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    KHDRBS3 KH RNA binding domain containing, signal transduction associated 3 [ Homo sapiens (human) ]

    Gene ID: 10656, updated on 28-Oct-2024

    Summary

    Official Symbol
    KHDRBS3provided by HGNC
    Official Full Name
    KH RNA binding domain containing, signal transduction associated 3provided by HGNC
    Primary source
    HGNC:HGNC:18117
    See related
    Ensembl:ENSG00000131773 MIM:610421; AllianceGenome:HGNC:18117
    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
    Etle; SALP; SLM2; SLM-2; TSTAR; T-STAR; etoile
    Summary
    Enables RNA binding activity; identical protein binding activity; and protein domain specific binding activity. Predicted to be involved in regulation of alternative mRNA splicing, via spliceosome and spermatogenesis. Located in nucleoplasm. Part of protein-containing complex. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Biased expression in testis (RPKM 33.1), brain (RPKM 14.0) and 10 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See KHDRBS3 in Genome Data Viewer
    Location:
    8q24.23
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (135457456..135656516)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (136575311..136774451)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (136469699..136659853)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L23a pseudogene 56 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:136271585-136272217 Neighboring gene long intergenic non-protein coding RNA 1591 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:136408400-136409179 Neighboring gene uncharacterized LOC101927872 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:136452424-136453011 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19569 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:136531201-136531857 Neighboring gene MAPRE1 pseudogene 1 Neighboring gene uncharacterized LOC124902046 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:136686601-136686790 Neighboring gene RNA, U1 small nuclear 35, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of KH domain containing, RNA binding, signal transduction associated 3 (KHDRBS3) by siRNA has both activating and inhibiting activities on HIV-1 replication in HeLa P4/R5 cells, suggesting a regulatory role in HIV replication PubMed

    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
    Vif vif HIV-1 Vif upregulates the expression of KH domain containing, RNA binding, signal transduction associated 3 (KHDRBS3) in Vif-expression T cells 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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables SH3 domain binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables identical protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables mRNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein domain specific 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
     
    Component Evidence Code Pubs
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    KH domain-containing, RNA-binding, signal transduction-associated protein 3
    Names
    KH domain containing, RNA binding, signal transduction associated 3
    RNA-binding protein T-Star
    Sam68-like phosphotyrosine protein, T-STAR
    sam68-like mammalian protein 2

    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_006558.3NP_006549.1  KH domain-containing, RNA-binding, signal transduction-associated protein 3

      See identical proteins and their annotated locations for NP_006549.1

      Status: VALIDATED

      Source sequence(s)
      AC040914, AF051321, BC032606, BC106028, CB155439
      Consensus CDS
      CCDS6374.1
      UniProtKB/Swiss-Prot
      O75525, Q6NUL8, Q9UPA8
      Related
      ENSP00000348108.5, ENST00000355849.10
      Conserved Domains (3) summary
      pfam16274
      Location:453
      Qua1; Qua1 domain
      pfam16568
      Location:266320
      Sam68-YY; Tyrosine-rich domain of Sam68
      cd22470
      Location:48160
      KH-I_KHDRBS3; type I K homology (KH) RNA-binding domain found in KH domain-containing, RNA-binding, signal transduction-associated protein 3 (KHDRBS3) and similar proteins

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      135457456..135656516
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047421269.1XP_047277225.1  KH domain-containing, RNA-binding, signal transduction-associated protein 3 isoform X1

    2. XM_005250758.4XP_005250815.1  KH domain-containing, RNA-binding, signal transduction-associated protein 3 isoform X5

      See identical proteins and their annotated locations for XP_005250815.1

      UniProtKB/TrEMBL
      E5RJZ9
      Conserved Domains (3) summary
      pfam16274
      Location:453
      Qua1; Qua1 domain
      pfam16568
      Location:266296
      Sam68-YY; Tyrosine-rich domain of Sam68
      cd22470
      Location:48160
      KH-I_KHDRBS3; type I K homology (KH) RNA-binding domain found in KH domain-containing, RNA-binding, signal transduction-associated protein 3 (KHDRBS3) and similar proteins
    3. XM_011516798.2XP_011515100.1  KH domain-containing, RNA-binding, signal transduction-associated protein 3 isoform X4

      UniProtKB/TrEMBL
      E5RJZ9
      Conserved Domains (2) summary
      cd02395
      Location:58177
      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:553
      Qua1; Qua1 domain
    4. XM_011516799.2XP_011515101.1  KH domain-containing, RNA-binding, signal transduction-associated protein 3 isoform X7

      Conserved Domains (2) summary
      cd02395
      Location:58177
      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:553
      Qua1; Qua1 domain
    5. XM_047421268.1XP_047277224.1  KH domain-containing, RNA-binding, signal transduction-associated protein 3 isoform X1

    6. XM_005250757.4XP_005250814.1  KH domain-containing, RNA-binding, signal transduction-associated protein 3 isoform X3

      UniProtKB/TrEMBL
      E5RJZ9
      Conserved Domains (3) summary
      pfam16274
      Location:225
      Qua1; Qua1 domain
      pfam16568
      Location:238292
      Sam68-YY; Tyrosine-rich domain of Sam68
      cl00098
      Location:20132
      KH-I; K homology (KH) RNA-binding domain, type I
    7. XM_024447052.2XP_024302820.1  KH domain-containing, RNA-binding, signal transduction-associated protein 3 isoform X6

      UniProtKB/TrEMBL
      E5RJZ9
      Related
      ENSP00000431022.1, ENST00000524199.5
      Conserved Domains (3) summary
      cd02395
      Location:30149
      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:225
      Qua1; Qua1 domain
      pfam16568
      Location:238268
      Sam68-YY; Tyrosine-rich domain of Sam68
    8. XM_011516797.3XP_011515099.1  KH domain-containing, RNA-binding, signal transduction-associated protein 3 isoform X2

      See identical proteins and their annotated locations for XP_011515099.1

      UniProtKB/TrEMBL
      E5RJZ9
      Conserved Domains (3) summary
      pfam16274
      Location:126
      Qua1; Qua1 domain
      pfam16568
      Location:239293
      Sam68-YY; Tyrosine-rich domain of Sam68
      cd22470
      Location:21133
      KH-I_KHDRBS3; type I K homology (KH) RNA-binding domain found in KH domain-containing, RNA-binding, signal transduction-associated protein 3 (KHDRBS3) and similar proteins

    RNA

    1. XR_242372.3 RNA Sequence

    2. XR_001745458.2 RNA Sequence

    3. XR_928287.2 RNA Sequence

    4. XR_001745455.2 RNA Sequence

    5. XR_001745457.2 RNA Sequence

    6. XR_001745456.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      136575311..136774451
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054359589.1XP_054215564.1  KH domain-containing, RNA-binding, signal transduction-associated protein 3 isoform X1

    2. XM_054359593.1XP_054215568.1  KH domain-containing, RNA-binding, signal transduction-associated protein 3 isoform X5

    3. XM_054359592.1XP_054215567.1  KH domain-containing, RNA-binding, signal transduction-associated protein 3 isoform X4

    4. XM_054359595.1XP_054215570.1  KH domain-containing, RNA-binding, signal transduction-associated protein 3 isoform X7

    5. XM_054359591.1XP_054215566.1  KH domain-containing, RNA-binding, signal transduction-associated protein 3 isoform X3

    6. XM_054359594.1XP_054215569.1  KH domain-containing, RNA-binding, signal transduction-associated protein 3 isoform X6

    7. XM_054359590.1XP_054215565.1  KH domain-containing, RNA-binding, signal transduction-associated protein 3 isoform X2

    RNA

    1. XR_008487793.1 RNA Sequence

    2. XR_008487798.1 RNA Sequence

    3. XR_008487797.1 RNA Sequence

    4. XR_008487794.1 RNA Sequence

    5. XR_008487796.1 RNA Sequence

    6. XR_008487795.1 RNA Sequence