LOCUS       NP_060241                578 aa            linear   PRI 02-APR-2024
DEFINITION  PX domain-containing protein kinase-like protein isoform a [Homo
            sapiens].
ACCESSION   NP_060241
VERSION     NP_060241.2
DBSOURCE    REFSEQ: accession 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  (residues 1 to 578)
  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  (residues 1 to 578)
  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  (residues 1 to 578)
  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  (residues 1 to 578)
  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  (residues 1 to 578)
  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  (residues 1 to 578)
  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  (residues 1 to 578)
  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  (residues 1 to 578)
  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  (residues 1 to 578)
  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 (residues 1 to 578)
  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 Jun 9, 2003 this sequence version replaced NP_060241.1.
            
            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##
FEATURES             Location/Qualifiers
     source          1..578
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p14.3"
     Protein         1..578
                     /product="PX domain-containing protein kinase-like protein
                     isoform a"
                     /note="PX domain-containing protein kinase-like protein;
                     PX serine/threonine kinase; PX ser/thr kinase v2;
                     modulator of Na,K-ATPase long form"
                     /calculated_mol_wt=64819
     Region          13..132
                     /region_name="PX_MONaKA"
                     /note="The phosphoinositide binding Phox Homology domain
                     of Modulator of Na,K-ATPase; cd06871"
                     /db_xref="CDD:132781"
     Site            order(55..57,78..79,92)
                     /site_type="other"
                     /note="phosphoinositide binding site [chemical binding]"
                     /db_xref="CDD:132781"
     Region          198..345
                     /region_name="Protein Kinases, catalytic domain"
                     /note="The protein kinase superfamily is mainly composed
                     of the catalytic domains of serine/threonine-specific and
                     tyrosine-specific protein kinases. It also includes RIO
                     kinases, which are atypical serine protein kinases,
                     aminoglycoside phosphotransferases; cl21453"
                     /db_xref="CDD:473864"
     Region          437..548
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z7A4.1)"
     Region          545..575
                     /region_name="WH2_DdVASP-like"
                     /note="Wiskott Aldrich syndrome homology region 2 (WH2
                     motif) found in Dictyostelium discoideum
                     Vasodilator-stimulated phosphoprotein (VASP) and similar
                     proteins; cd22062"
                     /db_xref="CDD:409205"
     Site            order(548..549,551..553,555..557,564..567)
                     /site_type="other"
                     /note="actin-binding motif [polypeptide binding]"
                     /db_xref="CDD:409205"
     Region          559..578
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z7A4.1)"
     Region          564..567
                     /region_name="actin-binding sequence"
                     /note="actin-binding sequence [structural motif]"
                     /db_xref="CDD:409205"
     CDS             1..578
                     /gene="PXK"
                     /gene_synonym="MONAKA; SLOB"
                     /coded_by="NM_017771.5:98..1834"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS2889.1"
                     /db_xref="GeneID:54899"
                     /db_xref="HGNC:HGNC:23326"
                     /db_xref="MIM:611450"
ORIGIN      
        1 mafmekppag kvllddtvpl taaieasqsl qshteyiirv qrgisvensw qivrrysdfd
       61 llnnslqiag lslplppkkl ignmdrefia erqkglqnyl nvittnhils ncelvkkfld
      121 pnnysanyte ialqqvsmff rsepkwevve plkdigwrir kkyflmkikn qpkerlvlsw
      181 adlgpdkyls dkdfqclikl lpsclhpyiy rvtfatanes sallirmfne kgtlkdliyk
      241 akpkdpflkk ycnpkkiqgl elqqiktygr qilevlkflh dkgfpyghlh asnvmldgdt
      301 crlldlensl lglpsfyrsy fsqfrkintl esvdvhcfgh llyemtygrp pdsvpvdsfp
      361 papsmavvav lestlsceac kngmptisrl lqmplfsdvl lttsekpqfk iptklkealr
      421 iakeciekrl ieeqkqihqh rrltraqshh gseeerkkrk ilarkkskrs alenseehsa
      481 kysnsnnsag sgasspltsp ssptppstsg isalpppppp ppppaaplpp asteapaqls
      541 sqavngmsrg allssiqnfq kgtlrkaktc dhsapkig
//
