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Aliases for KIZ Gene

Aliases for KIZ Gene

  • Kizuna Centrosomal Protein 2 3 5
  • Polo-Like Kinase 1 Substrate 1 2 3 4
  • NCRNA00153 3 4
  • C20orf19 3 4
  • PLK1S1 3 4
  • Chromosome 20 Open Reading Frame 19 2
  • Non-Protein Coding RNA 153 2
  • Centrosomal Protein Kizuna 3
  • 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 Kiz-Related Retinitis Pigmentosa. Among its related pathways are PLK1 signaling events. GO annotations related to this gene include protein kinase binding.

UniProtKB/Swiss-Prot 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.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KIZ Gene

Genomics for KIZ Gene

Regulatory Elements for KIZ Gene

Enhancers for KIZ Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20G021234 2.6 VISTA Ensembl ENCODE 13.7 +109.4 109391 2.4 FOXA2 ZNF48 RAD21 ZNF143 MIXL1 ZNF654 ZNF362 HCFC1 CEBPB REST KIZ GC20P021240 KIZ-AS1
GH20G021124 1.1 ENCODE 21.6 +0.3 262 2.5 PKNOX1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 SLC30A9 ZNF143 FOS SP3 KIZ RNA5SP477
GH20G021189 1.4 FANTOM5 ENCODE dbSUPER 14.3 +65.1 65074 4.1 PKNOX1 FEZF1 GLIS2 ZSCAN5C OVOL3 ZEB2 REST ZNF843 PRDM6 ZNF341 KIZ NKX2-2 RPS15AP1 KIZ-AS1
GH20G021182 1.1 Ensembl ENCODE 14.3 +57.3 57305 1.9 PKNOX1 JUN INSM2 KLF17 BRCA1 ZNF664 HIC1 ZNF366 ZSCAN5C SCRT2 KIZ RPS15AP1 KIZ-AS1
GH20G021166 0.5 FANTOM5 14.3 +40.8 40829 0.4 MAX EBF1 KIZ RPS15AP1 KIZ-AS1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KIZ on UCSC Golden Path with GeneCards custom track

Promoters for KIZ Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000135470 117 1801 PKNOX1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 SLC30A9 ZNF143 FOS SP3

Genomic Location for KIZ Gene

Chromosome:
20
Start:
21,125,983 bp from pter
End:
21,246,622 bp from pter
Size:
120,640 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; Positions=283; Evidence={ECO:0000305}; Sequence=AAH39296.1; Type=Frameshift; Positions=279; Evidence={ECO:0000305}; Sequence=AAP97689.1; Type=Frameshift; Positions=198; 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

Protein Domains for KIZ Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KIZ Gene

GenScript: Design optimal peptide antigens:

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

No data available for Gene Families for KIZ Gene

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.

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:

Animal Model Products

Inhibitory RNA 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}.

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 COMPARTMENTS for KIZ Gene

Pathways & Interactions 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

Inhibitory RNA 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
ECgene alternative splicing isoforms for
KIZ

Expression for KIZ Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of KIZ Gene:

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
Organs:
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

Primer Products

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 34
  • 99.16 (n)
dog
(Canis familiaris)
Mammalia PLK1S1 34
  • 84.77 (n)
mouse
(Mus musculus)
Mammalia Plk1s1 34
  • 81.72 (n)
Kiz 16
cow
(Bos Taurus)
Mammalia PLK1S1 34
  • 81.46 (n)
rat
(Rattus norvegicus)
Mammalia Plk1s1 34
  • 81.09 (n)
chicken
(Gallus gallus)
Aves PLK1S1 34
  • 53.41 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.17566 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.10588 34
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)

Paralogs for KIZ Gene

No data available for Paralogs for KIZ Gene

Variants for KIZ Gene

Sequence variations from dbSNP and Humsavar for KIZ Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs202210819 Pathogenic 21,136,463(+) ATACT(C/T)GAAAC intron-variant, nc-transcript-variant, reference, stop-gained, utr-variant-5-prime
rs587777376 Pathogenic 21,126,167(+) ACTAC(G/T)AGAGG nc-transcript-variant, reference, missense, stop-gained, utr-variant-5-prime
rs587777377 Pathogenic 21,132,126(+) AAAGA(-/AACT)TTATG intron-variant, nc-transcript-variant, reference, frameshift-variant, utr-variant-5-prime
rs1000018811 -- 21,203,621(+) CATTT(A/G)TTGGA intron-variant
rs1000045549 -- 21,147,430(+) AAATC(A/T)TGTTT intron-variant

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

Relevant External Links for KIZ Gene

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

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, GeneTests, Orphanet, and GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa 69
  • rp69
kiz-related retinitis pigmentosa
  • retinitis pigmentosa 69
retinitis pigmentosa
  • retinitis pigmentosa 1
- 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.

Relevant External Links for KIZ

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KIZ
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. (Nat. Cell Biol. 2006) 2 3 4 64
  2. Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy. (PMID: 24680887) El Shamieh S. … Audo I. (Am. J. Hum. Genet. 2014) 3 4 64
  3. Cep72 regulates the localization of key centrosomal proteins and proper bipolar spindle formation. (PMID: 19536135) Oshimori N. … Yamamoto T. (EMBO J. 2009) 3 4 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. (PMID: 26638075) Gupta G.D. … Pelletier L. (Cell 2015) 3 64

Products for KIZ Gene

Sources for KIZ Gene

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