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KHDRBS2 KH RNA binding domain containing, signal transduction associated 2 [ Homo sapiens (human) ]

Gene ID: 202559, updated on 5-Aug-2022

Summary

Official Symbol
KHDRBS2provided by HGNC
Official Full Name
KH RNA binding domain containing, signal transduction associated 2provided by HGNC
Primary source
HGNC:HGNC:18114
See related
Ensembl:ENSG00000112232 MIM:610487; AllianceGenome:HGNC:18114
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SLM1; SLM-1
Summary
Predicted to enable mRNA binding activity and poly(A) binding activity. Predicted to be involved in regulation of alternative mRNA splicing, via spliceosome. Predicted to be located in nucleoplasm. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

See KHDRBS2 in Genome Data Viewer
Location:
6q11.1
Exon count:
19
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (61542670..62286225, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (62687495..63431119, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (62252575..62996130, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 41 Neighboring gene RBBP4 pseudogene 3 Neighboring gene Sharpr-MPRA regulatory region 7997 Neighboring gene Sharpr-MPRA regulatory region 774 Neighboring gene MT-RNR2 like 9 (pseudogene) Neighboring gene dihydrofolate reductase pseudogene 5 Neighboring gene keratin, type II pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Rev rev Overexpression of the two GSG family members, SLM1 and SLM2, enhance unspliced HIV RNA cleavage and expression PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ38664, MGC26664

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables SH2 domain binding IEA
Inferred from Electronic Annotation
more info
 
enables SH3 domain binding IEA
Inferred from Electronic Annotation
more info
 
enables mRNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables poly(A) binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables poly(U) RNA binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in mRNA processing IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of alternative mRNA splicing, via spliceosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of mRNA splicing, via spliceosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
KH domain-containing, RNA-binding, signal transduction-associated protein 2
Names
KH domain containing, RNA binding, signal transduction associated 2
Sam68-like mammalian protein 1

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_001350622.2NP_001337551.1  KH domain-containing, RNA-binding, signal transduction-associated protein 2 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AL049544, AL133459, AL138882, AL355347, AL360220, AL391644, Z93021
    Conserved Domains (3) summary
    cd02395
    Location:61180
    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:657
    Qua1; Qua1 domain
    pfam16568
    Location:288338
    Sam68-YY; Tyrosine-rich domain of Sam68
  2. NM_152688.4NP_689901.2  KH domain-containing, RNA-binding, signal transduction-associated protein 2 isoform 2

    See identical proteins and their annotated locations for NP_689901.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AK292043, AL049544, AY077838, BC034043, D60325, Z93021
    Consensus CDS
    CCDS4963.1
    UniProtKB/Swiss-Prot
    Q5VWX1, Q8TCZ4
    Related
    ENSP00000281156.3, ENST00000281156.5
    Conserved Domains (3) summary
    cd02395
    Location:61180
    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:557
    Qua1; Qua1 domain
    pfam16568
    Location:267321
    Sam68-YY; Tyrosine-rich domain of Sam68

RNA

  1. NR_146870.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL049544, AL138882, AL355347, AL356135, AL360220, AL391644, Z93021
  2. NR_146871.3 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL049544, AL138882, AL355347, AL360220, AL391644, Z93021
  3. NR_146872.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL049544, AL138882, AL355347, AL360220, AL391644, Z93021
    Related
    ENST00000675091.1
  4. NR_146873.3 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL049544, AL138882, AL355347, AL360220, AL391644, Z93021
  5. NR_146874.3 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL049544, AL138882, AL355347, AL360220, AL391644, Z93021

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    61542670..62286225 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    62687495..63431119 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)