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Protein

Protein quaking

Gene

QKI

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

RNA-binding protein that plays a central role in myelinization (PubMed:16641098). Binds to the 5'-NACUAAY-N(1,20)-UAAY-3' RNA core sequence. Regulates target mRNA stability (PubMed:23630077). In addition, acts by regulating pre-mRNA splicing, mRNA export and protein translation. Required to protect and promote stability of mRNAs such as MBP and CDKN1B. Regulator of oligodendrocyte differentiation and maturation in the brain that may play a role in myelin and oligodendrocyte dysfunction in schizophrenia (PubMed:16641098). Participates in mRNA transport by regulating the nuclear export of MBP mRNA. Also involved in regulation of mRNA splicing of MAG pre-mRNA. Acts as a translational repressor (By similarity).By similarity2 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei97Involved in RNA binding1 Publication1
Sitei120Involved in RNA binding1 Publication1
Sitei124Involved in RNA binding1 Publication1
Sitei130Involved in RNA binding1 Publication1
Sitei190Involved in RNA binding1 Publication1
Sitei193Involved in RNA binding1 Publication1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein, RNA-binding
Biological processDifferentiation, mRNA processing, mRNA splicing, mRNA transport, Translation regulation, Transport

Enzyme and pathway databases

ReactomeiR-HSA-6802952 Signaling by BRAF and RAF fusions

Names & Taxonomyi

Protein namesi
Recommended name:
Protein quaking
Short name:
Hqk
Short name:
HqkI
Gene namesi
Name:QKI
Synonyms:HKQ
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000112531.16
HGNCiHGNC:21100 QKI
MIMi609590 gene
neXtProtiNX_Q96PU8

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi97N → A: Decrease in target mRNA abundance and 10-fold decrease in RNA binding affinity; when associated with A-130. 1 Publication1
Mutagenesisi120K → A: Decrease in target mRNA abundance and 20-fold decrease in RNA binding affinity; when associated with A-124. 1 Publication1
Mutagenesisi124R → A: Decrease in target mRNA abundance and 20-fold decrease in RNA binding affinity; when associated with A-120. 1 Publication1
Mutagenesisi130R → A: Decrease in target mRNA abundance and 10-fold decrease in RNA binding affinity; when associated with A-97. 1 Publication1
Mutagenesisi190K → A: Decrease in target mRNA abundance and 124-fold decrease in RNA binding affinity; when associated with A-193. 1 Publication1
Mutagenesisi193Q → A: Decrease in target mRNA abundance and 124-fold decrease in RNA binding affinity; when associated with A-190. 1 Publication1

Organism-specific databases

DisGeNETi9444
MalaCardsiQKI
OpenTargetsiENSG00000112531
PharmGKBiPA134912180

Polymorphism and mutation databases

BioMutaiQKI
DMDMi74761039

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002393731 – 341Protein quakingAdd BLAST341

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei188PhosphoserineCombined sources1
Modified residuei227Omega-N-methylarginineCombined sources1
Modified residuei242Asymmetric dimethylarginine; by CARM1; alternate1 Publication1
Modified residuei242Omega-N-methylarginine; alternateCombined sources1
Modified residuei256Omega-N-methylarginineBy similarity1

Post-translational modificationi

Methylated by PRMT1.By similarity
Tyrosine phosphorylated at its C-terminus, probably by FYN. Phosphorylation leads to decreased mRNA-binding affinity, affecting transport and/or stabilization of MBP mRNA (By similarity).By similarity

Keywords - PTMi

Methylation, Phosphoprotein

Proteomic databases

EPDiQ96PU8
MaxQBiQ96PU8
PaxDbiQ96PU8
PeptideAtlasiQ96PU8
PRIDEiQ96PU8
ProteomicsDBi77761
77762 [Q96PU8-3]
77763 [Q96PU8-5]
77764 [Q96PU8-6]
77765 [Q96PU8-8]
77766 [Q96PU8-9]

PTM databases

iPTMnetiQ96PU8
PhosphoSitePlusiQ96PU8

Expressioni

Tissue specificityi

Expressed in the frontal cortex of brain. Down-regulated in the brain of schizophrenic patients.1 Publication

Gene expression databases

BgeeiENSG00000112531
ExpressionAtlasiQ96PU8 baseline and differential
GenevisibleiQ96PU8 HS

Organism-specific databases

HPAiCAB022602
HPA019123

Interactioni

Subunit structurei

Homodimer (PubMed:23630077). Does not require RNA to homodimerize. Able to heterodimerize with BICC1 (By similarity).By similarity1 Publication

Binary interactionsi

Show more details

GO - Molecular functioni

Protein-protein interaction databases

BioGridi114834, 83 interactors
IntActiQ96PU8, 41 interactors
MINTiQ96PU8
STRINGi9606.ENSP00000355094

Structurei

3D structure databases

ProteinModelPortaliQ96PU8
SMRiQ96PU8
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini87 – 153KHAdd BLAST67

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni11 – 82Qua1 domain; involved in homodimerizationBy similarityAdd BLAST72
Regioni182 – 213Qua2 domain; involved in RNA binding1 PublicationAdd BLAST32

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi276 – 279SH3-binding4
Motifi324 – 330Nuclear localization signalBy similarity7

Domaini

The KH domain and the Qua2 region are involved in RNA binding.1 Publication

Keywords - Domaini

SH3-binding

Phylogenomic databases

eggNOGiKOG1588 Eukaryota
COG5176 LUCA
GeneTreeiENSGT00550000074434
HOVERGENiHBG093883
InParanoidiQ96PU8
KOiK14945
OMAiTVEDTHN
OrthoDBiEOG091G0EED
PhylomeDBiQ96PU8
TreeFamiTF314878

Family and domain databases

Gene3Di3.30.1370.10, 1 hit
InterProiView protein in InterPro
IPR004087 KH_dom
IPR004088 KH_dom_type_1
IPR036612 KH_dom_type_1_sf
IPR032367 Quaking_NLS
IPR032377 STAR_dimer
PfamiView protein in Pfam
PF00013 KH_1, 1 hit
PF16551 Quaking_NLS, 1 hit
PF16544 STAR_dimer, 1 hit
SMARTiView protein in SMART
SM00322 KH, 1 hit
SUPFAMiSSF54791 SSF54791, 1 hit

Sequences (6)i

Sequence statusi: Complete.

This entry describes 6 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96PU8-1) [UniParc]FASTAAdd to basket
Also known as: HQK-5, QKI-5

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MVGEMETKEK PKPTPDYLMQ LMNDKKLMSS LPNFCGIFNH LERLLDEEIS
60 70 80 90 100
RVRKDMYNDT LNGSTEKRSA ELPDAVGPIV QLQEKLYVPV KEYPDFNFVG
110 120 130 140 150
RILGPRGLTA KQLEAETGCK IMVRGKGSMR DKKKEEQNRG KPNWEHLNED
160 170 180 190 200
LHVLITVEDA QNRAEIKLKR AVEEVKKLLV PAAEGEDSLK KMQLMELAIL
210 220 230 240 250
NGTYRDANIK SPALAFSLAA TAQAAPRIIT GPAPVLPPAA LRTPTPAGPT
260 270 280 290 300
IMPLIRQIQT AVMPNGTPHP TAAIVPPGPE AGLIYTPYEY PYTLAPATSI
310 320 330 340
LEYPIEPSGV LGAVATKVRR HDMRVHPYQR IVTADRAATG N
Length:341
Mass (Da):37,671
Last modified:December 1, 2001 - v1
Checksum:i43E7F3A426A494C4
GO
Isoform 2 (identifier: Q96PU8-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     213-220: Missing.

Show »
Length:333
Mass (Da):36,926
Checksum:i920353FF3C2B7403
GO
Isoform 3 (identifier: Q96PU8-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     213-220: Missing.
     312-341: GAVATKVRRHDMRVHPYQRIVTADRAATGN → EWIEMPVMPDISAH

Show »
Length:317
Mass (Da):35,233
Checksum:iDB23E1D2573820DF
GO
Isoform 4 (identifier: Q96PU8-6) [UniParc]FASTAAdd to basket
Also known as: HQK-7

The sequence of this isoform differs from the canonical sequence as follows:
     312-341: GAVATKVRRHDMRVHPYQRIVTADRAATGN → EWIEMPVMPDISAH

Show »
Length:325
Mass (Da):35,978
Checksum:iB4B2DA898F0145B3
GO
Isoform 5 (identifier: Q96PU8-8) [UniParc]FASTAAdd to basket
Also known as: HQK-7B

The sequence of this isoform differs from the canonical sequence as follows:
     312-341: GAVATKVRRHDMRVHPYQRIVTADRAATGN → GKFFSPWG

Show »
Length:319
Mass (Da):35,248
Checksum:iD152389660BB4147
GO
Isoform 6 (identifier: Q96PU8-9) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     312-341: GAVATKVRRHDMRVHPYQRIVTADRAATGN → GMAFPTKG

Note: No experimental confirmation available.
Show »
Length:319
Mass (Da):35,131
Checksum:iD1427E54B0BF54E7
GO

Sequence cautioni

The sequence AAF63412 differs from that shown. Chimeric cDNA.Curated
The sequence AAF63413 differs from that shown. Cloning artifact in N-terminus.Curated
The sequence AAF63413 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence AAF63414 differs from that shown. Cloning artifact in N-terminus.Curated
The sequence AAF63414 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence AAF63415 differs from that shown. Chimeric cDNA.Curated
The sequence AAF63416 differs from that shown. Chimeric cDNA.Curated
The sequence AAF63417 differs from that shown. Cloning artifact in N-terminus.Curated
The sequence AAF63417 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAB55032 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti30S → G in ABC88600 (Ref. 3) Curated1
Sequence conflicti208N → D in AAH12222 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_036051336R → Q in a colorectal cancer sample; somatic mutation. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_019188213 – 220Missing in isoform 2 and isoform 3. 1 Publication8
Alternative sequenceiVSP_019190312 – 341GAVAT…AATGN → EWIEMPVMPDISAH in isoform 3 and isoform 4. 3 PublicationsAdd BLAST30
Alternative sequenceiVSP_019191312 – 341GAVAT…AATGN → GKFFSPWG in isoform 5. 1 PublicationAdd BLAST30
Alternative sequenceiVSP_019189312 – 341GAVAT…AATGN → GMAFPTKG in isoform 6. 1 PublicationAdd BLAST30

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB067798 mRNA Translation: BAB69496.1
AB067799 mRNA Translation: BAB69497.1
AB067800 mRNA Translation: BAB69498.1
AB067801 mRNA Translation: BAB69499.1
AB067808 Genomic DNA Translation: BAB69681.1
AF142417 mRNA Translation: AAF63412.1 Sequence problems.
AF142418 mRNA Translation: AAF63413.1 Sequence problems.
AF142419 mRNA Translation: AAF63414.1 Sequence problems.
AF142420 mRNA Translation: AAF63415.1 Sequence problems.
AF142421 mRNA Translation: AAF63416.1 Sequence problems.
AF142422 mRNA Translation: AAF63417.1 Sequence problems.
AY780788 mRNA Translation: AAV98358.1
DQ323998 mRNA Translation: ABC88600.1
AL356119 Genomic DNA No translation available.
AL031781 Genomic DNA No translation available.
BC012222 mRNA Translation: AAH12222.1
BC019917 mRNA Translation: AAH19917.1
AK027309 mRNA Translation: BAB55032.1 Different initiation.
CCDSiCCDS43525.1 [Q96PU8-8]
CCDS5285.1 [Q96PU8-1]
CCDS5286.1 [Q96PU8-9]
CCDS5287.1 [Q96PU8-6]
CCDS75546.1 [Q96PU8-3]
RefSeqiNP_001288014.1, NM_001301085.1 [Q96PU8-3]
NP_006766.1, NM_006775.2 [Q96PU8-1]
NP_996735.1, NM_206853.2 [Q96PU8-9]
NP_996736.1, NM_206854.2 [Q96PU8-6]
NP_996737.1, NM_206855.2 [Q96PU8-8]
XP_011534561.1, XM_011536259.2 [Q96PU8-5]
UniGeneiHs.510324

Genome annotation databases

EnsembliENST00000275262; ENSP00000275262; ENSG00000112531 [Q96PU8-6]
ENST00000361195; ENSP00000354867; ENSG00000112531 [Q96PU8-3]
ENST00000361752; ENSP00000355094; ENSG00000112531 [Q96PU8-1]
ENST00000361758; ENSP00000354951; ENSG00000112531 [Q96PU8-9]
ENST00000392127; ENSP00000375973; ENSG00000112531 [Q96PU8-8]
ENST00000424802; ENSP00000408382; ENSG00000112531 [Q96PU8-5]
ENST00000453779; ENSP00000408775; ENSG00000112531 [Q96PU8-9]
GeneIDi9444
KEGGihsa:9444
UCSCiuc003que.4 human [Q96PU8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiQKI_HUMAN
AccessioniPrimary (citable) accession number: Q96PU8
Secondary accession number(s): Q2I375
, Q5MJQ1, Q969L9, Q96EJ3, Q96KA3, Q96PU6, Q96PU7, Q9P0X6, Q9P0X7, Q9P0X8, Q9P0X9, Q9P0Y0, Q9P0Y1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 13, 2006
Last sequence update: December 1, 2001
Last modified: July 18, 2018
This is version 149 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references

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