LOCUS       NM_001197027            2091 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens pleckstrin homology domain containing A8 (PLEKHA8),
            transcript variant 2, mRNA.
ACCESSION   NM_001197027
VERSION     NM_001197027.2
KEYWORDS    RefSeq.
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 2091)
  AUTHORS   Yuan,T., Wang,J., Shi,C., Wang,Y., Xia,B., Xu,W., Yang,H., Yang,Y.,
            Ye,M.T., Khalid,S., Liang,Y., Tian,C., You,M.J. and Wang,Y.
  TITLE     Downregulation of FAPP2 gene induces cell autophagy and inhibits
            PI3K/AKT/mTOR pathway in T-cell acute lymphoblastic leukemia
  JOURNAL   Hematol Oncol 40 (2), 249-257 (2022)
   PUBMED   34796518
  REMARK    GeneRIF: Downregulation of FAPP2 gene induces cell autophagy and
            inhibits PI3K/AKT/mTOR pathway in T-cell acute lymphoblastic
            leukemia.
REFERENCE   2  (bases 1 to 2091)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   3  (bases 1 to 2091)
  AUTHORS   Fan,W., Du,F. and Liu,X.
  TITLE     Phosphatidylinositol 4-phosphate adaptor protein 2 accelerates the
            proliferation and invasion of hepatocellular carcinoma cells by
            enhancing Wnt/beta-catenin signaling
  JOURNAL   J Bioenerg Biomembr 52 (5), 301-309 (2020)
   PUBMED   32914361
  REMARK    GeneRIF: Phosphatidylinositol 4-phosphate adaptor protein 2
            accelerates the proliferation and invasion of hepatocellular
            carcinoma cells by enhancing Wnt/beta-catenin signaling.
REFERENCE   4  (bases 1 to 2091)
  AUTHORS   Zhu,Q., Dong,Y.C., Zhang,L., Ma,X. and Xia,H.F.
  TITLE     miR-98 is involved in missed abortion by targeting GDF6 and FAPP2
  JOURNAL   Reproduction 159 (5), 525-537 (2020)
   PUBMED   32045359
  REMARK    GeneRIF: miR-98 is involved in missed abortion by targeting GDF6
            and FAPP2.
REFERENCE   5  (bases 1 to 2091)
  AUTHORS   Kong,L. and Dong,L.
  TITLE     FAPP2 Accelerates the Proliferation and Invasion of Hepatocellular
            Carcinoma Cells via Wnt/beta-Catenin Signaling
  JOURNAL   J Environ Pathol Toxicol Oncol 39 (4), 309-316 (2020)
   PUBMED   33389903
  REMARK    GeneRIF: FAPP2 Accelerates the Proliferation and Invasion of
            Hepatocellular Carcinoma Cells via Wnt/beta-Catenin Signaling.
REFERENCE   6  (bases 1 to 2091)
  AUTHORS   Yamaji,T., Kumagai,K., Tomishige,N. and Hanada,K.
  TITLE     Two sphingolipid transfer proteins, CERT and FAPP2: their roles in
            sphingolipid metabolism
  JOURNAL   IUBMB Life 60 (8), 511-518 (2008)
   PUBMED   18459163
  REMARK    Review article
REFERENCE   7  (bases 1 to 2091)
  AUTHORS   D'Angelo,G., Polishchuk,E., Di Tullio,G., Santoro,M., Di Campli,A.,
            Godi,A., West,G., Bielawski,J., Chuang,C.C., van der Spoel,A.C.,
            Platt,F.M., Hannun,Y.A., Polishchuk,R., Mattjus,P. and De
            Matteis,M.A.
  TITLE     Glycosphingolipid synthesis requires FAPP2 transfer of
            glucosylceramide
  JOURNAL   Nature 449 (7158), 62-67 (2007)
   PUBMED   17687330
  REMARK    GeneRIF: by coupling the synthesis of glycosphingolipids with their
            export to the cell surface, FAPP2 emerges as crucial in determining
            the lipid identity and composition of the plasma membrane
REFERENCE   8  (bases 1 to 2091)
  AUTHORS   Vieira,O.V., Gaus,K., Verkade,P., Fullekrug,J., Vaz,W.L. and
            Simons,K.
  TITLE     FAPP2, cilium formation, and compartmentalization of the apical
            membrane in polarized Madin-Darby canine kidney (MDCK) cells
  JOURNAL   Proc Natl Acad Sci U S A 103 (49), 18556-18561 (2006)
   PUBMED   17116893
  REMARK    GeneRIF: Data demonstrate FAPP2 is required for cilium formation in
            polarized MDCK cells.
REFERENCE   9  (bases 1 to 2091)
  AUTHORS   Vieira,O.V., Verkade,P., Manninen,A. and Simons,K.
  TITLE     FAPP2 is involved in the transport of apical cargo in polarized
            MDCK cells
  JOURNAL   J Cell Biol 170 (4), 521-526 (2005)
   PUBMED   16103222
  REMARK    GeneRIF: FAPP2 plays a specific role in apical transport in MDCK
            cells.
REFERENCE   10 (bases 1 to 2091)
  AUTHORS   Godi,A., Di Campli,A., Konstantakopoulos,A., Di Tullio,G.,
            Alessi,D.R., Kular,G.S., Daniele,T., Marra,P., Lucocq,J.M. and De
            Matteis,M.A.
  TITLE     FAPPs control Golgi-to-cell-surface membrane traffic by binding to
            ARF and PtdIns(4)P
  JOURNAL   Nat Cell Biol 6 (5), 393-404 (2004)
   PUBMED   15107860
  REMARK    GeneRIF: Data show that FAPP1 and 2 are essential components of a
            phosphatidylinositol 4-phosphate- and ADP-ribosylation
            factor-regulated machinery that controls generation of constitutive
            post-Golgi carriers.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC007285.3, AK294857.1, AI168153.1 and AC007036.3.
            
            On Aug 13, 2020 this sequence version replaced NM_001197027.1.
            
            Transcript Variant: This variant (2) contains an alternate 3'
            terminal exon, compared to variant 1. The resulting protein
            (isoform 2) is shorter and has a distinct C-terminus, compared to
            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 :: SRR14038195.1457723.1,
                                           SRR11853559.29277.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1                 AC007285.3         66765-66765
            2-1651              AK294857.1         2-1651
            1652-2089           AI168153.1         8-445               c
            2090-2091           AC007036.3         16280-16281
FEATURES             Location/Qualifiers
     source          1..2091
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p14.3"
     gene            1..2091
                     /gene="PLEKHA8"
                     /gene_synonym="FAPP2"
                     /note="pleckstrin homology domain containing A8"
                     /db_xref="GeneID:84725"
                     /db_xref="HGNC:HGNC:30037"
                     /db_xref="MIM:608639"
     exon            1..391
                     /gene="PLEKHA8"
                     /gene_synonym="FAPP2"
                     /inference="alignment:Splign:2.1.0"
     CDS             352..1731
                     /gene="PLEKHA8"
                     /gene_synonym="FAPP2"
                     /note="isoform 2 is encoded by transcript variant 2;
                     pleckstrin homology domain-containing family A member 8;
                     phosphoinositol 4-phosphate adapter protein 2;
                     serologically defined breast cancer antigen NY-BR-86;
                     phosphatidylinositol-four-phosphate adapter protein 2; PH
                     domain-containing family A member 8; pleckstrin homology
                     domain containing, family A (phosphoinositide binding
                     specific) member 8; phosphatidylinositol 4-phosphate
                     adaptor protein-2"
                     /codon_start=1
                     /product="pleckstrin homology domain-containing family A
                     member 8 isoform 2"
                     /protein_id="NP_001183956.1"
                     /db_xref="CCDS:CCDS75574.1"
                     /db_xref="GeneID:84725"
                     /db_xref="HGNC:HGNC:30037"
                     /db_xref="MIM:608639"
                     /translation="MEGVLYKWTNYLSGWQPRWFLLCGGILSYYDSPEDAWKGCKGSI
                     QMAVCEIQVHSVDNTRMDLIIPGEQYFYLKARSVAERQRWLVALGSAKACLTDSRTQK
                     EKEFAENTENLKTKMSELRLYCDLLVQQVDKTKEVTTTGVSNSEEGIDVGTLLKSTCN
                     TFLKTLEECMQIANAAFTSELLYRTPPGSPQLAMLKSSKMKHPIIPIHNSLERQMELS
                     TCENGSLNMEINGEEEILMKNKNSLYLKSAEIDCSISSEENTDDNITVQGEIRKEDGM
                     ENLKNHDNNLTQSGSDSSCSPECLWEEGKEVIPTFFSTMNTSFSDIELLEDSGIPTEA
                     FLASCYAVVPVLDKLGPTVFAPVKMDLVGNIKKVNQKYITNKEEFTTLQKIVLHEVEA
                     DVAQVRNSATEALLWLKRGLKFLKGFLTEVKNGEKDIQTALNNAYGKTLRQHHGWVVR
                     GVFAGHTNV"
     exon            392..508
                     /gene="PLEKHA8"
                     /gene_synonym="FAPP2"
                     /inference="alignment:Splign:2.1.0"
     exon            509..664
                     /gene="PLEKHA8"
                     /gene_synonym="FAPP2"
                     /inference="alignment:Splign:2.1.0"
     exon            665..789
                     /gene="PLEKHA8"
                     /gene_synonym="FAPP2"
                     /inference="alignment:Splign:2.1.0"
     exon            790..948
                     /gene="PLEKHA8"
                     /gene_synonym="FAPP2"
                     /inference="alignment:Splign:2.1.0"
     exon            949..989
                     /gene="PLEKHA8"
                     /gene_synonym="FAPP2"
                     /inference="alignment:Splign:2.1.0"
     exon            990..1147
                     /gene="PLEKHA8"
                     /gene_synonym="FAPP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1148..1304
                     /gene="PLEKHA8"
                     /gene_synonym="FAPP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1305..1390
                     /gene="PLEKHA8"
                     /gene_synonym="FAPP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1391..1449
                     /gene="PLEKHA8"
                     /gene_synonym="FAPP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1450..1580
                     /gene="PLEKHA8"
                     /gene_synonym="FAPP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1581..1651
                     /gene="PLEKHA8"
                     /gene_synonym="FAPP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1652..1713
                     /gene="PLEKHA8"
                     /gene_synonym="FAPP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1714..2091
                     /gene="PLEKHA8"
                     /gene_synonym="FAPP2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2069..2074
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PLEKHA8"
                     /gene_synonym="FAPP2"
                     /note="hexamer: AATAAA"
     polyA_site      2091
                     /gene="PLEKHA8"
                     /gene_synonym="FAPP2"
                     /note="major polyA site"
ORIGIN      
        1 ggtgcgccgt ggcgccgcct gcgaccggca gctcgttcgc cgcactttgg aggcttcggc
       61 tgcccctccg acccacgtag ggcccggacc cgggcctcct tgtgaacagc gtgccggctt
      121 cgccccacgg gttcaccggc tggctgggct tcaagcgccg aggccgccgc agtgaccccg
      181 cccccgggcc gaggatgtga ggcgggccgg gcgtccccac accgggcccg ggcgccggga
      241 gtgggcgtct gggcagcgcc aggcgatggc cctgctgctg gtgctcctcg cctcttgggg
      301 cctggggcag tgagggggcc ggcgggcgtg ggccgagtgg ccgcgggcgc catggagggg
      361 gtgctgtaca agtggaccaa ctatctgagc ggttggcagc ctcgatggtt ccttctctgt
      421 gggggaatat tgtcctatta tgattctcct gaagatgcct ggaaaggttg caaagggagc
      481 atacaaatgg cagtctgtga aattcaagtt cattctgtag ataatacacg catggacctg
      541 ataatccctg gggaacagta tttctacctg aaggccagaa gtgtggctga aagacagcgg
      601 tggctggtgg ccctgggatc agccaaggct tgcctgactg acagtaggac ccagaaggag
      661 aaagagtttg ctgaaaacac tgaaaacttg aaaaccaaaa tgtcagaact aagactctac
      721 tgtgacctcc ttgttcagca agtagataaa acaaaagaag tgaccacaac tggtgtgtcc
      781 aattctgagg agggaattga tgtgggaact ttgctgaaat caacctgtaa tacttttctg
      841 aagaccttgg aagaatgcat gcagatcgca aatgcagcct tcacctctga gctgctctac
      901 cgcactccac caggatcacc tcagctggcc atgctcaagt ccagcaagat gaaacatcct
      961 attataccaa ttcataattc attggaaagg caaatggagt tgagcacttg tgaaaatgga
     1021 tctttaaata tggaaataaa tggtgaggaa gaaatcctaa tgaaaaataa gaattcctta
     1081 tatttgaaat ctgcagagat agactgcagc atatcaagtg aggaaaatac agatgataat
     1141 ataacagtcc aaggtgaaat aaggaaggaa gatggaatgg aaaacctgaa aaatcatgac
     1201 aataacttga ctcagtctgg atcagactca agttgctctc cggaatgcct ctgggaggaa
     1261 ggcaaagaag ttatcccaac tttctttagt accatgaaca caagctttag tgacattgaa
     1321 cttctggaag acagtggcat tcccacagaa gcattcttgg catcatgtta tgctgtggtt
     1381 ccagtattag acaaacttgg ccctacagtg tttgctcctg ttaagatgga tcttgttgga
     1441 aatattaaga aagtaaatca gaagtatata accaacaaag aagagtttac cactctccag
     1501 aagatagtgc tgcacgaagt ggaggcggat gtagcccagg ttaggaactc agcgactgaa
     1561 gccctcttgt ggctgaagag aggtctcaaa tttttgaagg gatttttgac agaagtgaaa
     1621 aatggggaga aggatatcca gacagcccta aataatgcat atggtaaaac attgcggcaa
     1681 caccatggct gggtagttcg aggggttttt gcgggacaca caaatgtctg atggtggccc
     1741 aggagggctg tcactcagaa tcaggcgggt gcagagtggc ctgcaggaca tgatgaccca
     1801 gcatgagaca ggatgcatca catctgggtg acgcctctct ccaggggatc agcctggact
     1861 aaatgcctct cctgggccag gatgcccagc aagccccgag atgcctcctg gagagaagga
     1921 agtatgtgag agtatcctga gttaagtgag atctaaaatg cctgagaaaa ccctgaaatg
     1981 actgagtcta tctggaactt atttgattgt ttttctgcca tcagatagaa tgaggtctca
     2041 aaagagaaat taaattatat tacaagaaaa taaagctcaa ttgcttgcct a
//
