LOCUS       NM_144671               3114 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens PH domain containing endocytic trafficking adaptor 1
            (PHETA1), transcript variant 2, mRNA.
ACCESSION   NM_144671
VERSION     NM_144671.6
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 3114)
  AUTHORS   Cho,N.H., Cheveralls,K.C., Brunner,A.D., Kim,K., Michaelis,A.C.,
            Raghavan,P., Kobayashi,H., Savy,L., Li,J.Y., Canaj,H., Kim,J.Y.S.,
            Stewart,E.M., Gnann,C., McCarthy,F., Cabrera,J.P., Brunetti,R.M.,
            Chhun,B.B., Dingle,G., Hein,M.Y., Huang,B., Mehta,S.B.,
            Weissman,J.S., Gomez-Sjoberg,R., Itzhak,D.N., Royer,L.A., Mann,M.
            and Leonetti,M.D.
  TITLE     OpenCell: Endogenous tagging for the cartography of human cellular
            organization
  JOURNAL   Science 375 (6585), eabi6983 (2022)
   PUBMED   35271311
REFERENCE   2  (bases 1 to 3114)
  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 3114)
  AUTHORS   Ates,K.M., Wang,T., Moreland,T., Veeranan-Karmegam,R., Ma,M.,
            Jeter,C., Anand,P., Wenzel,W., Kim,H.G., Wolfe,L.A., Stephen,J.,
            Adams,D.R., Markello,T., Tifft,C.J., Settlage,R., Gahl,W.A.,
            Gonsalvez,G.B., Malicdan,M.C., Flanagan-Steet,H. and Pan,Y.A.
  TITLE     Deficiency in the endocytic adaptor proteins PHETA1/2 impairs renal
            and craniofacial development
  JOURNAL   Dis Model Mech 13 (5) (2020)
   PUBMED   32152089
  REMARK    GeneRIF: Deficiency in the endocytic adaptor proteins PHETA1/2
            impairs renal and craniofacial development.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3114)
  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   5  (bases 1 to 3114)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Paulo,J.A., Cannon,J.R., Ting,L.,
            Baltier,K., Colby,G., Gebreab,F., Gygi,M.P., Parzen,H., Szpyt,J.,
            Tam,S., Zarraga,G., Pontano-Vaites,L., Swarup,S., White,A.E.,
            Schweppe,D.K., Rad,R., Erickson,B.K., Obar,R.A., Guruharsha,K.G.,
            Li,K., Artavanis-Tsakonas,S., Gygi,S.P. and Harper,J.W.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   6  (bases 1 to 3114)
  AUTHORS   Nandez,R., Balkin,D.M., Messa,M., Liang,L., Paradise,S., Czapla,H.,
            Hein,M.Y., Duncan,J.S., Mann,M. and De Camilli,P.
  TITLE     A role of OCRL in clathrin-coated pit dynamics and uncoating
            revealed by studies of Lowe syndrome cells
  JOURNAL   Elife 3, e02975 (2014)
   PUBMED   25107275
  REMARK    Publication Status: Online-Only
REFERENCE   7  (bases 1 to 3114)
  AUTHORS   Vinayagam,A., Stelzl,U., Foulle,R., Plassmann,S., Zenkner,M.,
            Timm,J., Assmus,H.E., Andrade-Navarro,M.A. and Wanker,E.E.
  TITLE     A directed protein interaction network for investigating
            intracellular signal transduction
  JOURNAL   Sci Signal 4 (189), rs8 (2011)
   PUBMED   21900206
REFERENCE   8  (bases 1 to 3114)
  AUTHORS   Noakes,C.J., Lee,G. and Lowe,M.
  TITLE     The PH domain proteins IPIP27A and B link OCRL1 to receptor
            recycling in the endocytic pathway
  JOURNAL   Mol Biol Cell 22 (5), 606-623 (2011)
   PUBMED   21233288
  REMARK    GeneRIF: Two novel OCRL1-binding proteins, termed inositol
            polyphosphate phosphatase interacting protein of 27 kDa (IPIP27)A
            and B (also known as Ses1 and 2), that also bind the related
            5-phosphatase Inpp5b, were identified.
REFERENCE   9  (bases 1 to 3114)
  AUTHORS   Swan,L.E., Tomasini,L., Pirruccello,M., Lunardi,J. and De
            Camilli,P.
  TITLE     Two closely related endocytic proteins that share a common
            OCRL-binding motif with APPL1
  JOURNAL   Proc Natl Acad Sci U S A 107 (8), 3511-3516 (2010)
   PUBMED   20133602
  REMARK    GeneRIF: Two closely related endocytic proteins, Ses1 and Ses2,
            which interact with OCRL, were identified. The interaction is
            mediated by a short amino acid motif similar to that used by the
            rab-5 effector APPL1.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CX758147.1, BC034809.1 and
            AC005805.12.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 13, 2020 this sequence version replaced NM_144671.5.
            
            Summary: This gene encodes a protein that localizes to the endosome
            and interacts with the enzyme, inositol polyphosphate 5-phosphatase
            OCRL-1. Alternate splicing results in multiple transcript variants.
            [provided by RefSeq, May 2010].
            
            Transcript Variant: This variant (2) differs in the 5' UTR, lacks a
            portion of the 5' coding region and initiates translation at a
            downstream start codon, compared to variant 1. The encoded isoform
            (2) has a shorter N-terminus, compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC034809.1, SRR11853565.7626.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2144835, SAMEA2147920
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000683047.1/ ENSP00000507123.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-73                CX758147.1         27-99
            74-1338             BC034809.1         1-1265
            1339-1339           AC005805.12        55638-55638         c
            1340-3114           BC034809.1         1267-3041
FEATURES             Location/Qualifiers
     source          1..3114
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q24.12"
     gene            1..3114
                     /gene="PHETA1"
                     /gene_synonym="FAM109A; IPIP27A; SES1"
                     /note="PH domain containing endocytic trafficking adaptor
                     1"
                     /db_xref="GeneID:144717"
                     /db_xref="HGNC:HGNC:26509"
                     /db_xref="MIM:614239"
     exon            1..184
                     /gene="PHETA1"
                     /gene_synonym="FAM109A; IPIP27A; SES1"
                     /inference="alignment:Splign:2.1.0"
     exon            185..329
                     /gene="PHETA1"
                     /gene_synonym="FAM109A; IPIP27A; SES1"
                     /inference="alignment:Splign:2.1.0"
     exon            330..3114
                     /gene="PHETA1"
                     /gene_synonym="FAM109A; IPIP27A; SES1"
                     /inference="alignment:Splign:2.1.0"
     CDS             366..1115
                     /gene="PHETA1"
                     /gene_synonym="FAM109A; IPIP27A; SES1"
                     /note="isoform 2 is encoded by transcript variant 2;
                     protein FAM109A; sesquipedalian-1; family with sequence
                     similarity 109 member A; 27 kDa inositol polyphosphate
                     phosphatase-interacting protein A"
                     /codon_start=1
                     /product="sesquipedalian-1 isoform 2"
                     /protein_id="NP_653272.2"
                     /db_xref="CCDS:CCDS9152.1"
                     /db_xref="GeneID:144717"
                     /db_xref="HGNC:HGNC:26509"
                     /db_xref="MIM:614239"
                     /translation="MKLNERSLAFYATCDAPVDNAGFLYKKGGRHAAYHRRWFVLRGN
                     MLFYFEDAASREPVGVIILEGCTVELVEAAEEFAFAVRFAGTRARTYVLAAESQDAME
                     GWVKALSRASFDYLRLVVRELEQQLAAVRGGGGMALPQPQPQSLPLPPSLPSALAPVP
                     SLPSAPAPVPALPLPRRPSALPPKENGCAVWSTEATFRPGPEPPPPPPRRRASAPHGP
                     LDMAPFARLHECYGQEIRALRGQWLSSRVQP"
     regulatory      3095..3100
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PHETA1"
                     /gene_synonym="FAM109A; IPIP27A; SES1"
                     /note="hexamer: AGTAAA"
     polyA_site      3114
                     /gene="PHETA1"
                     /gene_synonym="FAM109A; IPIP27A; SES1"
                     /note="major polyA site"
ORIGIN      
        1 gtccggttgc tcccgcctcc ttccgtcgga tccgcgctct cccgcggctg cgccggcccg
       61 gccgcccagg agacaaagcg ctgccgccgc cgtcgccgcc accgggccag tcccgaacca
      121 tggccgggcc accccgcaac ctcgcgcctc ccgtcccgtc gccgccctag gcctgcgctg
      181 cgagatgcag aaacagaggc ccagagagat gaatagcctg cctggggtcc cccagcccag
      241 atgctgcaga gctgacattt gaatccagag aagagcgagc tgaggctgga gctgagcaga
      301 gggcagggag gcaagtggtg gcctgagagg ccccaggctc ccctccaggc cccgcgattg
      361 ccaccatgaa gctgaacgag cgcagcctgg ccttctacgc cacctgtgac gccccggtgg
      421 acaatgcagg cttcctgtac aagaagggtg ggcggcacgc ggcctaccac cggcgctggt
      481 tcgtgctgcg cgggaacatg ctcttctact tcgaggacgc tgccagccgt gagcccgtgg
      541 gcgtcatcat cctggagggc tgcactgtgg agctggtgga ggccgccgag gagttcgcct
      601 tcgctgtgcg ctttgcgggg acccgggcgc gcacctacgt gctggccgct gagagtcagg
      661 atgccatgga gggctgggtc aaggccctgt cgcgtgccag cttcgactac ctgcggctgg
      721 tggtgcgcga gctggagcag cagctggcgg ctgtacgtgg cgggggtggc atggccctgc
      781 cccagcccca gccccagtcc ctgcccttgc ccccgtccct gccctctgcc ctggccccag
      841 tcccatccct gccttctgcc ccagccccgg tcccagccct gcccctgccc cgccggccca
      901 gtgccctccc gcccaaggag aatggctgcg ctgtctggag cactgaggcc accttcaggc
      961 ctggacccga gccccctcca ccaccgcctc gccgccgggc ctcggcaccc cacgggcccc
     1021 tggacatggc ccccttcgcc cggctgcacg agtgctatgg ccaggagatc cgggccctgc
     1081 gtggccagtg gctcagcagc cgggtccagc cctgaggcca ccagggcgcc tgttttaggg
     1141 ggacacaagc tctatgccct ctgggacagg ccgggtcctg gagagactgg gggagcagat
     1201 cctgagggaa atcatgggca aggctggccc ccaggccctg agtggcctgg ttttggggga
     1261 tgcaggctct gagaaggtgc tggattctga gtgggccttt aggaccatgt gacccagaag
     1321 gcctaccctt gaggggaacg tcacgtgcaa cactaaggag aatccagggc ctgaggggga
     1381 ggtttcctga gaactccggc cccaggctgg cctgagctgc cgggcagagg cctgtgctgg
     1441 caacaggcat tgccgggcct gcagctcaga gggtcactgg gactgagggc gatctgtggc
     1501 ctgaaaagca aatgcacagt tagtgcagct cctgaccagg ccttcagggt ggacagaggg
     1561 aggatcggtc atggcagcca cacctgggcc tggccttgct ccgggacctg ccagaggagc
     1621 tggcctggct ctgtgcctgc ctgcctccag gagcaggacg gtggctggga gggtagtgac
     1681 tggggacaca ggtgcaggtg ttagtgcagg accggaaggg tgaggtggcc tggtcctcgg
     1741 ggctcctggc ctgggctggc tgaggcagga ctctgccaaa agtcccctgc caggcctcat
     1801 ggtggtgctc ctggtggcag tggctctctg gccgcgggcc ctgtctgtgt ctccgtggtg
     1861 gctctcacag ggctctccag acactccttg actgcatcct tcagtcttgg cccctaggcc
     1921 tggggcccct tgggagcttg cctgacctcc cttcctgggc tgggtagcca tggcccgagg
     1981 tgaccttcta gcaggttccc ccagggaggg gaggccacca gctgactcac cgcctaggaa
     2041 ggcccaggtg ctgacctagt ggcggagaaa aagccgcaca ccgagtgtgg cttccagagc
     2101 ccctcttcag ctccaggcag ccccctctaa catgtcccct cctgagctca gcccccaccc
     2161 ccatactcct ggtggggacc aggtcttgct tggcttcggg gctgaccgcc ggtccccttt
     2221 cttctcacca cagtgcccat ttttcatcca gggagaacct cggggctggg acacctcctg
     2281 gccctcaccc tgggtcatgt ttacagtcct cagtgcccca caccggtggc cccctgagga
     2341 cacctccacc ctgaccttga ttttcccaaa cgctgcctct tggtgacaga ctcagcccaa
     2401 aaccccttcc ttctgtctct ggagaccctt gagcttgggg aaatatggag gggtgtgtgt
     2461 ctgcaatcaa ggcctctgca gctcacggct ggcccggtgg gctgggactt ccgtctgaat
     2521 tttaaatact tagggttcat ttttttttct ctggcaacaa agcttgatgt tttcactgct
     2581 ttagtttcct gtttgctggt gggaggggat acggtctgtg actctggact tgctctgggg
     2641 gaacagttgt cactgccccc ggggagaggg gcagcttggg ctggagaagc acagccagag
     2701 acagagcccc tcgagaggga tccttggctg cttcattgtc ttccccccag caagccctgc
     2761 tctccacagg cacctctggg gtcttggtat ggtccccgct cacctccttc cagagtcctg
     2821 agtggtgtgg gtgtgggtgg cacaggatct ggggcatggg aggggttcag agcttcccag
     2881 agccccgtgt cctggcagac tcagctggtg ggctggggtg ttaaccccag tcctggcgta
     2941 ggtttacaga ctctcaaggt acgttggccc tggtctcctg ggagagaggg gtgagggatg
     3001 tcccctacca aagcacaagg tgggatcagg ctgcctcctg ggttgggtgt cgggggagct
     3061 gtccggcagc ctggcaggga gatgcaaggg ctaaagtaaa attttgtcaa gtaa
//
