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Q86SG6

- NEK8_HUMAN

UniProt

Q86SG6 - NEK8_HUMAN

Protein

Serine/threonine-protein kinase Nek8

Gene

NEK8

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 116 (01 Oct 2014)
      Sequence version 1 (01 Jun 2003)
      Previous versions | rss
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    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

    Magnesium.By similarity

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Binding sitei33 – 331ATPPROSITE-ProRule annotation
    Active sitei128 – 1281Proton acceptorPROSITE-ProRule annotation

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi10 – 189ATPPROSITE-ProRule annotation

    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

    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

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    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 autocatalysisBy 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.By similarity2 Publications

    Protein-protein interaction databases

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

    Structurei

    3D structure databases

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

    Family & Domainsi

    Domains and Repeats

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

    Sequence similaritiesi

    Contains 1 protein kinase domain.PROSITE-ProRule annotation
    Contains 5 RCC1 repeats.PROSITE-ProRule annotation

    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. 6 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

    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: October 1, 2014
    This is version 116 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