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KIZ kizuna centrosomal protein [ Homo sapiens (human) ]

Gene ID: 55857, updated on 20-Feb-2017
Official Symbol
KIZprovided by HGNC
Official Full Name
kizuna centrosomal proteinprovided by HGNC
Primary source
HGNC:HGNC:15865
See related
Ensembl:ENSG00000088970 MIM:615757; Vega:OTTHUMG00000032020
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]
Orthologs
Location:
20p11.23
Exon count:
16
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 20 NC_000020.11 (21125980..21246628)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (21106624..21227260)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372556 Neighboring gene ribosomal protein L24 pseudogene 2 Neighboring gene RNA, 5S ribosomal pseudogene 477 Neighboring gene ribosomal protein S15a pseudogene 1 Neighboring gene KIZ antisense RNA 1 Neighboring gene zinc finger protein 877, pseudogene Neighboring gene 5'-3' exoribonuclease 2

Associated conditions

Description Tests
Retinitis pigmentosa 69
MedGen: CN187047 OMIM: 615780 GeneReviews: Not available
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NHGRI GWAS Catalog

Description
Lupus nephritis susceptibility Loci in women with systemic lupus erythematosus.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC102941, MGC141930, DKFZp586H021

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
spindle organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cell projection IEA
Inferred from Electronic Annotation
more info
 
centrosome IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
centrosomal protein kizuna
Names
polo-like kinase 1 substrate 1

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_033122.1 RefSeqGene

    Range
    5001..125638
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon in the 5' coding region, compared to variant 1. This difference causes translation initiation at a downstream AUG, producing isoform (2) with a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AK293166, BC045826, BC090879, DC386700
    Consensus CDS
    CCDS74707.1
    UniProtKB/Swiss-Prot
    Q2M2Z5
    Related
    ENSP00000478019, OTTHUMP00000276248, ENST00000620891, OTTHUMT00000078268
  2. NM_001163023.1NP_001156495.1  centrosomal protein kizuna isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two alternate exons in the 5' coding region, compared to variant 1. This difference causes translation initiation at a downstream AUG, producing isoform (3) with a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AK293166, BC090879, BC105093, DC386700
    Consensus CDS
    CCDS74708.1
    UniProtKB/Swiss-Prot
    Q2M2Z5
    Related
    ENSP00000480612, OTTHUMP00000277790, ENST00000616848, OTTHUMT00000478907
  3. NM_001276389.1NP_001263318.1  centrosomal protein kizuna isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks two alternate 5' coding exons and initiates translation at an alternate upstream start codon compared to variant 1. The resulting isoform (4) has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AK293567, AL121759, BC090879, DC386700
    Consensus CDS
    CCDS74705.1
    UniProtKB/Swiss-Prot
    Q2M2Z5
    UniProtKB/TrEMBL
    A0A087X251, B4DEC7
    Related
    ENSP00000484706, ENST00000619574
  4. NM_018474.4NP_060944.3  centrosomal protein kizuna isoform 1

    See identical proteins and their annotated locations for NP_060944.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AK293166, BC090879, BC105093, DC386700
    Consensus CDS
    CCDS74706.1
    UniProtKB/Swiss-Prot
    Q2M2Z5
    Related
    ENSP00000479542, OTTHUMP00000276250, ENST00000619189, OTTHUMT00000078266

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p7 Primary Assembly

    Range
    21125980..21246628
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011529296.2XP_011527598.1  centrosomal protein kizuna isoform X1

  2. XM_017027952.1XP_016883441.1  centrosomal protein kizuna isoform X6

  3. XM_011529299.2XP_011527601.1  centrosomal protein kizuna isoform X4

  4. XM_017027954.1XP_016883443.1  centrosomal protein kizuna isoform X8

  5. XM_011529297.2XP_011527599.1  centrosomal protein kizuna isoform X2

  6. XM_011529298.2XP_011527600.1  centrosomal protein kizuna isoform X3

  7. XM_017027953.1XP_016883442.1  centrosomal protein kizuna isoform X7

  8. XM_017027951.1XP_016883440.1  centrosomal protein kizuna isoform X5

RNA

  1. XR_937105.2 RNA Sequence

  2. XR_001754334.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018931.2 Alternate CHM1_1.1

    Range
    21107363..21227996
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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