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

Gene ID: 9444, updated on 27-Apr-2015
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; HPRD:06691; 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]
Orthologs
See QKI in MapViewer
Location:
6q26
Exon count:
7
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 6 NC_000006.12 (163414643..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 basic proline-rich protein-like Neighboring gene colon adenocarcinoma hypermethylated (non-protein coding) Neighboring gene uncharacterized LOC102724152 Neighboring gene uncharacterized LOC105378105

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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

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

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • DKFZp586I0923

Gene Ontology Provided by GOA

Function Evidence Code Pubs
SH3 domain binding IEA
Inferred from Electronic Annotation
more info
 
mRNA binding IEA
Inferred from Electronic Annotation
more info
 
poly(A) RNA binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
3'-UTR-mediated mRNA destabilization IEA
Inferred from Electronic Annotation
more info
 
RNA splicing IEA
Inferred from Electronic Annotation
more info
 
long-chain fatty acid biosynthetic process 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
 
muscle cell differentiation IEA
Inferred from Electronic Annotation
more info
 
myelination IEA
Inferred from Electronic Annotation
more info
 
positive regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
regulation of translation IEA
Inferred from Electronic Annotation
more info
 
spermatid development IEA
Inferred from Electronic Annotation
more info
 
vasculogenesis 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
 
Preferred Names
protein quaking
Names
protein quaking
RNA binding protein HQK
homolog of mouse quaking QKI (KH domain RNA binding protein)
quaking homolog, KH domain RNA binding

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
    Conserved Domains (2) 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 ...
    pfam07777
    Location:210301
    MFMR; G-box binding protein MFMR
  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/TrEMBL
    Q8WY44
    UniProtKB/Swiss-Prot
    Q96PU8
    Related
    ENSP00000355094, OTTHUMP00000017581, ENST00000361752, OTTHUMT00000043016
    Conserved Domains (2) 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 ...
    pfam07777
    Location:232309
    MFMR; G-box binding protein MFMR
  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/TrEMBL
    Q8WY44
    UniProtKB/Swiss-Prot
    Q96PU8
    Conserved Domains (2) 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 ...
    pfam07777
    Location:232309
    MFMR; G-box binding protein MFMR
  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/TrEMBL
    Q8WY44
    UniProtKB/Swiss-Prot
    Q96PU8
    Conserved Domains (2) 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 ...
    pfam07777
    Location:232309
    MFMR; G-box binding protein MFMR
  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/TrEMBL
    Q8WY44
    UniProtKB/Swiss-Prot
    Q96PU8
    Conserved Domains (2) 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 ...
    pfam07777
    Location:232309
    MFMR; G-box binding protein MFMR

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p2 Primary Assembly

    Range
    163414643..163578596
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011536260.1XP_011534562.1  

    Conserved Domains (2) 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 ...
    pfam07777
    Location:184251
    MFMR; G-box binding protein MFMR
  2. XM_011536258.1XP_011534560.1  

    See identical proteins and their annotated locations for XP_011534560.1

    Conserved Domains (2) 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 ...
    pfam07777
    Location:231308
    MFMR; G-box binding protein MFMR
  3. XM_011536259.1XP_011534561.1  

    See identical proteins and their annotated locations for XP_011534561.1

    Conserved Domains (2) 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 ...
    pfam07777
    Location:210301
    MFMR; G-box binding protein MFMR
  4. XM_011536261.1XP_011534563.1  

    Conserved Domains (1) 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 ...

RNA

  1. XR_245557.2 RNA Sequence

  2. XR_942633.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018917.2 Alternate CHM1_1.1

    Range
    164097893..164261842
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)