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    KIZ kizuna centrosomal protein [ Homo sapiens (human) ]

    Gene ID: 55857, updated on 10-Dec-2024

    Summary

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    Official Symbol
    KIZprovided by HGNC
    Official Full Name
    kizuna centrosomal proteinprovided by HGNC
    Primary source
    HGNC:HGNC:15865
    See related
    Ensembl:ENSG00000088970 MIM:615757; AllianceGenome:HGNC:15865
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RP69; HT013; Kizuna; PLK1S1; C20orf19; NCRNA00153
    Summary
    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]
    Expression
    Broad expression in testis (RPKM 20.1), ovary (RPKM 11.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See KIZ in Genome Data Viewer
    Location:
    20p11.23
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (21125975..21246622)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (21186759..21305970)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (21106616..21227260)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr20:21070570-21071121 Neighboring gene Sharpr-MPRA regulatory region 9877 Neighboring gene long intergenic non-protein coding RNA 237 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:21081423-21082292 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17616 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:21098327-21099526 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17617 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12713 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17618 Neighboring gene RPL24 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17619 Neighboring gene RNA, 5S ribosomal pseudogene 477 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:21161538-21162038 Neighboring gene ribosomal protein S15a pseudogene 1 Neighboring gene hESC enhancers GRCh37_chr20:21170163-21171136 and GRCh37_chr20:21171137-21172110 Neighboring gene KIZ antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:21204767-21205280 Neighboring gene VISTA enhancer hs914 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17620 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12714 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17621 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17622 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17623 Neighboring gene zinc finger protein 877, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:21272495-21272995 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12715 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17624 Neighboring gene 5'-3' exoribonuclease 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Genetic and Clinical Analyses of the KIZ-c.226C>T Variant Resulting in a Dual Mutational Mechanism. Sundaresan Y, et al. Genes (Basel), 2024 Jun 18. PMID 38927740, Free PMC Article
    2. Progressive RPE atrophy and photoreceptor death in KIZ-associated autosomal recessive retinitis pigmentosa. Lin Y, et al. Ophthalmic Genet, 2020 Feb. PMID 32052671, Free PMC Article
    3. Kizuna is a novel mitotic substrate for CDC25B phosphatase. Thomas Y, et al. Cell Cycle, 2014. PMID 25558830, Free PMC Article
    4. Long non‑coding RNA PLK1S1 was associated with renal cell carcinoma progression by interacting with microRNA‑653 and altering C‑X‑C chemokine receptor 5 expression. Li W, et al. Oncol Rep, 2020 Nov. PMID 33000253, Free PMC Article
    5. Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy. El Shamieh S, et al. Am J Hum Genet, 2014 Apr 3. PMID 24680887, Free PMC Article

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Genetic and Clinical Analyses of the KIZ-c.226C>T Variant Resulting in a Dual Mutational Mechanism.
      Title: Genetic and Clinical Analyses of the KIZ-c.226C>T Variant Resulting in a Dual Mutational Mechanism.
    2. Long noncoding RNA PLK1S1 was associated with renal cell carcinoma progression by interacting with microRNA653 and altering CXC chemokine receptor 5 expression.
      Title: Long non‑coding RNA PLK1S1 was associated with renal cell carcinoma progression by interacting with microRNA‑653 and altering C‑X‑C chemokine receptor 5 expression.
    3. Progressive RPE atrophy and photoreceptor death in KIZ-associated autosomal recessive retinitis pigmentosa.
      Title: Progressive RPE atrophy and photoreceptor death in KIZ-associated autosomal recessive retinitis pigmentosa.
    4. Kiz phosphorylation depends on a balance between CDC25B and Plk1 activities.
      Title: Kizuna is a novel mitotic substrate for CDC25B phosphatase.
    5. Immunohistology revealed KIZ localization at the basal body of the cilia in human fibroblasts, thus shedding light on another ciliary protein implicated in autosomal-recessive RCD
      Title: Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Retinitis pigmentosa 69
    MedGen: C4014312 OMIM: 615780 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Lupus nephritis susceptibility Loci in women with systemic lupus erythematosus.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC102941, MGC141930, DKFZp586H021

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in spindle organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in spindle organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    centrosomal protein kizuna
    Names
    polo-like kinase 1 substrate 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_033122.2 RefSeqGene

      Range
      5103..125643
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001163022.3 → NP_001156494.1  centrosomal protein kizuna isoform 2

      Status: REVIEWED

      Source sequence(s)
      AK293166, BC045826, BC090879, DC386700
      Consensus CDS
      CCDS74707.1
      UniProtKB/TrEMBL
      B4DEC7
      Related
      ENSP00000478019.1, ENST00000620891.4

    2. NM_001163023.3 → NP_001156495.1  centrosomal protein kizuna isoform 3

      Status: REVIEWED

      Source sequence(s)
      AK293166, BC090879, BC105093
      Consensus CDS
      CCDS74708.1
      UniProtKB/TrEMBL
      B4DEC7
      Related
      ENSP00000480612.1, ENST00000616848.4

    3. NM_001276389.2 → NP_001263318.1  centrosomal protein kizuna isoform 4

      Status: REVIEWED

      Source sequence(s)
      AK293567, AL121759, BC090879, DC386700
      Consensus CDS
      CCDS74705.1
      UniProtKB/TrEMBL
      A0A087X0T6, A0A087X251
      Related
      ENSP00000484706.1, ENST00000619574.4

    4. NM_001352434.2 → NP_001339363.1  centrosomal protein kizuna isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL110120, AL117332, AL121759, BC090879, KF459716
      UniProtKB/TrEMBL
      B4DEC7

    5. NM_001352435.2 → NP_001339364.1  centrosomal protein kizuna isoform 6

      Status: REVIEWED

      Source sequence(s)
      AL110120, AL117332, AL121759, BC090879, KF459716
      UniProtKB/TrEMBL
      B4DEC7

    6. NM_001352436.2 → NP_001339365.1  centrosomal protein kizuna isoform 7

      Status: REVIEWED

      Source sequence(s)
      AL110120, AL117332, AL121759, BC090879, KF459716
      UniProtKB/TrEMBL
      B4DEC7

    7. NM_018474.6 → NP_060944.3  centrosomal protein kizuna isoform 1

      See identical proteins and their annotated locations for NP_060944.3

      Status: REVIEWED

      Source sequence(s)
      AK293166, BC090879, BC105093
      Consensus CDS
      CCDS74706.1
      UniProtKB/Swiss-Prot
      B4DDE9, B4DK54, Q2M2Z5, Q4G0M8, Q4G0S5, Q5BKY3, Q6P0M6, Q71ME0, Q9NZ35
      UniProtKB/TrEMBL
      B4DEC7
      Related
      ENSP00000479542.1, ENST00000619189.5

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      21125975..21246622
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011529296.4 → XP_011527598.1  centrosomal protein kizuna isoform X1

    2. XM_011529297.4 → XP_011527599.1  centrosomal protein kizuna isoform X2

    3. XM_011529299.4 → XP_011527601.1  centrosomal protein kizuna isoform X3

      UniProtKB/TrEMBL
      B4DEC7

    4. XM_047440292.1 → XP_047296248.1  centrosomal protein kizuna isoform X4

      UniProtKB/TrEMBL
      B4DEC7
      Related
      ENSP00000483065.1, ENST00000616679.4

    RNA

    1. XR_937105.4 RNA Sequence

    2. XR_001754334.3 RNA Sequence

    3. XR_007067468.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      21186759..21305970
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054323688.1 → XP_054179663.1  centrosomal protein kizuna isoform X1

    2. XM_054323689.1 → XP_054179664.1  centrosomal protein kizuna isoform X2

    3. XM_054323690.1 → XP_054179665.1  centrosomal protein kizuna isoform X3

      UniProtKB/TrEMBL
      B4DEC7

    4. XM_054323691.1 → XP_054179666.1  centrosomal protein kizuna isoform X4

      UniProtKB/TrEMBL
      B4DEC7

    RNA

    1. XR_008485278.1 RNA Sequence

    2. XR_008485277.1 RNA Sequence

    3. XR_008485279.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q2M2Z5.2 GenPept UniProtKB/Swiss-Prot:Q2M2Z5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Molecular Biology Databases
    Research Materials