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Protein

Centrosomal protein kizuna

Gene

KIZ

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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.

GO - Molecular functioni

  • protein kinase binding Source: UniProtKB

GO - Biological processi

  • spindle organization Source: UniProtKB

Enzyme and pathway databases

SIGNORiQ2M2Z5.

Names & Taxonomyi

Protein namesi
Recommended name:
Centrosomal protein kizuna
Alternative name(s):
Polo-like kinase 1 substrate 1
Gene namesi
Name:KIZ
Synonyms:C20orf19, NCRNA00153, PLK1S1
ORF Names:HT013
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

EuPathDBiHostDB:ENSG00000088970.15.
HGNCiHGNC:15865. KIZ.

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

Cell projection, Cytoplasm, Cytoskeleton

Pathology & Biotechi

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.
See also OMIM:615780

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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

DisGeNETi55857.
MalaCardsiKIZ.
MIMi615780. phenotype.
OpenTargetsiENSG00000088970.
Orphaneti791. Retinitis pigmentosa.
PharmGKBiPA165392491.

Polymorphism and mutation databases

BioMutaiPLK1S1.
DMDMi257051030.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003018511 – 673Centrosomal protein kizunaAdd BLAST673

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei317PhosphoserineCombined sources1
Modified residuei321PhosphoserineCombined sources1
Modified residuei379Phosphothreonine; by PLK11 Publication1
Modified residuei647PhosphoserineCombined sources1
Modified residuei650PhosphoserineCombined sources1
Modified residuei652PhosphoserineCombined sources1

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

EPDiQ2M2Z5.
MaxQBiQ2M2Z5.
PeptideAtlasiQ2M2Z5.
PRIDEiQ2M2Z5.

PTM databases

iPTMnetiQ2M2Z5.
PhosphoSitePlusiQ2M2Z5.

Expressioni

Gene expression databases

BgeeiENSG00000088970.
CleanExiHS_NCRNA00153.
ExpressionAtlasiQ2M2Z5. baseline and differential.
GenevisibleiQ2M2Z5. HS.

Interactioni

Subunit structurei

Interacts with AKAP9, CEP72, ODF2, PCNT and TUBGCP2.2 Publications

Binary interactionsi

Show more details

GO - Molecular functioni

  • protein kinase binding Source: UniProtKB

Protein-protein interaction databases

BioGridi120959. 11 interactors.
IntActiQ2M2Z5. 8 interactors.
MINTiMINT-7298019.

Structurei

3D structure databases

ProteinModelPortaliQ2M2Z5.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the kizuna family.Curated

Phylogenomic databases

GeneTreeiENSGT00390000010121.
InParanoidiQ2M2Z5.
KOiK16539.
OMAiQPATIFM.
OrthoDBiEOG091G18TL.
PhylomeDBiQ2M2Z5.

Family and domain databases

InterProiView protein in InterPro
IPR026742. Centrosomal_kizuma.
PANTHERiPTHR16299. PTHR16299. 2 hits.

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

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

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
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
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

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
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
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
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:
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]
UniGeneiHs.187635.

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]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiKIZ_HUMAN
AccessioniPrimary (citable) accession number: Q2M2Z5
Secondary accession number(s): B4DDE9
, B4DK54, Q4G0M8, Q4G0S5, Q5BKY3, Q6P0M6, Q71ME0, Q9NZ35
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: September 1, 2009
Last modified: October 25, 2017
This is version 93 of the entry and version 2 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 20
    Human chromosome 20: 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. SIMILARITY comments
    Index of protein domains and families