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Q86SG6

- NEK8_HUMAN

UniProt

Q86SG6 - NEK8_HUMAN

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Protein

Serine/threonine-protein kinase Nek8

Gene
NEK8, JCK, NEK12A
Organism
Homo sapiens (Human)
Status
Reviewed - 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.1 Publication

Catalytic activityi

ATP + a protein = ADP + a phosphoprotein.

Cofactori

Magnesium By similarity.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei33 – 331ATP By similarity
Active sitei128 – 1281Proton acceptor By similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi10 – 189ATP By similarity

GO - Molecular functioni

  1. ATP binding Source: UniProtKB-KW
  2. metal ion binding Source: UniProtKB-KW
  3. protein binding Source: UniProtKB
  4. protein serine/threonine kinase activity Source: UniProtKB-KW

GO - Biological processi

  1. organ morphogenesis Source: UniProtKB
  2. regulation of hippo signaling Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Kinase, Serine/threonine-protein kinase, Transferase

Keywords - Ligandi

ATP-binding, Magnesium, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

SignaLinkiQ86SG6.

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
ProteomesiUP000005640: Chromosome 17

Organism-specific databases

HGNCiHGNC:13387. NEK8.

Subcellular locationi

Cytoplasm By similarity. Cytoplasmcytoskeleton. Cell projectioncilium By similarity
Note: Predominantly cytoplasmic. Localizes to the proximal region of the primary cilium and is not observed in dividing cells.

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB-SubCell
  2. cytoskeleton Source: UniProtKB-SubCell
  3. primary cilium Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti330 – 3301L → 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 Publication
VAR_065769
Natural varianti425 – 4251H → 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 Publication
VAR_065770
Natural varianti497 – 4971A → 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 Publication
VAR_065771
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication

Keywords - Diseasei

Ciliopathy, Disease mutation, Nephronophthisis

Organism-specific databases

MIMi613824. phenotype.
615415. phenotype.
Orphaneti93591. Infantile autosomal recessive medullary cystic kidney disease.
294415. Renal-hepatic-pancreatic dysplasia.
PharmGKBiPA38361.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 692692Serine/threonine-protein kinase Nek8PRO_0000086432Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei162 – 1621Phosphothreonine; by autocatalysis By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ86SG6.
PRIDEiQ86SG6.

PTM databases

PhosphoSiteiQ86SG6.

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

ArrayExpressiQ86SG6.
BgeeiQ86SG6.
CleanExiHS_NEK8.
GenevestigatoriQ86SG6.

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.2 Publications

Protein-protein interaction databases

BioGridi129755. 6 interactions.
IntActiQ86SG6. 5 interactions.
STRINGi9606.ENSP00000268766.

Structurei

3D structure databases

ProteinModelPortaliQ86SG6.
SMRiQ86SG6. Positions 1-255, 270-680.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini4 – 258255Protein kinaseAdd
BLAST
Repeati312 – 35039RCC1 1Add
BLAST
Repeati410 – 46152RCC1 2Add
BLAST
Repeati462 – 51352RCC1 3Add
BLAST
Repeati580 – 63152RCC1 4Add
BLAST
Repeati632 – 68453RCC1 5Add
BLAST

Sequence similaritiesi

Contains 5 RCC1 repeats.

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiCOG0515.
HOGENOMiHOG000006908.
HOVERGENiHBG098799.
InParanoidiQ86SG6.
KOiK08857.
OMAiTSARCRG.
OrthoDBiEOG7D59P5.
PhylomeDBiQ86SG6.
TreeFamiTF106472.

Family and domain databases

Gene3Di2.130.10.30. 1 hit.
InterProiIPR011009. Kinase-like_dom.
IPR000719. Prot_kinase_dom.
IPR017441. Protein_kinase_ATP_BS.
IPR009091. RCC1/BLIP-II.
IPR000408. Reg_chr_condens.
IPR002290. Ser/Thr_dual-sp_kinase_dom.
IPR008271. Ser/Thr_kinase_AS.
[Graphical view]
PfamiPF00069. Pkinase. 1 hit.
PF00415. RCC1. 4 hits.
[Graphical view]
PRINTSiPR00633. RCCNDNSATION.
SMARTiSM00220. S_TKc. 1 hit.
[Graphical view]
SUPFAMiSSF50985. SSF50985. 1 hit.
SSF56112. SSF56112. 1 hit.
PROSITEiPS00107. PROTEIN_KINASE_ATP. 1 hit.
PS50011. PROTEIN_KINASE_DOM. 1 hit.
PS00108. PROTEIN_KINASE_ST. 1 hit.
PS50012. RCC1_3. 5 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q86SG6-1 [UniParc]FASTAAdd to Basket

« Hide

MEKYERIRVV GRGAFGIVHL CLRKADQKLV IIKQIPVEQM TKEERQAAQN    50
ECQVLKLLNH PNVIEYYENF LEDKALMIAM EYAPGGTLAE FIQKRCNSLL 100
EEETILHFFV QILLALHHVH THLILHRDLK TQNILLDKHR MVVKIGDFGI 150
SKILSSKSKA YTVVGTPCYI SPELCEGKPY NQKSDIWALG CVLYELASLK 200
RAFEAANLPA LVLKIMSGTF APISDRYSPE LRQLVLSLLS LEPAQRPPLS 250
HIMAQPLCIR ALLNLHTDVG SVRMRRAEKS VAPSNTGSRT TSVRCRGIPR 300
GPVRPAIPPP LSSVYAWGGG LGTPLRLPML NTEVVQVAAG RTQKAGVTRS 350
GRLILWEAPP LGAGGGSLLP GAVEQPQPQF ISRFLEGQSG VTIKHVACGD 400
FFTACLTDRG IIMTFGSGSN GCLGHGSLTD ISQPTIVEAL LGYEMVQVAC 450
GASHVLALST ERELFAWGRG DSGRLGLGTR ESHSCPQQVP MPPGQEAQRV 500
VCGIDSSMIL TVPGQALACG SNRFNKLGLD HLSLGEEPVP HQQVEEALSF 550
TLLGSAPLDQ EPLLSIDLGT AHSAAVTASG DCYTFGSNQH GQLGTNTRRG 600
SRAPCKVQGL EGIKMAMVAC GDAFTVAIGA ESEVYSWGKG ARGRLGRRDE 650
DAGLPRPVQL DETHPYTVTS VSCCHGNTLL AVRSVTDEPV PP 692
Length:692
Mass (Da):74,806
Last modified:June 1, 2003 - v1
Checksum:i9E09820DFB3D5CA1
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti330 – 3301L → 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 Publication
VAR_065769
Natural varianti425 – 4251H → 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 Publication
VAR_065770
Natural varianti497 – 4971A → 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 Publication
VAR_065771

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.3. human.

Polymorphism databases

DMDMi34098463.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS32597.1.
RefSeqi NP_835464.1. NM_178170.2.
UniGenei Hs.448468.

3D structure databases

ProteinModelPortali Q86SG6.
SMRi Q86SG6. Positions 1-255, 270-680.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 129755. 6 interactions.
IntActi Q86SG6. 5 interactions.
STRINGi 9606.ENSP00000268766.

Chemistry

ChEMBLi CHEMBL2417353.
GuidetoPHARMACOLOGYi 2123.

PTM databases

PhosphoSitei Q86SG6.

Polymorphism databases

DMDMi 34098463.

Proteomic databases

PaxDbi Q86SG6.
PRIDEi Q86SG6.

Protocols and materials databases

DNASUi 284086.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000268766 ; ENSP00000268766 ; ENSG00000160602 .
GeneIDi 284086.
KEGGi hsa:284086.
UCSCi uc002hcp.3. human.

Organism-specific databases

CTDi 284086.
GeneCardsi GC17P027068.
HGNCi HGNC:13387. NEK8.
HPAi HPA040661.
HPA040679.
MIMi 609799. gene.
613824. phenotype.
615415. phenotype.
neXtProti NX_Q86SG6.
Orphaneti 93591. Infantile autosomal recessive medullary cystic kidney disease.
294415. Renal-hepatic-pancreatic dysplasia.
PharmGKBi PA38361.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0515.
HOGENOMi HOG000006908.
HOVERGENi HBG098799.
InParanoidi Q86SG6.
KOi K08857.
OMAi TSARCRG.
OrthoDBi EOG7D59P5.
PhylomeDBi Q86SG6.
TreeFami TF106472.

Enzyme and pathway databases

SignaLinki Q86SG6.

Miscellaneous databases

GeneWikii NEK8.
GenomeRNAii 284086.
NextBioi 94527.
PROi Q86SG6.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q86SG6.
Bgeei Q86SG6.
CleanExi HS_NEK8.
Genevestigatori Q86SG6.

Family and domain databases

Gene3Di 2.130.10.30. 1 hit.
InterProi IPR011009. Kinase-like_dom.
IPR000719. Prot_kinase_dom.
IPR017441. Protein_kinase_ATP_BS.
IPR009091. RCC1/BLIP-II.
IPR000408. Reg_chr_condens.
IPR002290. Ser/Thr_dual-sp_kinase_dom.
IPR008271. Ser/Thr_kinase_AS.
[Graphical view ]
Pfami PF00069. Pkinase. 1 hit.
PF00415. RCC1. 4 hits.
[Graphical view ]
PRINTSi PR00633. RCCNDNSATION.
SMARTi SM00220. S_TKc. 1 hit.
[Graphical view ]
SUPFAMi SSF50985. SSF50985. 1 hit.
SSF56112. SSF56112. 1 hit.
PROSITEi PS00107. PROTEIN_KINASE_ATP. 1 hit.
PS50011. PROTEIN_KINASE_DOM. 1 hit.
PS00108. PROTEIN_KINASE_ST. 1 hit.
PS50012. RCC1_3. 5 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Huang C.Q., Wu S.L., Yu L.
    Submitted (FEB-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  2. "NIMA-family kinase Nek8 complete human coding region."
    Nedwidek M.N., Roig J., Lenz G., Avruch J.
    Submitted (APR-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  3. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
    Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
    , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
    Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain.
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 445-692.
    Tissue: Testis.
  7. "Nek8, a NIMA family kinase member, is overexpressed in primary human breast tumors."
    Bowers A.J., Boylan J.F.
    Gene 328:135-142(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY.
  8. Cited for: INVOLVEMENT IN RHPD2, FUNCTION, INTERACTION WITH NPHP3.
  9. Cited for: INTERACTION WITH ANKS6; INVS AND NPHP3.
  10. "NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis."
    Otto E.A., Trapp M.L., Schultheiss U.T., Helou J., Quarmby L.M., Hildebrandt F.
    J. Am. Soc. Nephrol. 19:587-592(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS NPHP9 PHE-330; TYR-425 AND PRO-497, CHARACTERIZATION OF VARIANTS NPHP9 PHE-330; TYR-425 AND PRO-497.

Entry informationi

Entry nameiNEK8_HUMAN
AccessioniPrimary (citable) accession number: Q86SG6
Secondary accession number(s): A6NIC5
, Q14CL7, Q2M1S6, Q8NDH1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 15, 2003
Last sequence update: June 1, 2003
Last modified: July 9, 2014
This is version 115 of the entry and version 1 of the sequence. [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

External Data

Dasty 3

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