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Q8NFD2 (ANKK1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 101. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:ANKK1
Synonyms:PKK2, SGK288
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length765 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Catalytic activity

ATP + a protein = ADP + a phosphoprotein.

Tissue specificity

Highly expressed in brain and weakly expressed in placenta and spinal cord. Ref.1 Ref.3

Sequence similarities

Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family.

Contains 12 ANK repeats.

Contains 1 protein kinase domain.

Ontologies

Keywords
   Coding sequence diversityPolymorphism
   DomainANK repeat
Repeat
   LigandATP-binding
Nucleotide-binding
   Molecular functionKinase
Serine/threonine-protein kinase
Transferase
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Molecular_functionATP binding

Inferred from electronic annotation. Source: UniProtKB-KW

protein serine/threonine kinase activity

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 765765Ankyrin repeat and protein kinase domain-containing protein 1
PRO_0000085620

Regions

Domain22 – 289268Protein kinase
Repeat361 – 39030ANK 1
Repeat394 – 42330ANK 2
Repeat427 – 45630ANK 3
Repeat460 – 48930ANK 4
Repeat493 – 52230ANK 5
Repeat526 – 55530ANK 6
Repeat559 – 58830ANK 7
Repeat592 – 62130ANK 8
Repeat625 – 65430ANK 9
Repeat658 – 68730ANK 10
Repeat691 – 72030ANK 11
Repeat724 – 75330ANK 12
Nucleotide binding28 – 369ATP By similarity

Sites

Active site1451Proton acceptor By similarity
Binding site511ATP By similarity

Natural variations

Natural variant41D → Y. Ref.5
Corresponds to variant rs35657708 [ dbSNP | Ensembl ].
VAR_040359
Natural variant1221R → H. Ref.5
Corresponds to variant rs35877321 [ dbSNP | Ensembl ].
VAR_040360
Natural variant2391A → T. Ref.5
Corresponds to variant rs7118900 [ dbSNP | Ensembl ].
VAR_036784
Natural variant2761P → L. Ref.5
Corresponds to variant rs35488601 [ dbSNP | Ensembl ].
VAR_040361
Natural variant3181G → R. Ref.5
Corresponds to variant rs11604671 [ dbSNP | Ensembl ].
VAR_036785
Natural variant3471K → T in a breast infiltrating ductal carcinoma sample; somatic mutation. Ref.5
VAR_040362
Natural variant3661L → F. Ref.5
Corresponds to variant rs56339158 [ dbSNP | Ensembl ].
VAR_040363
Natural variant3671H → Q. Ref.5
Corresponds to variant rs34298987 [ dbSNP | Ensembl ].
VAR_040364
Natural variant3761E → K. Ref.5
Corresponds to variant rs56299709 [ dbSNP | Ensembl ].
VAR_040365
Natural variant4261E → K. Ref.5
Corresponds to variant rs55699907 [ dbSNP | Ensembl ].
VAR_040366
Natural variant4421G → R. Ref.5
Corresponds to variant rs4938016 [ dbSNP | Ensembl ].
VAR_036786
Natural variant4511G → R. Ref.5
Corresponds to variant rs34983219 [ dbSNP | Ensembl ].
VAR_040367
Natural variant4901H → R. Ref.5
Corresponds to variant rs2734849 [ dbSNP | Ensembl ].
VAR_036787
Natural variant5951T → I. Ref.5
Corresponds to variant rs55787008 [ dbSNP | Ensembl ].
VAR_040368
Natural variant5961P → L. Ref.5
Corresponds to variant rs7104979 [ dbSNP | Ensembl ].
VAR_040369
Natural variant6531N → S. Ref.5
Corresponds to variant rs55849504 [ dbSNP | Ensembl ].
VAR_040370
Natural variant6701S → G. Ref.5
Corresponds to variant rs56006094 [ dbSNP | Ensembl ].
VAR_040371
Natural variant7131E → K. Ref.3 Ref.5
Corresponds to variant rs1800497 [ dbSNP | Ensembl ].
VAR_025010
Natural variant7171Q → L in a lung large cell carcinoma sample; somatic mutation. Ref.5
VAR_040372
Natural variant7361R → L in a lung squamous cell carcinoma sample; somatic mutation. Ref.5
VAR_040373
Natural variant7641E → K in a lung neuroendocrine carcinoma sample; somatic mutation. Ref.5
VAR_040374

Sequences

Sequence LengthMass (Da)Tools
Q8NFD2 [UniParc].

Last modified October 1, 2002. Version 1.
Checksum: 549F6161B2976BF5

FASTA76584,632
        10         20         30         40         50         60 
MAADPTELRL GSLPVFTRDD FEGDWRLVAS GGFSQVFQAR HRRWRTEYAI KCAPCLPPDA 

        70         80         90        100        110        120 
ASSDVNYLIE EAAKMKKIKF QHIVSIYGVC KQPLGIVMEF MANGSLEKVL STHSLCWKLR 

       130        140        150        160        170        180 
FRIIHETSLA MNFLHSIKPP LLHLDLKPGN ILLDSNMHVK ISDFGLSKWM EQSTRMQYIE 

       190        200        210        220        230        240 
RSALRGMLSY IPPEMFLESN KAPGPKYDVY SFAIVIWELL TQKKPYSGFN MMMIIIRVAA 

       250        260        270        280        290        300 
GMRPSLQPVS DQWPSEAQQM VDLMKRCWDQ DPKKRPCFLD ITIETDILLS LLQSRVAVPE 

       310        320        330        340        350        360 
SKALARKVSC KLSLRQPGEV NEDISQELMD SDSGNYLKRA LQLSDRKNLV PRDEELCIYE 

       370        380        390        400        410        420 
NKVTPLHFLV AQGSVEQVRL LLAHEVDVDC QTASGYTPLL IAAQDQQPDL CALLLAHGAD 

       430        440        450        460        470        480 
ANRVDEDGWA PLHFAAQNGD DGTARLLLDH GACVDAQERE GWTPLHLAAQ NNFENVARLL 

       490        500        510        520        530        540 
VSRQADPNLH EAEGKTPLHV AAYFGHVSLV KLLTSQGAEL DAQQRNLRTP LHLAVERGKV 

       550        560        570        580        590        600 
RAIQHLLKSG AVPDALDQSG YGPLHTAAAR GKYLICKMLL RYGASLELPT HQGWTPLHLA 

       610        620        630        640        650        660 
AYKGHLEIIH LLAESHANMG ALGAVNWTPL HLAARHGEEA VVSALLQCGA DPNAAEQSGW 

       670        680        690        700        710        720 
TPLHLAVQRS TFLSVINLLE HHANVHARNK VGWTPAHLAA LKGNTAILKV LVEAGAQLDV 

       730        740        750        760 
QDGVSCTPLQ LALRSRKQGI MSFLEGKEPS VATLGGSKPG AEMEI 

« Hide

References

« Hide 'large scale' references
[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]"The protein kinase complement of the human genome."
Manning G., Whyte D.B., Martinez R., Hunter T., Sudarsanam S.
Science 298:1912-1934(2002) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AJ541797 mRNA. Translation: CAD62569.2.
AF487542 mRNA. Translation: AAQ09005.1.
AF525298 Genomic DNA. Translation: AAM91924.1.
CCDSCCDS44734.1.
RefSeqNP_848605.1. NM_178510.1.
UniGeneHs.448473.

3D structure databases

ProteinModelPortalQ8NFD2.
SMRQ8NFD2. Positions 23-761.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000306678.

Chemistry

BindingDBQ8NFD2.
ChEMBLCHEMBL5547.
GuidetoPHARMACOLOGY1932.

PTM databases

PhosphoSiteQ8NFD2.

Polymorphism databases

DMDM74762569.

Proteomic databases

PaxDbQ8NFD2.
PRIDEQ8NFD2.

Protocols and materials databases

DNASU255239.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000303941; ENSP00000306678; ENSG00000170209.
GeneID255239.
KEGGhsa:255239.
UCSCuc001pny.3. human.

Organism-specific databases

CTD255239.
GeneCardsGC11P113258.
HGNCHGNC:21027. ANKK1.
HPAHPA012813.
MIM608774. gene.
neXtProtNX_Q8NFD2.
PharmGKBPA134872551.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0515.
HOGENOMHOG000294086.
HOVERGENHBG061582.
InParanoidQ8NFD2.
KOK16289.
OMAGMRPSLQ.
OrthoDBEOG7P02H2.
PhylomeDBQ8NFD2.
TreeFamTF106506.

Gene expression databases

BgeeQ8NFD2.
CleanExHS_ANKK1.
GenevestigatorQ8NFD2.

Family and domain databases

Gene3D1.25.40.20. 5 hits.
InterProIPR002110. 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]
PfamPF00023. Ank. 2 hits.
PF12796. Ank_2. 4 hits.
PF07714. Pkinase_Tyr. 1 hit.
[Graphical view]
PRINTSPR01415. ANKYRIN.
SMARTSM00248. ANK. 11 hits.
[Graphical view]
SUPFAMSSF48403. SSF48403. 1 hit.
SSF56112. SSF56112. 1 hit.
PROSITEPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 11 hits.
PS50011. PROTEIN_KINASE_DOM. 1 hit.
PS00108. PROTEIN_KINASE_ST. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiANKK1.
GenomeRNAi255239.
NextBio92527.
PROQ8NFD2.
SOURCESearch...

Entry information

Entry nameANKK1_HUMAN
AccessionPrimary (citable) accession number: Q8NFD2
Entry history
Integrated into UniProtKB/Swiss-Prot: January 24, 2006
Last sequence update: October 1, 2002
Last modified: July 9, 2014
This is version 101 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human and mouse protein kinases

Human and mouse protein kinases: classification and index

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM