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

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, Nov 2024]
Expression: Ubiquitous expression in CNS E11.5 (RPKM 11.4), thymus adult (RPKM 9.8) and 28 other tissues See more
Orthologs: human all
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Genomic context

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_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Hepatic Sam68 Regulates Systemic Glucose Homeostasis and Insulin Sensitivity.
Title: Hepatic Sam68 Regulates Systemic Glucose Homeostasis and Insulin Sensitivity.
Sam68 contributes to intestinal inflammation in experimental and human colitis.
Title: Sam68 contributes to intestinal inflammation in experimental and human colitis.
Cold-induced RNA-binding protein (CIRBP) regulates the expression of Src-associated during mitosis of 68 kDa (Sam68) and extracellular signal-regulated kinases (ERK) during heat stress-induced testicular injury.
Title: Cold-induced RNA-binding protein (CIRBP) regulates the expression of Src-associated during mitosis of 68 kDa (Sam68) and extracellular signal-regulated kinases (ERK) during heat stress-induced testicular injury.
Ablation of Sam68 in adult mice increases thermogenesis and energy expenditure.
Title: Ablation of Sam68 in adult mice increases thermogenesis and energy expenditure.
Sam68 splicing regulation contributes to motor unit establishment in the postnatal skeletal muscle.
Title: Sam68 splicing regulation contributes to motor unit establishment in the postnatal skeletal muscle.
Sam68 promotes hepatic gluconeogenesis via CRTC2.
Title: Sam68 promotes hepatic gluconeogenesis via CRTC2.
The Sam68 directly binds to the microRNA miR-29, a negative regulator of Th1 response, and inhibits its expression during BCG infection.
Title: The RNA binding protein Sam68 controls T helper 1 differentiation and anti-mycobacterial response through modulation of miR-29.
Sam68 is required for the growth and survival of nonmelanoma skin cancer.
Title: Sam68 is required for the growth and survival of nonmelanoma skin cancer.
Sam68 Enables Metabotropic Glutamate Receptor-Dependent LTD in Distal Dendritic Regions of CA1 Hippocampal Neurons.
Title: Sam68 Enables Metabotropic Glutamate Receptor-Dependent LTD in Distal Dendritic Regions of CA1 Hippocampal Neurons.
Sam68-regulated Lrrc7 variants engage in differential protein interactions with signalling proteins, thus, highlighting a contribution of the Sam68 splicing program to shaping synaptic complexes
Title: A Sam68-dependent alternative splicing program shapes postsynaptic protein complexes.

Submit: New GeneRIF Correction See all GeneRIFs (51)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (5)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Khdrbs1 (e-PCR), detects polymorphism
- UniSTS:547845

Khdrbs1 (e-PCR), detects polymorphism
- UniSTS:479169

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

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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)

NM_011317.4 → NP_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:157 → 276

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:103 → 153

Qua1; Qua1 domain

pfam16568
Location:366 → 415

Sam68-YY; Tyrosine-rich domain of Sam68

RNA

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