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Protein

Serine/threonine-protein kinase Nek8

Gene

NEK8

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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 (By similarity). Plays a role in organogenesis and is involved in the regulation of the Hippo signaling pathway.By similarity1 Publication

Catalytic activityi

ATP + a protein = ADP + a phosphoprotein.

Cofactori

Mg2+By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei33ATPPROSITE-ProRule annotation1
Active sitei128Proton acceptorPROSITE-ProRule annotation1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi10 – 18ATPPROSITE-ProRule annotation9

GO - Molecular functioni

GO - Biological processi

  • animal organ morphogenesis Source: UniProtKB
  • determination of left/right symmetry Source: Ensembl
  • heart development Source: Ensembl
  • regulation of hippo signaling Source: UniProtKB

Keywordsi

Molecular functionKinase, Serine/threonine-protein kinase, Transferase
LigandATP-binding, Magnesium, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

SignaLinkiQ86SG6.
SIGNORiQ86SG6.

Names & Taxonomyi

Protein namesi
Recommended name:
Serine/threonine-protein kinase Nek8 (EC:2.7.11.1)
Alternative name(s):
Never in mitosis A-related kinase 8
Short name:
NimA-related protein kinase 8
Nima-related protein kinase 12a
Gene namesi
Name:NEK8
Synonyms:JCK, NEK12A
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000160602.13.
HGNCiHGNC:13387. NEK8.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Nephronophthisis 9 (NPHP9)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:613824
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_065769330L → F in NPHP9; a full-length mouse NEK8 construct containing the mutation shows a defect in ciliary localization with no apparent effect on ciliation, mitosis or centriole number. 1 PublicationCorresponds to variant dbSNP:rs199962228Ensembl.1
Natural variantiVAR_065770425H → Y in NPHP9; a full-length mouse NEK8 construct containing the mutation shows a defect in ciliary localization with no apparent effect on ciliation, mitosis or centriole number. 1 PublicationCorresponds to variant dbSNP:rs118204032Ensembl.1
Natural variantiVAR_065771497A → P in NPHP9; a full-length mouse NEK8 construct containing the mutation shows a defect in ciliary localization with no apparent effect on ciliation, mitosis or centriole number. 1 PublicationCorresponds to variant dbSNP:rs146326420Ensembl.1
Renal-hepatic-pancreatic dysplasia 2 (RHPD2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:615415

Keywords - Diseasei

Ciliopathy, Disease mutation, Nephronophthisis

Organism-specific databases

DisGeNETi284086.
MalaCardsiNEK8.
MIMi613824. phenotype.
615415. phenotype.
OpenTargetsiENSG00000160602.
Orphaneti93591. Infantile nephronophthisis.
294415. Renal-hepatic-pancreatic dysplasia.
PharmGKBiPA38361.

Chemistry databases

ChEMBLiCHEMBL2417353.
GuidetoPHARMACOLOGYi2123.

Polymorphism and mutation databases

BioMutaiNEK8.
DMDMi34098463.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000864321 – 692Serine/threonine-protein kinase Nek8Add BLAST692

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei162Phosphothreonine; by autocatalysisBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ86SG6.
PeptideAtlasiQ86SG6.
PRIDEiQ86SG6.

PTM databases

iPTMnetiQ86SG6.
PhosphoSitePlusiQ86SG6.

Expressioni

Tissue specificityi

Highest expression in thyroid, adrenal gland and skin. Low levels in spleen, colon and uterus. Overexpressed in breast tumors, with highest expression in infiltrating ductal carcinomas and moderate levels in mucinous adenocarcinoma.1 Publication

Gene expression databases

BgeeiENSG00000160602.
CleanExiHS_NEK8.
ExpressionAtlasiQ86SG6. baseline and differential.
GenevisibleiQ86SG6. HS.

Organism-specific databases

HPAiHPA040661.
HPA040679.

Interactioni

Subunit structurei

Interacts with PKD2; may regulate PKD2 targeting to the cilium (By similarity). Component of a complex containing at least ANKS6, INVS, NEK8 and NPHP3. ANKS6 may organize complex assembly by linking INVS and NPHP3 to NEK8 and INVS may target the complex to the proximal ciliary axoneme. Interacts with ANKS3 (By similarity).By similarity2 Publications

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi129755. 31 interactors.
CORUMiQ86SG6.
IntActiQ86SG6. 37 interactors.
STRINGi9606.ENSP00000268766.

Structurei

3D structure databases

ProteinModelPortaliQ86SG6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini4 – 258Protein kinasePROSITE-ProRule annotationAdd BLAST255
Repeati312 – 350RCC1 1Add BLAST39
Repeati410 – 461RCC1 2Add BLAST52
Repeati462 – 513RCC1 3Add BLAST52
Repeati580 – 631RCC1 4Add BLAST52
Repeati632 – 684RCC1 5Add BLAST53

Sequence similaritiesi

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG0589. Eukaryota.
ENOG410Y7JF. LUCA.
GeneTreeiENSGT00760000118997.
HOGENOMiHOG000006908.
HOVERGENiHBG098799.
InParanoidiQ86SG6.
KOiK20877.
OrthoDBiEOG091G0GU4.
PhylomeDBiQ86SG6.
TreeFamiTF106472.

Family and domain databases

Gene3Di2.130.10.30. 2 hits.
InterProiView protein in InterPro
IPR011009. Kinase-like_dom_sf.
IPR000719. Prot_kinase_dom.
IPR017441. Protein_kinase_ATP_BS.
IPR009091. RCC1/BLIP-II.
IPR000408. Reg_chr_condens.
IPR008271. Ser/Thr_kinase_AS.
PfamiView protein in Pfam
PF00069. Pkinase. 1 hit.
PF00415. RCC1. 4 hits.
PRINTSiPR00633. RCCNDNSATION.
SMARTiView protein in SMART
SM00220. S_TKc. 1 hit.
SUPFAMiSSF50985. SSF50985. 1 hit.
SSF56112. SSF56112. 1 hit.
PROSITEiView protein in PROSITE
PS00107. PROTEIN_KINASE_ATP. 1 hit.
PS50011. PROTEIN_KINASE_DOM. 1 hit.
PS00108. PROTEIN_KINASE_ST. 1 hit.
PS50012. RCC1_3. 5 hits.

Sequencei

Sequence statusi: Complete.

Q86SG6-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MEKYERIRVV GRGAFGIVHL CLRKADQKLV IIKQIPVEQM TKEERQAAQN
60 70 80 90 100
ECQVLKLLNH PNVIEYYENF LEDKALMIAM EYAPGGTLAE FIQKRCNSLL
110 120 130 140 150
EEETILHFFV QILLALHHVH THLILHRDLK TQNILLDKHR MVVKIGDFGI
160 170 180 190 200
SKILSSKSKA YTVVGTPCYI SPELCEGKPY NQKSDIWALG CVLYELASLK
210 220 230 240 250
RAFEAANLPA LVLKIMSGTF APISDRYSPE LRQLVLSLLS LEPAQRPPLS
260 270 280 290 300
HIMAQPLCIR ALLNLHTDVG SVRMRRAEKS VAPSNTGSRT TSVRCRGIPR
310 320 330 340 350
GPVRPAIPPP LSSVYAWGGG LGTPLRLPML NTEVVQVAAG RTQKAGVTRS
360 370 380 390 400
GRLILWEAPP LGAGGGSLLP GAVEQPQPQF ISRFLEGQSG VTIKHVACGD
410 420 430 440 450
FFTACLTDRG IIMTFGSGSN GCLGHGSLTD ISQPTIVEAL LGYEMVQVAC
460 470 480 490 500
GASHVLALST ERELFAWGRG DSGRLGLGTR ESHSCPQQVP MPPGQEAQRV
510 520 530 540 550
VCGIDSSMIL TVPGQALACG SNRFNKLGLD HLSLGEEPVP HQQVEEALSF
560 570 580 590 600
TLLGSAPLDQ EPLLSIDLGT AHSAAVTASG DCYTFGSNQH GQLGTNTRRG
610 620 630 640 650
SRAPCKVQGL EGIKMAMVAC GDAFTVAIGA ESEVYSWGKG ARGRLGRRDE
660 670 680 690
DAGLPRPVQL DETHPYTVTS VSCCHGNTLL AVRSVTDEPV PP
Length:692
Mass (Da):74,806
Last modified:June 1, 2003 - v1
Checksum:i9E09820DFB3D5CA1
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_065769330L → F in NPHP9; a full-length mouse NEK8 construct containing the mutation shows a defect in ciliary localization with no apparent effect on ciliation, mitosis or centriole number. 1 PublicationCorresponds to variant dbSNP:rs199962228Ensembl.1
Natural variantiVAR_065770425H → Y in NPHP9; a full-length mouse NEK8 construct containing the mutation shows a defect in ciliary localization with no apparent effect on ciliation, mitosis or centriole number. 1 PublicationCorresponds to variant dbSNP:rs118204032Ensembl.1
Natural variantiVAR_065771497A → P in NPHP9; a full-length mouse NEK8 construct containing the mutation shows a defect in ciliary localization with no apparent effect on ciliation, mitosis or centriole number. 1 PublicationCorresponds to variant dbSNP:rs146326420Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY242354 mRNA. Translation: AAO88243.1.
AY267371 mRNA. Translation: AAP04006.1.
AC010761 Genomic DNA. No translation available.
CH471159 Genomic DNA. Translation: EAW51136.1.
BC112240 mRNA. Translation: AAI12241.1.
BC113705 mRNA. Translation: AAI13706.1.
AL833909 mRNA. Translation: CAD38765.1.
CCDSiCCDS32597.1.
RefSeqiNP_835464.1. NM_178170.2.
UniGeneiHs.448468.

Genome annotation databases

EnsembliENST00000268766; ENSP00000268766; ENSG00000160602.
GeneIDi284086.
KEGGihsa:284086.
UCSCiuc002hcp.4. human.

Similar proteinsi

Entry informationi

Entry nameiNEK8_HUMAN
AccessioniPrimary (citable) accession number: Q86SG6
Secondary accession number(s): A6NIC5
, Q14CL7, Q2M1S6, Q8NDH1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 15, 2003
Last sequence update: June 1, 2003
Last modified: November 22, 2017
This is version 145 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human and mouse protein kinases
    Human and mouse protein kinases: classification and index
  6. SIMILARITY comments
    Index of protein domains and families