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UniProtKB - Q86SG6 (NEK8_HUMAN)

Protein

Serine/threonine-protein kinase Nek8

Gene

NEK8

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

View the complete GO annotation on QuickGO ...

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
View the complete GO annotation on QuickGO ...

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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000160602.13
HGNCiHGNC:13387 NEK8
MIMi609799 gene
neXtProtiNX_Q86SG6

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:rs118204032EnsemblClinVar.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

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
ProteomicsDBi69588

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 Expressed in 156 organ(s), highest expression level in amniotic fluid
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

Protein-protein interaction databases

BioGridi129755, 31 interactors
CORUMiQ86SG6
IntActiQ86SG6, 38 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

Belongs to the protein kinase superfamily. NEK Ser/Thr protein kinase family. NIMA subfamily.Curated

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

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 4 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
K7EL04K7EL04_HUMAN
Serine/threonine-protein kinase Nek...
NEK8
460Annotation score:
K7EMF0K7EMF0_HUMAN
Serine/threonine-protein kinase Nek...
NEK8
261Annotation score:
K7EPD3K7EPD3_HUMAN
Serine/threonine-protein kinase Nek...
NEK8
165Annotation score:
K7END4K7END4_HUMAN
Serine/threonine-protein kinase Nek...
NEK8
167Annotation score:

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:rs118204032EnsemblClinVar.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

Cross-referencesi

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

3D structure databases

ProteinModelPortaliQ86SG6
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi129755, 31 interactors
CORUMiQ86SG6
IntActiQ86SG6, 38 interactors
STRINGi9606.ENSP00000268766

Chemistry databases

ChEMBLiCHEMBL2417353

PTM databases

iPTMnetiQ86SG6
PhosphoSitePlusiQ86SG6

Polymorphism and mutation databases

BioMutaiNEK8
DMDMi34098463

Proteomic databases

PaxDbiQ86SG6
PeptideAtlasiQ86SG6
PRIDEiQ86SG6
ProteomicsDBi69588

Protocols and materials databases

DNASUi284086
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi284086
DisGeNETi284086
EuPathDBiHostDB:ENSG00000160602.13
GeneCardsiNEK8
HGNCiHGNC:13387 NEK8
HPAiHPA040661
HPA040679
MalaCardsiNEK8
MIMi609799 gene
613824 phenotype
615415 phenotype
neXtProtiNX_Q86SG6
OpenTargetsiENSG00000160602
Orphaneti93591 Infantile nephronophthisis
294415 Renal-hepatic-pancreatic dysplasia
PharmGKBiPA38361
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

SignaLinkiQ86SG6
SIGNORiQ86SG6

Miscellaneous databases

GeneWikiiNEK8
GenomeRNAii284086
PROiPR:Q86SG6
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000160602 Expressed in 156 organ(s), highest expression level in amniotic fluid
CleanExiHS_NEK8
ExpressionAtlasiQ86SG6 baseline and differential
GenevisibleiQ86SG6 HS

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
ProtoNetiSearch...

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: September 12, 2018
This is version 151 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. SIMILARITY comments
    Index of protein domains and families
  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 chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  6. Human and mouse protein kinases
    Human and mouse protein kinases: classification and index
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