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Q8NFD2

- ANKK1_HUMAN

UniProt

Q8NFD2 - ANKK1_HUMAN

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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

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
Complete GO annotation...

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 23-745.
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.
GeneTreeiENSGT00550000074536.
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

        10         20         30         40         50
MAADPTELRL GSLPVFTRDD FEGDWRLVAS GGFSQVFQAR HRRWRTEYAI
60 70 80 90 100
KCAPCLPPDA ASSDVNYLIE EAAKMKKIKF QHIVSIYGVC KQPLGIVMEF
110 120 130 140 150
MANGSLEKVL STHSLCWKLR FRIIHETSLA MNFLHSIKPP LLHLDLKPGN
160 170 180 190 200
ILLDSNMHVK ISDFGLSKWM EQSTRMQYIE RSALRGMLSY IPPEMFLESN
210 220 230 240 250
KAPGPKYDVY SFAIVIWELL TQKKPYSGFN MMMIIIRVAA GMRPSLQPVS
260 270 280 290 300
DQWPSEAQQM VDLMKRCWDQ DPKKRPCFLD ITIETDILLS LLQSRVAVPE
310 320 330 340 350
SKALARKVSC KLSLRQPGEV NEDISQELMD SDSGNYLKRA LQLSDRKNLV
360 370 380 390 400
PRDEELCIYE NKVTPLHFLV AQGSVEQVRL LLAHEVDVDC QTASGYTPLL
410 420 430 440 450
IAAQDQQPDL CALLLAHGAD ANRVDEDGWA PLHFAAQNGD DGTARLLLDH
460 470 480 490 500
GACVDAQERE GWTPLHLAAQ NNFENVARLL VSRQADPNLH EAEGKTPLHV
510 520 530 540 550
AAYFGHVSLV KLLTSQGAEL DAQQRNLRTP LHLAVERGKV RAIQHLLKSG
560 570 580 590 600
AVPDALDQSG YGPLHTAAAR GKYLICKMLL RYGASLELPT HQGWTPLHLA
610 620 630 640 650
AYKGHLEIIH LLAESHANMG ALGAVNWTPL HLAARHGEEA VVSALLQCGA
660 670 680 690 700
DPNAAEQSGW TPLHLAVQRS TFLSVINLLE HHANVHARNK VGWTPAHLAA
710 720 730 740 750
LKGNTAILKV LVEAGAQLDV QDGVSCTPLQ LALRSRKQGI MSFLEGKEPS
760
VATLGGSKPG AEMEI
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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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 23-745.
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.
GeneTreei ENSGT00550000074536.
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

« Hide 'large scale' publications
  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: November 26, 2014
This is version 104 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