Human Gene KIZ (ENST00000616848.4) Description and Page Index
  Description: Homo sapiens kizuna centrosomal protein (KIZ), transcript variant 3, mRNA. (from RefSeq NM_001163023)
RefSeq Summary (NM_001163023): 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]. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.304899.1, AK293166.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1966682, SAMEA1968189 [ECO:0000348] ##Evidence-Data-END##
Gencode Transcript: ENST00000616848.4
Gencode Gene: ENSG00000088970.16
Transcript (Including UTRs)
   Position: hg38 chr20:21,126,052-21,246,618 Size: 120,567 Total Exon Count: 11 Strand: +
Coding Region
   Position: hg38 chr20:21,132,154-21,246,576 Size: 114,423 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsRNA-Seq ExpressionMicroarray Expression
RNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA DescriptionsOther Names
GeneReviewsMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr20:21,126,052-21,246,618)mRNA (may differ from genome)Protein (540 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHPRD
LynxMGIneXtProtOMIMPubMedStanford SOURCE
UniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: KIZ_HUMAN
DESCRIPTION: RecName: Full=Centrosomal protein kizuna; AltName: Full=Polo-like kinase 1 substrate 1;
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.
SUBUNIT: Interacts with AKAP9, CEP72, ODF2, PCNT and TUBGCP2.
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, centrosome. 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.
PTM: Phosphorylation at Thr-379 by PLK1 is not needed for centrosomal localization or pericentriolar material expansion but is indispensable for spindle-pole stabilization.
MISCELLANEOUS: Kizuna means 'bonds' in Japanese.
SIMILARITY: Belongs to the kizuna family.
SEQUENCE CAUTION: Sequence=AAF67652.1; Type=Frameshift; Positions=283; Sequence=AAH39296.1; Type=Frameshift; Positions=279; Sequence=AAP97689.1; Type=Frameshift; Positions=198; Sequence=BAG59066.1; Type=Erroneous initiation;

-  MalaCards Disease Associations
  MalaCards Gene Search: KIZ
Diseases sorted by gene-association score: retinitis pigmentosa 69* (919), kiz-related retinitis pigmentosa* (500), retinitis pigmentosa* (39)
* = Manually curated disease association

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 25.38 RPKM in Colon - Sigmoid
Total median expression: 393.58 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -73.90210-0.352 Picture PostScript Text
3' UTR -2.9042-0.069 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR026742 - Centrosomal_kizuma

ModBase Predicted Comparative 3D Structure on Q2M2Z5
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0019901 protein kinase binding

Biological Process:
GO:0007051 spindle organization

Cellular Component:
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0005815 microtubule organizing center
GO:0005856 cytoskeleton
GO:0042995 cell projection


-  Descriptions from all associated GenBank mRNAs
  LF383744 - JP 2014500723-A/191247: Polycomb-Associated Non-Coding RNAs.
MA619321 - JP 2018138019-A/191247: Polycomb-Associated Non-Coding RNAs.
AF451990 - Homo sapiens chromosome 20 unknown mRNA.
BC039296 - Homo sapiens non-protein coding RNA 153, mRNA (cDNA clone IMAGE:5261585), complete cds.
AK293567 - Homo sapiens cDNA FLJ53974 complete cds.
AK293166 - Homo sapiens cDNA FLJ54666 complete cds.
AK025476 - Homo sapiens cDNA: FLJ21823 fis, clone HEP01318, highly similar to AF220187 Homo sapiens uncharacterized hypothalamus protein HT013 mRNA.
BC105093 - Homo sapiens non-protein coding RNA 153, mRNA (cDNA clone MGC:132753 IMAGE:8144096), complete cds.
BC113370 - Homo sapiens non-protein coding RNA 153, mRNA (cDNA clone MGC:141930 IMAGE:8322422), complete cds.
AK295355 - Homo sapiens cDNA FLJ54960 complete cds.
BC045826 - Homo sapiens non-protein coding RNA 153, mRNA (cDNA clone MGC:51171 IMAGE:5262165), complete cds.
HQ258346 - Synthetic construct Homo sapiens clone IMAGE:100072655 Unknown protein gene, encodes complete protein.
KJ899206 - Synthetic construct Homo sapiens clone ccsbBroadEn_08600 PLK1S1 gene, encodes complete protein.
BC065550 - Homo sapiens non-protein coding RNA 153, mRNA (cDNA clone IMAGE:6044235), partial cds.
BC090879 - Homo sapiens non-protein coding RNA 153, mRNA (cDNA clone IMAGE:30393672), partial cds.
BC013055 - Homo sapiens chromosome 20 open reading frame 19, mRNA (cDNA clone IMAGE:3861196), partial cds.
AK296399 - Homo sapiens cDNA FLJ58743 complete cds.
AL110196 - Homo sapiens mRNA; cDNA DKFZp586H021 (from clone DKFZp586H021).
AF220187 - Homo sapiens uncharacterized hypothalamus protein HT013 mRNA, complete cds.
JD061763 - Sequence 42787 from Patent EP1572962.
JD312442 - Sequence 293466 from Patent EP1572962.
JD385087 - Sequence 366111 from Patent EP1572962.
JD128246 - Sequence 109270 from Patent EP1572962.
JD048214 - Sequence 29238 from Patent EP1572962.
JD260012 - Sequence 241036 from Patent EP1572962.
LF349884 - JP 2014500723-A/157387: Polycomb-Associated Non-Coding RNAs.
MA585461 - JP 2018138019-A/157387: Polycomb-Associated Non-Coding RNAs.
JD203269 - Sequence 184293 from Patent EP1572962.
LF349885 - JP 2014500723-A/157388: Polycomb-Associated Non-Coding RNAs.
MA585462 - JP 2018138019-A/157388: Polycomb-Associated Non-Coding RNAs.
AK055105 - Homo sapiens cDNA FLJ30543 fis, clone BRAWH2001406.

-  Other Names for This Gene
  Alternate Gene Symbols: B4DDE9, B4DK54, C20orf19, HT013, KIZ_HUMAN, NCRNA00153, NM_001163023, PLK1S1, Q2M2Z5, Q4G0M8, Q4G0S5, Q5BKY3, Q6P0M6, Q71ME0, Q9NZ35, uc032pdo.1, uc032pdo.2
UCSC ID: uc032pdo.2
RefSeq Accession: NM_001163023
Protein: Q2M2Z5 (aka KIZ_HUMAN)
CCDS: CCDS74708.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene KIZ:
rp-overview (Nonsyndromic Retinitis Pigmentosa Overview)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.