LOCUS       NM_178510               2553 bp    mRNA    linear   PRI 29-OCT-2024
DEFINITION  Homo sapiens ankyrin repeat and kinase domain containing 1 (ANKK1),
            mRNA.
ACCESSION   NM_178510
VERSION     NM_178510.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2553)
  AUTHORS   Dominguez-Berzosa,L., Cantarero,L., Rodriguez-Sanz,M., Tort,G.,
            Garrido,E., Troya-Balseca,J., Saez,M., Castro-Martinez,X.H.,
            Fernandez-Lizarbe,S., Urquizu,E., Calvo,E., Lopez,J.A., Palomo,T.,
            Palau,F. and Hoenicka,J.
  TITLE     ANKK1 Is a Wnt/PCP Scaffold Protein for Neural F-ACTIN Assembly
  JOURNAL   Int J Mol Sci 25 (19), 10705 (2024)
   PUBMED   39409035
  REMARK    GeneRIF: ANKK1 Is a Wnt/PCP Scaffold Protein for Neural F-ACTIN
            Assembly.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2553)
  AUTHORS   Montalban,E., Walle,R., Castel,J., Ansoult,A., Hassouna,R.,
            Foppen,E., Fang,X., Hutelin,Z., Mickus,S., Perszyk,E., Petitbon,A.,
            Berthelet,J., Rodrigues-Lima,F., Cebrian-Serrano,A., Gangarossa,G.,
            Martin,C., Trifilieff,P., Bosch-Bouju,C., Small,D.M. and Luquet,S.
  TITLE     The Addiction-Susceptibility TaqIA/Ankk1 Controls Reward and
            Metabolism Through D2 Receptor-Expressing Neurons
  JOURNAL   Biol Psychiatry 94 (5), 424-436 (2023)
   PUBMED   36805080
  REMARK    GeneRIF: The Addiction-Susceptibility TaqIA/Ankk1 Controls Reward
            and Metabolism Through D2 Receptor-Expressing Neurons.
REFERENCE   3  (bases 1 to 2553)
  AUTHORS   Kibitov,A.A., Kiryanova,E.M., Salnikova,L.I., Bure,I.V.,
            Shmukler,A.B. and Kibitov,A.O.
  TITLE     The ANKK1/DRD2 gene TaqIA polymorphism (rs1800497) is associated
            with the severity of extrapyramidal side effects of haloperidol
            treatment in CYP2D6 extensive metabolizers with schizophrenia
            spectrum disorders
  JOURNAL   Drug Metab Pers Ther 38 (2), 133-142 (2022)
   PUBMED   36437548
  REMARK    GeneRIF: The ANKK1/DRD2 gene TaqIA polymorphism (rs1800497) is
            associated with the severity of extrapyramidal side effects of
            haloperidol treatment in CYP2D6 extensive metabolizers with
            schizophrenia spectrum disorders.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2553)
  AUTHORS   Baratto,S.S.P., Meger,M.N., Camargo,V., Nolasco,G.M.C.,
            Mattos,N.H.R., Roskamp,L., Stechman-Neto,J., Madalena,I.R.,
            Kuchler,E.C. and Baratto-Filho,F.
  TITLE     Temporomandibular disorder in construction workers associated with
            ANKK1 and DRD2 genes
  JOURNAL   Braz Dent J 33 (4), 12-20 (2022)
   PUBMED   36043564
  REMARK    GeneRIF: Temporomandibular disorder in construction workers
            associated with ANKK1 and DRD2 genes.
REFERENCE   5  (bases 1 to 2553)
  AUTHORS   Habibzadeh,P., Nemati,A., Dastsooz,H., Taghipour-Sheshdeh,A.,
            Mariam Paul,P., Sahraian,A. and Ali Faghihi,M.
  TITLE     Investigating the association between common DRD2/ANKK1 genetic
            polymorphisms and schizophrenia: a meta-analysis
  JOURNAL   J Genet 100 (2021)
   PUBMED   34470923
  REMARK    GeneRIF: Investigating the association between common DRD2/ANKK1
            genetic polymorphisms and schizophrenia: a meta-analysis.
REFERENCE   6  (bases 1 to 2553)
  AUTHORS   Neville,M.J., Johnstone,E.C. and Walton,R.T.
  TITLE     Identification and characterization of ANKK1: a novel kinase gene
            closely linked to DRD2 on chromosome band 11q23.1
  JOURNAL   Hum Mutat 23 (6), 540-545 (2004)
   PUBMED   15146457
  REMARK    GeneRIF: changes in ANKK1 activity may provide an alternative
            explanation for previously described associations between the DRD2
            Taq1A RFLP and neuropsychiatric disorders such as addiction
REFERENCE   7  (bases 1 to 2553)
  AUTHORS   Kishida,I., Kawanishi,C., Furuno,T., Matsumura,T., Hasegawa,H.,
            Sugiyama,N., Suzuki,K., Yamada,Y. and Kosaka,K.
  TITLE     Lack of association in Japanese patients between neuroleptic
            malignant syndrome and the TaqI A polymorphism of the dopamine D2
            receptor gene
  JOURNAL   Psychiatr Genet 13 (1), 55-57 (2003)
   PUBMED   12605103
  REMARK    GeneRIF: There is a lack of association in Japanese patients
            between neuroleptic malignant syndrome and the TaqI A polymorphism
            of this gene.
REFERENCE   8  (bases 1 to 2553)
  AUTHORS   Mihara,K., Kondo,T., Suzuki,A., Yasui-Furukori,N., Ono,S., Sano,A.,
            Koshiro,K., Otani,K. and Kaneko,S.
  TITLE     Relationship between functional dopamine D2 and D3 receptors gene
            polymorphisms and neuroleptic malignant syndrome
  JOURNAL   Am J Med Genet B Neuropsychiatr Genet 117B (1), 57-60 (2003)
   PUBMED   12555236
  REMARK    GeneRIF: study suggests that only the TaqI A polymorphism is
            associated with neuroleptic malignant syndrome, but the -141 C
            Ins/Del and Ser(9)Gly polymorphisms are not
REFERENCE   9  (bases 1 to 2553)
  AUTHORS   Manning,G., Whyte,D.B., Martinez,R., Hunter,T. and Sudarsanam,S.
  TITLE     The protein kinase complement of the human genome
  JOURNAL   Science 298 (5600), 1912-1934 (2002)
   PUBMED   12471243
  REMARK    Review article
REFERENCE   10 (bases 1 to 2553)
  AUTHORS   Bartres-Faz,D., Junque,C., Serra-Grabulosa,J.M., Lopez-Alomar,A.,
            Moya,A., Bargallo,N., Mercader,J.M., Moral,P. and Clemente,I.C.
  TITLE     Dopamine DRD2 Taq I polymorphism associates with caudate nucleus
            volume and cognitive performance in memory impaired subjects
  JOURNAL   Neuroreport 13 (9), 1121-1125 (2002)
   PUBMED   12151753
  REMARK    GeneRIF: Among the aged with cognitive impairments, the homozygous
            status for the A2 allele of the DRD2 Taq I polymorphism is
            associated with diminished cognitive performance and increased
            atrophy in the striatum.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP002840.3 and AJ541797.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_178510.1.
            
            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
            fragment length polymorphism (RFLP) designated TaqIA, was
            originally associated with the DRD2 gene, however, later was
            determined to be located in exon 8 of ANKK1 gene (PMIDs: 18621654,
            15146457), where it causes a nonconservative amino acid
            substitution. It is not clear if this gene plays any role in
            neuropsychiatric disorders previously associated with Taq1A RFLP.
            [provided by RefSeq, Sep 2009].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AJ541797.2, AF487542.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2147596 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000303941.4/ ENSP00000306678.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-12                AP002840.3         24070-24081
            13-2553             AJ541797.2         1-2541
FEATURES             Location/Qualifiers
     source          1..2553
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q23.2"
     gene            1..2553
                     /gene="ANKK1"
                     /gene_synonym="PKK2; sgK288"
                     /note="ankyrin repeat and kinase domain containing 1"
                     /db_xref="GeneID:255239"
                     /db_xref="HGNC:HGNC:21027"
                     /db_xref="MIM:608774"
     exon            1..291
                     /gene="ANKK1"
                     /gene_synonym="PKK2; sgK288"
                     /inference="alignment:Splign:2.1.0"
     CDS             107..2404
                     /gene="ANKK1"
                     /gene_synonym="PKK2; sgK288"
                     /EC_number="2.7.11.1"
                     /note="X-kinase; protein kinase PKK2; sugen kinase 288"
                     /codon_start=1
                     /product="ankyrin repeat and protein kinase
                     domain-containing protein 1"
                     /protein_id="NP_848605.1"
                     /db_xref="CCDS:CCDS44734.1"
                     /db_xref="GeneID:255239"
                     /db_xref="HGNC:HGNC:21027"
                     /db_xref="MIM:608774"
                     /translation="MAADPTELRLGSLPVFTRDDFEGDWRLVASGGFSQVFQARHRRW
                     RTEYAIKCAPCLPPDAASSDVNYLIEEAAKMKKIKFQHIVSIYGVCKQPLGIVMEFMA
                     NGSLEKVLSTHSLCWKLRFRIIHETSLAMNFLHSIKPPLLHLDLKPGNILLDSNMHVK
                     ISDFGLSKWMEQSTRMQYIERSALRGMLSYIPPEMFLESNKAPGPKYDVYSFAIVIWE
                     LLTQKKPYSGFNMMMIIIRVAAGMRPSLQPVSDQWPSEAQQMVDLMKRCWDQDPKKRP
                     CFLDITIETDILLSLLQSRVAVPESKALARKVSCKLSLRQPGEVNEDISQELMDSDSG
                     NYLKRALQLSDRKNLVPRDEELCIYENKVTPLHFLVAQGSVEQVRLLLAHEVDVDCQT
                     ASGYTPLLIAAQDQQPDLCALLLAHGADANRVDEDGWAPLHFAAQNGDDGTARLLLDH
                     GACVDAQEREGWTPLHLAAQNNFENVARLLVSRQADPNLHEAEGKTPLHVAAYFGHVS
                     LVKLLTSQGAELDAQQRNLRTPLHLAVERGKVRAIQHLLKSGAVPDALDQSGYGPLHT
                     AAARGKYLICKMLLRYGASLELPTHQGWTPLHLAAYKGHLEIIHLLAESHANMGALGA
                     VNWTPLHLAARHGEEAVVSALLQCGADPNAAEQSGWTPLHLAVQRSTFLSVINLLEHH
                     ANVHARNKVGWTPAHLAALKGNTAILKVLVEAGAQLDVQDGVSCTPLQLALRSRKQGI
                     MSFLEGKEPSVATLGGSKPGAEMEI"
     exon            292..586
                     /gene="ANKK1"
                     /gene_synonym="PKK2; sgK288"
                     /inference="alignment:Splign:2.1.0"
     exon            587..738
                     /gene="ANKK1"
                     /gene_synonym="PKK2; sgK288"
                     /inference="alignment:Splign:2.1.0"
     exon            739..788
                     /gene="ANKK1"
                     /gene_synonym="PKK2; sgK288"
                     /inference="alignment:Splign:2.1.0"
     exon            789..944
                     /gene="ANKK1"
                     /gene_synonym="PKK2; sgK288"
                     /inference="alignment:Splign:2.1.0"
     exon            945..1063
                     /gene="ANKK1"
                     /gene_synonym="PKK2; sgK288"
                     /inference="alignment:Splign:2.1.0"
     exon            1064..1100
                     /gene="ANKK1"
                     /gene_synonym="PKK2; sgK288"
                     /inference="alignment:Splign:2.1.0"
     exon            1101..2553
                     /gene="ANKK1"
                     /gene_synonym="PKK2; sgK288"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2535..2540
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ANKK1"
                     /gene_synonym="PKK2; sgK288"
                     /note="hexamer: AATACA"
     polyA_site      2553
                     /gene="ANKK1"
                     /gene_synonym="PKK2; sgK288"
                     /note="major polyA site"
ORIGIN      
        1 attcccctct cccggacccg aggagcagga agcggcggct ccttcggcca cccaggcagc
       61 agccacagcg gggagtgcgc ggcgcgggga caggaagaga ggggcaatgg ctgccgaccc
      121 caccgagctg cggctgggca gcctccccgt cttcacccgc gacgacttcg agggcgactg
      181 gcgcctagtg gccagcggcg gcttcagcca ggtgttccag gcgcggcaca ggcgctggcg
      241 gacggagtac gccatcaagt gcgccccctg ccttccaccc gacgccgcca gctctgatgt
      301 gaattacctc attgaagaag ctgccaaaat gaagaagatc aagtttcagc acatcgtgtc
      361 tatctacggg gtgtgcaagc agcccctggg tattgtgatg gagtttatgg ccaacggctc
      421 cctggagaag gtgctgtcca cccacagcct ctgctggaag ctcaggttcc gcatcatcca
      481 tgagaccagc ttggccatga acttcctgca cagcattaag ccgcctctgc tccacctgga
      541 cctcaagccg ggcaacatac tcctggacag caacatgcat gtcaaaattt cagacttcgg
      601 cctgtccaag tggatggaac agtccacccg gatgcagtac atcgagaggt cggctctgcg
      661 gggcatgctc agctacatcc cccctgagat gttcctggag agtaacaagg ccccaggacc
      721 taaatatgat gtgtacagct ttgcaattgt catctgggag ctactcactc agaagaaacc
      781 atactcaggg ttcaacatga tgatgattat tatccgagtg gcggcaggca tgcggccctc
      841 cctacagcct gtctctgacc aatggccaag cgaggcccag cagatggtgg acctgatgaa
      901 acgctgctgg gaccaggacc ccaagaagag gccatgcttt ctagacatta ccatcgagac
      961 agacatactg ctgtcactgc tgcagagtcg tgtggcagtc ccagagagca aggccctggc
     1021 caggaaggtg tcctgcaagc tgtcgctgcg ccagcccggg gaggttaatg aggacatcag
     1081 ccaggaactg atggacagtg actcaggaaa ctacctgaag cgggcccttc agctctccga
     1141 ccgtaagaat ttggtcccga gagatgagga actgtgtatc tatgagaaca aggtcacccc
     1201 cctccacttc ctggtggccc agggcagtgt ggagcaggtg aggttgctgc tggcccacga
     1261 ggtagacgtg gactgccaga cggcctctgg atacacgccc ctcctgatcg ccgcccagga
     1321 ccagcaaccc gacctctgtg ccctgctttt ggcacatggt gctgatgcca accgagtgga
     1381 tgaggatggc tgggccccac tgcactttgc agcccagaat ggggatgacg gcactgcgcg
     1441 cctgctcctg gaccacgggg cctgtgtgga tgcccaggaa cgtgaagggt ggacccctct
     1501 tcacctggct gcacagaata actttgagaa tgtggcacgg cttctggtct cccgtcaggc
     1561 tgaccccaac ctgcatgagg ctgagggcaa gacccccctc catgtggccg cctactttgg
     1621 ccatgttagc ctggtcaagc tgctgaccag ccagggggct gagttggatg ctcagcagag
     1681 aaacctgaga acaccactgc acctggcagt agagcggggc aaagtgaggg ccatccaaca
     1741 cctgctgaag agtggagcgg tccctgatgc ccttgaccag agcggctacg gcccactgca
     1801 cactgcagct gccaggggca aatacctgat ctgcaagatg ctgctcaggt acggagccag
     1861 ccttgagctg cccacccacc agggctggac acccctgcat ctagcagcct acaagggcca
     1921 cctggagatc atccatctgc tggcagagag ccacgcaaac atgggtgctc ttggagctgt
     1981 gaactggact cccctgcacc tagctgcacg ccacggggag gaggcggtgg tgtcagcact
     2041 gctgcagtgt ggggctgacc ccaatgctgc agagcagtca ggctggacac ccctccacct
     2101 ggcggtccag aggagcacct tcctgagtgt catcaacctc ctagaacatc acgcaaatgt
     2161 ccacgcccgc aacaaggtgg gctggacacc cgcccacctg gccgccctca agggcaacac
     2221 agccatcctc aaagtgctgg tcgaggcagg cgcccagctg gacgtccagg atggagtgag
     2281 ctgcacaccc ctgcaactgg ccctccgcag ccgaaagcag ggcatcatgt ccttcctaga
     2341 gggcaaggag ccgtcagtgg ccactctggg tggttctaag ccaggagccg agatggaaat
     2401 ttagacaact tggccagccg tggtggctca cgtctgtaat cccagcactt tgggaggctg
     2461 aggcaggcag atcacctgat atcaagagtt tgaggccagc ctggccaaca tggcaaaacc
     2521 ctgtctctgc taaaaataca aaatttagct ggg
//
