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

    Gene ID: 10656, updated on 3-Apr-2024

    Summary

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    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, Apr 2022]
    Expression
    Biased expression in testis (RPKM 33.1), brain (RPKM 14.0) and 10 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    8q24.23
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (135457456..135656516)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (136575311..136774451)
    105.20220307 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

    Bibliography

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    Related articles in PubMed

    1. SLM2 Is A Novel Cardiac Splicing Factor Involved in Heart Failure due to Dilated Cardiomyopathy. Boeckel JN, et al. Genomics Proteomics Bioinformatics, 2022 Feb. PMID 34273561, Free PMC Article
    2. KHDRBS3 promotes multi-drug resistance and anchorage-independent growth in colorectal cancer. Ukai S, et al. Cancer Sci, 2021 Mar. PMID 33423358, Free PMC Article
    3. Molecular biological analysis of 5-FU-resistant gastric cancer organoids; KHDRBS3 contributes to the attainment of features of cancer stem cell. Ukai S, et al. Oncogene, 2020 Dec. PMID 33046798
    4. [Knock-down of KHDRBS3 gene inhibits proliferation of human ovarian cancer CAOV-3 cells]. Ma X, et al. Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi, 2017 Aug. PMID 28871947
    5. Amplification and overexpression of Hsa-miR-30b, Hsa-miR-30d and KHDRBS3 at 8q24.22-q24.23 in medulloblastoma. Lu Y, et al. PLoS One, 2009 Jul 7. PMID 19584924, Free PMC Article

    See all (79) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SLM2 Is A Novel Cardiac Splicing Factor Involved in Heart Failure due to Dilated Cardiomyopathy.
      Title: SLM2 Is A Novel Cardiac Splicing Factor Involved in Heart Failure due to Dilated Cardiomyopathy.
    2. KHDRBS3 promotes paclitaxel resistance and induces glycolysis through modulated MIR17HG/CLDN6 signaling in epithelial ovarian cancer.
      Title: KHDRBS3 promotes paclitaxel resistance and induces glycolysis through modulated MIR17HG/CLDN6 signaling in epithelial ovarian cancer.
    3. KHDRBS3 promotes multi-drug resistance and anchorage-independent growth in colorectal cancer.
      Title: KHDRBS3 promotes multi-drug resistance and anchorage-independent growth in colorectal cancer.
    4. Molecular biological analysis of 5-FU-resistant gastric cancer organoids; KHDRBS3 contributes to the attainment of features of cancer stem cell.
      Title: Molecular biological analysis of 5-FU-resistant gastric cancer organoids; KHDRBS3 contributes to the attainment of features of cancer stem cell.
    5. High KHDRBS3 expression is associated with enhanced stemness in basal-like breast cancer.
      Title: SALL4 - KHDRBS3 network enhances stemness by modulating CD44 splicing in basal-like breast cancer.
    6. Down-regulating the KHDRBS3 gene can cause G0/G1 phase arrest and inhibit cell proliferation in CAOV-3 cells.
      Title: [Knock-down of KHDRBS3 gene inhibits proliferation of human ovarian cancer CAOV-3 cells].
    7. Sam68 and T-STAR could regulate alternative splicing of some pre-mRNAs by bringing two distant UAA motifs into proximity and looping out regions of the pre-mRNA.
      Title: Structural basis of RNA recognition and dimerization by the STAR proteins T-STAR and Sam68.
    8. Nuclear T-STAR protein expression correlates with HER2 status, hormone receptor negativity and prolonged recurrence free survival in primary breast cancer and decreased cancer cell growth in vitro.
      Title: Nuclear T-STAR protein expression correlates with HER2 status, hormone receptor negativity and prolonged recurrence free survival in primary breast cancer and decreased cancer cell growth in vitro.
    9. SerpinB5 interacts with KHDRBS3 and FBXO32, and KHDRBS3 can interact with FBXO32 mRNA.
      Title: SerpinB5 interacts with KHDRBS3 and FBXO32 in gastric cancer cells.
    10. data implicate hsa-miR-30b, hsa-miR-30d and KHDRBS3 as putative oncogenic target(s) of a novel recurrent medulloblastoma amplicon at 8q24.22-q24.23
      Title: Amplification and overexpression of Hsa-miR-30b, Hsa-miR-30d and KHDRBS3 at 8q24.22-q24.23 in medulloblastoma.
    Submit: New GeneRIF Correction See all GeneRIFs (13)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    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

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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

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    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)

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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_006558.3 → NP_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:4 → 53
      Qua1; Qua1 domain
      pfam16568
      Location:266 → 320
      Sam68-YY; Tyrosine-rich domain of Sam68
      cd22470
      Location:48 → 160
      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_2023_10

    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_047421269.1 → XP_047277225.1  KH domain-containing, RNA-binding, signal transduction-associated protein 3 isoform X1

    2. XM_005250758.4 → XP_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:4 → 53
      Qua1; Qua1 domain
      pfam16568
      Location:266 → 296
      Sam68-YY; Tyrosine-rich domain of Sam68
      cd22470
      Location:48 → 160
      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_011516798.2 → XP_011515100.1  KH domain-containing, RNA-binding, signal transduction-associated protein 3 isoform X4

      UniProtKB/TrEMBL
      E5RJZ9
      Conserved Domains (2) summary
      cd02395
      Location:58 → 177
      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:5 → 53
      Qua1; Qua1 domain

    4. XM_011516799.2 → XP_011515101.1  KH domain-containing, RNA-binding, signal transduction-associated protein 3 isoform X7

      Conserved Domains (2) summary
      cd02395
      Location:58 → 177
      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:5 → 53
      Qua1; Qua1 domain

    5. XM_047421268.1 → XP_047277224.1  KH domain-containing, RNA-binding, signal transduction-associated protein 3 isoform X1

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

      UniProtKB/TrEMBL
      E5RJZ9
      Conserved Domains (3) summary
      pfam16274
      Location:2 → 25
      Qua1; Qua1 domain
      pfam16568
      Location:238 → 292
      Sam68-YY; Tyrosine-rich domain of Sam68
      cl00098
      Location:20 → 132
      KH-I; K homology (KH) RNA-binding domain, type I

    7. XM_024447052.2 → XP_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:30 → 149
      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:2 → 25
      Qua1; Qua1 domain
      pfam16568
      Location:238 → 268
      Sam68-YY; Tyrosine-rich domain of Sam68

    8. XM_011516797.3 → XP_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:1 → 26
      Qua1; Qua1 domain
      pfam16568
      Location:239 → 293
      Sam68-YY; Tyrosine-rich domain of Sam68
      cd22470
      Location:21 → 133
      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_054359589.1 → XP_054215564.1  KH domain-containing, RNA-binding, signal transduction-associated protein 3 isoform X1

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

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

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

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

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

    7. XM_054359590.1 → XP_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

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O75525.1 GenPept UniProtKB/Swiss-Prot:O75525

    Gene LinkOut

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