LOCUS       NM_001002034            2335 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens PH domain containing endocytic trafficking adaptor 2
            (PHETA2), mRNA.
ACCESSION   NM_001002034 XM_086826
VERSION     NM_001002034.3
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 2335)
  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   2  (bases 1 to 2335)
  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   3  (bases 1 to 2335)
  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   4  (bases 1 to 2335)
  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   5  (bases 1 to 2335)
  AUTHORS   Yachie,N., Petsalaki,E., Mellor,J.C., Weile,J., Jacob,Y., Verby,M.,
            Ozturk,S.B., Li,S., Cote,A.G., Mosca,R., Knapp,J.J., Ko,M., Yu,A.,
            Gebbia,M., Sahni,N., Yi,S., Tyagi,T., Sheykhkarimli,D., Roth,J.F.,
            Wong,C., Musa,L., Snider,J., Liu,Y.C., Yu,H., Braun,P.,
            Stagljar,I., Hao,T., Calderwood,M.A., Pelletier,L., Aloy,P.,
            Hill,D.E., Vidal,M. and Roth,F.P.
  TITLE     Pooled-matrix protein interaction screens using Barcode Fusion
            Genetics
  JOURNAL   Mol Syst Biol 12 (4), 863 (2016)
   PUBMED   27107012
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2335)
  CONSRTM   Schizophrenia Working Group of the Psychiatric Genomics Consortium
  TITLE     Biological insights from 108 schizophrenia-associated genetic loci
  JOURNAL   Nature 511 (7510), 421-427 (2014)
   PUBMED   25056061
REFERENCE   7  (bases 1 to 2335)
  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   8  (bases 1 to 2335)
  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.
REFERENCE   9  (bases 1 to 2335)
  AUTHORS   Collins,J.E., Wright,C.L., Edwards,C.A., Davis,M.P., Grinham,J.A.,
            Cole,C.G., Goward,M.E., Aguado,B., Mallya,M., Mokrab,Y.,
            Huckle,E.J., Beare,D.M. and Dunham,I.
  TITLE     A genome annotation-driven approach to cloning the human ORFeome
  JOURNAL   Genome Biol 5 (10), R84 (2004)
   PUBMED   15461802
REFERENCE   10 (bases 1 to 2335)
  AUTHORS   Dunham,I., Shimizu,N., Roe,B.A., Chissoe,S., Hunt,A.R.,
            Collins,J.E., Bruskiewich,R., Beare,D.M., Clamp,M., Smink,L.J.,
            Ainscough,R., Almeida,J.P., Babbage,A., Bagguley,C., Bailey,J.,
            Barlow,K., Bates,K.N., Beasley,O., Bird,C.P., Blakey,S.,
            Bridgeman,A.M., Buck,D., Burgess,J., Burrill,W.D., O'Brien,K.P. et
            al.
  TITLE     The DNA sequence of human chromosome 22
  JOURNAL   Nature 402 (6761), 489-495 (1999)
   PUBMED   10591208
  REMARK    Erratum:[Nature 2000 Apr 20;404(6780):904]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            Z99716.4, BX648402.1 and Z82192.1.
            
            On Nov 22, 2018 this sequence version replaced NM_001002034.2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BX648402.1, SRR1660807.30377.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000321753.8/ ENSP00000312753.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3                 Z99716.4           217488-217490
            4-752               BX648402.1         1-749
            753-1576            Z82192.1           301-1124
            1577-2335           BX648402.1         1580-2338
FEATURES             Location/Qualifiers
     source          1..2335
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.2"
     gene            1..2335
                     /gene="PHETA2"
                     /gene_synonym="FAM109B; IPIP27B; Ses2"
                     /note="PH domain containing endocytic trafficking adaptor
                     2"
                     /db_xref="GeneID:150368"
                     /db_xref="HGNC:HGNC:27161"
                     /db_xref="MIM:614240"
     exon            1..94
                     /gene="PHETA2"
                     /gene_synonym="FAM109B; IPIP27B; Ses2"
                     /inference="alignment:Splign:2.1.0"
     exon            95..176
                     /gene="PHETA2"
                     /gene_synonym="FAM109B; IPIP27B; Ses2"
                     /inference="alignment:Splign:2.1.0"
     exon            177..2335
                     /gene="PHETA2"
                     /gene_synonym="FAM109B; IPIP27B; Ses2"
                     /inference="alignment:Splign:2.1.0"
     CDS             191..970
                     /gene="PHETA2"
                     /gene_synonym="FAM109B; IPIP27B; Ses2"
                     /note="27 kDa inositol polyphosphate phosphatase
                     interacting protein B; inositol polyphosphate
                     phosphatase-interacting protein B; family with sequence
                     similarity 109 member B"
                     /codon_start=1
                     /product="sesquipedalian-2"
                     /protein_id="NP_001002034.2"
                     /db_xref="CCDS:CCDS33655.1"
                     /db_xref="GeneID:150368"
                     /db_xref="HGNC:HGNC:27161"
                     /db_xref="MIM:614240"
                     /translation="MKLNERSVAHYALSDSPADHMGFLRTWGGPGTPPTPSGTGRRCW
                     FVLKGNLLFSFESREGRAPLSLVVLEGCTVELAEAPVPEEFAFAICFDAPGVRPHLLA
                     AEGPAAQEAWVKVLSRASFGYMRLVVRELESQLQDARQSLALQRRSSWKSVASRCKPQ
                     APNHRAAGLENGHCLSKDSSPVGLVEEAGSRSAGWGLAEWELQGPASLLLGKGQSPVS
                     PETSCFSTLHDWYGQEIVELRQCWQKRAQGSHSKCEEQDRP"
     regulatory      2315..2320
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PHETA2"
                     /gene_synonym="FAM109B; IPIP27B; Ses2"
                     /note="hexamer: AGTAAA"
     polyA_site      2335
                     /gene="PHETA2"
                     /gene_synonym="FAM109B; IPIP27B; Ses2"
                     /note="major polyA site"
ORIGIN      
        1 cccggctccc gcggccacgt tgcagcccag gcggaggcgc gggatctcga gctgggatcg
       61 ccctcttggg cttcggtgcg atcggcggcg ggaggttccc tgggaaccag gtggtcgaag
      121 ggctgagctg tgtggccaga caagaggtcc ctgccctccc ccagtgagcc ctgctgttcc
      181 cgtgggagcc atgaagctga acgagaggag tgtagcccac tatgcactca gcgactcccc
      241 agcggaccac atgggcttcc tgcgcacctg ggggggccca gggaccccac cgacccccag
      301 tggcactggc cgaagatgct ggtttgtcct caagggcaac ctgctattct cctttgagag
      361 tcgcgagggc cgggccccac tgagcctggt ggtgctggaa ggctgcacag tggaactggc
      421 cgaggctccc gtgcccgagg agtttgcctt tgccatctgc tttgatgccc ctggagtgcg
      481 cccacacctg ctggccgcag aagggccggc ggcccaggag gcctgggtga aggtgctgtc
      541 ccgggcaagc tttggctaca tgcgcctggt ggtacgcgag ttggagagcc agttgcagga
      601 cgcacgccag agcctggctt tgcaacgccg ctcatcctgg aagtctgttg ccagccgctg
      661 taagccccag gctcctaacc accgagctgc gggcctggag aatggccact gcctctccaa
      721 ggacagcagc cctgtgggct tggttgaaga agcgggcagc aggtctgcag ggtgggggtt
      781 ggctgagtgg gagctgcagg gccctgccag cctcctccta ggcaaggggc agagccctgt
      841 gtcccctgag acctcctgct tctctaccct gcatgactgg tatggccagg agatcgtgga
      901 gctgcggcag tgttggcaga agagggccca ggggagccac tcaaaatgtg aggaacagga
      961 taggccctaa gtctgggccc tttgagtcag gaaaccaggg ccagttcttt ttcaggagtt
     1021 aaatgtttac ccatttccaa ggttgcgttt tgggagggga catgggttct ctccttcctg
     1081 ctatttaggc attctccagg ttcgagatcc acccgtgtgt ctggaaggga ctgcgggacc
     1141 attccttcca tcctctttat ttcctgaggt ccagagaagg aaggagactt agcagccaca
     1201 gagcaagacc ccaatctcct gactgcactg gcctgactgc cccctcccag gggatgttaa
     1261 tgaaatgaag gaagtgggga atgtcacccg agactgtcac aggcttgcca tacctttggc
     1321 ctacacaccg ggctctagag ccataatttc caacctgggg agtctcctgt gcacttaaat
     1381 ccgaggtagg ctgcagtatc ggcttgaagc tctgacactg tcagagaaag tggatttatt
     1441 gtgtcatagg agtttctggg acccagctct tcctgagagg ggtgggaaga ttggggatgg
     1501 gatcctcact cagcagtctg ggtagggccc tttgaggcag agggtcttcg gccagtgaag
     1561 agagatttat tctgctcaga gtgctggggt cccatccttt ctccctggct gccctgttaa
     1621 cagatggtgc tggaccttgc cccggaaggg gcttgtagct tttttacgtc aacgaaatgc
     1681 cctcctgtac tctgtcttca gcagccaact cctggagctg ccaagtgagg ggttaaagaa
     1741 gaggtgggga ggcagtgtgg ctccctggga aaagtctgtt gctttggttc tcagtcctgg
     1801 gtattctagg agcttggaca cgggattgcg tttcctgtgc taaaattctc tctcctggct
     1861 gggctccggt aaactgaagc tgctcgagaa atcacctggg aactctcata gccgtttgtc
     1921 acccagggtg tacttgccag gacctctcct tgctactctt cccaaagtcg ggaggcaaag
     1981 cggctgggtc accagagcct gaccatactg acgctccagg gggaagacgc agaggccggg
     2041 aagagacacc ccctcccaaa cacataaaac ttgccccttc ctagcctcgg ctcccctcac
     2101 tggggccttg ggcaggaccg acccgcatcc aactaggcct aaggggtagg ctctgagcct
     2161 cttaccccta agaggcggag atgcgcccaa ggcgggcgcc cggcctgttc cccagccctg
     2221 cctggaagcc ccgcagccac tgcattttgt ttaaacacag atagcacggg cctttctctt
     2281 attgctacag tgttttgtac acggttaaaa cactagtaaa gctttttcgt tatta
//
