ENSMUSG00000028790


Mus musculus

Features
Gene ID: ENSMUSG00000028790
  
Biological name :Khdrbs1
  
Synonyms : KH domain-containing, RNA-binding, signal transduction-associated protein 1 / Khdrbs1 / Q60749
  
Possible biological names infered from orthology : KH RNA binding domain containing, signal transduction associated 1 / Q07666
  
Species: Mus musculus
  
Chr. number: 4
Strand: -1
Band: D2.2
Gene start: 129703164
Gene end: 129742303
  
Corresponding Affymetrix probe sets: 10516706 (MoGene1.0st)   10574436 (MoGene1.0st)   1418628_at (Mouse Genome 430 2.0 Array)   1418629_a_at (Mouse Genome 430 2.0 Array)   1418630_at (Mouse Genome 430 2.0 Array)   1434541_x_at (Mouse Genome 430 2.0 Array)   1437389_x_at (Mouse Genome 430 2.0 Array)   1438461_at (Mouse Genome 430 2.0 Array)   1438462_x_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000066516
Ensembl peptide - ENSMUSP00000115402
NCBI entrez gene - 20218     See in Manteia.
MGI - MGI:893579
RefSeq - NM_011317
RefSeq Peptide - NP_035447
swissprot - Q60749
Ensembl - ENSMUSG00000028790
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 khdrbs1aENSDARG00000052856Danio rerio
 khdrbs1bENSDARG00000070475Danio rerio
 KHDRBS1ENSGALG00000003272Gallus gallus
 Q07666ENSG00000121774Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q9WU01 / Khdrbs2 / KH domain-containing, RNA-binding, signal transduction-associated protein 2 / Q5VWX1* / KH RNA binding domain containing, signal transduction associated 2*ENSMUSG0000002605849
Q9R226 / Khdrbs3 / KH domain-containing, RNA-binding, signal transduction-associated protein 3 / O75525* / KH RNA binding domain containing, signal transduction associated 3*ENSMUSG0000002233244
Qk / Q9QYS9 / Protein quaking / QKI* / Q96PU8* / QKI, KH domain containing RNA binding*ENSMUSG0000006207825
Sf1 / Q64213 / Splicing factor 1 / Q15637*ENSMUSG0000002494921


Protein motifs (from Interpro)
Interpro ID Name
 IPR004087  K Homology domain
 IPR004088  K Homology domain, type 1
 IPR032335  Sam68, tyrosine-rich domain
 IPR032571  KHDRBS, Qua1 domain
 IPR036612  K Homology domain, type 1 superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006397 mRNA processing IEA
 biological_processGO:0007049 cell cycle IEA
 biological_processGO:0007166 cell surface receptor signaling pathway IEA
 biological_processGO:0007283 spermatogenesis IEA
 biological_processGO:0009967 positive regulation of signal transduction IEA
 biological_processGO:0045892 negative regulation of transcription, DNA-templated IDA
 biological_processGO:0045948 positive regulation of translational initiation IEA
 biological_processGO:0046831 regulation of RNA export from nucleus IDA
 biological_processGO:0046833 positive regulation of RNA export from nucleus IEA
 biological_processGO:0048024 regulation of mRNA splicing, via spliceosome IDA
 biological_processGO:0051259 protein complex oligomerization IEA
 cellular_componentGO:0005634 nucleus ISO
 cellular_componentGO:0005654 nucleoplasm IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0016020 membrane ISO
 cellular_componentGO:0070618 Grb2-Sos complex IEA
 molecular_functionGO:0003676 nucleic acid binding IEA
 molecular_functionGO:0003723 RNA binding ISO
 molecular_functionGO:0005070 SH3/SH2 adaptor activity IPI
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008143 poly(A) binding IEA
 molecular_functionGO:0008266 poly(U) RNA binding IEA
 molecular_functionGO:0017124 SH3 domain binding IEA
 molecular_functionGO:0019904 protein domain specific binding IEA
 molecular_functionGO:0042802 identical protein binding IEA


Pathways (from Reactome)
Pathway description
PTK6 Regulates Proteins Involved in RNA Processing


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000062 increased bone density "increased mineral content of bone; indicator of bone strength" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:61295]
Show

Allelic Composition: Ercc2tm3Jhjh/Ercc2tm3Jhjh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB

 MP:0000168 abnormal bone marrow development "malformation or anomalous differentiation of the soft, pulpy tissue filling the medullary cavities of bones" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Ercc2tm3Jhjh/Ercc2tm3Jhjh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB

 MP:0000774 reduced brain size "smaller appearance of the brain" [J:35802]
Show

Allelic Composition: Setd1btm1.3Afst/Setd1btm1.3Afst
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BALB/c * C57BL/6

 MP:0000852 small cerebellum "reduced size of cerebellum" [MGI:CLS, J:17203, J:67524]
Show

Allelic Composition: Khdrbs1tm1Rchd/Khdrbs1tm1Rchd,Khdrbs2tm1.1Schei/Khdrbs2tm1.1Schei
Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * BALB/cJ

 MP:0000884 delaminated Purkinje cell layer "splitting or disorganization of the layer of large neuron cell bodies between the molecular and granular layers of the cerebellum" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:61509]
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Allelic Composition: Khdrbs1tm1Rchd/Khdrbs1tm1Rchd,Khdrbs2tm1.1Schei/Khdrbs2tm1.1Schei
Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * BALB/cJ

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
Show

Allelic Composition: Ercc2tm3Jhjh/Ercc2tm3Jhjh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB

 MP:0001386 abnormal maternal nurturing "failure of mothers to tend offspring" [J:39801]
Show

Allelic Composition: Ercc2tm3Jhjh/Ercc2tm3Jhjh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB

 MP:0001533 abnormal skeleton physiology "anomalous function of the bony framework of the body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Ercc2tm3Jhjh/Ercc2tm3Jhjh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB

 MP:0001924 infertility "inability to produce live offspring" [J:47225]
Show

Allelic Composition: Setd1btm1.3Afst/Setd1btm1.3Afst
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BALB/c * C57BL/6

 MP:0001925 male infertility "inability of male to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409]
Show

Allelic Composition: Ercc2tm3Jhjh/Ercc2tm3Jhjh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB

 MP:0002998 abnormal bone remodeling "aberrant process of the turnover of bone matrix that involves a balance of resorbtion and formation by osteoclasts and osteoblasts, respectively" [ava:Anna V. Anagnostopoulos , Mouse Genome Informatics Curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Ercc2tm3Jhjh/Ercc2tm3Jhjh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB

 MP:0005006 abnormal osteoblast function "anomalous function of this bone-forming cell, which normally forms an osseous matrix in which it becomes enclosed as an osteocyte " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Ercc2tm3Jhjh/Ercc2tm3Jhjh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB

 MP:0005605 increased bone mass "an increase in the total amount of bone tissue contained in the skeleton" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Ercc2tm3Jhjh/Ercc2tm3Jhjh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB

 MP:0005666 abnormal adipose tissue physiology "functional 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: Ercc2tm3Jhjh/Ercc2tm3Jhjh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB

 MP:0005668 decreased circulating leptin level "less than the normal blood concentration of the peptide hormone secreted by white adipocytes and believed to regulate food intake and energy balance" [MeSH:National Library of Medicine - Medical Subject Headings, 2003, J:34751]
Show

Allelic Composition: Ercc2tm3Jhjh/Ercc2tm3Jhjh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB

 MP:0009719 reduced cerebellar foliation "the cerebellar lobules are reduced in size or number" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Khdrbs1tm1Rchd/Khdrbs1tm1Rchd,Khdrbs2tm1.1Schei/Khdrbs2tm1.1Schei
Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * BALB/cJ

Allelic Composition: Khdrbs1tm1Rchd/Khdrbs1tm1Rchd
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0011090 partial perinatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms within the perinatal period (Mus: E18.5 through postnatal day 1)" [MGI:csmith]
Show

Allelic Composition: Ercc2tm3Jhjh/Ercc2tm3Jhjh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000038751 Ptk6 / Q64434 / PTK6 protein tyrosine kinase 6 / Q13882* / protein tyrosine kinase 6*  / reaction / complex






 

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