KIZ (gene)

KIZ
Identifiers
Aliases	KIZ, C20orf19, Kizuna, NCRNA00153, PLK1S1, RP69, HT013, kizuna centrosomal protein
External IDs	OMIM: 615757; MGI: 2684960; HomoloGene: 10219; GeneCards: KIZ; OMA:KIZ - orthologs
Gene location (Human) Chr. Chromosome 20 (human)[1] Band 20p11.23 Start 21,125,983 bp[1] End 21,246,622 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2|2 G1-G2 Start 146,855,864 bp[2] End 146,970,097 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sperm germinal epithelium Brodmann area 23 parietal pleura tibia lateral nuclear group of thalamus inferior ganglion of vagus nerve mucosa of paranasal sinus spinal ganglia muscle layer of sigmoid colon Top expressed in interventricular septum seminiferous tubule myocardium of ventricle otolith organ utricle spermatid spermatocyte olfactory epithelium Rostral migratory stream otic vesicle More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding protein kinase binding Cellular component cytoplasm centrosome cell projection cytoskeleton microtubule organizing center Biological process spindle organization Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 55857 228730 Ensembl ENSG00000088970 ENSMUSG00000074749 UniProt Q2M2Z5 Q3UXL4 RefSeq (mRNA) NM_001163022 NM_001163023 NM_001276389 NM_018474 NM_001352434 NM_001352435 NM_001352436 NM_001033298 RefSeq (protein) NP_001156494 NP_001156495 NP_001263318 NP_060944 NP_001339363 NP_001339364 NP_001339365 NP_001028470 Location (UCSC) Chr 20: 21.13 – 21.25 Mb Chr 2: 146.86 – 146.97 Mb PubMed search [3] [4]
Wikidata
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Kizuna centrosomal protein is a protein that in humans is encoded by the KIZ gene.^[5]

Function

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. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013].

Clinical significance

Mutations in KIZ cause Rod-cone dystrophy (RCD).^[6]

References

1. GRCh38: Ensembl release 89: ENSG00000088970 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000074749 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: Kizuna centrosomal protein".
6. El Shamieh S, Neuillé M, Terray A, Orhan E, Condroyer C, Démontant V, Michiels C, Antonio A, Boyard F, Lancelot ME, Letexier M, Saraiva JP, Léveillard T, Mohand-Saïd S, Goureau O, Sahel JA, Zeitz C, Audo I (2014). "Whole-Exome Sequencing Identifies KIZ as a Ciliary Gene Associated with Autosomal-Recessive Rod-Cone Dystrophy". Am. J. Hum. Genet. 94 (4): 625–33. doi:10.1016/j.ajhg.2014.03.005. PMC 3980423. PMID 24680887.

Further reading

• Oshimori N, Li X, Ohsugi M, Yamamoto T (2009). "Cep72 regulates the localization of key centrosomal proteins and proper bipolar spindle formation". EMBO J. 28 (14): 2066–76. doi:10.1038/emboj.2009.161. PMC 2718283. PMID 19536135.
• Oshimori N, Ohsugi M, Yamamoto T (2006). "The Plk1 target Kizuna stabilizes mitotic centrosomes to ensure spindle bipolarity". Nat. Cell Biol. 8 (10): 1095–101. doi:10.1038/ncb1474. PMID 16980960. S2CID 7019832.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.