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    Khdrbs1 KH domain containing, RNA binding, signal transduction associated 1 [ Mus musculus (house mouse) ]

    Gene ID: 20218, updated on 9-Dec-2024

    Summary

    Official Symbol
    Khdrbs1provided by MGI
    Official Full Name
    KH domain containing, RNA binding, signal transduction associated 1provided by MGI
    Primary source
    MGI:MGI:893579
    See related
    Ensembl:ENSMUSG00000028790 AllianceGenome:MGI:893579
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    p62; p68; Sam68
    Summary
    Enables several functions, including identical protein binding activity; protein tyrosine kinase binding activity; and signaling adaptor activity. Involved in cell surface receptor signaling pathway and regulation of mRNA splicing, via spliceosome. Acts upstream of or within negative regulation of transcription by RNA polymerase II and regulation of RNA export from nucleus. Located in nucleus. Is expressed in several structures, including branchial arch; central nervous system; early conceptus; future brain; and gonad. Orthologous to human KHDRBS1 (KH RNA binding domain containing, signal transduction associated 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in CNS E11.5 (RPKM 11.4), thymus adult (RPKM 9.8) and 28 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See Khdrbs1 in Genome Data Viewer
    Location:
    4 D2.2; 4 63.34 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (129596143..129637402, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (129702380..129743878, complement)

    Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene karyopherin subunit alpha 6 Neighboring gene STARR-positive B cell enhancer ABC_E7992 Neighboring gene transmembrane protein 39b Neighboring gene microRNA 7016 Neighboring gene CapStarr-seq enhancer MGSCv37_chr4:129378925-129379108 Neighboring gene STARR-seq mESC enhancer starr_11505 Neighboring gene STARR-seq mESC enhancer starr_11507 Neighboring gene STARR-positive B cell enhancer mm9_chr4:129438194-129438495 Neighboring gene CapStarr-seq enhancer MGSCv37_chr4:129439040-129439227 Neighboring gene CapStarr-seq enhancer MGSCv37_chr4:129449340-129449541 Neighboring gene CapStarr-seq enhancer MGSCv37_chr4:129449548-129449839 Neighboring gene predicted gene 12967 Neighboring gene STARR-positive B cell enhancer ABC_E4671 Neighboring gene STARR-seq mESC enhancer starr_11508 Neighboring gene STARR-positive B cell enhancer ABC_E2715 Neighboring gene STARR-seq mESC enhancer starr_11510 Neighboring gene STARR-positive B cell enhancer ABC_E11257 Neighboring gene STARR-positive B cell enhancer ABC_E6225 Neighboring gene protein tyrosine phosphatase 4a2 Neighboring gene STARR-seq mESC enhancer starr_11511

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (5) 
    • Targeted (3)  1 citation

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables RNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables RNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables SH2 domain binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables SH2 domain binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables SH3 domain binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables SH3 domain binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables mRNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables poly(A) binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables poly(A) binding ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    enables poly(U) RNA binding ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein domain specific binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein tyrosine kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein tyrosine kinase binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein-containing complex binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein-containing complex binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables signaling adaptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables signaling adaptor activity ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in T cell receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in T cell receptor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cell surface receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cell surface receptor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in mRNA processing IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of RNA export from nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of RNA export from nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of translational initiation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of translational initiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within regulation of RNA export from nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of alternative mRNA splicing, via spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of alternative mRNA splicing, via spliceosome ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of alternative mRNA splicing, via spliceosome ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of mRNA splicing, via spliceosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of Grb2-Sos complex IEA
    Inferred from Electronic Annotation
    more info
     
    part_of Grb2-Sos complex ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    part_of protein-containing complex ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    KH domain-containing, RNA-binding, signal transduction-associated protein 1
    Names
    GAP-associated tyrosine phosphoprotein p62
    p21 Ras GTPase-activating protein-associated p62
    src associated in mitosis, 68 kDa
    src-associated in mitosis 68 kDa protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_011317.4NP_035447.3  KH domain-containing, RNA-binding, signal transduction-associated protein 1

      See identical proteins and their annotated locations for NP_035447.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the functional protein.
      Source sequence(s)
      AK044927, AK152084, BE986307, CJ055187
      Consensus CDS
      CCDS18703.1
      UniProtKB/Swiss-Prot
      A2ACH3, B2KG38, Q3U8T3, Q60735, Q60749, Q7M4N5, Q99M33
      Related
      ENSMUSP00000066516.6, ENSMUST00000066257.6
      Conserved Domains (3) summary
      cd02395
      Location:157276
      SF1_like-KH; Splicing factor 1 (SF1) K homology RNA-binding domain (KH). Splicing factor 1 (SF1) specifically recognizes the intron branch point sequence (BPS) UACUAAC in the pre-mRNA transcripts during spliceosome assembly. We show that the KH-QUA2 region of SF1 ...
      pfam16274
      Location:103153
      Qua1; Qua1 domain
      pfam16568
      Location:366415
      Sam68-YY; Tyrosine-rich domain of Sam68

    RNA

    1. NR_045036.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site and includes three novel exons in the 3' end, compared to variant 1. This variant is represented as non-coding because the use of the expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK050520, BB054974, CJ055187, EL606063

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000070.7 Reference GRCm39 C57BL/6J

      Range
      129596143..129637402 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_376300.4 RNA Sequence

    2. XR_001784112.3 RNA Sequence