KIZ
entrez
55857
canonical
uniprot
Q2M2Z5
canonical
ensembl
ENSG00000088970
resolver
ensp
ENSP00000478019
resolver
ensp
ENSP00000479542
resolver
ensp
ENSP00000480612
resolver
ensp
ENSP00000483065
resolver
ensp
ENSP00000483644
resolver
ensp
ENSP00000484706
resolver
ensp
ENSP00000632917
resolver
ensp
ENSP00000790608
resolver
ensp
ENSP00000795030
resolver
enst
ENST00000611685
resolver
enst
ENST00000619574
resolver
genesymbol
KIZ
resolver
genesymbol_syn
C20orf19
resolver
genesymbol_syn
NCRNA00153
resolver
genesymbol_syn
PLK1S1
resolver
hgnc
HGNC:15865
resolver
uniprot
A0A087X0T6
resolver
uniprot
A0A087X251
resolver
uniprot
A0ACM8RFG8
resolver
uniprot
B4DDE9
resolver
uniprot
B4DK54
resolver
uniprot
Q4G0M8
resolver
uniprot
Q4G0S5
resolver
uniprot
Q5BKY3
resolver
uniprot
Q6P0M6
resolver
uniprot
Q71ME0
resolver
uniprot
Q9NZ35
resolver
uniprot_entry
A0A087X251_HUMAN
resolver
uniprot_entry
A0ACM8RFG8_HUMAN
resolver
uniprot_entry
KIZ_HUMAN
resolver
uniprot_sec
A0A087X0T6
resolver
uniprot_sec
B4DDE9
resolver
uniprot_sec
B4DK54
resolver
uniprot_sec
Q4G0M8
resolver
uniprot_sec
Q4G0S5
resolver
uniprot_sec
Q5BKY3
resolver
uniprot_sec
Q6P0M6
resolver
uniprot_sec
Q71ME0
resolver
uniprot_sec
Q9NZ35
resolver
amino_acid_sequence
MSRTLASAVPLSSPDYYERLGQLQHGLRDSEKKRLDLEKKLYEYNQSDTCRVKLKYVKLKNYLKEICESEKKAHTRNQEYLKRFERVQAHVVHFTTNTEKLQKLKLEYETQIKKMLCSKDSLGLKEELTDEDREKVAVHEGINSGTAMSRGLYQPATIFMGRQMSAILSMRDFSTEHKSPQPTKNFSIPDPHSHRQTAQSSNVTDSCVVQTSNDTQCLNKSDNIDGKASLQIGEKMPVTASVLSEEEQTHCLEIGSNTRHGKSNLSEGKKSAELNSPLRERLSPENRTTDLKCDSSSGSEGEILTREHIEVEEKRASPPVSPIPVSEYCESENKWSQEKHSPWEGVSDHLAHREPKSQKPFRKMQEEEEESWSTSSDLTISISEDDLILESPEPQPNPGGKMEGEDGIEALKLIHAEQERVALSTEKNCILQTLSSPDSEKESSTNAPTREPGQTPDSDVPRAQVGQHVATLKEHDNSVKEEATALLRKALTEECGRRSAIHSSESSCSLPSILNDNSGIKEAKPAVWLNSVPTREQEVSSGCGDKSKKENVAADIPITETEAYQLLKKATLQDNTNQTENRFQKTDASVSHLSGLNIGSGAFETKTANKIASEASFSSSEGSPLSRHENKKKPVINLKSNALWDESDDSNSEIEAALRPRNHNTDDSDDFYD
uniprot
proteins
disease_involvement
DISEASE: Retinitis pigmentosa 69 (RP69) [MIM:615780]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269|PubMed:24680887}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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. {ECO:0000269|PubMed:16980960}.
uniprot
proteins
mass_dalton
75111
uniprot
proteins
mutagenesis
MUTAGEN 249; /note="T->A: Does not affect phosphorylation status."; /evidence="ECO:0000269|PubMed:16980960"; MUTAGEN 379; /note="T->A: Abolishes phosphorylation by PLK1."; /evidence="ECO:0000269|PubMed:16980960"; MUTAGEN 379; /note="T->E: Phosphomimetic mutant able to partially restore focused bipolar spindles to PLK1-depleted cells that otherwise possess aberrant spindles with diffuse or multiple gamma-tubulin signals."; /evidence="ECO:0000269|PubMed:16980960
uniprot
proteins
post_translational_modification
PTM: Phosphorylation at Thr-379 by PLK1 is not needed for centrosomal localization or pericentriolar material expansion but is indispensable for spindle-pole stabilization. {ECO:0000269|PubMed:16980960}.
uniprot
proteins
protein_family
Kizuna family
uniprot
proteins
pubmed
10931946
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16980960
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19536135
uniprot
proteins
pubmed
24680887
uniprot
proteins
sequence_length
673
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:16980960}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:24680887}. 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. {ECO:0000269|PubMed:24680887}.
uniprot
proteins