LOCUS       NM_020904               3073 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens pleckstrin homology domain containing A4 (PLEKHA4),
            transcript variant 1, mRNA.
ACCESSION   NM_020904
VERSION     NM_020904.3
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 3073)
  AUTHORS   He,Y., Zheng,W., Huo,Y., Sa,L., Zhang,H., He,G. and Shang,P.
  TITLE     PLEKHA4 promotes glioblastoma progression through apoptosis
            inhibition, tumor cell migration, and macrophage infiltration
  JOURNAL   Immunobiology 228 (6), 152746 (2023)
   PUBMED   37980830
  REMARK    GeneRIF: PLEKHA4 promotes glioblastoma progression through
            apoptosis inhibition, tumor cell migration, and macrophage
            infiltration.
REFERENCE   2  (bases 1 to 3073)
  AUTHORS   Gao,X., Liu,Y., Hong,S., Yang,H., Guan,B. and Ma,X.
  TITLE     PLEKHA4 is Associated with Tumour Microenvironment, Stemness,
            Proliferation and Poor Prognosis of Gliomas
  JOURNAL   J Integr Neurosci 22 (5), 135 (2023)
   PUBMED   37735118
  REMARK    GeneRIF: PLEKHA4 is Associated with Tumour Microenvironment,
            Stemness, Proliferation and Poor Prognosis of Gliomas.
REFERENCE   3  (bases 1 to 3073)
  AUTHORS   Zhang,W., Li,L., Bian,P.P., Luo,Q.P. and Xiong,Z.T.
  TITLE     PLEKHA4 Is a Prognostic Biomarker and Correlated with Immune
            Infiltrates in Glioma
  JOURNAL   Biomed Res Int 2023, 4504474 (2023)
   PUBMED   36714030
  REMARK    GeneRIF: PLEKHA4 Is a Prognostic Biomarker and Correlated with
            Immune Infiltrates in Glioma.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3073)
  CONSRTM   COVID-19 Host Genetics Initiative
  TITLE     A first update on mapping the human genetic architecture of
            COVID-19
  JOURNAL   Nature 608 (7921), E1-E10 (2022)
   PUBMED   35922517
REFERENCE   5  (bases 1 to 3073)
  CONSRTM   COVID-19 Host Genetics Initiative
  TITLE     Mapping the human genetic architecture of COVID-19
  JOURNAL   Nature 600 (7889), 472-477 (2021)
   PUBMED   34237774
REFERENCE   6  (bases 1 to 3073)
  AUTHORS   Shami Shah,A., Cao,X., White,A.C. and Baskin,J.M.
  TITLE     PLEKHA4 Promotes Wnt/beta-Catenin Signaling-Mediated G1-S
            Transition and Proliferation in Melanoma
  JOURNAL   Cancer Res 81 (8), 2029-2043 (2021)
   PUBMED   33574086
  REMARK    GeneRIF: PLEKHA4 Promotes Wnt/beta-Catenin Signaling-Mediated G1-S
            Transition and Proliferation in Melanoma.
REFERENCE   7  (bases 1 to 3073)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   8  (bases 1 to 3073)
  AUTHORS   Shami Shah,A., Batrouni,A.G., Kim,D., Punyala,A., Cao,W., Han,C.,
            Goldberg,M.L., Smolka,M.B. and Baskin,J.M.
  TITLE     PLEKHA4/kramer Attenuates Dishevelled Ubiquitination to Modulate
            Wnt and Planar Cell Polarity Signaling
  JOURNAL   Cell Rep 27 (7), 2157-2170 (2019)
   PUBMED   31091453
  REMARK    GeneRIF: PLEKHA4/kramer Attenuates Dishevelled Ubiquitination to
            Modulate Wnt and Planar Cell Polarity Signaling.
REFERENCE   9  (bases 1 to 3073)
  AUTHORS   Yu,X., Noll,R.R., Romero Duenas,B.P., Allgood,S.C., Barker,K.,
            Caplan,J.L., Machner,M.P., LaBaer,J., Qiu,J. and Neunuebel,M.R.
  TITLE     Legionella effector AnkX interacts with host nuclear protein
            PLEKHN1
  JOURNAL   BMC Microbiol 18 (1), 5 (2018)
   PUBMED   29433439
  REMARK    Publication Status: Online-Only
REFERENCE   10 (bases 1 to 3073)
  AUTHORS   Dowler,S., Currie,R.A., Campbell,D.G., Deak,M., Kular,G.,
            Downes,C.P. and Alessi,D.R.
  TITLE     Identification of pleckstrin-homology-domain-containing proteins
            with novel phosphoinositide-binding specificities
  JOURNAL   Biochem J 351 (Pt 1), 19-31 (2000)
   PUBMED   11001876
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC026803.7 and BC024157.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_020904.2.
            
            Summary: This gene encodes a pleckstrin homology (PH)
            domain-containing protein. The PH domain is found near the
            N-terminus and contains a putative phosphatidylinositol 3, 4,
            5-triphosphate-binding motif (PPBM). Elevated expression of this
            gene has been observed in some melanomas. Alternate splicing
            results in multiple transcript variants encoding different
            isoforms. [provided by RefSeq, May 2017].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer 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 :: BC024157.2, AY007233.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            coronavirus related    :: locus in the vicinity of
                                      disease-associated variant(s)
            MANE Ensembl match     :: ENST00000263265.11/ ENSP00000263265.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-171               AC026803.7         105781-105951       c
            172-3073            BC024157.2         162-3063
FEATURES             Location/Qualifiers
     source          1..3073
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.33"
     gene            1..3073
                     /gene="PLEKHA4"
                     /gene_synonym="PEPP1"
                     /note="pleckstrin homology domain containing A4"
                     /db_xref="GeneID:57664"
                     /db_xref="HGNC:HGNC:14339"
                     /db_xref="MIM:607769"
     exon            1..535
                     /gene="PLEKHA4"
                     /gene_synonym="PEPP1"
                     /inference="alignment:Splign:2.1.0"
     exon            536..625
                     /gene="PLEKHA4"
                     /gene_synonym="PEPP1"
                     /inference="alignment:Splign:2.1.0"
     CDS             542..2881
                     /gene="PLEKHA4"
                     /gene_synonym="PEPP1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     phosphoinositol 3-phosphate-binding PH domain protein 1;
                     pleckstrin homology domain-containing family A member 4;
                     PH domain-containing family A member 4; pleckstrin
                     homology domain containing, family A (phosphoinositide
                     binding specific) member 4"
                     /codon_start=1
                     /product="pleckstrin homology domain-containing family A
                     member 4 isoform 1"
                     /protein_id="NP_065955.2"
                     /db_xref="CCDS:CCDS12737.1"
                     /db_xref="GeneID:57664"
                     /db_xref="HGNC:HGNC:14339"
                     /db_xref="MIM:607769"
                     /translation="MEGSRPRSSLSLASSASTISSLSSLSPKKPTRAVNKIHAFGKRG
                     NALRRDPNLPVHIRGWLHKQDSSGLRLWKRRWFVLSGHCLFYYKDSREESVLGSVLLP
                     SYNIRPDGPGAPRGRRFTFTAEHPGMRTYVLAADTLEDLRGWLRALGRASRAEGDDYG
                     QPRSPARPQPGEGPGGPGGPPEVSRGEEGRISESPEVTRLSRGRGRPRLLTPSPTTDL
                     HSGLQMRRARSPDLFTPLSRPPSPLSLPRPRSAPARRPPAPSGDTAPPARPHTPLSRI
                     DVRPPLDWGPQRQTLSRPPTPRRGPPSEAGGGKPPRSPQHWSQEPRTQAHSGSPTYLQ
                     LPPRPPGTRASMVLLPGPPLESTFHQSLETDTLLTKLCGQDRLLRRLQEEIDQKQEEK
                     EQLEAALELTRQQLGQATREAGAPGRAWGRQRLLQDRLVSVRATLCHLTQERERVWDT
                     YSGLEQELGTLRETLEYLLHLGSPQDRVSAQQQLWMVEDTLAGLGGPQKPPPHTEPDS
                     PSPVLQGEESSERESLPESLELSSPRSPETDWGRPPGGDKDLASPHLGLGSPRVSRAS
                     SPEGRHLPSPQLGTKAPVARPRMSAQEQLERMRRNQECGRPFPRPTSPRLLTLGRTLS
                     PARRQPDVEQRPVVGHSGAQKWLRSSGSWSSPRNTTPYLPTSEGHRERVLSLSQALAT
                     EASQWHRMMTGGNLDSQGDPLPGVPLPPSDPTRQETPPPRSPPVANSGSTGFSRRGSG
                     RGGGPTPWGPAWDAGIAPPVLPQDEGAWPLRVTLLQSSF"
     exon            626..733
                     /gene="PLEKHA4"
                     /gene_synonym="PEPP1"
                     /inference="alignment:Splign:2.1.0"
     exon            734..806
                     /gene="PLEKHA4"
                     /gene_synonym="PEPP1"
                     /inference="alignment:Splign:2.1.0"
     exon            807..907
                     /gene="PLEKHA4"
                     /gene_synonym="PEPP1"
                     /inference="alignment:Splign:2.1.0"
     exon            908..1017
                     /gene="PLEKHA4"
                     /gene_synonym="PEPP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1018..1233
                     /gene="PLEKHA4"
                     /gene_synonym="PEPP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1234..1513
                     /gene="PLEKHA4"
                     /gene_synonym="PEPP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1514..1588
                     /gene="PLEKHA4"
                     /gene_synonym="PEPP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1589..1636
                     /gene="PLEKHA4"
                     /gene_synonym="PEPP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1637..1717
                     /gene="PLEKHA4"
                     /gene_synonym="PEPP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1718..1867
                     /gene="PLEKHA4"
                     /gene_synonym="PEPP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1868..1966
                     /gene="PLEKHA4"
                     /gene_synonym="PEPP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1967..2107
                     /gene="PLEKHA4"
                     /gene_synonym="PEPP1"
                     /inference="alignment:Splign:2.1.0"
     exon            2108..2207
                     /gene="PLEKHA4"
                     /gene_synonym="PEPP1"
                     /inference="alignment:Splign:2.1.0"
     exon            2208..2284
                     /gene="PLEKHA4"
                     /gene_synonym="PEPP1"
                     /inference="alignment:Splign:2.1.0"
     exon            2285..2446
                     /gene="PLEKHA4"
                     /gene_synonym="PEPP1"
                     /inference="alignment:Splign:2.1.0"
     exon            2447..2505
                     /gene="PLEKHA4"
                     /gene_synonym="PEPP1"
                     /inference="alignment:Splign:2.1.0"
     exon            2506..2618
                     /gene="PLEKHA4"
                     /gene_synonym="PEPP1"
                     /inference="alignment:Splign:2.1.0"
     exon            2619..3073
                     /gene="PLEKHA4"
                     /gene_synonym="PEPP1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3054..3059
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PLEKHA4"
                     /gene_synonym="PEPP1"
                     /note="hexamer: ATTAAA"
     polyA_site      3073
                     /gene="PLEKHA4"
                     /gene_synonym="PEPP1"
                     /note="major polyA site"
ORIGIN      
        1 agcagagagg aaagagaaac tgggagaggg aggaagggag aaagtgagaa gggaaatcgg
       61 aaagagaaaa gggaggaaac ggcagagcca gagagaaaga ggaagagact gagtgtgaag
      121 gagagaggac acaggggatg actgagagac agagagagag agagagagag aatgagacag
      181 agacttaagg aagagaccct gtgagtctga caataaaaga tttggacaga aacagaaaga
      241 ttggagagag agagagaggg agagaatgag tgagagagag actggaagag acagagatca
      301 gagggagaca cagaaagtga gagtggggag agaggtagtg taaaaggaag agagagagag
      361 agagaccgta agagacagga gacaaagaga caaaaagtgt gagtgagcag gtgaggagag
      421 agattgagaa ctatgagaga cagcagctaa gagacaaagg aggcgggaga ctgcctaggt
      481 gccgcagcac ccacaccgtc ctcttgcccc cccgtcactg ggaccccaga gctggccctt
      541 gatggagggg agccgacctc gcagcagcct gagcctggcc agcagcgcct ccaccatctc
      601 ctcgctcagc agcctgagcc ccaagaagcc cacccgggca gtaaacaaga tccacgcctt
      661 tgggaagaga ggcaatgcgc tcaggaggga tcccaacctt cccgtgcaca tccgaggctg
      721 gcttcataag caggacagct cggggctccg tctctggaaa cgccgctggt tcgtcctctc
      781 cggccattgc ctcttttatt acaaggacag ccgcgaggag agtgtcctag gcagcgtcct
      841 gctccccagc tacaatatta gaccagatgg gccgggagcc ccccgagggc ggcgcttcac
      901 cttcaccgca gagcacccgg gcatgaggac ctacgttttg gccgctgaca ccttagaaga
      961 cctgcggggc tggctacggg cgctgggccg ggcctcccgt gcggaggggg acgactatgg
     1021 gcaacccagg tcacctgcac gaccccagcc cggggagggc cccggcggcc ccggtggtcc
     1081 cccggaggtg agcagagggg aagaggggcg catctcagaa tcaccggaag tgactcgact
     1141 ctccagaggt cgtggtagac ccaggctgct cactcccagc cccacaaccg acctccactc
     1201 tggactccag atgcggaggg cgaggagccc cgacctgttc acccccctct ctcgccctcc
     1261 ctcgcctctg agcctccccc gtccccgttc tgcccctgcg cggcgacccc ctgccccctc
     1321 aggagacaca gcaccccctg cccgacctca caccccgttg agtcgcattg atgtccgacc
     1381 tcctctggat tggggccccc aacgccagac cctctcccga ccccctactc cccgccgagg
     1441 acctccctct gaggctgggg gaggaaagcc ccccaggagt ccccagcact ggagtcagga
     1501 gcccagaaca caggcacact ctggctcccc cacttatctc cagctccccc cgcggccccc
     1561 tgggacccgg gcctccatgg ttttattgcc gggtcctccc ctggagtcaa ctttccacca
     1621 aagcttggag acagatacgc tgctgaccaa gttgtgcggg caggaccggc ttctgcggag
     1681 gctgcaggag gagatagacc agaagcagga ggagaaggag caactagaag cagctctgga
     1741 gttgacccgg caacagctgg gccaagccac cagggaggct ggggctcccg ggagggcctg
     1801 gggtcgccag cgcctcttgc aggaccggct ggtcagtgtg agggccaccc tctgtcactt
     1861 gactcaggag cgagagaggg tttgggacac gtacagtggc ctggagcagg agctgggcac
     1921 cttaagagag acgctggagt acctgctgca ccttggttct ccccaggaca gagtgtctgc
     1981 tcagcagcag ctgtggatgg tggaagacac gctggcaggt ctgggtggcc cccagaaacc
     2041 gcccccacac actgagcctg actccccatc tcccgtgctc cagggcgagg agtcctcaga
     2101 gagggagagc ctgccagagt ccttggaact gagctcccct aggtcccccg agactgactg
     2161 ggggcggcct cctggaggcg acaaagacct cgccagccct cacttaggtc ttgggtctcc
     2221 gagggtctcc cgggcttcca gccctgaggg tcgccacctc ccttccccac agctaggaac
     2281 caaggccccg gtggcccggc cccggatgag tgcccaggag cagctggagc ggatgcgcag
     2341 aaaccaggaa tgtggacggc ccttccctcg cccgacctcc ccccggcttc tcaccctggg
     2401 aaggacactg tccccagcca gacgccagcc tgacgtggag caaaggcctg tcgtaggaca
     2461 ctcgggagcc cagaaatggc tcagaagctc tgggtcctgg agtagtccaa ggaacaccac
     2521 cccttacttg ccgacttccg aaggtcaccg ggagcgggtt ctcagcctct cccaagccct
     2581 ggctactgag gcgtcgcagt ggcacagaat gatgacaggt ggaaatttgg actcccaggg
     2641 agaccctctt cccggtgtgc cgctgcctcc ttcggacccc acgcgccagg agacccctcc
     2701 ccccagatct cccccggtgg ctaattcggg ttccacgggg ttctctcgcc gagggagtgg
     2761 gcgtggagga ggtcccaccc cctgggggcc cgcgtgggat gccgggatcg cccctccggt
     2821 cctgccacaa gacgaggggg catggcctct gcgagtcact ctgctacaat ccagcttcta
     2881 atccgcccaa aagcggcagc caatcggagc gcgaggacgt ggtctggagg taccgccgga
     2941 gatctgggac cactcagggc atcagggggc gtggtctggt ccccattgcg ggcccgggag
     3001 gggaatggtt tctatggcca aagtttggtt ttctcaacac tgtctaaatt tggattaaaa
     3061 ctttgaactt tta
//
