LOCUS       NM_017771               3001 bp    mRNA    linear   PRI 02-APR-2024
DEFINITION  Homo sapiens PX domain containing serine/threonine kinase like
            (PXK), transcript variant 1, mRNA.
ACCESSION   NM_017771
VERSION     NM_017771.5
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 3001)
  AUTHORS   Gentiluomo,M., Luddi,A., Cingolani,A., Fornili,M., Governini,L.,
            Lucenteforte,E., Baglietto,L., Piomboni,P. and Campa,D.
  TITLE     Telomere Length and Male Fertility
  JOURNAL   Int J Mol Sci 22 (8), 3959 (2021)
   PUBMED   33921254
  REMARK    GeneRIF: Telomere Length and Male Fertility.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3001)
  AUTHORS   So,J., Pasculescu,A., Dai,A.Y., Williton,K., James,A., Nguyen,V.,
            Creixell,P., Schoof,E.M., Sinclair,J., Barrios-Rodiles,M., Gu,J.,
            Krizus,A., Williams,R., Olhovsky,M., Dennis,J.W., Wrana,J.L.,
            Linding,R., Jorgensen,C., Pawson,T. and Colwill,K.
  TITLE     Integrative analysis of kinase networks in TRAIL-induced apoptosis
            provides a source of potential targets for combination therapy
  JOURNAL   Sci Signal 8 (371), rs3 (2015)
   PUBMED   25852190
  REMARK    GeneRIF: Two of these kinases that were classified as resistors
            were PX domain-containing serine/threonine kinase (PXK) and
            AP2-associated kinase 1 (AAK1), which promote receptor endocytosis
            and may enable cells to resist TRAIL-induced apoptosis
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3001)
  AUTHORS   Song,G., Yan,J., Li,G. and Chen,Z.J.
  TITLE     Association between KIAA0319L, PXK and JAZF1 gene polymorphisms and
            unexplained recurrent pregnancy loss in Chinese Han couples
  JOURNAL   Reprod Biomed Online 30 (3), 275-280 (2015)
   PUBMED   25596907
  REMARK    GeneRIF: genetic association study in Han population in China: Data
            suggest an SNP in PXK [rs2176082(C/T); but not rs6445975(G/T)] is
            associated with recurrent pregnancy loss; SNPs in KIAA0319L
            [rs2275247(A/G)] or JAZF1 [rs1635852(C/T)] are not associated.
REFERENCE   4  (bases 1 to 3001)
  AUTHORS   Oparina,N.Y., Delgado-Vega,A.M., Martinez-Bueno,M., Magro-Checa,C.,
            Fernandez,C., Castro,R.O., Pons-Estel,B.A., D'Alfonso,S.,
            Sebastiani,G.D., Witte,T., Lauwerys,B.R., Endreffy,E., Kovacs,L.,
            Escudero,A., Lopez-Pedrera,C., Vasconcelos,C., da Silva,B.M.,
            Frostegard,J., Truedsson,L., Martin,J., Raya,E., Ortego-Centeno,N.,
            de Los Angeles Aguirre,M., de Ramon Garrido,E., Palma,M.J.,
            Alarcon-Riquelme,M.E. and Kozyrev,S.V.
  TITLE     PXK locus in systemic lupus erythematosus: fine mapping and
            functional analysis reveals novel susceptibility gene ABHD6
  JOURNAL   Ann Rheum Dis 74 (3), e14 (2015)
   PUBMED   24534757
  REMARK    GeneRIF: Results confirm the genetic association of the locus
            3p14.3 with systemic lupus erythematosus in Europeans and point to
            the ABHD6 and not PXK, as the major susceptibility gene in the
            region.
REFERENCE   5  (bases 1 to 3001)
  AUTHORS   Okada,Y., Wu,D., Trynka,G., Raj,T., Terao,C., Ikari,K., Kochi,Y.,
            Ohmura,K., Suzuki,A., Yoshida,S., Graham,R.R., Manoharan,A.,
            Ortmann,W., Bhangale,T., Denny,J.C., Carroll,R.J., Eyler,A.E.,
            Greenberg,J.D., Kremer,J.M., Pappas,D.A., Jiang,L., Yin,J., Ye,L.,
            Su,D.F., Yang,J., Xie,G., Keystone,E., Westra,H.J., Esko,T.,
            Metspalu,A., Zhou,X., Gupta,N., Mirel,D., Stahl,E.A., Diogo,D.,
            Cui,J., Liao,K., Guo,M.H., Myouzen,K., Kawaguchi,T., Coenen,M.J.,
            van Riel,P.L., van de Laar,M.A., Guchelaar,H.J., Huizinga,T.W.,
            Dieude,P., Mariette,X., Bridges,S.L. Jr., Zhernakova,A., Toes,R.E.,
            Tak,P.P., Miceli-Richard,C., Bang,S.Y., Lee,H.S., Martin,J.,
            Gonzalez-Gay,M.A., Rodriguez-Rodriguez,L., Rantapaa-Dahlqvist,S.,
            Arlestig,L., Choi,H.K., Kamatani,Y., Galan,P., Lathrop,M., Eyre,S.,
            Bowes,J., Barton,A., de Vries,N., Moreland,L.W., Criswell,L.A.,
            Karlson,E.W., Taniguchi,A., Yamada,R., Kubo,M., Liu,J.S., Bae,S.C.,
            Worthington,J., Padyukov,L., Klareskog,L., Gregersen,P.K.,
            Raychaudhuri,S., Stranger,B.E., De Jager,P.L., Franke,L.,
            Visscher,P.M., Brown,M.A., Yamanaka,H., Mimori,T., Takahashi,A.,
            Xu,H., Behrens,T.W., Siminovitch,K.A., Momohara,S., Matsuda,F.,
            Yamamoto,K. and Plenge,R.M.
  CONSRTM   RACI consortium; GARNET consortium
  TITLE     Genetics of rheumatoid arthritis contributes to biology and drug
            discovery
  JOURNAL   Nature 506 (7488), 376-381 (2014)
   PUBMED   24390342
REFERENCE   6  (bases 1 to 3001)
  AUTHORS   Yang,W., Ng,P., Zhao,M., Hirankarn,N., Lau,C.S., Mok,C.C.,
            Chan,T.M., Wong,R.W., Lee,K.W., Mok,M.Y., Wong,S.N.,
            Avihingsanon,Y., Lee,T.L., Ho,M.H., Lee,P.P., Wong,W.H. and
            Lau,Y.L.
  TITLE     Population differences in SLE susceptibility genes: STAT4 and BLK,
            but not PXK, are associated with systemic lupus erythematosus in
            Hong Kong Chinese
  JOURNAL   Genes Immun 10 (3), 219-226 (2009)
   PUBMED   19225526
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 3001)
  AUTHORS   Harley,J.B., Alarcon-Riquelme,M.E., Criswell,L.A., Jacob,C.O.,
            Kimberly,R.P., Moser,K.L., Tsao,B.P., Vyse,T.J., Langefeld,C.D.,
            Nath,S.K., Guthridge,J.M., Cobb,B.L., Mirel,D.B., Marion,M.C.,
            Williams,A.H., Divers,J., Wang,W., Frank,S.G., Namjou,B.,
            Gabriel,S.B., Lee,A.T., Gregersen,P.K., Behrens,T.W., Taylor,K.E.,
            Fernando,M., Zidovetzki,R., Gaffney,P.M., Edberg,J.C., Rioux,J.D.,
            Ojwang,J.O., James,J.A., Merrill,J.T., Gilkeson,G.S., Seldin,M.F.,
            Yin,H., Baechler,E.C., Li,Q.Z., Wakeland,E.K., Bruner,G.R.,
            Kaufman,K.M. and Kelly,J.A.
  CONSRTM   International Consortium for Systemic Lupus Erythematosus Genetics
            (SLEGEN)
  TITLE     Genome-wide association scan in women with systemic lupus
            erythematosus identifies susceptibility variants in ITGAM, PXK,
            KIAA1542 and other loci
  JOURNAL   Nat Genet 40 (2), 204-210 (2008)
   PUBMED   18204446
  REMARK    GeneRIF: study presents four new regions having genetic
            associations with systemic lupus erythematosus in women of European
            descent: ITGAM, KIAA1542, PXK and rs10798269
            GeneRIF: Genome-wide association study of gene-disease association.
            (HuGE Navigator)
REFERENCE   8  (bases 1 to 3001)
  AUTHORS   Zou,X., Qiu,G., Chen,C., Wu,M., Hu,Y., Zheng,H., Li,X., Gu,S.,
            Ji,C. and Mao,Y.
  TITLE     Expression pattern and subcellular localization of five splice
            isoforms of human PXK
  JOURNAL   Int J Mol Med 16 (4), 701-707 (2005)
   PUBMED   16142408
REFERENCE   9  (bases 1 to 3001)
  AUTHORS   Mao,H., Ferguson,T.S., Cibulsky,S.M., Holmqvist,M., Ding,C., Fei,H.
            and Levitan,I.B.
  TITLE     MONaKA, a novel modulator of the plasma membrane Na,K-ATPase
  JOURNAL   J Neurosci 25 (35), 7934-7943 (2005)
   PUBMED   16135750
  REMARK    GeneRIF: MONaKA modulates brain Na,K-ATPase by binding tightly to
            its beta1 and beta3 subunits, and may thereby participate in the
            regulation of electrical excitability and synaptic transmission
            [MONaKA]
REFERENCE   10 (bases 1 to 3001)
  AUTHORS   Caenepeel,S., Charydczak,G., Sudarsanam,S., Hunter,T. and
            Manning,G.
  TITLE     The mouse kinome: discovery and comparative genomics of all mouse
            protein kinases
  JOURNAL   Proc Natl Acad Sci U S A 101 (32), 11707-11712 (2004)
   PUBMED   15289607
  REMARK    GeneRIF: First described as part of human kinome analysis, named
            Slob after Drosophila ortholog.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            HY164612.1, DQ124708.1, AY274811.1, DQ124707.1, AK296034.1 and
            AL137938.1.
            
            On May 17, 2019 this sequence version replaced NM_017771.4.
            
            Summary: This gene encodes a phox (PX) domain-containing protein
            which may be involved in synaptic transmission and the
            ligand-induced internalization and degradation of epidermal growth
            factors. Variations in this gene may be associated with
            susceptibility to systemic lupus erythematosus (SLE). Alternative
            splicing results in multiple transcript variants. [provided by
            RefSeq, Jan 2014].
            
            Transcript Variant: This variant (1) encodes isoform a (also known
            as isoform 1).
            
            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 :: SRR1803614.217364.1,
                                           SRR1660805.74408.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000356151.7/ ENSP00000348472.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-97                HY164612.1         9-105
            98-768              DQ124708.1         1-671
            769-1000            AY274811.1         771-1002
            1001-1834           DQ124707.1         904-1737
            1835-2890           AK296034.1         1443-2498
            2891-3001           AL137938.1         3637-3747
FEATURES             Location/Qualifiers
     source          1..3001
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p14.3"
     gene            1..3001
                     /gene="PXK"
                     /gene_synonym="MONAKA; SLOB"
                     /note="PX domain containing serine/threonine kinase like"
                     /db_xref="GeneID:54899"
                     /db_xref="HGNC:HGNC:23326"
                     /db_xref="MIM:611450"
     exon            1..199
                     /gene="PXK"
                     /gene_synonym="MONAKA; SLOB"
                     /inference="alignment:Splign:2.1.0"
     CDS             98..1834
                     /gene="PXK"
                     /gene_synonym="MONAKA; SLOB"
                     /note="isoform a is encoded by transcript variant 1; PX
                     domain-containing protein kinase-like protein; PX
                     serine/threonine kinase; PX ser/thr kinase v2; modulator
                     of Na,K-ATPase long form"
                     /codon_start=1
                     /product="PX domain-containing protein kinase-like protein
                     isoform a"
                     /protein_id="NP_060241.2"
                     /db_xref="CCDS:CCDS2889.1"
                     /db_xref="GeneID:54899"
                     /db_xref="HGNC:HGNC:23326"
                     /db_xref="MIM:611450"
                     /translation="MAFMEKPPAGKVLLDDTVPLTAAIEASQSLQSHTEYIIRVQRGI
                     SVENSWQIVRRYSDFDLLNNSLQIAGLSLPLPPKKLIGNMDREFIAERQKGLQNYLNV
                     ITTNHILSNCELVKKFLDPNNYSANYTEIALQQVSMFFRSEPKWEVVEPLKDIGWRIR
                     KKYFLMKIKNQPKERLVLSWADLGPDKYLSDKDFQCLIKLLPSCLHPYIYRVTFATAN
                     ESSALLIRMFNEKGTLKDLIYKAKPKDPFLKKYCNPKKIQGLELQQIKTYGRQILEVL
                     KFLHDKGFPYGHLHASNVMLDGDTCRLLDLENSLLGLPSFYRSYFSQFRKINTLESVD
                     VHCFGHLLYEMTYGRPPDSVPVDSFPPAPSMAVVAVLESTLSCEACKNGMPTISRLLQ
                     MPLFSDVLLTTSEKPQFKIPTKLKEALRIAKECIEKRLIEEQKQIHQHRRLTRAQSHH
                     GSEEERKKRKILARKKSKRSALENSEEHSAKYSNSNNSAGSGASSPLTSPSSPTPPST
                     SGISALPPPPPPPPPPAAPLPPASTEAPAQLSSQAVNGMSRGALLSSIQNFQKGTLRK
                     AKTCDHSAPKIG"
     exon            200..250
                     /gene="PXK"
                     /gene_synonym="MONAKA; SLOB"
                     /inference="alignment:Splign:2.1.0"
     exon            251..298
                     /gene="PXK"
                     /gene_synonym="MONAKA; SLOB"
                     /inference="alignment:Splign:2.1.0"
     exon            299..485
                     /gene="PXK"
                     /gene_synonym="MONAKA; SLOB"
                     /inference="alignment:Splign:2.1.0"
     exon            486..563
                     /gene="PXK"
                     /gene_synonym="MONAKA; SLOB"
                     /inference="alignment:Splign:2.1.0"
     exon            564..637
                     /gene="PXK"
                     /gene_synonym="MONAKA; SLOB"
                     /inference="alignment:Splign:2.1.0"
     exon            638..712
                     /gene="PXK"
                     /gene_synonym="MONAKA; SLOB"
                     /inference="alignment:Splign:2.1.0"
     exon            713..817
                     /gene="PXK"
                     /gene_synonym="MONAKA; SLOB"
                     /inference="alignment:Splign:2.1.0"
     exon            818..919
                     /gene="PXK"
                     /gene_synonym="MONAKA; SLOB"
                     /inference="alignment:Splign:2.1.0"
     exon            920..1081
                     /gene="PXK"
                     /gene_synonym="MONAKA; SLOB"
                     /inference="alignment:Splign:2.1.0"
     exon            1082..1199
                     /gene="PXK"
                     /gene_synonym="MONAKA; SLOB"
                     /inference="alignment:Splign:2.1.0"
     exon            1200..1278
                     /gene="PXK"
                     /gene_synonym="MONAKA; SLOB"
                     /inference="alignment:Splign:2.1.0"
     exon            1279..1327
                     /gene="PXK"
                     /gene_synonym="MONAKA; SLOB"
                     /inference="alignment:Splign:2.1.0"
     exon            1328..1405
                     /gene="PXK"
                     /gene_synonym="MONAKA; SLOB"
                     /inference="alignment:Splign:2.1.0"
     exon            1406..1492
                     /gene="PXK"
                     /gene_synonym="MONAKA; SLOB"
                     /inference="alignment:Splign:2.1.0"
     exon            1493..1562
                     /gene="PXK"
                     /gene_synonym="MONAKA; SLOB"
                     /inference="alignment:Splign:2.1.0"
     exon            1563..1625
                     /gene="PXK"
                     /gene_synonym="MONAKA; SLOB"
                     /inference="alignment:Splign:2.1.0"
     exon            1626..3001
                     /gene="PXK"
                     /gene_synonym="MONAKA; SLOB"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2877..2882
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PXK"
                     /gene_synonym="MONAKA; SLOB"
                     /note="hexamer: ATTAAA"
     regulatory      2891..2896
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PXK"
                     /gene_synonym="MONAKA; SLOB"
                     /note="hexamer: AAGAAA"
     polyA_site      2897
                     /gene="PXK"
                     /gene_synonym="MONAKA; SLOB"
                     /note="major polyA site"
     polyA_site      2933
                     /gene="PXK"
                     /gene_synonym="MONAKA; SLOB"
     regulatory      2965..2970
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PXK"
                     /gene_synonym="MONAKA; SLOB"
                     /note="hexamer: AATAGA"
     polyA_site      3001
                     /gene="PXK"
                     /gene_synonym="MONAKA; SLOB"
ORIGIN      
        1 gttgacagcg gcggcggtgg aaccgggcgg gcggcgggag tcggcgcctc gggttcctac
       61 ctcgcgtccc taggcggcgg cggccgggcg tcccgggatg gccttcatgg agaagccgcc
      121 agccggcaag gtgctgctgg acgacacggt gccgctgaca gcagccatcg aggcgagcca
      181 gagcctgcag tcccacacgg aatatattat tcgagtgcaa agaggaattt ctgtggaaaa
      241 cagctggcag attgttagaa gatacagtga ctttgatttg cttaacaaca gcttacagat
      301 tgcaggccta agtctacctc ttcctcccaa aaaattgatt ggtaacatgg atcgtgaatt
      361 catagctgaa aggcagaaag gtcttcagaa ctatctcaac gtgatcacaa caaatcatat
      421 cttgtctaat tgtgagctgg ttaagaagtt tttagatcca aacaactatt ccgcaaacta
      481 tactgagatt gccttgcaac aggtttccat gttcttccga tcagaaccaa agtgggaggt
      541 ggtggaacct ttgaaagaca taggttggag aataaggaag aaatatttct tgatgaagat
      601 taaaaatcag ccaaaggaac ggctagtgtt aagctgggct gaccttggcc cagacaagta
      661 tttgtcagat aaagattttc agtgtctaat caaacttctg ccttcttgtt tgcaccctta
      721 catctatcgg gttacctttg ccacagctaa tgaatcctca gcgttgctaa ttaggatgtt
      781 taacgaaaag ggaacattga aggatctgat ctacaaggca aaaccaaaag acccatttct
      841 aaagaagtac tgcaacccta agaagattca gggcctggaa ctccagcaaa taaaaacata
      901 tggacggcaa atattagagg tactgaagtt tcttcatgac aagggattcc cttatgggca
      961 tcttcacgcc tccaatgtga tgctcgatgg ggacacttgc cggctgctgg accttgagaa
     1021 ttccttattg ggcctgcctt ccttctaccg atcttatttt tcacaattca ggaaaatcaa
     1081 tacattggaa agtgtggatg tccactgctt tggccactta ctgtatgaaa tgacttatgg
     1141 acgaccgcca gactcggtgc ctgtggactc cttccctcct gccccgtcca tggctgtggt
     1201 ggccgtgttg gagtctacgc tgtcttgtga agcctgtaaa aatggcatgc ctaccatctc
     1261 ccggctctta cagatgccat tattcagcga tgttttacta accacttctg aaaaaccaca
     1321 gtttaagatc cctacaaagt taaaagaggc attgagaatt gccaaagaat gtatagagaa
     1381 gagactaatt gaggaacaga aacagattca ccagcatcga agactgacaa gagctcagtc
     1441 ccaccatgga tctgaggagg aaagaaaaaa aagaaagatt ttagctcgaa agaagtcaaa
     1501 acgatctgct cttgaaaata gtgaagagca ttcagcgaag tacagcaact ccaataattc
     1561 agcaggatct ggggccagct cacctctcac gtccccgtca tcgccaactc caccctctac
     1621 atcagggata tctgcattac ctccacctcc tccacctcca ccaccaccag cagctccctt
     1681 gcctcctgcg agcaccgagg cacctgccca gctctcgtct caggctgtga atggcatgag
     1741 ccgaggggcc ttgctcagct ccatccagaa tttccaaaaa ggaactttga ggaaagccaa
     1801 aacctgtgat cacagtgctc cgaagatcgg ctgaagcttc ctgtttacac ttggagggaa
     1861 aagttctttt ttattcctac tcacccctac cccccaaact accctcttcc tgggaaagta
     1921 attgctgagc cagtacagcc acaaacagta ctattttgca gatgctcatg taagcagctt
     1981 ttcgagagaa ataattcttt aagcagaata aagttaggct ggcattgctc ccttaagatc
     2041 ttgctccttt attaaccctg taaaggagtc ttgtttatcc tctaatggcc aggcttttgg
     2101 gacagcagca tattgaaata ttttcaccaa ctaaaggaaa tagacagaaa aacaatgaca
     2161 atattcaatc acagcagtaa atggcctttg tgttgcaatc ccttctaccc catcagacag
     2221 ctcctagaaa cattcctctt acagttcatt tctctaaagc attttctgat tcttagataa
     2281 ctccaatttt tgctaccttt atcttagaca ttaacactat agcccaaagc atagttactt
     2341 tgctaaatca gaaagcaact gagttctttg ttttctcctc aaatagaatg gggaacgttc
     2401 acaacattct cttaagttct aacaggaata ccattgtggt tatagaactc agggctgcta
     2461 aagcaactac tctagaccca tagttctttt tagttagatg tattgaaaca gacaaaaata
     2521 ttaacatcag aaaaagctct tgccaattag aggatcttct taatcctcag caattaagtt
     2581 tggggtttga ggggggcagg tcattgttac aacagaagta aatttggcat ctatagaaat
     2641 caattatgat ttttgaaaga tttatctaaa tatatcaata tagcatctct ttaatgttag
     2701 tcatttatta gaaagatcct ttatcctgat ttgcttaaac ctttcaataa attgcacttt
     2761 aaaggattat aaataatcca tttaaaaatt caagtacaca catcagtgtt ggttactatg
     2821 cagagaatgt cattgtgtat agtttcatgt aatctgttat gtcagctgta ttttttatta
     2881 aaatcatgtc aagaaaacgt gttgtctgta gcttgacaag atatttcaaa tgagaacttt
     2941 ttgtagcgtc tgttgttagc aaagaataga ttcacacagt ctaaggtttc cttcctacct
     3001 a
//
