ANKK1 (ankyrin repeat and kinase domain containing 1)

Gene

• Entrez ID: 255239
• Gene name: Ankyrin repeat and kinase domain containing 1
• Gene symbol: ANKK1
• Synonyms: PKK2, sgK288
• Chromosome: 11
• Chromosome location: 11q23.2
• Summary: The protein encoded by this gene belongs to the Ser/Thr protein kinase family, and protein kinase superfamily involved in signal transduction pathways. This gene is closely linked to DRD2 gene (GeneID:1813) on chr 11, and a well studied restriction fragme

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1800497	G>A	Benign, drug-response	Missense variant, coding sequence variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IDA	27166167
GO:0005737	Component	Cytoplasm	IEA
GO:0006468	Process	Protein phosphorylation	IEA
GO:0010564	Process	Regulation of cell cycle process	IDA	27166167
GO:0042995	Component	Cell projection	IEA
GO:0106310	Function	Protein serine kinase activity	IEA
GO:0106311	Function	Protein threonine kinase activity	IEA

Other IDs

• MIM: 608774
• HGNC: 21027
• e!Ensembl: ENSG00000170209

Protein

• UniProt ID: Q8NFD2
• Protein name: Ankyrin repeat and protein kinase domain-containing protein 1 (EC 2.7.11.1) (Protein kinase PKK2) (Sugen kinase 288) (SgK288) (X-kinase)
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07714	PK_Tyr_Ser-Thr	25 → 285	Protein tyrosine and serine/threonine kinase	Domain
  PF12796	Ank_2	333 → 425	Ankyrin repeats (3 copies)	Repeat
  PF12796	Ank_2	413 → 491	Ankyrin repeats (3 copies)	Repeat
  PF12796	Ank_2	432 → 526	Ankyrin repeats (3 copies)	Repeat
  PF12796	Ank_2	498 → 590	Ankyrin repeats (3 copies)	Repeat
  PF12796	Ank_2	564 → 656	Ankyrin repeats (3 copies)	Repeat
  PF12796	Ank_2	623 → 689	Ankyrin repeats (3 copies)	Repeat
  PF12796	Ank_2	641 → 722	Ankyrin repeats (3 copies)	Repeat

• Sequence:

  MAADPTELRLGSLPVFTRDDFEGDWRLVASGGFSQVFQARHRRWRTEYAIKCAPCLPPDA
  ASSDVNYLIEEAAKMKKIKFQHIVSIYGVCKQPLGIVMEFMANGSLEKVLSTHSLCWKLR
  FRIIHETSLAMNFLHSIKPPLLHLDLKPGNILLDSNMHVKISDFGLSKWMEQSTRMQYIE
  RSALRGMLSYIPPEMFLESNKAPGPKYDVYSFAIVIWELLTQKKPYSGFNMMMIIIRVAA
  GMRPSLQPVSDQWPSEAQQMVDLMKRCWDQDPKKRPCFLDITIETDILLSLLQSRVAVPE
  SKALARKVSCKLSLRQPGEVNEDISQELMDSDSGNYLKRALQLSDRKNLVPRDEELCIYE
  NKVTPLHFLVAQGSVEQVRLLLAHEVDVDCQTASGYTPLLIAAQDQQPDLCALLLAHGAD
  ANRVDEDGWAPLHFAAQNGDDGTARLLLDHGACVDAQEREGWTPLHLAAQNNFENVARLL
  VSRQADPNLHEAEGKTPLHVAAYFGHVSLVKLLTSQGAELDAQQRNLRTPLHLAVERGKV
  RAIQHLLKSGAVPDALDQSGYGPLHTAAARGKYLICKMLLRYGASLELPTHQGWTPLHLA
  AYKGHLEIIHLLAESHANMGALGAVNWTPLHLAARHGEEAVVSALLQCGADPNAAEQSGW
  TPLHLAVQRSTFLSVINLLEHHANVHARNKVGWTPAHLAALKGNTAILKVLVEAGAQLDV
  QDGVSCTPLQLALRSRKQGIMSFLEGKEPSVATLGGSKPGAEMEI

• Sequence length: 765

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Lung carcinoma	Squamous cell carcinoma of lung, Large cell carcinoma of lung	rs1805076, rs121909071, rs121913530, rs112445441, rs121913529, rs121913535, rs121913297, rs121913279, rs104886003, rs397516975, rs11554290, rs121913364, rs121913351, rs121913369, rs121913355, rs121912470, rs121913273, rs121913281, rs121913348, rs727503093, rs121913353, rs397516890, rs397516896, rs121913378, rs397516897, rs397516977, rs397516978, rs397516979, rs397516980, rs397516981, rs397516982, rs121913240, rs17851045, rs397517086, rs121913428, rs397517094, rs397517098, rs397517106, rs121913465, rs397517108, rs397517111, rs397517112, rs397517114, rs397517116, rs1554350366, rs397517127, rs397517200, rs397517202, rs121913283, rs121913370, rs121913357, rs727503106, rs121913238, rs727503108, rs397517040, rs397516976, rs1555618025, rs1057519729, rs1584238193
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	24704945, 20138949

Unknown
Disease name	Disease term	dbSNP ID	References
Bipolar disorder	Bipolar Disorder		20577142, 22514151, 22326841
Infiltrating duct carcinoma of female breast	Infiltrating duct carcinoma of female breast
Language disorders	Language Disorders, Acquired Language Disorders		23691092
Mental depression	Mental Depression, Depressive disorder	rs587778876, rs587778877	23683269, 21540761, 21540761, 23683269