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Entry version 104 (18 Sep 2019)
Sequence version 2 (01 Sep 2009)
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Protein

Centrosomal protein kizuna

Gene

KIZ

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

Centrosomal protein required for establishing a robust mitotic centrosome architecture that can endure the forces that converge on the centrosomes during spindle formation. Required for stabilizing the expanded pericentriolar material around the centriole.1 Publication

Miscellaneous

Kizuna means 'bonds' in Japanese.

<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

  • protein kinase binding Source: UniProtKB

GO - Biological processi

  • spindle organization Source: UniProtKB

Enzyme and pathway databases

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q2M2Z5

<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:
Centrosomal protein kizuna
Alternative name(s):
Polo-like kinase 1 substrate 1
<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:KIZ
Synonyms:C20orf19, NCRNA00153, PLK1S1
ORF Names:HT013
<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 20

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:15865 KIZ

Online Mendelian Inheritance in Man (OMIM)

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MIMi
615757 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q2M2Z5

<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

<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>Keywords - Cellular componenti

Cell projection, Cytoplasm, Cytoskeleton

<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

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Retinitis pigmentosa 69 (RP69)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Related information in OMIM

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>Mutagenesisi249T → A: Does not affect phosphorylation status. 1 Publication1
Mutagenesisi379T → A: Abolishes phosphorylation by PLK1. 1 Publication1
Mutagenesisi379T → E: Phosphomimetic mutant able to partially restore focused bipolar spindles to PLK1-depleted cells that otherwise possess aberrant spindles with diffuse or multiple gamma-tubulin signals. 1 Publication1

Keywords - Diseasei

Retinitis pigmentosa

Organism-specific databases

DisGeNET

More...
DisGeNETi
55857

MalaCards human disease database

More...
MalaCardsi
KIZ
MIMi615780 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000088970

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

More...
Orphaneti
791 Retinitis pigmentosa

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA165392491

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
KIZ

Domain mapping of disease mutations (DMDM)

More...
DMDMi
257051030

<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_00003018511 – 673Centrosomal protein kizunaAdd BLAST673

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 residuei317PhosphoserineCombined sources1
Modified residuei321PhosphoserineCombined sources1
Modified residuei379Phosphothreonine; by PLK11 Publication1
Modified residuei647PhosphoserineCombined sources1
Modified residuei650PhosphoserineCombined sources1
Modified residuei652PhosphoserineCombined sources1

<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

Phosphorylation at Thr-379 by PLK1 is not needed for centrosomal localization or pericentriolar material expansion but is indispensable for spindle-pole stabilization.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q2M2Z5

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q2M2Z5

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q2M2Z5

MaxQB - The MaxQuant DataBase

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MaxQBi
Q2M2Z5

PeptideAtlas

More...
PeptideAtlasi
Q2M2Z5

PRoteomics IDEntifications database

More...
PRIDEi
Q2M2Z5

ProteomicsDB human proteome resource

More...
ProteomicsDBi
61359 [Q2M2Z5-1]
61360 [Q2M2Z5-2]
61361 [Q2M2Z5-3]
61362 [Q2M2Z5-4]
61363 [Q2M2Z5-5]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q2M2Z5

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

More...
PhosphoSitePlusi
Q2M2Z5

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000088970 Expressed in 227 organ(s), highest expression level in sperm

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q2M2Z5 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q2M2Z5 HS

<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

Interacts with AKAP9, CEP72, ODF2, PCNT and TUBGCP2.

2 Publications

<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
120959, 12 interactors

Protein interaction database and analysis system

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IntActi
Q2M2Z5, 12 interactors

Molecular INTeraction database

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MINTi
Q2M2Z5

STRING: functional protein association networks

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STRINGi
9606.ENSP00000479542

<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

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the kizuna family.Curated

Phylogenomic databases

Ensembl GeneTree

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GeneTreei
ENSGT00390000010121

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q2M2Z5

KEGG Orthology (KO)

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KOi
K16539

Identification of Orthologs from Complete Genome Data

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OMAi
HGLRDSE

Database of Orthologous Groups

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OrthoDBi
573736at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q2M2Z5

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR026742 Centrosomal_kizuma

The PANTHER Classification System

More...
PANTHERi
PTHR16299 PTHR16299, 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 (5+)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 5 <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 5 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q2M2Z5-1) [UniParc]FASTAAdd to basket

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
MSRTLASAVP LSSPDYYERL GQLQHGLRDS EKKRLDLEKK LYEYNQSDTC
60 70 80 90 100
RVKLKYVKLK NYLKEICESE KKAHTRNQEY LKRFERVQAH VVHFTTNTEK
110 120 130 140 150
LQKLKLEYET QIKKMLCSKD SLGLKEELTD EDREKVAVHE GINSGTAMSR
160 170 180 190 200
GLYQPATIFM GRQMSAILSM RDFSTEHKSP QPTKNFSIPD PHSHRQTAQS
210 220 230 240 250
SNVTDSCVVQ TSNDTQCLNK SDNIDGKASL QIGEKMPVTA SVLSEEEQTH
260 270 280 290 300
CLEIGSNTRH GKSNLSEGKK SAELNSPLRE RLSPENRTTD LKCDSSSGSE
310 320 330 340 350
GEILTREHIE VEEKRASPPV SPIPVSEYCE SENKWSQEKH SPWEGVSDHL
360 370 380 390 400
AHREPKSQKP FRKMQEEEEE SWSTSSDLTI SISEDDLILE SPEPQPNPGG
410 420 430 440 450
KMEGEDGIEA LKLIHAEQER VALSTEKNCI LQTLSSPDSE KESSTNAPTR
460 470 480 490 500
EPGQTPDSDV PRAQVGQHVA TLKEHDNSVK EEATALLRKA LTEECGRRSA
510 520 530 540 550
IHSSESSCSL PSILNDNSGI KEAKPAVWLN SVPTREQEVS SGCGDKSKKE
560 570 580 590 600
NVAADIPITE TEAYQLLKKA TLQDNTNQTE NRFQKTDASV SHLSGLNIGS
610 620 630 640 650
GAFETKTANK IASEASFSSS EGSPLSRHEN KKKPVINLKS NALWDESDDS
660 670
NSEIEAALRP RNHNTDDSDD FYD
Length:673
Mass (Da):75,111
Last modified:September 1, 2009 - v2
<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:i3B6BDE3A479B5933
GO
Isoform 2 (identifier: Q2M2Z5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-103: Missing.
     104-105: LK → MQ

Show »
Length:570
Mass (Da):62,798
Checksum:i24F593D7ECCA4BF3
GO
Isoform 3 (identifier: Q2M2Z5-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     628-673: Missing.

Note: No experimental confirmation available.
Show »
Length:627
Mass (Da):69,784
Checksum:i10CB283429F7D3B7
GO
Isoform 4 (identifier: Q2M2Z5-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     642-673: ALWDESDDSNSEIEAALRPRNHNTDDSDDFYD → GERDNRTLDFLFLF

Show »
Length:655
Mass (Da):73,140
Checksum:i469FCB81E188B615
GO
Isoform 5 (identifier: Q2M2Z5-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-133: Missing.
     134-135: EK → MQ

Note: No experimental confirmation available.
Show »
Length:540
Mass (Da):59,243
Checksum:i519B65A4F1D63402
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 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087X251A0A087X251_HUMAN
Centrosomal protein kizuna
KIZ
624Annotation 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>
A0A087X0T6A0A087X0T6_HUMAN
Centrosomal protein kizuna
KIZ
624Annotation 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>
A0A087WX12A0A087WX12_HUMAN
Centrosomal protein kizuna
KIZ
450Annotation 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>
A0A087X032A0A087X032_HUMAN
Centrosomal protein kizuna
KIZ
521Annotation 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>
A0A087WTH3A0A087WTH3_HUMAN
Centrosomal protein kizuna
KIZ
538Annotation 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>
A0A087WXA9A0A087WXA9_HUMAN
Centrosomal protein kizuna
KIZ
61Annotation 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 AAF67652 differs from that shown. Reason: Frameshift at position 283.Curated
The sequence AAH39296 differs from that shown. Reason: Frameshift at position 279.Curated
The sequence AAP97689 differs from that shown. Reason: Frameshift at position 198.Curated
The sequence BAG59066 differs from that shown. Reason: Erroneous initiation.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 conflicti369E → G in AAF67652 (PubMed:15489334).Curated1
Sequence conflicti573Q → R in BAG56710 (PubMed:14702039).Curated1
Sequence conflicti594S → L in BAG59066 (PubMed:14702039).Curated1
Sequence conflicti642 – 672ALWDE…SDDFY → GERDNRTLDFLFLF in BAG59066 (PubMed:14702039).CuratedAdd BLAST31

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_034909139H → Q2 PublicationsCorresponds to variant dbSNP:rs4815025Ensembl.1
Natural variantiVAR_034910236M → T3 PublicationsCorresponds to variant dbSNP:rs2236178Ensembl.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_0378371 – 133Missing in isoform 5. 1 PublicationAdd BLAST133
Alternative sequenceiVSP_0278791 – 103Missing in isoform 2. 1 PublicationAdd BLAST103
Alternative sequenceiVSP_027880104 – 105LK → MQ in isoform 2. 1 Publication2
Alternative sequenceiVSP_037838134 – 135EK → MQ in isoform 5. 1 Publication2
Alternative sequenceiVSP_027881628 – 673Missing in isoform 3. 1 PublicationAdd BLAST46
Alternative sequenceiVSP_027882642 – 673ALWDE…DDFYD → GERDNRTLDFLFLF in isoform 4. 2 PublicationsAdd BLAST32

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

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DDBJi
Links Updated
AK293166 mRNA Translation: BAG56710.1
AK296399 mRNA Translation: BAG59066.1 Different initiation.
AF451990 mRNA Translation: AAP97689.1 Frameshift.
AL110120 Genomic DNA No translation available.
AL117332 Genomic DNA No translation available.
AL121759 Genomic DNA No translation available.
CH471133 Genomic DNA Translation: EAX10188.1
BC039296 mRNA Translation: AAH39296.1 Frameshift.
BC045826 mRNA Translation: AAH45826.1
BC065550 mRNA Translation: AAH65550.1
BC090879 mRNA Translation: AAH90879.2
BC105093 mRNA Translation: AAI05094.1
BC113370 mRNA Translation: AAI13371.1
AF220187 mRNA Translation: AAF67652.1 Frameshift.

The Consensus CDS (CCDS) project

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CCDSi
CCDS74706.1 [Q2M2Z5-1]
CCDS74707.1 [Q2M2Z5-2]
CCDS74708.1 [Q2M2Z5-5]

NCBI Reference Sequences

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RefSeqi
NP_001156494.1, NM_001163022.1 [Q2M2Z5-2]
NP_001156495.1, NM_001163023.1 [Q2M2Z5-5]
NP_060944.3, NM_018474.4 [Q2M2Z5-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000616848; ENSP00000480612; ENSG00000088970 [Q2M2Z5-5]
ENST00000619189; ENSP00000479542; ENSG00000088970 [Q2M2Z5-1]
ENST00000620891; ENSP00000478019; ENSG00000088970 [Q2M2Z5-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
55857

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:55857

UCSC genome browser

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UCSCi
uc032pdl.2 human [Q2M2Z5-1]

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
AK293166 mRNA Translation: BAG56710.1
AK296399 mRNA Translation: BAG59066.1 Different initiation.
AF451990 mRNA Translation: AAP97689.1 Frameshift.
AL110120 Genomic DNA No translation available.
AL117332 Genomic DNA No translation available.
AL121759 Genomic DNA No translation available.
CH471133 Genomic DNA Translation: EAX10188.1
BC039296 mRNA Translation: AAH39296.1 Frameshift.
BC045826 mRNA Translation: AAH45826.1
BC065550 mRNA Translation: AAH65550.1
BC090879 mRNA Translation: AAH90879.2
BC105093 mRNA Translation: AAI05094.1
BC113370 mRNA Translation: AAI13371.1
AF220187 mRNA Translation: AAF67652.1 Frameshift.
CCDSiCCDS74706.1 [Q2M2Z5-1]
CCDS74707.1 [Q2M2Z5-2]
CCDS74708.1 [Q2M2Z5-5]
RefSeqiNP_001156494.1, NM_001163022.1 [Q2M2Z5-2]
NP_001156495.1, NM_001163023.1 [Q2M2Z5-5]
NP_060944.3, NM_018474.4 [Q2M2Z5-1]

3D structure databases

Database of comparative protein structure models

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ModBasei
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SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi120959, 12 interactors
IntActiQ2M2Z5, 12 interactors
MINTiQ2M2Z5
STRINGi9606.ENSP00000479542

PTM databases

iPTMnetiQ2M2Z5
PhosphoSitePlusiQ2M2Z5

Polymorphism and mutation databases

BioMutaiKIZ
DMDMi257051030

Proteomic databases

EPDiQ2M2Z5
jPOSTiQ2M2Z5
MassIVEiQ2M2Z5
MaxQBiQ2M2Z5
PeptideAtlasiQ2M2Z5
PRIDEiQ2M2Z5
ProteomicsDBi61359 [Q2M2Z5-1]
61360 [Q2M2Z5-2]
61361 [Q2M2Z5-3]
61362 [Q2M2Z5-4]
61363 [Q2M2Z5-5]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
55857
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000616848; ENSP00000480612; ENSG00000088970 [Q2M2Z5-5]
ENST00000619189; ENSP00000479542; ENSG00000088970 [Q2M2Z5-1]
ENST00000620891; ENSP00000478019; ENSG00000088970 [Q2M2Z5-2]
GeneIDi55857
KEGGihsa:55857
UCSCiuc032pdl.2 human [Q2M2Z5-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
55857
DisGeNETi55857

GeneCards: human genes, protein and diseases

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GeneCardsi
KIZ
HGNCiHGNC:15865 KIZ
MalaCardsiKIZ
MIMi615757 gene
615780 phenotype
neXtProtiNX_Q2M2Z5
OpenTargetsiENSG00000088970
Orphaneti791 Retinitis pigmentosa
PharmGKBiPA165392491

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

GeneTreeiENSGT00390000010121
InParanoidiQ2M2Z5
KOiK16539
OMAiHGLRDSE
OrthoDBi573736at2759
PhylomeDBiQ2M2Z5

Enzyme and pathway databases

SIGNORiQ2M2Z5

Miscellaneous databases

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

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ChiTaRSi
KIZ human

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

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GenomeRNAii
55857

Pharos

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Pharosi
Q2M2Z5

Protein Ontology

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PROi
PR:Q2M2Z5

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000088970 Expressed in 227 organ(s), highest expression level in sperm
ExpressionAtlasiQ2M2Z5 baseline and differential
GenevisibleiQ2M2Z5 HS

Family and domain databases

InterProiView protein in InterPro
IPR026742 Centrosomal_kizuma
PANTHERiPTHR16299 PTHR16299, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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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 nameiKIZ_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: Q2M2Z5
Secondary accession number(s): B4DDE9
, B4DK54, Q4G0M8, Q4G0S5, Q5BKY3, Q6P0M6, Q71ME0, Q9NZ35
<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: September 11, 2007
Last sequence update: September 1, 2009
Last modified: September 18, 2019
This is version 104 of the entry and version 2 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  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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