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

Gene ID: 202559, updated on 7-Jun-2020

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
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
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See KHDRBS2 in Genome Data Viewer
Location:
6q11.1
Exon count:
27
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (61542697..62286227, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (62389865..62996100, 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 MT-RNR2 like 9 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
SH2 domain binding IEA
Inferred from Electronic Annotation
more info
 
SH3 domain binding IEA
Inferred from Electronic Annotation
more info
 
mRNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
poly(A) binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
poly(U) RNA binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
mRNA processing IEA
Inferred from Electronic Annotation
more info
 
regulation of alternative mRNA splicing, via spliceosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
nucleoplasm TAS
Traceable Author Statement
more info
 
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)

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_001350622.1NP_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
    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:657
    Qua1; Qua1 domain
    pfam16568
    Location:267321
    Sam68-YY; Tyrosine-rich domain of Sam68

RNA

  1. NR_146870.1 RNA Sequence

    Status: VALIDATED

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

    Status: VALIDATED

    Source sequence(s)
    AL049544, AL138882, AL355347, AL360220, AL391644, Z93021
  3. NR_146872.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL049544, AL138882, AL355347, AL360220, AL391644, Z93021
  4. NR_146873.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL049544, AL138882, AL355347, AL360220, AL391644, Z93021
  5. NR_146874.2 RNA Sequence

    Status: VALIDATED

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

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    61542697..62286227 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017010344.1XP_016865833.1  KH domain-containing, RNA-binding, signal transduction-associated protein 2 isoform X12

  2. XM_017010336.1XP_016865825.1  KH domain-containing, RNA-binding, signal transduction-associated protein 2 isoform X3

  3. XM_017010347.1XP_016865836.1  KH domain-containing, RNA-binding, signal transduction-associated protein 2 isoform X16

  4. XM_011535516.1XP_011533818.1  KH domain-containing, RNA-binding, signal transduction-associated protein 2 isoform X7

    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:288314
    Sam68-YY; Tyrosine-rich domain of Sam68
  5. XM_017010340.1XP_016865829.1  KH domain-containing, RNA-binding, signal transduction-associated protein 2 isoform X5

  6. XM_017010338.1XP_016865827.1  KH domain-containing, RNA-binding, signal transduction-associated protein 2 isoform X4

  7. XM_017010335.1XP_016865824.1  KH domain-containing, RNA-binding, signal transduction-associated protein 2 isoform X2

  8. XM_017010334.1XP_016865823.1  KH domain-containing, RNA-binding, signal transduction-associated protein 2 isoform X1

  9. XM_017010346.1XP_016865835.1  KH domain-containing, RNA-binding, signal transduction-associated protein 2 isoform X15

  10. XM_017010339.1XP_016865828.1  KH domain-containing, RNA-binding, signal transduction-associated protein 2 isoform X5

  11. XM_017010342.1XP_016865831.1  KH domain-containing, RNA-binding, signal transduction-associated protein 2 isoform X9

  12. XM_017010345.1XP_016865834.1  KH domain-containing, RNA-binding, signal transduction-associated protein 2 isoform X13

    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:267297
    Sam68-YY; Tyrosine-rich domain of Sam68
  13. XM_017010343.1XP_016865832.1  KH domain-containing, RNA-binding, signal transduction-associated protein 2 isoform X10

    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:267297
    Sam68-YY; Tyrosine-rich domain of Sam68
  14. XM_017010341.1XP_016865830.1  KH domain-containing, RNA-binding, signal transduction-associated protein 2 isoform X7

    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:288314
    Sam68-YY; Tyrosine-rich domain of Sam68
  15. XM_011535520.1XP_011533822.1  KH domain-containing, RNA-binding, signal transduction-associated protein 2 isoform X14

    Conserved Domains (2) 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
  16. XM_011535519.1XP_011533821.1  KH domain-containing, RNA-binding, signal transduction-associated protein 2 isoform X11

    Conserved Domains (2) 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
  17. XM_011535517.1XP_011533819.1  KH domain-containing, RNA-binding, signal transduction-associated protein 2 isoform X8

    Conserved Domains (2) 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
  18. XM_011535515.2XP_011533817.1  KH domain-containing, RNA-binding, signal transduction-associated protein 2 isoform X6

    Conserved Domains (2) 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

RNA

  1. XR_001743206.1 RNA Sequence

  2. XR_001743212.1 RNA Sequence

  3. XR_001743204.1 RNA Sequence

  4. XR_001743202.1 RNA Sequence

  5. XR_001743205.1 RNA Sequence

  6. XR_001743201.1 RNA Sequence

  7. XR_001743200.1 RNA Sequence

  8. XR_001743199.1 RNA Sequence

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