Format

Send to:

Choose Destination
    • Showing Current items.

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

    Gene ID: 9444, updated on 7-Oct-2018

    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; Vega:OTTHUMG00000015977
    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

    Genomic context

    See QKI in Genome Data Viewer
    Location:
    6q26
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (163414486..163578596)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (163835675..163999628)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378100 Neighboring gene colon adenocarcinoma hypermethylated Neighboring gene uncharacterized LOC102724152 Neighboring gene uncharacterized LOC107986666 Neighboring gene uncharacterized LOC105378105

    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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Genome-wide association scan identifies candidate polymorphisms associated with differential response to anti-TNF treatment in rheumatoid arthritis.
    NHGRI GWA 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 BioSystems

    • Disease, organism-specific biosystem (from REACTOME)
      Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
    • Diseases of signal transduction, organism-specific biosystem (from REACTOME)
      Diseases of signal transduction, organism-specific biosystemSignaling processes are central to human physiology (e.g., Pires-da Silva & Sommer 2003), and their disruption by either germ-line and somatic mutation can lead to serious disease. Here, the molecula...
    • Diurnally Regulated Genes with Circadian Orthologs, organism-specific biosystem (from WikiPathways)
      Diurnally Regulated Genes with Circadian Orthologs, organism-specific biosystemHuman genes regulated in the diurnal comparison with orthologues that display circadian regulation in mouse heart and liver (Panda 2002, Storch 2002), and SCN (Panda 2002). The 608 significantly regu...
    • Oncogenic MAPK signaling, organism-specific biosystem (from REACTOME)
      Oncogenic MAPK signaling, organism-specific biosystemThe importance of the RAS/RAF/MAPK cascade in regulating cellular proliferation, differentiation and survival is highlighted by the fact that components of the pathway are mutated with high frequency...
    • Signaling by BRAF and RAF fusions, organism-specific biosystem (from REACTOME)
      Signaling by BRAF and RAF fusions, organism-specific biosystemIn addition to the more prevalent point mutations, BRAF and RAF1 are also subject to activation as a result of translocation events that yield truncated or fusion products (Jones et al, 2008; Cin et ...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • DKFZp586I0923

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA binding HDA PubMed 
    SH3 domain binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    RNA splicing IEA
    Inferred from Electronic Annotation
    more info
     
    cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    mRNA processing IEA
    Inferred from Electronic Annotation
    more info
     
    mRNA transport IEA
    Inferred from Electronic Annotation
    more info
     
    multicellular organism development IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of translation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    protein quaking
    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)

    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_029604.1 RefSeqGene

      Range
      5001..168954
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001301085.1NP_001288014.1  protein quaking 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, OTTHUMP00000239152, ENST00000361195.6, OTTHUMT00000400530
      Conserved Domains (4) 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 ...
      pfam16551
      Location:306333
      Quaking_NLS; Putative nuclear localization signal of quaking
      pfam16544
      Location:1068
      STAR_dimer; Homodimerisation region of STAR domain protein
      cl26247
      Location:195305
      DNA_pol3_delta2; DNA polymerase III, delta subunit
    2. NM_006775.2NP_006766.1  protein quaking 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
      Q96PU8
      UniProtKB/TrEMBL
      Q8WY44
      Related
      ENSP00000355094.3, OTTHUMP00000017581, ENST00000361752.7, OTTHUMT00000043016
      Conserved Domains (4) 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 ...
      pfam16551
      Location:314341
      Quaking_NLS; Putative nuclear localization signal of quaking
      pfam16544
      Location:1068
      STAR_dimer; Homodimerisation region of STAR domain protein
      cl26464
      Location:211314
      Atrophin-1; Atrophin-1 family
    3. NM_206853.2NP_996735.1  protein quaking 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, OTTHUMP00000017582, ENST00000453779.6, OTTHUMT00000043017
      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
    4. NM_206854.2NP_996736.1  protein quaking 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, OTTHUMP00000017583, ENST00000275262.11, OTTHUMT00000043018
      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
    5. NM_206855.2NP_996737.1  protein quaking 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, OTTHUMP00000239151, ENST00000392127.6, OTTHUMT00000400529
      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: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p12 Primary Assembly

      Range
      163414486..163578596
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011536260.2XP_011534562.1  protein quaking isoform X6

      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
    2. XM_011536258.2XP_011534560.1  protein quaking isoform X1

      See identical proteins and their annotated locations for XP_011534560.1

      Conserved Domains (4) 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 ...
      pfam16551
      Location:313340
      Quaking_NLS; Putative nuclear localization signal of quaking
      pfam16544
      Location:1068
      STAR_dimer; Homodimerisation region of STAR domain protein
      cl26464
      Location:212313
      Atrophin-1; Atrophin-1 family
    3. XM_017011502.1XP_016866991.1  protein quaking isoform X2

      Conserved Domains (4) 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 ...
      pfam16551
      Location:314336
      Quaking_NLS; Putative nuclear localization signal of quaking
      pfam16544
      Location:1068
      STAR_dimer; Homodimerisation region of STAR domain protein
      cl26464
      Location:211314
      Atrophin-1; Atrophin-1 family
    4. XM_017011503.1XP_016866992.1  protein quaking isoform X3

    5. XM_011536259.2XP_011534561.1  protein quaking isoform X4

      See identical proteins and their annotated locations for XP_011534561.1

      UniProtKB/Swiss-Prot
      Q96PU8
      Related
      ENSP00000408382.3, OTTHUMP00000239153, ENST00000424802.7, OTTHUMT00000400534
      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
      cl26247
      Location:195289
      DNA_pol3_delta2; DNA polymerase III, delta subunit
    6. XM_017011504.1XP_016866993.1  protein quaking isoform X5

      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
      cl26247
      Location:182311
      DNA_pol3_delta2; DNA polymerase III, delta subunit
    7. XM_011536261.1XP_011534563.1  protein quaking isoform X7

      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

    RNA

    1. XR_001743749.1 RNA Sequence

    2. XR_245557.3 RNA Sequence

    3. XR_942633.2 RNA Sequence

    4. XR_001743750.1 RNA Sequence

    Support Center