The protein encoded by this gene localizes to centrosomes, strengthening and stabilizing the pericentriolar region prior to spindle formation. The encoded protein usually remains with the mother centrosome after centrosomal duplication. Sevral transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013] See more...

Aliases for KIZ Gene

Aliases for KIZ Gene

  • Kizuna Centrosomal Protein 2 3 5
  • Polo-Like Kinase 1 Substrate 1 2 3 4
  • Centrosomal Protein Kizuna 3 4
  • NCRNA00153 3 4
  • C20orf19 3 4
  • PLK1S1 3 4
  • Chromosome 20 Open Reading Frame 19 2
  • Non-Protein Coding RNA 153 2
  • Kizuna 3
  • HT013 3
  • RP69 3

External Ids for KIZ Gene

Previous HGNC Symbols for KIZ Gene

  • NCRNA00153
  • C20orf19
  • PLK1S1

Previous GeneCards Identifiers for KIZ Gene

  • GC20P021107

Summaries for KIZ Gene

Entrez Gene Summary for KIZ Gene

  • The protein encoded by this gene localizes to centrosomes, strengthening and stabilizing the pericentriolar region prior to spindle formation. The encoded protein usually remains with the mother centrosome after centrosomal duplication. Sevral transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]

GeneCards Summary for KIZ Gene

KIZ (Kizuna Centrosomal Protein) is a Protein Coding gene. Diseases associated with KIZ include Retinitis Pigmentosa 69 and Retinitis Pigmentosa. Among its related pathways are PLK1 signaling events. Gene Ontology (GO) annotations related to this gene include protein kinase binding.

UniProtKB/Swiss-Prot Summary for KIZ Gene

  • 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.

Additional gene information for KIZ Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KIZ Gene

Genomics for KIZ Gene

GeneHancer (GH) Regulatory Elements for KIZ Gene

Promoters and enhancers for KIZ Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J021124 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 521.5 +0.3 261 2.5 EP300 HNRNPK FOXK2 CTCF ZSCAN5C TCF12 SIN3A NRF1 POLR2G SP1 KIZ NONHSAG031413.2 RPS15AP1 XRN2 RPL24P2 RNA5SP477 RF00001-188
GH20J021234 Enhancer 1.5 VISTA UCNEbase ENCODE 13.7 +109.4 109390 2.4 CTCF REST CHD1 RAD21 TRIM22 SMC3 CTBP1 HCFC1 ESRRA MYC KIZ NONHSAG031417.2-001 NONHSAG031417.2-002
GH20J021180 Enhancer 1.2 Ensembl ENCODE dbSUPER 14.4 +56.4 56418 5.6 ZSCAN5C FOS ZNF639 ZBTB25 EP300 TEAD1 ZBTB26 TBX3 ZKSCAN8 ZNF341 KIZ RPS15AP1 KIZ-AS1
GH20J021189 Enhancer 1.1 FANTOM5 ENCODE dbSUPER 14.3 +65.1 65073 4.1 ZSCAN5C TEAD4 ZNF10 ZIC2 TRIM28 HDAC2 ZNF341 POLR2A OSR2 WT1 KIZ NKX2-2 RPS15AP1 KIZ-AS1
GH20J021174 Enhancer 0.9 FANTOM5 Ensembl 14.3 +48.7 48718 2.2 KDM6A SAP130 PBX2 NFE2 SMAD4 ZNF511 BCL6 RARA DPF2 THAP11 KIZ RPS15AP1 KIZ-AS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KIZ on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KIZ

Genomic Locations for KIZ Gene

Genomic Locations for KIZ Gene
chr20:21,125,983-21,246,622
(GRCh38/hg38)
Size:
120,640 bases
Orientation:
Plus strand
chr20:21,106,624-21,227,260
(GRCh37/hg19)
Size:
120,637 bases
Orientation:
Plus strand

Genomic View for KIZ Gene

Genes around KIZ on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KIZ Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KIZ Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KIZ Gene

Proteins for KIZ Gene

  • Protein details for KIZ Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q2M2Z5-KIZ_HUMAN
    Recommended name:
    Centrosomal protein kizuna
    Protein Accession:
    Q2M2Z5
    Secondary Accessions:
    • B4DDE9
    • B4DK54
    • Q4G0M8
    • Q4G0S5
    • Q5BKY3
    • Q6P0M6
    • Q71ME0
    • Q9NZ35

    Protein attributes for KIZ Gene

    Size:
    673 amino acids
    Molecular mass:
    75111 Da
    Quaternary structure:
    • Interacts with AKAP9, CEP72, ODF2, PCNT and TUBGCP2.
    Miscellaneous:
    • Kizuna means 'bonds' in Japanese.
    SequenceCaution:
    • Sequence=AAF67652.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAH39296.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAP97689.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAG59066.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for KIZ Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KIZ Gene

Post-translational modifications for KIZ Gene

  • Phosphorylation at Thr-379 by PLK1 is not needed for centrosomal localization or pericentriolar material expansion but is indispensable for spindle-pole stabilization.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for KIZ Gene

Domains & Families for KIZ Gene

Gene Families for KIZ Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for KIZ Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KIZ Gene

GenScript: Design optimal peptide antigens:
  • Polo-like kinase 1 substrate 1 (KIZ_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q2M2Z5

UniProtKB/Swiss-Prot:

KIZ_HUMAN :
  • Belongs to the kizuna family.
Family:
  • Belongs to the kizuna family.
genes like me logo Genes that share domains with KIZ: view

Function for KIZ Gene

Molecular function for KIZ Gene

UniProtKB/Swiss-Prot Function:
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.

Phenotypes From GWAS Catalog for KIZ Gene

Gene Ontology (GO) - Molecular Function for KIZ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16980960
GO:0019901 protein kinase binding IPI 16980960
genes like me logo Genes that share ontologies with KIZ: view
genes like me logo Genes that share phenotypes with KIZ: view

Human Phenotype Ontology for KIZ Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KIZ Gene

MGI Knock Outs for KIZ:
  • Kiz Kiz<tm1.1Cpl>

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for KIZ Gene

Localization for KIZ Gene

Subcellular locations from UniProtKB/Swiss-Prot for KIZ Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, cilium basal body. Note=Localizes to centrosomes throughout the cell cycle. After centrosome duplication, it usually remains associated only with the mother centrosome, containing the older mature centriole and particles surrounding it. During prophase, additional particles accumulate around both separating centrosomes. Does not accumulate at the microtubule minus ends, but instead localizes to the centrosomes and centrosome-surrounding area in a microtubule-independent and dependent manner, respectively. {ECO:0000269 PubMed:24680887}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KIZ gene
Compartment Confidence
cytoskeleton 5
plasma membrane 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for KIZ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IEA,IDA 16980960
GO:0005815 microtubule organizing center IEA --
GO:0005856 cytoskeleton IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with KIZ: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for KIZ Gene

Pathways & Interactions for KIZ Gene

PathCards logo

SuperPathways for KIZ Gene

SuperPathway Contained pathways
1 PLK1 signaling events
genes like me logo Genes that share pathways with KIZ: view

Pathways by source for KIZ Gene

1 BioSystems pathway for KIZ Gene

SIGNOR curated interactions for KIZ Gene

Is activated by:

Gene Ontology (GO) - Biological Process for KIZ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007051 spindle organization IMP,IEA 16980960
genes like me logo Genes that share ontologies with KIZ: view

Drugs & Compounds for KIZ Gene

No Compound Related Data Available

Transcripts for KIZ Gene

mRNA/cDNA for KIZ Gene

7 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KIZ Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13
SP1: -
SP2: - -
SP3:
SP4: - -

Relevant External Links for KIZ Gene

GeneLoc Exon Structure for
KIZ

Expression for KIZ Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KIZ Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for KIZ Gene

This gene is overexpressed in Plasma (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KIZ Gene



Protein tissue co-expression partners for KIZ Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KIZ

Phenotype-based relationships between genes and organs from Gene ORGANizer for KIZ Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • middle ear
  • nose
  • outer ear
  • skull
Pelvis:
  • penis
  • testicle
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with KIZ: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Evidence on tissue expression from TISSUES for KIZ Gene

Orthologs for KIZ Gene

This gene was present in the common ancestor of chordates.

Orthologs for KIZ Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PLK1S1 30
  • 99.16 (n)
dog
(Canis familiaris)
Mammalia PLK1S1 30
  • 84.77 (n)
mouse
(Mus musculus)
Mammalia Plk1s1 30
  • 81.72 (n)
Kiz 17
cow
(Bos Taurus)
Mammalia PLK1S1 30
  • 81.46 (n)
rat
(Rattus norvegicus)
Mammalia Plk1s1 30
  • 81.09 (n)
chicken
(Gallus gallus)
Aves PLK1S1 30
  • 53.41 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.17566 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.10588 30
Species where no ortholog for KIZ was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for KIZ Gene

ENSEMBL:
Gene Tree for KIZ (if available)
TreeFam:
Gene Tree for KIZ (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KIZ: view image

Paralogs for KIZ Gene

No data available for Paralogs for KIZ Gene

Variants for KIZ Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KIZ Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
rs202210819 Pathogenic: Retinitis pigmentosa 69; not provided 21,136,463(+) C/T NONSENSE,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT
rs587777376 Pathogenic: Retinitis pigmentosa 69 21,126,167(+) G/T MISSENSE_VARIANT,NONSENSE,FIVE_PRIME_UTR_VARIANT
rs587777377 Pathogenic: Retinitis pigmentosa 69 21,132,125(+) AAACT/A FRAMESHIFT_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT
rs2236178 - p.Met236Thr
rs4815025 - p.His139Gln

Additional dbSNP identifiers (rs#s) for KIZ Gene

Structural Variations from Database of Genomic Variants (DGV) for KIZ Gene

Variant ID Type Subtype PubMed ID
dgv2411e59 CNV tandem duplication 20981092
esv2662028 CNV deletion 23128226
esv2670444 CNV deletion 23128226
esv29181 CNV loss 19812545
esv3399109 CNV duplication 20981092
esv3451853 CNV duplication 20981092
esv3645479 CNV gain 21293372
esv3645487 CNV loss 21293372
esv3645488 CNV loss 21293372
nsv1125719 CNV tandem duplication 24896259
nsv3326 CNV insertion 18451855
nsv828701 CNV gain 20364138
nsv833940 CNV gain 17160897
nsv979416 CNV duplication 23825009

Additional Variant Information for KIZ Gene

Human Gene Mutation Database (HGMD)
KIZ
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KIZ

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for KIZ Gene

Disorders for KIZ Gene

MalaCards: The human disease database

(3) MalaCards diseases for KIZ Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa 69
  • rp69
retinitis pigmentosa
  • retinitis pigmentosa 1
preretinal fibrosis
  • cellophane maculopathy
- elite association - COSMIC cancer census association via MalaCards
Search KIZ in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KIZ_HUMAN
  • Retinitis pigmentosa 69 (RP69) [MIM:615780]: A 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. {ECO:0000269 PubMed:24680887}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with KIZ: view

No data available for Genatlas for KIZ Gene

Publications for KIZ Gene

  1. The Plk1 target Kizuna stabilizes mitotic centrosomes to ensure spindle bipolarity. (PMID: 16980960) Oshimori N … Yamamoto T (Nature cell biology 2006) 2 3 4 54
  2. Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy. (PMID: 24680887) El Shamieh S … Audo I (American journal of human genetics 2014) 3 4 54
  3. Cep72 regulates the localization of key centrosomal proteins and proper bipolar spindle formation. (PMID: 19536135) Oshimori N … Yamamoto T (The EMBO journal 2009) 3 4 54
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54

Products for KIZ Gene

Sources for KIZ Gene