LOCUS       NM_001375972            3975 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens aftiphilin (AFTPH), transcript variant 7, mRNA.
ACCESSION   NM_001375972
VERSION     NM_001375972.1
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 3975)
  AUTHORS   Benz,C., Ali,M., Krystkowiak,I., Simonetti,L., Sayadi,A.,
            Mihalic,F., Kliche,J., Andersson,E., Jemth,P., Davey,N.E. and
            Ivarsson,Y.
  TITLE     Proteome-scale mapping of binding sites in the unstructured regions
            of the human proteome
  JOURNAL   Mol Syst Biol 18 (1), e10584 (2022)
   PUBMED   35044719
REFERENCE   2  (bases 1 to 3975)
  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 3975)
  AUTHORS   Zhu,T., Chen,Y., Liu,Z., Leng,Y. and Tian,Y.
  TITLE     Expression profiles and prognostic significance of AFTPH in
            different tumors
  JOURNAL   FEBS Open Bio 10 (12), 2666-2677 (2020)
   PUBMED   33090728
  REMARK    GeneRIF: Expression profiles and prognostic significance of AFTPH
            in different tumors.
REFERENCE   4  (bases 1 to 3975)
  AUTHORS   Lui-Roberts,W.W., Ferraro,F., Nightingale,T.D. and Cutler,D.F.
  TITLE     Aftiphilin and gamma-synergin are required for secretagogue
            sensitivity of Weibel-Palade bodies in endothelial cells
  JOURNAL   Mol Biol Cell 19 (12), 5072-5081 (2008)
   PUBMED   18815278
  REMARK    GeneRIF: Data show that by recruiting aftiphilin/gamma-synergin in
            addition to clathrin, AP-1 coordinates formation of Weibel-Palade
            bodies with their acquisition of a regulated secretory phenotype.
REFERENCE   5  (bases 1 to 3975)
  AUTHORS   Beausoleil,S.A., Villen,J., Gerber,S.A., Rush,J. and Gygi,S.P.
  TITLE     A probability-based approach for high-throughput protein
            phosphorylation analysis and site localization
  JOURNAL   Nat Biotechnol 24 (10), 1285-1292 (2006)
   PUBMED   16964243
REFERENCE   6  (bases 1 to 3975)
  AUTHORS   Hirst,J., Borner,G.H., Harbour,M. and Robinson,M.S.
  TITLE     The aftiphilin/p200/gamma-synergin complex
  JOURNAL   Mol Biol Cell 16 (5), 2554-2565 (2005)
   PUBMED   15758025
  REMARK    GeneRIF: the aftiphilin/p200/gamma-synergin complex facilitates
            AP-1 function
REFERENCE   7  (bases 1 to 3975)
  AUTHORS   Burman,J.L., Wasiak,S., Ritter,B., de Heuvel,E. and McPherson,P.S.
  TITLE     Aftiphilin is a component of the clathrin machinery in neurons
  JOURNAL   FEBS Lett 579 (10), 2177-2184 (2005)
   PUBMED   15811338
REFERENCE   8  (bases 1 to 3975)
  AUTHORS   Beausoleil,S.A., Jedrychowski,M., Schwartz,D., Elias,J.E.,
            Villen,J., Li,J., Cohn,M.A., Cantley,L.C. and Gygi,S.P.
  TITLE     Large-scale characterization of HeLa cell nuclear phosphoproteins
  JOURNAL   Proc Natl Acad Sci U S A 101 (33), 12130-12135 (2004)
   PUBMED   15302935
REFERENCE   9  (bases 1 to 3975)
  AUTHORS   Mattera,R., Ritter,B., Sidhu,S.S., McPherson,P.S. and
            Bonifacino,J.S.
  TITLE     Definition of the consensus motif recognized by gamma-adaptin ear
            domains
  JOURNAL   J Biol Chem 279 (9), 8018-8028 (2004)
   PUBMED   14665628
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC008074.3.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.174377.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968832, SAMEA2147975
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-285               AC008074.3         71107-71391         c
            286-2252            AC008074.3         42310-44276         c
            2253-2404           AC008074.3         28006-28157         c
            2405-2531           AC008074.3         26501-26627         c
            2532-2588           AC008074.3         26040-26096         c
            2589-2649           AC008074.3         16173-16233         c
            2650-2733           AC008074.3         14446-14529         c
            2734-2857           AC008074.3         10174-10297         c
            2858-3975           AC008074.3         2714-3831           c
FEATURES             Location/Qualifiers
     source          1..3975
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p14"
     gene            1..3975
                     /gene="AFTPH"
                     /gene_synonym="Nbla10388"
                     /note="aftiphilin"
                     /db_xref="GeneID:54812"
                     /db_xref="HGNC:HGNC:25951"
                     /db_xref="MIM:619628"
     exon            1..285
                     /gene="AFTPH"
                     /gene_synonym="Nbla10388"
                     /inference="alignment:Splign:2.1.0"
     exon            286..2252
                     /gene="AFTPH"
                     /gene_synonym="Nbla10388"
                     /inference="alignment:Splign:2.1.0"
     CDS             318..3005
                     /gene="AFTPH"
                     /gene_synonym="Nbla10388"
                     /note="isoform g is encoded by transcript variant 7;
                     aftiphilin protein"
                     /codon_start=1
                     /product="aftiphilin isoform g"
                     /protein_id="NP_001362901.1"
                     /db_xref="CCDS:CCDS92770.1"
                     /db_xref="GeneID:54812"
                     /db_xref="HGNC:HGNC:25951"
                     /db_xref="MIM:619628"
                     /translation="MEPDIIRMYSSSPPPLDNGAEDDDDDEFGEFGGFSEVSPSGVGF
                     VDFDTPDYTRPKEEFVPSNHFMPIHEFSENVDSLTSFKSIKNGNDKDITAELSAPVKG
                     QSDVLLSTTSKEIISSEMLATSIDGMERPGNLNKVVEQRQNVGTLESFSPGDFRTNMN
                     VVHQNKQLESCNGEKPPCLEILTNGFAVLETVNPQGTDDLDNVADSKGRKPLSTHSTE
                     YNLDSVPSPAEEFADFATFSKKERIQLEEIECAVLNDREALTIRENNKINRVNELNSV
                     KEVALGRSLDNKGDTDGEDQVCVSEISIVTNRGFSVEKQGLPTLQQDEFLQSGVQSKA
                     WSLVDSADNSEAIRREQCKTEEKLDLLTSKCAHLCMDSVKTSDDEVGSPKEESRKFTN
                     FQSPNIDPTEENDLDDSLSVKNGDSSNDFVTCNDINEDDFGDFGDFGSASGSTPPFVT
                     GTQDSMSDATFEESSEHFPHFSEPGDDFGEFGDINAVSCQEETILTKSDLKQTSDNLS
                     EECQLARKSSGTGTEPVAKLKNGQEGEIGHFDSVPNIQDDCNGFQDSDDFADFSSAGP
                     SQVVDWNAFEDEQKDSCSWAAFGDQQATESHHRKEAWQSHRTDENIDTPGTPKTHSVP
                     SATSKGAVASGHLQESATSVQTALLNRLERIFEACFPSILVPDAEEEVTSLKHLLETS
                     TLPIKTREALPESGELLDVWTELQDIHDAHGLRYQWGGSHSNKKLLSSLGIDTRNILF
                     TGNKKQPVIVPMYAAGLESLPPVQFDWSSSGLTNPLDASGGSTLLNLDFFGPVDDSSS
                     SSSTTIPGVDPELYELTTSKLEISTSSLKVTDAFARLMSTVEKTSTSTRKPKREEHLS
                     EEAIKVIAGLPDLTFMHAKVLMFPATLTPSTSSQEKADG"
     exon            2253..2404
                     /gene="AFTPH"
                     /gene_synonym="Nbla10388"
                     /inference="alignment:Splign:2.1.0"
     exon            2405..2531
                     /gene="AFTPH"
                     /gene_synonym="Nbla10388"
                     /inference="alignment:Splign:2.1.0"
     exon            2532..2588
                     /gene="AFTPH"
                     /gene_synonym="Nbla10388"
                     /inference="alignment:Splign:2.1.0"
     exon            2589..2649
                     /gene="AFTPH"
                     /gene_synonym="Nbla10388"
                     /inference="alignment:Splign:2.1.0"
     exon            2650..2733
                     /gene="AFTPH"
                     /gene_synonym="Nbla10388"
                     /inference="alignment:Splign:2.1.0"
     exon            2734..2857
                     /gene="AFTPH"
                     /gene_synonym="Nbla10388"
                     /inference="alignment:Splign:2.1.0"
     exon            2858..3975
                     /gene="AFTPH"
                     /gene_synonym="Nbla10388"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3955..3960
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AFTPH"
                     /gene_synonym="Nbla10388"
                     /note="hexamer: AATAAA"
     polyA_site      3975
                     /gene="AFTPH"
                     /gene_synonym="Nbla10388"
                     /note="major polyA site"
ORIGIN      
        1 gctgcatgat gggagagtgt gtggagtggg cggggggtct ccgcggagga ggtggaggag
       61 gcggcggcgg cggcggaaga gggcggaggg tagtgggatg ggggtcccgc ggcagcggtg
      121 aaactccggg tgggcgtcca tggtgctgct gcgctgacag ggctgtgagc agccggcctt
      181 ccgctctcac cagttccgcg tcggaataga cggtccttcc ccggggagtc agttcctccc
      241 cgggcccctg agccatgccc atcgcagccg ccccgaagga gccaggtgta aattaattat
      301 ttgaaagcaa ctgaacaatg gagccagaca tcattcgaat gtactcttca tccccaccac
      361 cattagacaa tggagcagag gatgatgatg atgatgaatt tggggaattt ggtgggtttt
      421 cagaagttag cccttctggt gtagggtttg ttgatttcga tacaccagat tatactcgtc
      481 ccaaggaaga gtttgtacct tcaaaccatt ttatgccaat tcatgaattc tcagaaaatg
      541 tagatagcct tacaagcttt aagtccatta aaaatggtaa tgataaggac atcactgctg
      601 aactttctgc tcctgtgaaa ggacagtctg atgttttact ttctaccacc agcaaagaaa
      661 taatttcatc tgaaatgtta gctacttcca ttgatggcat ggaaagacca ggaaatttaa
      721 ataaagtagt ggagcagaga cagaatgttg gaacacttga aagtttctct ccaggagatt
      781 ttagaactaa tatgaatgtt gttcatcaaa acaagcagtt agagagctgc aatggtgaaa
      841 agcctccttg tctggagatt ctaacaaatg ggtttgcagt gttggaaact gtaaatcctc
      901 agggaacaga tgatctggac aatgtagctg attcaaaggg acggaagcct cttagcactc
      961 atagcactga gtataattta gactctgtac ctagtcctgc tgaggaattt gcagattttg
     1021 ccacattttc caaaaaggaa aggatacaat tagaagaaat agaatgtgca gttttaaatg
     1081 atagagaagc actaaccatt cgggaaaaca ataaaattaa tagagtcaat gaactgaatt
     1141 ctgtaaaaga agtggctttg ggtagaagct tggataacaa aggagacact gatggagagg
     1201 atcaggtttg tgtttcagaa ataagcatag tgactaacag aggtttcagt gttgaaaaac
     1261 aaggccttcc aacactgcaa caggatgaat ttttacagtc aggtgttcag tcaaaggctt
     1321 ggagtttggt agactcagct gataattcag aagccattag gagagaacaa tgtaaaactg
     1381 aagaaaaact tgacttactt acttctaaat gtgctcacct atgcatggat tctgttaaaa
     1441 cttctgatga tgaagttggt tctcccaaag aagaaagtag aaagtttact aatttccaaa
     1501 gcccaaacat tgaccccaca gaagaaaatg atttggatga ttctttaagt gtaaaaaatg
     1561 gtgatagtag taatgacttt gtgacttgca atgatatcaa tgaagatgat tttggtgatt
     1621 ttggtgactt tggctctgcc agtggctcaa ctccaccttt tgttactggt actcaagatt
     1681 caatgagtga tgccactttt gaagagtctt cagagcactt tccacatttt agtgaaccag
     1741 gtgatgactt tggagaattt ggggatataa atgctgtttc ttgccaagag gagacaatat
     1801 taacaaagtc agacctaaaa cagacttctg ataatttatc agaagaatgt caattggcaa
     1861 gaaaatctag tggaacaggc actgaacctg ttgcaaaact taaaaatggg caagaaggtg
     1921 agattggaca ttttgattct gtgccaaata ttcaggatga ctgcaatggt tttcaagact
     1981 ctgatgattt tgcagacttc agttcagctg gtcctagcca agttgtagat tggaatgctt
     2041 ttgaggatga acaaaaagat agttgttctt gggctgcttt tggagaccag caggctactg
     2101 aatctcatca tcgaaaggaa gcctggcagt cacataggac agatgaaaat attgatactc
     2161 caggaacccc caaaacgcac agtgtacctt cagcaacttc caaaggagca gttgctagtg
     2221 gccatttaca ggaatcagcc acttcagttc agacagcttt attaaaccgc ctggagcgaa
     2281 ttttcgaagc atgttttcct tccatacttg tccctgatgc tgaagaggaa gttacttccc
     2341 tgaagcactt gctggaaaca agcactttgc caataaaaac gagagaggcc ttacctgaaa
     2401 gtggggaatt gctagatgtg tggactgagc tacaggatat ccatgatgca catggcttga
     2461 gataccagtg gggcggctcc catagcaaca agaagctttt gtcctccttg ggaatagaca
     2521 cccgaaacat tctcttcacg ggcaataaga agcagcctgt tatagtgccc atgtatgcag
     2581 caggattgga gtctctacca cccgtccagt ttgactggag tagcagtggc cttactaacc
     2641 ctttagatgc tagtggaggt tccactcttc tgaaccttga tttctttggg cccgtggatg
     2701 acagtagctc tagcagcagc accacaatcc caggtgtgga tccggagttg tatgagttaa
     2761 caacttctaa gctggaaatc tccacctcaa gcctcaaagt gactgatgca tttgcaagac
     2821 tcatgtctac agtagagaag acaagcacat ctaccaggaa accgaaaaga gaagagcacc
     2881 taagtgaaga agctatcaag gtgatcgctg gccttcctga cttaacattc atgcatgcca
     2941 aggtgttgat gttcccagcc acgttaacac cttccacaag ctctcaagaa aaagcagacg
     3001 gataactgat gtgaattgga cagtttctat tgcttttcct tttttccatc ccttccctac
     3061 catcaaaagc atacctgctc taattaaaaa aaaaaaaaaa aaaaattcaa gttcagctga
     3121 tttgttggta agccgcacta gaaaggtata catagtaatg tatatttatt tacatactga
     3181 agtcctaaat ttatattaga aaaatgtaaa taatcggggg taaacatttt tgaagattta
     3241 ttctttttgt gttgctgggg tgtatacatt tatgtctttg tgaaatacac tggtggtgtc
     3301 cttcttacaa aacttttgaa ataaaaaaaa aactcaaatc ttcactgtct gtgaaatccc
     3361 cttcagtctt ttcagattgc attgactgtc ctcttgattt ttcatattac atgtcaaatt
     3421 acttttgcta tcataaataa gctccaaagt cccccattta attttttttt aattttgtgt
     3481 atgatgggtt tcagatctgg cttttgttaa cattttgggg cttttttaat cttttcaatc
     3541 tggcgtattg ctgtttgacc ttttgcaagg tacttaattg ctcttttgtt atagggtatg
     3601 gatcattgtc agaacttgat tggaggggtt taaagagatt gtgtctgttt aaaatcagta
     3661 tgattcagag aaggaccaaa ttatatgaat gtcttacaat ggaatttact tgttactgat
     3721 ttttttgttc tattgtacca ctattttttg aggattttgc acagtgtaaa atgacataat
     3781 catagattgc tatggtttag gctgtatata cagtgaaaac tatgggtttt aaatgtttgg
     3841 ggaaattcct atggaaaaaa gagagacatg tagaagaacc tctaacaagg ttaatgtgca
     3901 tgcccaaggt cttttgaaat ttcagtgtgt aaatttcctt ttagcttata caaaaataaa
     3961 ataatttaaa agaaa
//
