NEK8
entrez
284086
canonical
uniprot
Q86SG6
canonical
ensembl
ENSG00000160602
resolver
ensp
ENSP00000268766
resolver
enst
ENST00000268766
resolver
genesymbol
NEK8
resolver
genesymbol_syn
JCK
resolver
genesymbol_syn
NEK12A
resolver
hgnc
HGNC:13387
resolver
uniprot
A6NIC5
resolver
uniprot
Q14CL7
resolver
uniprot
Q2M1S6
resolver
uniprot
Q8NDH1
resolver
uniprot_entry
NEK8_HUMAN
resolver
uniprot_sec
A6NIC5
resolver
uniprot_sec
Q14CL7
resolver
uniprot_sec
Q2M1S6
resolver
uniprot_sec
Q8NDH1
resolver
amino_acid_sequence
MEKYERIRVVGRGAFGIVHLCLRKADQKLVIIKQIPVEQMTKEERQAAQNECQVLKLLNHPNVIEYYENFLEDKALMIAMEYAPGGTLAEFIQKRCNSLLEEETILHFFVQILLALHHVHTHLILHRDLKTQNILLDKHRMVVKIGDFGISKILSSKSKAYTVVGTPCYISPELCEGKPYNQKSDIWALGCVLYELASLKRAFEAANLPALVLKIMSGTFAPISDRYSPELRQLVLSLLSLEPAQRPPLSHIMAQPLCIRALLNLHTDVGSVRMRRAEKSVAPSNTGSRTTSVRCRGIPRGPVRPAIPPPLSSVYAWGGGLGTPLRLPMLNTEVVQVAAGRTQKAGVTRSGRLILWEAPPLGAGGGSLLPGAVEQPQPQFISRFLEGQSGVTIKHVACGDFFTACLTDRGIIMTFGSGSNGCLGHGSLTDISQPTIVEALLGYEMVQVACGASHVLALSTERELFAWGRGDSGRLGLGTRESHSCPQQVPMPPGQEAQRVVCGIDSSMILTVPGQALACGSNRFNKLGLDHLSLGEEPVPHQQVEEALSFTLLGSAPLDQEPLLSIDLGTAHSAAVTASGDCYTFGSNQHGQLGTNTRRGSRAPCKVQGLEGIKMAMVACGDAFTVAIGAESEVYSWGKGARGRLGRRDEDAGLPRPVQLDETHPYTVTSVSCCHGNTLLAVRSVTDEPVPP
uniprot
proteins
disease_involvement
DISEASE: Nephronophthisis 9 (NPHP9) [MIM:613824]: An autosomal recessive disorder resulting in end-stage renal disease. It is a progressive tubulo-interstitial kidney disorder histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts. {ECO:0000269|PubMed:18199800, ECO:0000269|PubMed:26967905}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Renal-hepatic-pancreatic dysplasia 2 (RHPD2) [MIM:615415]: A form of renal-hepatic-pancreatic dysplasia, a disease characterized by cystic malformations of the kidneys, liver, and pancreas. The pathological findings consist of multicystic dysplastic kidneys, dilated and dysgenetic bile ducts, a dysplastic pancreas with dilated ducts, cysts, fibrosis and inflammatory infiltrates. {ECO:0000269|PubMed:23418306, ECO:0000269|PubMed:26967905}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Polycystic kidney disease 8 (PKD8) [MIM:620903]: A form of polycystic kidney disease, a disorder characterized by progressive formation and enlargement of cysts in both kidneys, typically leading to end-stage renal disease in adult life. Cysts may also occur in other organs, particularly the liver. PKD8 inheritance is autosomal dominant. {ECO:0000269|PubMed:36215968, ECO:0000269|PubMed:37598857}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.11.1
uniprot
proteins
function
FUNCTION: Required for renal tubular integrity. May regulate local cytoskeletal structure in kidney tubule epithelial cells. May regulate ciliary biogenesis through targeting of proteins to the cilia (PubMed:37598857). Plays a role in organogenesis, and is involved in the regulation of the Hippo signaling pathway (PubMed:26967905). {ECO:0000269|PubMed:23418306, ECO:0000269|PubMed:26967905, ECO:0000269|PubMed:37598857}.
uniprot
proteins
mass_dalton
74806
uniprot
proteins
protein_family
NEK Ser/Thr protein kinase family
uniprot
proteins
protein_family
NIMA subfamily
uniprot
proteins
protein_family
Protein kinase superfamily
uniprot
proteins
pubmed
15019993
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18199800
uniprot
proteins
pubmed
23418306
uniprot
proteins
pubmed
23793029
uniprot
proteins
pubmed
26188091
uniprot
proteins
pubmed
26967905
uniprot
proteins
pubmed
36215968
uniprot
proteins
pubmed
37598857
uniprot
proteins
sequence_length
692
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:18199800}. Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:Q91ZR4}. Cell projection, cilium {ECO:0000269|PubMed:18199800}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:18199800}. Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000269|PubMed:26967905}. Note=Predominantly cytoplasmic. Localizes to the proximal region of the primary cilium and is not observed in dividing cells. {ECO:0000250|UniProtKB:Q91ZR4}.
uniprot
proteins