/6N-Rpgrip1ltm1a(EUCOMM)Wtsi/Wtsi

 MP:0000284 double outlet right ventricle "both the aorta and the pulmonary trunk originate from the right ventricle, usually in conjunction with a ventricular septal defect" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:67826]
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Allelic Composition: Tet1tuft/Tet1tuft
Genetic Background: involves: 3H1/Lznf * M. m. castaneus

 MP:0000286 abnormal mitral valve morphology "malformation of the valve between the left atrium and the left ventricle of the heart" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:53370]
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Allelic Composition: Pcdha9b2b635.1Clo/Pcdha9b2b635.1Clo,Sap130b2b635.2Clo/Sap130+
Genetic Background: C57BL/6J-Sap130b2b635.2Clo Pcdha9b2b635.1Clo

Allelic Composition: Pcdha9em1Clo/Pcdha9em1Clo,Sap130em1Clo/Sap130em1Clo
Genetic Background: C57BL/6J-Sap130em1Clo Pcdha9em1Clo/MurrJ

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Skor2Tn(sb-Tyr)1799B.CA3Ove/Skor2Tn(sb-Tyr)1799B.CA3Ove
Genetic Background: involves: FVB/N

 MP:0003393 decreased cardiac output "reduction in the blood volume pumped by each ventricle per minute" [ncbi:Matthew Mailman, NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Pcdha9em1Clo/Pcdha9em1Clo,Sap130em1Clo/Sap130em1Clo
Genetic Background: C57BL/6J-Sap130em1Clo Pcdha9em1Clo/MurrJ

 MP:0005012 decreased eosinophil count "fewer than normal eosinophil numbers " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Rpgrip1ltm1a(EUCOMM)Wtsi/Rpgrip1l+
Genetic Background: C57BL/6N-Rpgrip1ltm1a(EUCOMM)Wtsi/Wtsi

 MP:0005017 decreased B cell number "fewer than normal B cell numbers" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Rpgrip1ltm1a(EUCOMM)Wtsi/Rpgrip1l+
Genetic Background: C57BL/6N-Rpgrip1ltm1a(EUCOMM)Wtsi/Wtsi

 MP:0005018 decreased T cell number "fewer than normal T cell numbers" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Rpgrip1ltm1a(EUCOMM)Wtsi/Rpgrip1l+
Genetic Background: C57BL/6N-Rpgrip1ltm1a(EUCOMM)Wtsi/Wtsi

 MP:0008045 decreased NK cell number "reduction in the number of non-T, non-B lymphocytes, having a granular morphology and which are important in innate immunity to viruses and other intracellular pathogens; in addition, these cells can kill certain tumor cells" [ISBN:0-8153-1691-7 "Immunobiology, The Immune System in Health and Disease"]
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Allelic Composition: Rpgrip1ltm1a(EUCOMM)Wtsi/Rpgrip1l+
Genetic Background: C57BL/6N-Rpgrip1ltm1a(EUCOMM)Wtsi/Wtsi

 MP:0008075 decreased CD4-positive T cell number "reduced number of the subset of T lymphocytes that carry the CD4 marker, recognize intravesicular peptides bound to MHC class-II molecules, and turn on antibody production" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Rpgrip1ltm1a(EUCOMM)Wtsi/Rpgrip1l+
Genetic Background: C57BL/6N-Rpgrip1ltm1a(EUCOMM)Wtsi/Wtsi

 MP:0008079 decreased CD8-positive T cell number "reduction in the number of the regulatory subset of T lymphocytes that are involved in MHC class I restricted interactions" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Rpgrip1ltm1a(EUCOMM)Wtsi/Rpgrip1l+
Genetic Background: C57BL/6N-Rpgrip1ltm1a(EUCOMM)Wtsi/Wtsi

 MP:0008211 decreased mature B cell number "reduced number of the mature form of B cells, a type of lymphocyte whose defining characteristic is the expression of an immunoglobulin complex" [CL:0000785, ISBN:0781735149]
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Allelic Composition: Rpgrip1ltm1a(EUCOMM)Wtsi/Rpgrip1l+
Genetic Background: C57BL/6N-Rpgrip1ltm1a(EUCOMM)Wtsi/Wtsi

 MP:0010168 increased CD4-positive, CD25-positive, alpha-beta regulatory T cell number "a greater number of the CD4-positive, CD25-positive T cell subset which regulates overall immune responses as well as the responses of other T cell subsets through direct cell-cell contact and cytokine release" [ISBN:0781735149]
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Allelic Composition: Rpgrip1ltm1a(EUCOMM)Wtsi/Rpgrip1l+
Genetic Background: C57BL/6N-Rpgrip1ltm1a(EUCOMM)Wtsi/Wtsi

 MP:0010446 heart left ventricle hypoplasia "underdevelopment or reduced size of the heart left ventricle, often due to a reduced number of cells" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Pcdha9b2b635.1Clo/Pcdha9b2b635.1Clo,Sap130b2b635.2Clo/Sap130+
Genetic Background: C57BL/6J-Sap130b2b635.2Clo Pcdha9b2b635.1Clo

Allelic Composition: Sap130b2b635.2Clo/Sap130b2b635.2Clo
Genetic Background: C57BL/6J-Sap130b2b635.2Clo

 MP:0010463 aorta stenosis "diffuse constriction or narrowing of the aorta" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Pcdha9b2b635.1Clo/Pcdha9b2b635.1Clo,Sap130b2b635.2Clo/Sap130+
Genetic Background: C57BL/6J-Sap130b2b635.2Clo Pcdha9b2b635.1Clo

Allelic Composition: Sap130b2b635.2Clo/Sap130b2b635.2Clo
Genetic Background: C57BL/6J-Sap130b2b635.2Clo Pcdha9b2b635.1Clo

 MP:0010541 aorta hypoplasia "underdevelopment or reduced size of the main trunk of the systemic arterial system that originates from the base of the left ventricle of the heart and extends to the abdomen at the point where it branches into the common iliac arteries, usually due to reduced cell number" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Pcdha9em1Clo/Pcdha9em1Clo,Sap130em1Clo/Sap130em1Clo
Genetic Background: C57BL/6J-Sap130em1Clo Pcdha9em1Clo/MurrJ

 MP:0010580 decreased heart left ventricle size "less than average size of the left ventricle compared to the average for a particular population" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Pcdha9em1Clo/Pcdha9em1Clo,Sap130em1Clo/Sap130em1Clo
Genetic Background: C57BL/6J-Sap130em1Clo Pcdha9em1Clo/MurrJ

 MP:0011093 complete embryonic lethality at implantation "death of all organisms of a given genotype in a population at the point of implantation (Mus: E4.5)" [MGI:csmith]
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Allelic Composition: Lmnatm2.1Gbon/Lmna+
Genetic Background: involves: 129 * C57BL/6

Allelic Composition: Sap130b2b635.2Clo/Sap130tm1a(KOMP)Mbp
Genetic Background: involves: C57BL/6J * C57BL/6N

 MP:0011100 complete preweaning lethality "death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]
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Allelic Composition: Ralatm1a(EUCOMM)Wtsi/Ralatm1a(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Ralatm1a(EUCOMM)Wtsi/Wtsi

 MP:0012765 decreased alpha-beta T cell number "reduced number of T cells that expresses an alpha-beta T cell receptor complex" [CL:0000789]
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Allelic Composition: Rpgrip1ltm1a(EUCOMM)Wtsi/Rpgrip1l+
Genetic Background: C57BL/6N-Rpgrip1ltm1a(EUCOMM)Wtsi/Wtsi

 MP:0013023 decreased Ly6C high monocyte number "decrease in the number of monocytes that express high levels of Ly6C and low MHC class II that represent a subset of circulating inflammatory monocytes that are recruited to infected or inflamed tissues" [MGI:Annie_Speak]
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Allelic Composition: Rpgrip1ltm1a(EUCOMM)Wtsi/Rpgrip1l+
Genetic Background: C57BL/6N-Rpgrip1ltm1a(EUCOMM)Wtsi/Wtsi

 MP:0013025 increased Ly6C low monocyte number "increase in the number of monocytes that express low levels of Ly6C and low MHC class II that represent a subset of patrolling monocytes" [MGI:Annie_Speak]
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Allelic Composition: Rpgrip1ltm1a(EUCOMM)Wtsi/Rpgrip1l+
Genetic Background: C57BL/6N-Rpgrip1ltm1a(EUCOMM)Wtsi/Wtsi

  


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






 

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