LOCUS       NM_024310               1699 bp    mRNA    linear   PRI 05-APR-2024
DEFINITION  Homo sapiens pleckstrin homology and FYVE domain containing 1
            (PLEKHF1), mRNA.
ACCESSION   NM_024310
VERSION     NM_024310.5
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 1699)
  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   2  (bases 1 to 1699)
  AUTHORS   Lin,W.J., Yang,C.Y., Li,L.L., Yi,Y.H., Chen,K.W., Lin,Y.C.,
            Liu,C.C. and Lin,C.H.
  TITLE     Lysosomal targeting of phafin1 mediated by Rab7 induces
            autophagosome formation
  JOURNAL   Biochem Biophys Res Commun 417 (1), 35-42 (2012)
   PUBMED   22115783
  REMARK    GeneRIF: The results suggest that in addition to its role in
            endosome transport, phafin1 is also involved in lysosomal targeting
            and autophagosome formation.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AY037145.2 and BC018876.2.
            
            On Nov 22, 2018 this sequence version replaced NM_024310.4.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.593749.1,
                                           SRR3476690.974448.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000436066.4/ ENSP00000389787.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-5                 AY037145.2         406-410
            6-1699              BC018876.2         1-1694
FEATURES             Location/Qualifiers
     source          1..1699
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q12"
     gene            1..1699
                     /gene="PLEKHF1"
                     /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15"
                     /note="pleckstrin homology and FYVE domain containing 1"
                     /db_xref="GeneID:79156"
                     /db_xref="HGNC:HGNC:20764"
                     /db_xref="MIM:615200"
     exon            1..45
                     /gene="PLEKHF1"
                     /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15"
                     /inference="alignment:Splign:2.1.0"
     exon            46..1699
                     /gene="PLEKHF1"
                     /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15"
                     /inference="alignment:Splign:2.1.0"
     CDS             62..901
                     /gene="PLEKHF1"
                     /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15"
                     /note="apoptosis-inducing protein D; phafin 1; PH
                     domain-containing family F member 1; PH and FYVE
                     domain-containing protein 1; zinc finger FYVE
                     domain-containing protein 15; lysosome-associated
                     apoptosis-inducing protein containing PH and FYVE domains;
                     pleckstrin homology domain containing, family F (with FYVE
                     domain) member 1"
                     /codon_start=1
                     /product="pleckstrin homology domain-containing family F
                     member 1"
                     /protein_id="NP_077286.3"
                     /db_xref="CCDS:CCDS12417.1"
                     /db_xref="GeneID:79156"
                     /db_xref="HGNC:HGNC:20764"
                     /db_xref="MIM:615200"
                     /translation="MVDHLANTEINSQRIAAVESCFGASGQPLALPGRVLLGEGVLTK
                     ECRKKAKPRIFFLFNDILVYGSIVLNKRKYRSQHIIPLEEVTLELLPETLQAKNRWMI
                     KTAKKSFVVSAASATERQEWISHIEECVRRQLRATGRPPSTEHAAPWIPDKATDICMR
                     CTQTRFSALTRRHHCRKCGFVVCAECSRQRFLLPRLSPKPVRVCSLCYRELAAQQRQE
                     EAEEQGAGSPGQPAHLARPICGASSGDDDDSDEDKEGSRDGDWPSSVEFYASGVAWSA
                     FHS"
     regulatory      1659..1664
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PLEKHF1"
                     /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15"
                     /note="hexamer: AATAAA"
     regulatory      1666..1671
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PLEKHF1"
                     /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15"
                     /note="hexamer: AAGAAA"
     polyA_site      1680
                     /gene="PLEKHF1"
                     /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15"
     polyA_site      1699
                     /gene="PLEKHF1"
                     /gene_synonym="APPD; LAPF; PHAFIN1; ZFYVE15"
                     /note="major polyA site"
ORIGIN      
        1 actgcggtgt ggactcgagg gctgggcgcg gggccggcgc agaagccgcc agctggagac
       61 gatggtggac cacttggcca acacggagat caacagccag cgcatcgcgg cagtggagag
      121 ctgcttcggg gcctcggggc agccgctggc gctgccaggc cgagtgctgc tgggcgaggg
      181 cgtgctgacc aaagagtgcc gcaagaaggc caagccgcgc atcttcttcc tctttaacga
      241 catcctggtg tatggcagca tcgtgctcaa caagcgcaag taccgcagcc agcacatcat
      301 ccccctggag gaggtcacac tggagctgtt gccggagacg ctgcaggcca agaaccgctg
      361 gatgatcaag acggccaaga agtcctttgt ggtgtcggcc gcctccgcta cggagcgcca
      421 ggaatggatt agccacatcg aggagtgcgt gcggcggcaa ctgagggcca cgggccgccc
      481 gcccagcacg gagcacgcgg caccctggat ccccgacaag gccacggaca tctgcatgcg
      541 ctgcacgcag acgcgcttct ctgccctcac gaggcgccac cactgccgca agtgcggctt
      601 cgtggtctgc gctgagtgct cgcgccagcg cttcctgctc ccgcgcctgt cccccaagcc
      661 cgtgcgcgtc tgcagcctct gctaccgcga actggccgcc cagcagcggc aggaggaggc
      721 ggaggagcag ggcgcggggt ccccagggca gccagcccac ctggcccggc ccatctgcgg
      781 agcgtccagt ggagatgacg atgactccga cgaggacaag gagggcagca gggacggcga
      841 ctggcccagc agcgtggagt tctacgcctc gggggtggcc tggtctgcct tccacagctg
      901 acccccggcc tgcagaacat ctgtccccaa gccagctcca ctgcccaggc ccccaagagg
      961 gcagctccag aagctgccca gggctccggg accccatccc atggtggcag gtgcagcggt
     1021 ggggagtggc tctttctgga ctcccagtgc ctttttgctg gacactgtgt ccttatggct
     1081 tcactgcagg taatgccttt cccttcagga agccccagaa cacccacagg tcttggtaac
     1141 aaacgccacc ttacactctg caggctgcag cggcagctcc agatggcctc ctgagctgga
     1201 cgaccccagg tctccagaca tctagggacc agagcaggtt tgggaacaca gagggaagac
     1261 aggatgggag tgtagccaca gaacccacct gcaccctgac aggcacaccc cactgaagag
     1321 cctgagtccc aggaggcctc ctggaagccc aggactgccc acccaccacg ctggtgccca
     1381 ccgcctggcc agccaagccc tgccgatcag acatgtgggc tccccgaagc ccagccagag
     1441 actgccgtgc tgtgggtgcc accaggccca gggactgcag cctgagctcc ccgaggccca
     1501 gggcagccgg gtgaggactc tgtcctgtgt cacctctctc caggtgtcca gctgtctcat
     1561 gcctttttgt cctgtcctca gctctccgtg tggtcagcga aaccattgtt ttctgttagg
     1621 actcagttgc aagaacagaa accctgcccc cacttaataa taaaaaagaa agtttattga
     1681 tgggtggttg caaaacaaa
//
