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

Gene ID: 20218, updated on 8-Dec-2022

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, Apr 2022]
Expression
Ubiquitous expression in CNS E11.5 (RPKM 11.4), thymus adult (RPKM 9.8) and 28 other tissues See more
Orthologs
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Genomic context

See Khdrbs1 in Genome Data Viewer
Location:
4; 4 D2.2
Exon count:
11
Annotation release Status Assembly Chr Location
109 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 (importin) alpha 6 Neighboring gene transmembrane protein 39b Neighboring gene microRNA 7016 Neighboring gene predicted gene 12967 Neighboring gene protein tyrosine phosphatase 4a2

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)
  • Targeted (3)  1 citation
  • Endonuclease-mediated (4) 

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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 SH2 domain binding ISO
Inferred from Sequence Orthology
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
PubMed 
enables nucleic acid binding IEA
Inferred from Electronic Annotation
more info
 
enables poly(A) binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 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
 
Component Evidence Code Pubs
part_of Grb2-Sos complex ISO
Inferred from Sequence Orthology
more info
 
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in membrane ISO
Inferred from Sequence Orthology
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
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus ISO
Inferred from Sequence Orthology
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)

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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
    Q60749, Q99M33
    UniProtKB/TrEMBL
    A0A6P5PFG4, A0A8C6G685
    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: Mus musculus Annotation Release 109 details...Open this link in a new tab

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