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Entry version 159 (16 Oct 2019)
Sequence version 1 (01 Dec 2001)
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Protein

Protein quaking

Gene

QKI

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections (‘Function’, ‘PTM / Processing’, ‘Pathology and Biotech’) according to its content.<p><a href='/help/site' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

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

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-6802952 Signaling by BRAF and RAF fusions

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Protein quaking
Short name:
Hqk
Short name:
HqkI
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:QKI
Synonyms:HKQ
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 6

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:21100 QKI

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
609590 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q96PU8

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>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

DisGeNET

More...
DisGeNETi
9444

MalaCards human disease database

More...
MalaCardsi
QKI

Open Targets

More...
OpenTargetsi
ENSG00000112531

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
251671 Angiocentric glioma

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134912180

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q96PU8

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
QKI

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74761039

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002393731 – 341Protein quakingAdd BLAST341

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>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

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>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

Encyclopedia of Proteome Dynamics

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EPDi
Q96PU8

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q96PU8

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q96PU8

MaxQB - The MaxQuant DataBase

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MaxQBi
Q96PU8

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q96PU8

PeptideAtlas

More...
PeptideAtlasi
Q96PU8

PRoteomics IDEntifications database

More...
PRIDEi
Q96PU8

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
77761 [Q96PU8-1]
77762 [Q96PU8-3]
77763 [Q96PU8-5]
77764 [Q96PU8-6]
77765 [Q96PU8-8]
77766 [Q96PU8-9]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q96PU8

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q96PU8

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q96PU8

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000112531 Expressed in 249 organ(s), highest expression level in substantia nigra

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q96PU8 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q96PU8 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB022602
HPA019123

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

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

By similarity1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
114834, 94 interactors

Protein interaction database and analysis system

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IntActi
Q96PU8, 49 interactors

Molecular INTeraction database

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MINTi
Q96PU8

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000355094

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q96PU8

Database of comparative protein structure models

More...
ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini87 – 153KHAdd BLAST67

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni11 – 82Qua1 domain; involved in homodimerizationBy similarityAdd BLAST72
Regioni182 – 213Qua2 domain; involved in RNA binding1 PublicationAdd BLAST32

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi276 – 279SH3-binding4
Motifi324 – 330Nuclear localization signalBy similarity7

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

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

Keywords - Domaini

SH3-binding

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1588 Eukaryota
COG5176 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000155310

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q96PU8

KEGG Orthology (KO)

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KOi
K14945

Identification of Orthologs from Complete Genome Data

More...
OMAi
XAEGEDS

Database of Orthologous Groups

More...
OrthoDBi
1565749at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q96PU8

TreeFam database of animal gene trees

More...
TreeFami
TF314878

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.30.1370.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR004087 KH_dom
IPR004088 KH_dom_type_1
IPR036612 KH_dom_type_1_sf
IPR032367 Quaking_NLS
IPR032377 STAR_dimer

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00013 KH_1, 1 hit
PF16551 Quaking_NLS, 1 hit
PF16544 STAR_dimer, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00322 KH, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF54791 SSF54791, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (6+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 6 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 6 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All

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

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F5GYT7F5GYT7_HUMAN
Protein quaking
QKI
41Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5GXS8F5GXS8_HUMAN
Protein quaking
QKI
160Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5GYM3F5GYM3_HUMAN
Protein quaking
QKI
170Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5H8C8F5H8C8_HUMAN
Protein quaking
QKI
100Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YGD6H0YGD6_HUMAN
Protein quaking
QKI
185Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YG47H0YG47_HUMAN
Protein quaking
QKI
238Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5H5U6F5H5U6_HUMAN
Protein quaking
QKI
47Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YFB7H0YFB7_HUMAN
Protein quaking
QKI
34Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>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. Extended N-terminus.Curated
The sequence AAF63414 differs from that shown. Cloning artifact in N-terminus.Curated
The sequence AAF63414 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.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. Extended N-terminus.Curated
The sequence BAB55032 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti30S → G in ABC88600 (Ref. 3) Curated1
Sequence conflicti208N → D in AAH12222 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_036051336R → Q in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs1258390251Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS43525.1 [Q96PU8-8]
CCDS5285.1 [Q96PU8-1]
CCDS5286.1 [Q96PU8-9]
CCDS5287.1 [Q96PU8-6]
CCDS75546.1 [Q96PU8-3]

NCBI Reference Sequences

More...
RefSeqi
NP_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]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000275262; 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]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
9444

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:9444

UCSC genome browser

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UCSCi
uc003que.4 human [Q96PU8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

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]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4JVHX-ray3.50A7-214[»]
SMRiQ96PU8
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi114834, 94 interactors
IntActiQ96PU8, 49 interactors
MINTiQ96PU8
STRINGi9606.ENSP00000355094

PTM databases

iPTMnetiQ96PU8
PhosphoSitePlusiQ96PU8
SwissPalmiQ96PU8

Polymorphism and mutation databases

BioMutaiQKI
DMDMi74761039

Proteomic databases

EPDiQ96PU8
jPOSTiQ96PU8
MassIVEiQ96PU8
MaxQBiQ96PU8
PaxDbiQ96PU8
PeptideAtlasiQ96PU8
PRIDEiQ96PU8
ProteomicsDBi77761 [Q96PU8-1]
77762 [Q96PU8-3]
77763 [Q96PU8-5]
77764 [Q96PU8-6]
77765 [Q96PU8-8]
77766 [Q96PU8-9]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
9444

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]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
9444
DisGeNETi9444

GeneCards: human genes, protein and diseases

More...
GeneCardsi
QKI
HGNCiHGNC:21100 QKI
HPAiCAB022602
HPA019123
MalaCardsiQKI
MIMi609590 gene
neXtProtiNX_Q96PU8
OpenTargetsiENSG00000112531
Orphaneti251671 Angiocentric glioma
PharmGKBiPA134912180

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1588 Eukaryota
COG5176 LUCA
GeneTreeiENSGT00940000155310
InParanoidiQ96PU8
KOiK14945
OMAiXAEGEDS
OrthoDBi1565749at2759
PhylomeDBiQ96PU8
TreeFamiTF314878

Enzyme and pathway databases

ReactomeiR-HSA-6802952 Signaling by BRAF and RAF fusions

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
QKI human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
QKI

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
9444
PharosiQ96PU8

Protein Ontology

More...
PROi
PR:Q96PU8

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000112531 Expressed in 249 organ(s), highest expression level in substantia nigra
ExpressionAtlasiQ96PU8 baseline and differential
GenevisibleiQ96PU8 HS

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

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiQKI_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q96PU8
Secondary accession number(s): Q2I375
, Q5MJQ1, Q969L9, Q96EJ3, Q96KA3, Q96PU6, Q96PU7, Q9P0X6, Q9P0X7, Q9P0X8, Q9P0X9, Q9P0Y0, Q9P0Y1
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 13, 2006
Last sequence update: December 1, 2001
Last modified: October 16, 2019
This is version 159 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  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. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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