Ankyrin repeat and protein kinase domain-containing protein 1

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Q8NFD2 (ANKK1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified May 1, 2013. Version 90. History...

Clusters with 100%, 90%, 50% identity |

Documents (6) |

Third-party data

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Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·Documents Customize order

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
Sugen kinase 288
Short name=SgK288
X-kinase

Gene names

Name:	ANKK1
Synonyms:	PKK2, SGK288

Organism

Homo sapiens (Human) [Reference 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 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 diversity	Polymorphism
Domain	ANK repeat Repeat
Ligand	ATP-binding Nucleotide-binding
Molecular function	Kinase Serine/threonine-protein kinase Transferase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Molecular_function	ATP 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 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

ANK 1

Repeat

394 – 423

ANK 2

Repeat

427 – 456

ANK 3

Repeat

460 – 489

ANK 4

Repeat

493 – 522

ANK 5

Repeat

526 – 555

ANK 6

Repeat

559 – 588

ANK 7

Repeat

592 – 621

ANK 8

Repeat

625 – 654

ANK 9

Repeat

658 – 687

ANK 10

Repeat

691 – 720

ANK 11

Repeat

724 – 753

ANK 12

Nucleotide binding

28 – 36

ATP By similarity

Sites

Active site

145

Proton acceptor By similarity

Binding site

ATP By similarity

Natural variations

Natural variant

D → Y. Ref.5
Corresponds to variant rs35657708 [ dbSNP | Ensembl ].

VAR_040359

Natural variant

122

R → H. Ref.5
Corresponds to variant rs35877321 [ dbSNP | Ensembl ].

VAR_040360

Natural variant

239

A → T. Ref.5
Corresponds to variant rs7118900 [ dbSNP | Ensembl ].

VAR_036784

Natural variant

276

P → L. Ref.5
Corresponds to variant rs35488601 [ dbSNP | Ensembl ].

VAR_040361

Natural variant

318

G → R. Ref.5
Corresponds to variant rs11604671 [ dbSNP | Ensembl ].

VAR_036785

Natural variant

347

K → T in a breast infiltrating ductal carcinoma sample; somatic mutation. Ref.5

VAR_040362

Natural variant

366

L → F. Ref.5
Corresponds to variant rs56339158 [ dbSNP | Ensembl ].

VAR_040363

Natural variant

367

H → Q. Ref.5
Corresponds to variant rs34298987 [ dbSNP | Ensembl ].

VAR_040364

Natural variant

376

E → K. Ref.5
Corresponds to variant rs56299709 [ dbSNP | Ensembl ].

VAR_040365

Natural variant

426

E → K. Ref.5
Corresponds to variant rs55699907 [ dbSNP | Ensembl ].

VAR_040366

Natural variant

442

G → R. Ref.5
Corresponds to variant rs4938016 [ dbSNP | Ensembl ].

VAR_036786

Natural variant

451

G → R. Ref.5
Corresponds to variant rs34983219 [ dbSNP | Ensembl ].

VAR_040367

Natural variant

490

H → R. Ref.5
Corresponds to variant rs2734849 [ dbSNP | Ensembl ].

VAR_036787

Natural variant

595

T → I. Ref.5
Corresponds to variant rs55787008 [ dbSNP | Ensembl ].

VAR_040368

Natural variant

596

P → L. Ref.5
Corresponds to variant rs7104979 [ dbSNP | Ensembl ].

VAR_040369

Natural variant

653

N → S. Ref.5
Corresponds to variant rs55849504 [ dbSNP | Ensembl ].

VAR_040370

Natural variant

670

S → G. Ref.5
Corresponds to variant rs56006094 [ dbSNP | Ensembl ].

VAR_040371

Natural variant

713

E → K. Ref.3 Ref.5
Corresponds to variant rs1800497 [ dbSNP | Ensembl ].

VAR_025010

Natural variant

717

Q → L in a lung large cell carcinoma sample; somatic mutation. Ref.5

VAR_040372

Natural variant

736

R → L in a lung squamous cell carcinoma sample; somatic mutation. Ref.5

VAR_040373

Natural variant

764

E → K in a lung neuroendocrine carcinoma sample; somatic mutation. Ref.5

VAR_040374

Sequences

Sequence

Length

Mass (Da)

Tools

Q8NFD2 [UniParc].

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

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

« Hide

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] [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. 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.
IPI	IPI00168819.
RefSeq	NP_848605.1. NM_178510.1.
UniGene	Hs.448473.
3D structure databases
ProteinModelPortal	Q8NFD2.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000306678.
PTM databases
PhosphoSite	Q8NFD2.
Polymorphism databases
DMDM	74762569.
Proteomic databases
PaxDb	Q8NFD2.
PRIDE	Q8NFD2.
Protocols and materials databases
DNASU	255239.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000303941; ENSP00000306678; ENSG00000170209.
GeneID	255239.
KEGG	hsa:255239.
UCSC	uc001pny.3. human.
Organism-specific databases
CTD	255239.
GeneCards	GC11P113258.
HGNC	HGNC:21027. ANKK1.
HPA	HPA012813.
MIM	608774. gene.
neXtProt	NX_Q8NFD2.
PharmGKB	PA134872551.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0515.
HOGENOM	HOG000294086.
HOVERGEN	HBG061582.
InParanoid	Q8NFD2.
KO	K16289.
OMA	QARHRRW.
OrthoDB	EOG4MKNFN.
Gene expression databases
Bgee	Q8NFD2.
CleanEx	HS_ANKK1.
Genevestigator	Q8NFD2.
Family and domain databases
Gene3D	1.25.40.20. 5 hits.
InterPro	IPR002110. Ankyrin_rpt. IPR020683. Ankyrin_rpt-contain_dom. IPR011009. Kinase-like_dom. IPR000719. Prot_kinase_cat_dom. IPR001245. Ser-Thr/Tyr_kinase_cat_dom. IPR008271. Ser/Thr_kinase_AS. [Graphical view]
Pfam	PF00023. Ank. 2 hits. PF12796. Ank_2. 4 hits. PF07714. Pkinase_Tyr. 1 hit. [Graphical view]
PRINTS	PR01415. ANKYRIN.
SMART	SM00248. ANK. 11 hits. [Graphical view]
SUPFAM	SSF48403. ANK. 1 hit. SSF56112. Kinase_like. 1 hit.
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
BindingDB	Q8NFD2.
ChEMBL	CHEMBL5547.
GenomeRNAi	255239.
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:	May 1, 2013
This is version 90 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

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.

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Human and mouse protein kinases: classification and index

Human chromosome 11

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

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

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

SIMILARITY comments

Index of protein domains and families

Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·Documents

Preferred order of sections

Names and origin

Protein attributes

General annotation (Comments)

Ontologies

Sequence annotation (Features)

Molecule processing

Regions

Sites

Natural variations

Sequences

References

Cross-references

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Gene expression databases

Family and domain databases

Other

Entry information

Relevant documents