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    QKI QKI, KH domain containing RNA binding [ Homo sapiens (human) ]

    Gene ID: 9444, updated on 5-May-2024

    Summary

    Official Symbol
    QKIprovided by HGNC
    Official Full Name
    QKI, KH domain containing RNA bindingprovided by HGNC
    Primary source
    HGNC:HGNC:21100
    See related
    Ensembl:ENSG00000112531 MIM:609590; AllianceGenome:HGNC:21100
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    QK; Hqk; QK1; QK3; hqkI
    Summary
    The protein encoded by this gene is an RNA-binding protein that regulates pre-mRNA splicing, export of mRNAs from the nucleus, protein translation, and mRNA stability. The encoded protein is involved in myelinization and oligodendrocyte differentiation and may play a role in schizophrenia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
    Expression
    Broad expression in brain (RPKM 50.5), fat (RPKM 18.4) and 21 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    6q26
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (163414718..163578592)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (164779884..164943697)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (163835750..163999624)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378100 Neighboring gene Sharpr-MPRA regulatory region 14773 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25416 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25417 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25418 Neighboring gene basic proline-rich protein-like Neighboring gene H3K27ac hESC enhancers GRCh37_chr6:163835002-163835654 and GRCh37_chr6:163835655-163836308 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17771 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17772 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:163844209-163844453 Neighboring gene colon adenocarcinoma hypermethylated Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25419 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:163956589-163956770 Neighboring gene NANOG hESC enhancer GRCh37_chr6:163964125-163964810 Neighboring gene Sharpr-MPRA regulatory region 9625 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:164008464-164009663 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:164013504-164014052 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:164032378-164032878 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:164032879-164033379 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:164039878-164041077 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25420 Neighboring gene uncharacterized LOC102724152 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25421 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25422 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25423 Neighboring gene uncharacterized LOC124901498

    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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association scan identifies candidate polymorphisms associated with differential response to anti-TNF treatment in rheumatoid arthritis.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    retropepsin gag-pol Positional proteomics analysis identifies the cleavage of human KH domain containing, RNA binding (QKI) at amino acid residues 163-164 by the HIV-1 protease 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

    Clone Names

    • DKFZp586I0923

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables RNA binding HDA PubMed 
    enables SH3 domain binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables internal N(7)-methylguanine-containing RNA reader activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables mRNA 3'-UTR binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables mRNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables mRNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in RNA splicing IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intracellular mRNA localization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in long-chain fatty acid biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mRNA processing IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mRNA transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in microglia differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in myelination IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in myofibroblast contraction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of 3'-UTR-mediated mRNA stabilization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of cold-induced thermogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of translation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of oligodendrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of astrocyte differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of epithelial to mesenchymal transition IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of mRNA splicing, via spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of mRNA splicing, via spliceosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of macrophage differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in spermatid development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in vascular associated smooth muscle cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in vasculogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasmic stress granule IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in synapse IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    KH domain-containing RNA-binding protein QKI
    Names
    QKI/LOC100132735 fusion
    RNA binding protein HQK
    homolog of mouse quaking QKI (KH domain RNA binding protein)
    quaking homolog, KH domain RNA binding

    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.

    Genomic

    1. NG_029604.2 RefSeqGene

      Range
      5076..168950
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001301085.2NP_001288014.1  KH domain-containing RNA-binding protein QKI isoform 5

      See identical proteins and their annotated locations for NP_001288014.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks an in-frame segment in the 3' coding region, compared to variant 1. The resulting isoform (5) is shorter compared to isoform 1.
      Source sequence(s)
      AL031781, AL356119, AW131362, DQ323998
      Consensus CDS
      CCDS75546.1
      UniProtKB/Swiss-Prot
      Q96PU8
      Related
      ENSP00000354867.2, ENST00000361195.6
      Conserved Domains (4) summary
      PRK14950
      Location:195305
      PRK14950; DNA polymerase III subunits gamma and tau; Provisional
      pfam16544
      Location:1066
      STAR_dimer; Homodimerization region of STAR domain protein
      pfam16551
      Location:304333
      Quaking_NLS; Putative nuclear localization signal of quaking
      cd22465
      Location:81183
      KH-I_Hqk; type I K homology (KH) RNA-binding domain found in protein quaking (Hqk) and similar proteins
    2. NM_006775.3NP_006766.1  KH domain-containing RNA-binding protein QKI isoform 1

      See identical proteins and their annotated locations for NP_006766.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1; also known as HQK-5 and QKI-5).
      Source sequence(s)
      AB067798, AB067801, AF272349, AL031781, AW131362
      Consensus CDS
      CCDS5285.1
      UniProtKB/Swiss-Prot
      Q2I375, Q5MJQ1, Q969L9, Q96EJ3, Q96KA3, Q96PU6, Q96PU7, Q96PU8, Q9P0X6, Q9P0X7, Q9P0X8, Q9P0X9, Q9P0Y0, Q9P0Y1
      Related
      ENSP00000355094.3, ENST00000361752.8
      Conserved Domains (4) summary
      PHA03247
      Location:211314
      PHA03247; large tegument protein UL36; Provisional
      pfam16544
      Location:1066
      STAR_dimer; Homodimerization region of STAR domain protein
      pfam16551
      Location:312341
      Quaking_NLS; Putative nuclear localization signal of quaking
      cd22465
      Location:81183
      KH-I_Hqk; type I K homology (KH) RNA-binding domain found in protein quaking (Hqk) and similar proteins
    3. NM_206853.3NP_996735.1  KH domain-containing RNA-binding protein QKI isoform 2

      See identical proteins and their annotated locations for NP_996735.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and coding region compared to variant 1, which results in a frameshift. The resulting isoform (2; also known as HQK-6 and QKI-6) is shorter and has a distinct C-terminus compared to isoform 1. Isoforms 2 and 4 are the same length but have different C-termini.
      Source sequence(s)
      AB067799, AB067801, AF142422, AF272349, AL031781, AW131362
      Consensus CDS
      CCDS5286.1
      UniProtKB/Swiss-Prot
      Q96PU8
      UniProtKB/TrEMBL
      Q8WY44
      Related
      ENSP00000408775.2, ENST00000453779.6
      Conserved Domains (3) summary
      PRK14951
      Location:210281
      PRK14951; DNA polymerase III subunits gamma and tau; Provisional
      pfam16544
      Location:1066
      STAR_dimer; Homodimerization region of STAR domain protein
      cd22465
      Location:81183
      KH-I_Hqk; type I K homology (KH) RNA-binding domain found in protein quaking (Hqk) and similar proteins
    4. NM_206854.3NP_996736.1  KH domain-containing RNA-binding protein QKI isoform 3

      See identical proteins and their annotated locations for NP_996736.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 3' UTR and coding region compared to variant 1, which results in a frameshift. The resulting isoform (3; also known as HQK-7 and QKI-7) is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AB067800, AB067801, AF272349, AL031781, AW131362
      Consensus CDS
      CCDS5287.1
      UniProtKB/Swiss-Prot
      Q96PU8
      UniProtKB/TrEMBL
      Q8WY44
      Related
      ENSP00000275262.7, ENST00000275262.11
      Conserved Domains (3) summary
      PRK14951
      Location:210281
      PRK14951; DNA polymerase III subunits gamma and tau; Provisional
      pfam16544
      Location:1066
      STAR_dimer; Homodimerization region of STAR domain protein
      cd22465
      Location:81183
      KH-I_Hqk; type I K homology (KH) RNA-binding domain found in protein quaking (Hqk) and similar proteins
    5. NM_206855.3NP_996737.1  KH domain-containing RNA-binding protein QKI isoform 4

      See identical proteins and their annotated locations for NP_996737.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 3' UTR and coding region compared to variant 1, which results in a frameshift. The resulting isoform (4; also known as HQK-7B and QKI-7b) is shorter and has a distinct C-terminus compared to isoform 1. Isoforms 2 and 4 are the same length but have different C-termini.
      Source sequence(s)
      AB067801, AF272349, AL031781, AW131362
      Consensus CDS
      CCDS43525.1
      UniProtKB/Swiss-Prot
      Q96PU8
      UniProtKB/TrEMBL
      Q8WY44
      Related
      ENSP00000375973.2, ENST00000392127.6
      Conserved Domains (3) summary
      cd02395
      Location:83205
      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 ...
      pfam16544
      Location:1068
      STAR_dimer; Homodimerisation region of STAR domain protein
      cl26386
      Location:210281
      DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      163414718..163578592
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017011504.2XP_016866993.1  KH domain-containing RNA-binding protein QKI isoform X1

      Conserved Domains (3) summary
      PRK14971
      Location:182311
      PRK14971; DNA polymerase III subunit gamma/tau
      pfam16544
      Location:1066
      STAR_dimer; Homodimerization region of STAR domain protein
      cd22465
      Location:81183
      KH-I_Hqk; type I K homology (KH) RNA-binding domain found in protein quaking (Hqk) and similar proteins
    2. XM_047419566.1XP_047275522.1  KH domain-containing RNA-binding protein QKI isoform X3

    3. XM_011536260.3XP_011534562.1  KH domain-containing RNA-binding protein QKI isoform X2

      Conserved Domains (3) summary
      cd02395
      Location:83157
      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 ...
      pfam16544
      Location:1068
      STAR_dimer; Homodimerization region of STAR domain protein
      pfam16551
      Location:266293
      Quaking_NLS; Putative nuclear localization signal of quaking
    4. XM_011536261.2XP_011534563.1  KH domain-containing RNA-binding protein QKI isoform X4

      Conserved Domains (2) summary
      cd02395
      Location:83183
      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 ...
      pfam16544
      Location:1068
      STAR_dimer; Homodimerization region of STAR domain protein

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      164779884..164943697
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054356831.1XP_054212806.1  KH domain-containing RNA-binding protein QKI isoform X1

    2. XM_054356833.1XP_054212808.1  KH domain-containing RNA-binding protein QKI isoform X3

    3. XM_054356832.1XP_054212807.1  KH domain-containing RNA-binding protein QKI isoform X2

    4. XM_054356835.1XP_054212810.1  KH domain-containing RNA-binding protein QKI isoform X4

    5. XM_054356834.1XP_054212809.1  KH domain-containing RNA-binding protein QKI isoform X5