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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
  • 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. 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 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around KIZ on UCSC Golden Path with GeneCards custom track

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

Proteomics data for KIZ Gene at MOPED

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.
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

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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 --
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

SuperPathways for KIZ Gene

Superpath 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

Interacting Proteins for KIZ Gene

SIGNOR curated interactions for KIZ Gene

Is activated by:

Gene Ontology (GO) - Biological Process for KIZ Gene

None

Drugs & Compounds for KIZ Gene

No Compound Related Data Available

Transcripts for KIZ Gene

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 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



genes like me logo Genes that share expression patterns with KIZ: view

Protein tissue co-expression partners for KIZ Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia PLK1S1 35
  • 81.46 (n)
  • 69.49 (a)
dog
(Canis familiaris)
Mammalia PLK1S1 35
  • 84.77 (n)
  • 73.6 (a)
mouse
(Mus musculus)
Mammalia Plk1s1 35
  • 81.72 (n)
  • 70.51 (a)
Kiz 16
chimpanzee
(Pan troglodytes)
Mammalia PLK1S1 35
  • 99.16 (n)
  • 98.37 (a)
rat
(Rattus norvegicus)
Mammalia Plk1s1 35
  • 81.09 (n)
  • 68.93 (a)
chicken
(Gallus gallus)
Aves PLK1S1 35
  • 53.41 (n)
  • 41.59 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.17566 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.10588 35
Species with no ortholog for KIZ:
  • 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
VAR_034909 -
VAR_034910 -
rs1071809 -- 21,166,163(-) GGACa(A/C/G/T)aaaaa intron-variant
rs1072271 -- 21,170,737(-) gttaa(C/T)ggata intron-variant
rs1127918 -- 21,166,166(-) CATGG(A/G/T)Caaaa intron-variant

Relevant External Links for KIZ Gene

Human Gene Mutation Database (HGMD)
KIZ

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for KIZ Gene

Disorders for KIZ Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
retinitis pigmentosa 69
  • rp69
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 67
  2. A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. (PMID: 26638075) Gupta G.D. … Pelletier L. (Cell 2015) 3
  3. Proximity Interactions among Centrosome Components Identify Regulators of Centriole Duplication. (PMID: 24613305) Firat-Karalar E.N. … Stearns T. (Curr. Biol. 2014) 3
  4. 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
  5. Lupus nephritis susceptibility loci in women with systemic lupus erythematosus. (PMID: 24925725) Chung S.A. … Langefeld C.D. (J. Am. Soc. Nephrol. 2014) 3

Products for KIZ Gene

Sources for KIZ Gene

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