Reviewed, UniProtKB/Swiss-Prot Q8NFD2 (ANKK1_HUMAN)

Names and origin

Protein names

Recommended name:
    Ankyrin repeat and protein kinase domain-containing protein 1
    EC=2.7.11.1
Alternative name(s):
    Protein kinase PKK2
    X-kinase
    Sugen kinase 288
      Short name=SgK288

Gene names

Name:	ANKK1
Synonyms:	PKK2, SGK288

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	765 AA.
Sequence status	Complete.
Protein existence	Evidence at protein 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 diversity	Polymorphism
Domain	ANK repeat Repeat
Ligand	ATP-binding Nucleotide-binding
Molecular function	Kinase Serine/threonine-protein kinase Transferase
PTM	Phosphoprotein
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	protein amino acid phosphorylation Inferred from electronic annotation. Source: InterPro
Molecular function	ATP binding Inferred from electronic annotation. Source: UniProtKB-KW protein serine/threonine kinase activity Inferred from electronic annotation. Source: UniProtKB-KW protein tyrosine kinase activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 765	765	Ankyrin repeat and protein kinase domain-containing protein 1		PRO_0000085620
Regions
	Domain	22 – 289	268	Protein kinase
	Repeat	361 – 390	30	ANK 1
	Repeat	394 – 423	30	ANK 2
	Repeat	427 – 456	30	ANK 3
	Repeat	460 – 489	30	ANK 4
	Repeat	493 – 522	30	ANK 5
	Repeat	526 – 555	30	ANK 6
	Repeat	559 – 588	30	ANK 7
	Repeat	592 – 621	30	ANK 8
	Repeat	625 – 654	30	ANK 9
	Repeat	658 – 687	30	ANK 10
	Repeat	691 – 720	30	ANK 11
	Repeat	724 – 753	30	ANK 12
	Nucleotide binding	28 – 36	9	ATP By similarity
Sites
	Active site	145	1	Proton acceptor By similarity
	Binding site	51	1	ATP By similarity
Amino acid modifications
	Modified residue	694	1	Phosphothreonine Ref.5
Natural variations
	Natural variant	4	1	D → Y: dbSNP rs35657708. Ref.6		VAR_040359
	Natural variant	122	1	R → H: dbSNP rs35877321. Ref.6		VAR_040360
	Natural variant	239	1	A → T: dbSNP rs7118900. Ref.6		VAR_036784
	Natural variant	276	1	P → L: dbSNP rs35488601. Ref.6		VAR_040361
	Natural variant	318	1	G → R: dbSNP rs11604671. Ref.6		VAR_036785
	Natural variant	347	1	K → T in a breast infiltrating ductal carcinoma sample; somatic mutation. Ref.6		VAR_040362
	Natural variant	366	1	L → F: dbSNP rs56339158. Ref.6		VAR_040363
	Natural variant	367	1	H → Q: dbSNP rs34298987. Ref.6		VAR_040364
	Natural variant	376	1	E → K: dbSNP rs56299709. Ref.6		VAR_040365
	Natural variant	426	1	E → K: dbSNP rs55699907. Ref.6		VAR_040366
	Natural variant	442	1	G → R: dbSNP rs4938016. Ref.6		VAR_036786
	Natural variant	451	1	G → R: dbSNP rs34983219. Ref.6		VAR_040367
	Natural variant	490	1	H → R: dbSNP rs2734849. Ref.6		VAR_036787
	Natural variant	595	1	T → I: dbSNP rs55787008. Ref.6		VAR_040368
	Natural variant	596	1	P → L: dbSNP rs7104979. Ref.6		VAR_040369
	Natural variant	653	1	N → S: dbSNP rs55849504. Ref.6		VAR_040370
	Natural variant	670	1	S → G: dbSNP rs56006094. Ref.6		VAR_040371
	Natural variant	713	1	E → K: dbSNP rs1800497. Ref.3 Ref.6		VAR_025010
	Natural variant	717	1	Q → L in a lung large cell carcinoma sample; somatic mutation. Ref.6		VAR_040372
	Natural variant	736	1	R → L in a lung squamous cell carcinoma sample; somatic mutation. Ref.6		VAR_040373
	Natural variant	764	1	E → K in a lung neuroendocrine carcinoma sample; somatic mutation. Ref.6		VAR_040374

Sequences

	Sequence		Length	Mass (Da)
	Q8NFD2-1 [UniParc]. Last modified October 1, 2002. Version 1. Checksum: 549F6161B2976BF5	FASTA	765	84,632
	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

References

	« Hide 'large scale' referencesShow '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: 15146457] [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: 14741327] [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: 12471243] [Abstract] Cited for: IDENTIFICATION.
[5]	"Automated phosphoproteome analysis for cultured cancer cells by two-dimensional nanoLC-MS using a calcined titania/C18 biphasic column." Imami K., Sugiyama N., Kyono Y., Tomita M., Ishihama Y. Anal. Sci. 24:161-166(2008) [PubMed: 18187866] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-694, MASS SPECTROMETRY.
[6]	"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: 17344846] [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.
IPI	IPI00168819.
RefSeq	NP_848605.1.
UniGene	Hs.448473
3D structure databases
SMR	Q8NFD2. Positions 27-282, 363-747.
ModBase	Search...
Protein-protein interaction databases
STRING	Q8NFD2.
PTM databases
PhosphoSite	Q8NFD2.
Proteomic databases
PRIDE	Q8NFD2.
Genome annotation databases
Ensembl	ENST00000303941; ENSP00000306678; ENSG00000170209; Homo sapiens. [Genome view]
GeneID	255239.
KEGG	hsa:255239.
UCSC	uc001pny.1. human.
Organism-specific databases
CTD	255239.
GeneCards	GC11P112763.
HGNC	HGNC:21027. ANKK1.
HPA	HPA012813.
MIM	608774. gene.
PharmGKB	PA134872551.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG07630.
HOGENOM	HBG444289.
HOVERGEN	Q8NFD2.
InParanoid	Q8NFD2.
OMA	VFQARHR.
OrthoDB	EOG9DFS80.
Enzyme and pathway databases
BRENDA	2.7.11.1. 247.
Gene expression databases
ArrayExpress	Q8NFD2.
Bgee	Q8NFD2.
CleanEx	HS_ANKK1.
Genevestigator	Q8NFD2.
Family and domain databases
InterPro	IPR002110. Ankyrin_rpt. IPR020683. Ankyrin_rpt-contain_dom. IPR011009. Kinase-like_dom. IPR000719. Prot_kinase_cat_dom. IPR008271. Ser/Thr_prot_kinase_AS. [Graphical view]
Gene3D	G3DSA:1.25.40.20. ANK. 2 hits.
Pfam	PF00023. Ank. 10 hits. [Graphical view]
SMART	SM00248. ANK. 11 hits. [Graphical view]
PROSITE	PS50297. ANK_REP_REGION. 1 hit. PS50088. ANK_REPEAT. 11 hits. PS00107. PROTEIN_KINASE_ATP. False negative. PS50011. PROTEIN_KINASE_DOM. 1 hit. PS00108. PROTEIN_KINASE_ST. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	92527.
SOURCE	Search...

Entry information

Entry name

ANKK1_HUMAN

Accession

Primary (citable) accession number: Q8NFD2

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 24, 2006
Last sequence update:	October 1, 2002
Last modified:	February 9, 2010
This is version 60 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Disclaimer

Any 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.