Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Q8NFD2

- ANKK1_HUMAN

UniProt

Q8NFD2 - ANKK1_HUMAN

Protein

Ankyrin repeat and protein kinase domain-containing protein 1

Gene

ANKK1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 102 (01 Oct 2014)
      Sequence version 1 (01 Oct 2002)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Functioni

    Catalytic activityi

    ATP + a protein = ADP + a phosphoprotein.

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Binding sitei51 – 511ATPPROSITE-ProRule annotation
    Active sitei145 – 1451Proton acceptorPROSITE-ProRule annotation

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi28 – 369ATPPROSITE-ProRule annotation

    GO - Molecular functioni

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

    Keywords - Molecular functioni

    Kinase, Serine/threonine-protein kinase, Transferase

    Keywords - Ligandi

    ATP-binding, Nucleotide-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Ankyrin repeat and protein kinase domain-containing protein 1 (EC:2.7.11.1)
    Alternative name(s):
    Protein kinase PKK2
    Sugen kinase 288
    Short name:
    SgK288
    X-kinase
    Gene namesi
    Name:ANKK1
    Synonyms:PKK2, SGK288
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:21027. ANKK1.

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134872551.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 765765Ankyrin repeat and protein kinase domain-containing protein 1PRO_0000085620Add
    BLAST

    Proteomic databases

    PaxDbiQ8NFD2.
    PRIDEiQ8NFD2.

    PTM databases

    PhosphoSiteiQ8NFD2.

    Expressioni

    Tissue specificityi

    Highly expressed in brain and weakly expressed in placenta and spinal cord.2 Publications

    Gene expression databases

    BgeeiQ8NFD2.
    CleanExiHS_ANKK1.
    GenevestigatoriQ8NFD2.

    Organism-specific databases

    HPAiHPA012813.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000306678.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8NFD2.
    SMRiQ8NFD2. Positions 23-761.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini22 – 289268Protein kinasePROSITE-ProRule annotationAdd
    BLAST
    Repeati361 – 39030ANK 1Add
    BLAST
    Repeati394 – 42330ANK 2Add
    BLAST
    Repeati427 – 45630ANK 3Add
    BLAST
    Repeati460 – 48930ANK 4Add
    BLAST
    Repeati493 – 52230ANK 5Add
    BLAST
    Repeati526 – 55530ANK 6Add
    BLAST
    Repeati559 – 58830ANK 7Add
    BLAST
    Repeati592 – 62130ANK 8Add
    BLAST
    Repeati625 – 65430ANK 9Add
    BLAST
    Repeati658 – 68730ANK 10Add
    BLAST
    Repeati691 – 72030ANK 11Add
    BLAST
    Repeati724 – 75330ANK 12Add
    BLAST

    Sequence similaritiesi

    Contains 12 ANK repeats.PROSITE-ProRule annotation
    Contains 1 protein kinase domain.PROSITE-ProRule annotation

    Keywords - Domaini

    ANK repeat, Repeat

    Phylogenomic databases

    eggNOGiCOG0515.
    HOGENOMiHOG000294086.
    HOVERGENiHBG061582.
    InParanoidiQ8NFD2.
    KOiK16289.
    OMAiGMRPSLQ.
    OrthoDBiEOG7P02H2.
    PhylomeDBiQ8NFD2.
    TreeFamiTF106506.

    Family and domain databases

    Gene3Di1.25.40.20. 5 hits.
    InterProiIPR002110. Ankyrin_rpt.
    IPR020683. Ankyrin_rpt-contain_dom.
    IPR011009. Kinase-like_dom.
    IPR000719. Prot_kinase_dom.
    IPR001245. Ser-Thr/Tyr_kinase_cat_dom.
    IPR008271. Ser/Thr_kinase_AS.
    [Graphical view]
    PfamiPF00023. Ank. 2 hits.
    PF12796. Ank_2. 4 hits.
    PF07714. Pkinase_Tyr. 1 hit.
    [Graphical view]
    PRINTSiPR01415. ANKYRIN.
    SMARTiSM00248. ANK. 11 hits.
    [Graphical view]
    SUPFAMiSSF48403. SSF48403. 1 hit.
    SSF56112. SSF56112. 1 hit.
    PROSITEiPS50297. ANK_REP_REGION. 1 hit.
    PS50088. ANK_REPEAT. 11 hits.
    PS50011. PROTEIN_KINASE_DOM. 1 hit.
    PS00108. PROTEIN_KINASE_ST. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q8NFD2-1 [UniParc]FASTAAdd to Basket

    « Hide

    MAADPTELRL GSLPVFTRDD FEGDWRLVAS GGFSQVFQAR HRRWRTEYAI    50
    KCAPCLPPDA ASSDVNYLIE EAAKMKKIKF QHIVSIYGVC KQPLGIVMEF 100
    MANGSLEKVL STHSLCWKLR FRIIHETSLA MNFLHSIKPP LLHLDLKPGN 150
    ILLDSNMHVK ISDFGLSKWM EQSTRMQYIE RSALRGMLSY IPPEMFLESN 200
    KAPGPKYDVY SFAIVIWELL TQKKPYSGFN MMMIIIRVAA GMRPSLQPVS 250
    DQWPSEAQQM VDLMKRCWDQ DPKKRPCFLD ITIETDILLS LLQSRVAVPE 300
    SKALARKVSC KLSLRQPGEV NEDISQELMD SDSGNYLKRA LQLSDRKNLV 350
    PRDEELCIYE NKVTPLHFLV AQGSVEQVRL LLAHEVDVDC QTASGYTPLL 400
    IAAQDQQPDL CALLLAHGAD ANRVDEDGWA PLHFAAQNGD DGTARLLLDH 450
    GACVDAQERE GWTPLHLAAQ NNFENVARLL VSRQADPNLH EAEGKTPLHV 500
    AAYFGHVSLV KLLTSQGAEL DAQQRNLRTP LHLAVERGKV RAIQHLLKSG 550
    AVPDALDQSG YGPLHTAAAR GKYLICKMLL RYGASLELPT HQGWTPLHLA 600
    AYKGHLEIIH LLAESHANMG ALGAVNWTPL HLAARHGEEA VVSALLQCGA 650
    DPNAAEQSGW TPLHLAVQRS TFLSVINLLE HHANVHARNK VGWTPAHLAA 700
    LKGNTAILKV LVEAGAQLDV QDGVSCTPLQ LALRSRKQGI MSFLEGKEPS 750
    VATLGGSKPG AEMEI 765
    Length:765
    Mass (Da):84,632
    Last modified:October 1, 2002 - v1
    Checksum:i549F6161B2976BF5
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti4 – 41D → Y.1 Publication
    Corresponds to variant rs35657708 [ dbSNP | Ensembl ].
    VAR_040359
    Natural varianti122 – 1221R → H.1 Publication
    Corresponds to variant rs35877321 [ dbSNP | Ensembl ].
    VAR_040360
    Natural varianti239 – 2391A → T.1 Publication
    Corresponds to variant rs7118900 [ dbSNP | Ensembl ].
    VAR_036784
    Natural varianti276 – 2761P → L.1 Publication
    Corresponds to variant rs35488601 [ dbSNP | Ensembl ].
    VAR_040361
    Natural varianti318 – 3181G → R.1 Publication
    Corresponds to variant rs11604671 [ dbSNP | Ensembl ].
    VAR_036785
    Natural varianti347 – 3471K → T in a breast infiltrating ductal carcinoma sample; somatic mutation. 1 Publication
    VAR_040362
    Natural varianti366 – 3661L → F.1 Publication
    Corresponds to variant rs56339158 [ dbSNP | Ensembl ].
    VAR_040363
    Natural varianti367 – 3671H → Q.1 Publication
    Corresponds to variant rs34298987 [ dbSNP | Ensembl ].
    VAR_040364
    Natural varianti376 – 3761E → K.1 Publication
    Corresponds to variant rs56299709 [ dbSNP | Ensembl ].
    VAR_040365
    Natural varianti426 – 4261E → K.1 Publication
    Corresponds to variant rs55699907 [ dbSNP | Ensembl ].
    VAR_040366
    Natural varianti442 – 4421G → R.1 Publication
    Corresponds to variant rs4938016 [ dbSNP | Ensembl ].
    VAR_036786
    Natural varianti451 – 4511G → R.1 Publication
    Corresponds to variant rs34983219 [ dbSNP | Ensembl ].
    VAR_040367
    Natural varianti490 – 4901H → R.1 Publication
    Corresponds to variant rs2734849 [ dbSNP | Ensembl ].
    VAR_036787
    Natural varianti595 – 5951T → I.1 Publication
    Corresponds to variant rs55787008 [ dbSNP | Ensembl ].
    VAR_040368
    Natural varianti596 – 5961P → L.1 Publication
    Corresponds to variant rs7104979 [ dbSNP | Ensembl ].
    VAR_040369
    Natural varianti653 – 6531N → S.1 Publication
    Corresponds to variant rs55849504 [ dbSNP | Ensembl ].
    VAR_040370
    Natural varianti670 – 6701S → G.1 Publication
    Corresponds to variant rs56006094 [ dbSNP | Ensembl ].
    VAR_040371
    Natural varianti713 – 7131E → K.2 Publications
    Corresponds to variant rs1800497 [ dbSNP | Ensembl ].
    VAR_025010
    Natural varianti717 – 7171Q → L in a lung large cell carcinoma sample; somatic mutation. 1 Publication
    VAR_040372
    Natural varianti736 – 7361R → L in a lung squamous cell carcinoma sample; somatic mutation. 1 Publication
    VAR_040373
    Natural varianti764 – 7641E → K in a lung neuroendocrine carcinoma sample; somatic mutation. 1 Publication
    VAR_040374

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ541797 mRNA. Translation: CAD62569.2.
    AF487542 mRNA. Translation: AAQ09005.1.
    AF525298 Genomic DNA. Translation: AAM91924.1.
    CCDSiCCDS44734.1.
    RefSeqiNP_848605.1. NM_178510.1.
    UniGeneiHs.448473.

    Genome annotation databases

    EnsembliENST00000303941; ENSP00000306678; ENSG00000170209.
    GeneIDi255239.
    KEGGihsa:255239.
    UCSCiuc001pny.3. human.

    Polymorphism databases

    DMDMi74762569.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ541797 mRNA. Translation: CAD62569.2 .
    AF487542 mRNA. Translation: AAQ09005.1 .
    AF525298 Genomic DNA. Translation: AAM91924.1 .
    CCDSi CCDS44734.1.
    RefSeqi NP_848605.1. NM_178510.1.
    UniGenei Hs.448473.

    3D structure databases

    ProteinModelPortali Q8NFD2.
    SMRi Q8NFD2. Positions 23-761.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000306678.

    Chemistry

    BindingDBi Q8NFD2.
    ChEMBLi CHEMBL5547.
    GuidetoPHARMACOLOGYi 1932.

    PTM databases

    PhosphoSitei Q8NFD2.

    Polymorphism databases

    DMDMi 74762569.

    Proteomic databases

    PaxDbi Q8NFD2.
    PRIDEi Q8NFD2.

    Protocols and materials databases

    DNASUi 255239.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000303941 ; ENSP00000306678 ; ENSG00000170209 .
    GeneIDi 255239.
    KEGGi hsa:255239.
    UCSCi uc001pny.3. human.

    Organism-specific databases

    CTDi 255239.
    GeneCardsi GC11P113258.
    HGNCi HGNC:21027. ANKK1.
    HPAi HPA012813.
    MIMi 608774. gene.
    neXtProti NX_Q8NFD2.
    PharmGKBi PA134872551.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0515.
    HOGENOMi HOG000294086.
    HOVERGENi HBG061582.
    InParanoidi Q8NFD2.
    KOi K16289.
    OMAi GMRPSLQ.
    OrthoDBi EOG7P02H2.
    PhylomeDBi Q8NFD2.
    TreeFami TF106506.

    Miscellaneous databases

    GeneWikii ANKK1.
    GenomeRNAii 255239.
    NextBioi 92527.
    PROi Q8NFD2.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q8NFD2.
    CleanExi HS_ANKK1.
    Genevestigatori Q8NFD2.

    Family and domain databases

    Gene3Di 1.25.40.20. 5 hits.
    InterProi IPR002110. Ankyrin_rpt.
    IPR020683. Ankyrin_rpt-contain_dom.
    IPR011009. Kinase-like_dom.
    IPR000719. Prot_kinase_dom.
    IPR001245. Ser-Thr/Tyr_kinase_cat_dom.
    IPR008271. Ser/Thr_kinase_AS.
    [Graphical view ]
    Pfami PF00023. Ank. 2 hits.
    PF12796. Ank_2. 4 hits.
    PF07714. Pkinase_Tyr. 1 hit.
    [Graphical view ]
    PRINTSi PR01415. ANKYRIN.
    SMARTi SM00248. ANK. 11 hits.
    [Graphical view ]
    SUPFAMi SSF48403. SSF48403. 1 hit.
    SSF56112. SSF56112. 1 hit.
    PROSITEi PS50297. ANK_REP_REGION. 1 hit.
    PS50088. ANK_REPEAT. 11 hits.
    PS50011. PROTEIN_KINASE_DOM. 1 hit.
    PS00108. PROTEIN_KINASE_ST. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Identification and characterization of ANKK1: a novel kinase gene closely linked to DRD2 on chromosome band 11q23.1."
      Neville M.J., Johnstone E.C., Walton R.T.
      Hum. Mutat. 23:540-545(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
    2. Inohara N.
      Submitted (FEB-2002) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    3. "The 3' region of the DRD2 gene is involved in genetic susceptibility to schizophrenia."
      Dubertret C., Gouya L., Hanoun N., Deybach J.-C., Ades J., Hamon M., Gorwood P.
      Schizophr. Res. 67:75-85(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], TISSUE SPECIFICITY, VARIANT LYS-713.
    4. Cited for: IDENTIFICATION.
    5. "Patterns of somatic mutation in human cancer genomes."
      Greenman C., Stephens P., Smith R., Dalgliesh G.L., Hunter C., Bignell G., Davies H., Teague J., Butler A., Stevens C., Edkins S., O'Meara S., Vastrik I., Schmidt E.E., Avis T., Barthorpe S., Bhamra G., Buck G.
      , Choudhury B., Clements J., Cole J., Dicks E., Forbes S., Gray K., Halliday K., Harrison R., Hills K., Hinton J., Jenkinson A., Jones D., Menzies A., Mironenko T., Perry J., Raine K., Richardson D., Shepherd R., Small A., Tofts C., Varian J., Webb T., West S., Widaa S., Yates A., Cahill D.P., Louis D.N., Goldstraw P., Nicholson A.G., Brasseur F., Looijenga L., Weber B.L., Chiew Y.-E., DeFazio A., Greaves M.F., Green A.R., Campbell P., Birney E., Easton D.F., Chenevix-Trench G., Tan M.-H., Khoo S.K., Teh B.T., Yuen S.T., Leung S.Y., Wooster R., Futreal P.A., Stratton M.R.
      Nature 446:153-158(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS [LARGE SCALE ANALYSIS] TYR-4; HIS-122; THR-239; LEU-276; ARG-318; THR-347; PHE-366; GLN-367; LYS-376; LYS-426; ARG-442; ARG-451; ARG-490; ILE-595; LEU-596; SER-653; GLY-670; LYS-713; LEU-717; LEU-736 AND LYS-764.

    Entry informationi

    Entry nameiANKK1_HUMAN
    AccessioniPrimary (citable) accession number: Q8NFD2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 24, 2006
    Last sequence update: October 1, 2002
    Last modified: October 1, 2014
    This is version 102 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 11
      Human chromosome 11: 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