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)
End	21,246,622 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	146,970,097 bp
RNA expression pattern
	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
	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
	55857
	228730
	ENSG00000088970
	ENSMUSG00000074749
	Q2M2Z5
	Q3UXL4
NM_001163022; NM_001163023; NM_001276389; NM_018474; NM_001352434;
	NM_001352435; NM_001352436
	NM_001033298
NP_001156494; NP_001156495; NP_001263318; NP_060944; NP_001339363;
	NP_001339364; NP_001339365
	NP_001028470
	Wikidata
View/Edit Human	View/Edit Mouse

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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000088970 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000074749 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: Kizuna centrosomal protein".
^ 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.

KIZ (gene)

Contents

Function

Clinical significance

References

Further reading