KIZ
Centrosomal protein kizuna
Also known as: C20orf19, HT013, KIZ_HUMAN, NCRNA00153, PLK1S1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q2M2Z5
- Gene
- KIZ
- Ensembl
- ENSG00000088970
- Chromosome
- 20
- Canonical length
- 673 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
673 residues, UniProt reviewed canonical sequence.
>Q2M2Z5|KIZ
1 MSRTLASAVP LSSPDYYERL GQLQHGLRDS EKKRLDLEKK LYEYNQSDTC RVKLKYVKLK
61 NYLKEICESE KKAHTRNQEY LKRFERVQAH VVHFTTNTEK LQKLKLEYET QIKKMLCSKD
121 SLGLKEELTD EDREKVAVHE GINSGTAMSR GLYQPATIFM GRQMSAILSM RDFSTEHKSP
181 QPTKNFSIPD PHSHRQTAQS SNVTDSCVVQ TSNDTQCLNK SDNIDGKASL QIGEKMPVTA
241 SVLSEEEQTH CLEIGSNTRH GKSNLSEGKK SAELNSPLRE RLSPENRTTD LKCDSSSGSE
301 GEILTREHIE VEEKRASPPV SPIPVSEYCE SENKWSQEKH SPWEGVSDHL AHREPKSQKP
361 FRKMQEEEEE SWSTSSDLTI SISEDDLILE SPEPQPNPGG KMEGEDGIEA LKLIHAEQER
421 VALSTEKNCI LQTLSSPDSE KESSTNAPTR EPGQTPDSDV PRAQVGQHVA TLKEHDNSVK
481 EEATALLRKA LTEECGRRSA IHSSESSCSL PSILNDNSGI KEAKPAVWLN SVPTREQEVS
541 SGCGDKSKKE NVAADIPITE TEAYQLLKKA TLQDNTNQTE NRFQKTDASV SHLSGLNIGS
601 GAFETKTANK IASEASFSSS EGSPLSRHEN KKKPVINLKS NALWDESDDS NSEIEAALRP
661 RNHNTDDSDD FYDLocalizationUniProt · AlphaFold · HPA
Whether an antibody against KIZ can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.68
- Highest tissue expression
- 69 nTPM
Expression across tissuesHPA
Tissue
- colon: 69 nTPM
- testis: 42 nTPM
- urinary bladder: 39 nTPM
- ovary: 34 nTPM
- spinal cord: 31 nTPM
- cervix: 29 nTPM
Single-cell type
- oligodendrocyte progenitor cells: 299 nCPM
- early spermatids: 290 nCPM
- renal collecting duct principal cells: 253 nCPM
- lactotrophs: 211 nCPM
- oligodendrocytes: 211 nCPM
- thyrotrophs: 205 nCPM
Immune cell
- neutrophil: 17 nTPM
- T-reg: 14 nTPM
- naive CD8 T-cell: 13 nTPM
- eosinophil: 13 nTPM
- MAIT T-cell: 12 nTPM
- memory B-cell: 12 nTPM
Brain region
- white matter: 57 nTPM
- pons: 48 nTPM
- basal ganglia: 44 nTPM
- medulla oblongata: 44 nTPM
- thalamus: 40 nTPM
- midbrain: 40 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about KIZ.
Disease | AllUniProt
Conditions KIZ is implicated in, by any mechanism.
- Retinitis pigmentosa 69 (RP69) MIM:615780
Disease | GeneticClinVar
53 pathogenic / likely-pathogenic of 507 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Retinitis pigmentosa 69
- Retinal dystrophy
- Retinitis pigmentosa
- KIZ-related retinopathy
- KIZ-related disorder
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Centrosomal protein kizuna
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of KIZ in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads KIZ as an antibody target. Whether an autoantibody or antibody against KIZ could matter depends on whether native KIZ is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
KIZ is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label KIZ as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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