ENSMUSG00000032481


Mus musculus

Features
Gene ID: ENSMUSG00000032481
  
Biological name :Smarcc1
  
Synonyms : P97496 / Smarcc1 / SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1
  
Possible biological names infered from orthology : Q92922
  
Species: Mus musculus
  
Chr. number: 9
Strand: 1
Band: F2
Gene start: 110117708
Gene end: 110240178
  
Corresponding Affymetrix probe sets: 10589466 (MoGene1.0st)   1423416_at (Mouse Genome 430 2.0 Array)   1423417_at (Mouse Genome 430 2.0 Array)   1455246_at (Mouse Genome 430 2.0 Array)   1459824_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000143199
Ensembl peptide - ENSMUSP00000143550
Ensembl peptide - ENSMUSP00000086094
Ensembl peptide - ENSMUSP00000095958
Ensembl peptide - ENSMUSP00000142611
Ensembl peptide - ENSMUSP00000142629
NCBI entrez gene - 20588     See in Manteia.
MGI - MGI:1203524
RefSeq - NM_009211
RefSeq Peptide - NP_033237
swissprot - Q3UNN4
swissprot - A0A0G2JFJ8
swissprot - Q3UZD0
swissprot - F6SKR9
swissprot - P97496
Ensembl - ENSMUSG00000032481
  

This gene has been taged as a transcription factor by TFT
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 smarcc1aENSDARG00000017397Danio rerio
 smarcc1bENSDARG00000098919Danio rerio
 SMARCC1ENSGALG00000032642Gallus gallus
 Q92922ENSG00000173473Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q6PDG5 / Smarcc2 / SWI/SNF complex subunit SMARCC2 / Q8TAQ2* / SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2*ENSMUSG0000002536962


Protein motifs (from Interpro)
Interpro ID Name
 IPR000953  Chromo/chromo shadow domain
 IPR001005  SANT/Myb domain
 IPR007526  SWIRM domain
 IPR009057  Homeobox-like domain superfamily
 IPR017884  SANT domain
 IPR030087  SWI/SNF complex subunit SMARCC1
 IPR032448  SMARCC, SWIRM-associated domain
 IPR032450  SMARCC, N-terminal
 IPR032451  SMARCC, C-terminal
 IPR036388  Winged helix-like DNA-binding domain superfamily
 IPR036420  BRCT domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006323 DNA packaging TAS
 biological_processGO:0006325 chromatin organization IEA
 biological_processGO:0006337 nucleosome disassembly ISO
 biological_processGO:0006338 chromatin remodeling ISO
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0007399 nervous system development IEA
 biological_processGO:0008286 insulin receptor signaling pathway IDA
 biological_processGO:0009887 animal organ morphogenesis IMP
 biological_processGO:0030850 prostate gland development IEA
 biological_processGO:0032435 negative regulation of proteasomal ubiquitin-dependent protein catabolic process IMP
 biological_processGO:0043044 ATP-dependent chromatin remodeling IEA
 biological_processGO:0045893 positive regulation of transcription, DNA-templated ISO
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IGI
 cellular_componentGO:0001741 XY body IDA
 cellular_componentGO:0005622 intracellular IDA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm ISO
 cellular_componentGO:0005737 cytoplasm ISS
 cellular_componentGO:0016514 SWI/SNF complex IEA
 cellular_componentGO:0071564 npBAF complex IDA
 cellular_componentGO:0071565 nBAF complex IDA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003682 chromatin binding IDA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0047485 protein N-terminus binding ISO


Pathways (from Reactome)
Pathway description
RMTs methylate histone arginines
RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000783 abnormal forebrain morphology "malformed or absent anterior primitive cerebral vesicle; most rostral of three primary vesicles of the embryonic neural tube" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:38857]
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Allelic Composition: Cited1tm1Dunw/Cited1+
Genetic Background: B6.129P2-Cited1tm1Dunw

 MP:0000786 abnormal neuroepithelial layer differentiation "malformation or arrest of differentiation or patterning of the epithelial layer of the brain" [J:45302]
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Allelic Composition: Cited1tm1Dunw/Cited1+
Genetic Background: B6.129P2-Cited1tm1Dunw

 MP:0000787 abnormal telencephalon morphology "any malformation or absence of the paired anteriolateral division of the prosencephalon plus the lamina terminalis from which the olfactory lobes, cerebral cortex, and subcortical nuclei are derived " [MeSH:National Library of Medicine - Medical Subject Headings , 2003, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Cited1tm1Dunw/Cited1+
Genetic Background: B6.129P2-Cited1tm1Dunw

 MP:0000823 abnormal lateral ventricle morphology "malformation or absence of cavity in each of the cerebral hemispheres derived from the cavity of the embryonic neural tube; they are separated from each other by the septum pellucidum, and each communicates with the third ventricle by the foramen of Monro, through which also the choroid plexuses of the lateral ventricles become continuous with that of the third ventricle" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Cited1tm1Dunw/Cited1+
Genetic Background: B6.129P2-Cited1tm1Dunw

 MP:0000826 abnormal third ventricle morphology "malformation or absence of the narrow cleft inferior to the corpus callosum, within the diencephalon, between the paired thalami; its floor is formed by the hypothalamus, its anterior wall by the lamina terminalis, and its roof by ependyma; it communicates with the fourth ventricle by the cerebral aqueduct, and with the lateral ventricles by the interventricular foramina" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Cited1tm1Dunw/Cited1+
Genetic Background: B6.129P2-Cited1tm1Dunw

 MP:0000830 abnormal diencephalon morphology "any malformation or absence of the paired caudal parts of the prosencephalon from which the thalamus, hypothalamus, epithalamus and subthalamus are derived; these regions regulate autonomic, visceral and endocrine function, and process information directed to the cerebral cortex" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Cited1tm1Dunw/Cited1+
Genetic Background: B6.129P2-Cited1tm1Dunw

 MP:0000914 exencephaly "neurocranial defects resulting in exposure or extrusion of the brain" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]
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Allelic Composition: Cited1tm1Dunw/Cited1+
Genetic Background: B6.129P2-Cited1tm1Dunw

 MP:0000929 open neural tube "incomplete invagination and fusion of the neuroepithelial layer in early development" [MGI:CLS, J:53370, J:62571]
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Allelic Composition: Traf4m1Pav/Traf4m1Pav,Sox10tm1Weg/Sox10+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BALB/cJ * C57BL/6J

 MP:0001694 failure to form egg cylinders "inability of inner cell mass cells to grow towards the abembryonic pole to form a cylinder-like structure" [The Atlas of Mouse Development , Revised edition:ISBN 0-12-402035-6, MGI:cls, J:34458]
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Allelic Composition: Cited1tm1Dunw/Cited1+
Genetic Background: B6.129P2-Cited1tm1Dunw

 MP:0001802 arrested B cell development "inability to produce mature B cells, and accumulation of B cell precursors" [J:52607]
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Allelic Composition: Sox9tm1Gsr/Sox9tm1Gsr,Tg(Col2a1/Acan-rtTA,tetO-cre)#Vlf/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0002085 abnormal embryonic tissue morphology "structural abnormality or development of any embryonic tissue resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Cited1tm1Dunw/Cited1+
Genetic Background: B6.129P2-Cited1tm1Dunw

 MP:0002398 abnormal bone marrow cell morphology/development "anomalous structure or formation of the cells found in the bone marrow" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Sox9tm1Gsr/Sox9tm1Gsr,Tg(Col2a1/Acan-rtTA,tetO-cre)#Vlf/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0002403 abnormal pre-B cell "anomalous structure, development, or number of the cells in the B lymphocyte lineage that have undergone VDJ rearrangement of the immunoglobulin heavy chain and are in the process of V-J rearrangement of the light chain: these cells express mu heavy chain on the cell surface" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7]
Show

Allelic Composition: Sox9tm1Gsr/Sox9tm1Gsr,Tg(Col2a1/Acan-rtTA,tetO-cre)#Vlf/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0002718 abnormal inner cell mass "malformed or absent cells of the blastocyst that develop into the body of the embryo" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Cited1tm1Dunw/Cited1+
Genetic Background: B6.129P2-Cited1tm1Dunw

 MP:0004838 abnormal neural fold elevation formation "any anomaly in the process by which the lateral borders of the neural plate begin to migrate upwards to form the neural folds, caused by the proliferation of the underlying mesoderm" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Cited1tm1Dunw/Cited1+
Genetic Background: B6.129P2-Cited1tm1Dunw

 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: Sox9tm1Gsr/Sox9tm1Gsr,Tg(Col2a1/Acan-rtTA,tetO-cre)#Vlf/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0005019 abnormal early pro-B cell "anomalous structure, development, or number of cells in the B lymphocyte lineage that undergo D-J rearrangement of the immunoglobulin heavy chain" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7]
Show

Allelic Composition: Sox9tm1Gsr/Sox9tm1Gsr,Tg(Col2a1/Acan-rtTA,tetO-cre)#Vlf/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0005020 abnormal late pro-B cell "anomalous structure, developoment, or number of the cells in the B lymphocyte lineage that undergo V-DJ rearrangement of the immunoglobulin heavy chain" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7]
Show

Allelic Composition: Sox9tm1Gsr/Sox9tm1Gsr,Tg(Col2a1/Acan-rtTA,tetO-cre)#Vlf/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0005022 abnormal immature B cell "anomalous structure, development, or number of the cells of the B lymphocyte lineage that have undergone VDJ rearragnement of the heavy chain and V-J rearrangement of the light chain; these cells express IgM on the cell surface but have not yet been selected for self-reactivity" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7]
Show

Allelic Composition: Sox9tm1Gsr/Sox9tm1Gsr,Tg(Col2a1/Acan-rtTA,tetO-cre)#Vlf/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0005093 impaired B cell proliferation "absent or reduced ability of B cells to grow and divide in response to stimuli " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Sox9tm1Gsr/Sox9tm1Gsr,Tg(Col2a1/Acan-rtTA,tetO-cre)#Vlf/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0005408 hypopigmentation "dilution of the pigment in the body" [llw2:Linda Washburn , Mouse Genome Informatics Curator]
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Allelic Composition: Traf4m1Pav/Traf4m1Pav,Sox10tm1Weg/Sox10+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BALB/cJ * C57BL/6J

 MP:0005432 abnormal pro-B cell "anomalous structure, development, or number of cells in the developing B cell lineage that have displayed B cell surface markers, but have not yet completed heavy chain gene rearrangement" [Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Sox9tm1Gsr/Sox9tm1Gsr,Tg(Col2a1/Acan-rtTA,tetO-cre)#Vlf/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0008174 decreased follicular B cell number "reduced number of resting mature B cells with distinct phenotypic characteristics (CD23-positive, CD21-positive) found typically in the B cell follicle region of the spleen and lymph nodes" [CL:0000843, ISBN:0781735149, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Sox9tm1Gsr/Sox9tm1Gsr,Tg(Col2a1/Acan-rtTA,tetO-cre)#Vlf/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0008208 decreased pro-B cell number "reduced number of the progenitor cells of the B cell lineage, with some lineage specific activity such as early stages of recombination of B cell receptor genes, but are not yet fully committed to the B cell lineage until the expression of PAX5 occurs" [CL:0000826, ISBN:0781735149, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Sox9tm1Gsr/Sox9tm1Gsr,Tg(Col2a1/Acan-rtTA,tetO-cre)#Vlf/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0008249 abnormal common lymphocyte progenitor cell morphology "any structural anomaly of a progenitor cell committed to the lymphoid lineage" [CL:0000051, PMID:10407577]
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Allelic Composition: Sox9tm1Gsr/Sox9tm1Gsr,Tg(Col2a1/Acan-rtTA,tetO-cre)#Vlf/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0008760 abnormal immunoglobulin heavy chain V(D)J recombination "any anomaly in the process by which V, D, and J gene segments of the immunoglobulin heavy chain are recombined" [MGI:tmeehan "Terry Meehan, Mouse Genome Informatics Curator"]
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Allelic Composition: Sox9tm1Gsr/Sox9tm1Gsr,Tg(Col2a1/Acan-rtTA,tetO-cre)#Vlf/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0008782 increased B cell apoptosis "increase in the timing or the number of B cells undergoing programmed cell death" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Sox9tm1Gsr/Sox9tm1Gsr,Tg(Col2a1/Acan-rtTA,tetO-cre)#Vlf/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0011096 complete embryonic lethality before somite formation "death of all organisms of a given genotype in a population between the point of implantation and somite formation (Mus: E4.5 to less than E8)" [MGI:csmith]
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Allelic Composition: Cited1tm1Dunw/Cited1+
Genetic Background: B6.129P2-Cited1tm1Dunw

 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: Smarcc1msp3/Smarcc1msp3,Sox10tm1Weg/Sox10+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BALB/cJ * C57BL/6J

 MP:0013207 absent endoderm "absence of the innermost of the three primary germ layers of the embryo (the others being mesoderm and ectoderm) that is formed during gastrulation" [MGI:anna]
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Allelic Composition: Cited1tm1Dunw/Cited1+
Genetic Background: B6.129P2-Cited1tm1Dunw

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000000902 Q9Z0H3 / Smarcb1 / SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 / Q12824*  / complex
 ENSMUSG00000000561 Wdr77 / Q99J09 / WD repeat domain 77 / Q9BQA1*  / reaction / complex
 ENSMUSG00000023110 Prmt5 / protein arginine N-methyltransferase 5 / O14744* / protein arginine methyltransferase 5*  / reaction / complex
 ENSMUSG00000025369 Q6PDG5 / Smarcc2 / SWI/SNF complex subunit SMARCC2 / Q8TAQ2* / SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2*  / complex
 ENSMUSG00000032187 Q3TKT4 / Smarca4 / SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 / P51532*  / complex
 ENSMUSG00000031885 Cbfb / Q08024 / Core-binding factor subunit beta / Q13951* / core-binding factor beta subunit*  / complex / reaction






 

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