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

Gene ID: 9444, updated on 6-Jan-2019

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
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 Apr 4 07:08:55 2018

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_029604.2 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, ENST00000361195.6
    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_006775.3NP_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, ENST00000361752.7
    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, ENST00000453779.6
    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
  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, ENST00000275262.11
    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, 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: Homo sapiens Annotation Release 109

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, ENST00000424802.7
    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

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