LOCUS       NM_024666               3132 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens alpha and gamma adaptin binding protein (AAGAB),
            transcript variant 1, mRNA.
ACCESSION   NM_024666
VERSION     NM_024666.5
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 3132)
  AUTHORS   Gram,S.B., Jorgensen,A.S.F., Bygum,A., Brusgaard,K. and
            Ousager,L.B.
  TITLE     Identification of a founder variant AAGAB c.370C>T, p.Arg124Ter in
            patients with punctate palmoplantar keratoderma in Southern Denmark
  JOURNAL   Clin Genet 105 (5), 561-566 (2024)
   PUBMED   38311882
  REMARK    GeneRIF: Identification of a founder variant AAGAB c.370C>T,
            p.Arg124Ter in patients with punctate palmoplantar keratoderma in
            Southern Denmark.
REFERENCE   2  (bases 1 to 3132)
  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   3  (bases 1 to 3132)
  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   4  (bases 1 to 3132)
  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 3132)
  AUTHORS   Elhaji,Y., Hedlin,C., Nath,A., Price,E.L., Gallant,C.,
            Northgrave,S. and Hull,P.R.
  TITLE     AAGAB Mutations in 18 Canadian Families With Punctate Palmoplantar
            Keratoderma and a Possible Link to Cancer
  JOURNAL   J Cutan Med Surg 24 (1), 28-32 (2020)
   PUBMED   31526046
  REMARK    GeneRIF: AAGAB Mutations in 18 Canadian Families With Punctate
            Palmoplantar Keratoderma and a Possible Link to Cancer.
REFERENCE   6  (bases 1 to 3132)
  AUTHORS   Giehl,K.A., Eckstein,G.N., Pasternack,S.M., Praetzel-Wunder,S.,
            Ruzicka,T., Lichtner,P., Seidl,K., Rogers,M., Graf,E., Langbein,L.,
            Braun-Falco,M., Betz,R.C. and Strom,T.M.
  TITLE     Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma
            type Buschke-Fischer-Brauer
  JOURNAL   Am J Hum Genet 91 (4), 754-759 (2012)
   PUBMED   23000146
  REMARK    GeneRIF: Identification of two heterozygous nonsense
            mutations-c.370C>T (p.Arg124) and c.481C>T (p.Arg161)-in AAGAB in
            patients with punctate palmoplantar keratoderma type
            Buschke-Fischer-Brauer.
REFERENCE   7  (bases 1 to 3132)
  AUTHORS   Lei,S.F., Papasian,C.J. and Deng,H.W.
  TITLE     Polymorphisms in predicted miRNA binding sites and osteoporosis
  JOURNAL   J Bone Miner Res 26 (1), 72-78 (2011)
   PUBMED   20641033
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   8  (bases 1 to 3132)
  AUTHORS   Martinez-Mir,A., Zlotogorski,A., Londono,D., Gordon,D., Grunn,A.,
            Uribe,E., Horev,L., Ruiz,I.M., Davalos,N.O., Alayan,O., Liu,J.,
            Gilliam,T.C., Salas-Alanis,J.C. and Christiano,A.M.
  TITLE     Identification of a locus for type I punctate palmoplantar
            keratoderma on chromosome 15q22-q24
  JOURNAL   J Med Genet 40 (12), 872-878 (2003)
   PUBMED   14684683
REFERENCE   9  (bases 1 to 3132)
  AUTHORS   Simpson,J.C., Wellenreuther,R., Poustka,A., Pepperkok,R. and
            Wiemann,S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
REFERENCE   10 (bases 1 to 3132)
  AUTHORS   Page,L.J., Sowerby,P.J., Lui,W.W. and Robinson,M.S.
  TITLE     Gamma-synergin: an EH domain-containing protein that interacts with
            gamma-adaptin
  JOURNAL   J Cell Biol 146 (5), 993-1004 (1999)
   PUBMED   10477754
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA688370.1, BC047026.1,
            BC035852.1, AL136715.1, CB243401.1, BQ185328.1 and AC012568.7.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_024666.4.
            
            Summary: The protein encoded by this gene interacts with the
            gamma-adaptin and alpha-adaptin subunits of complexes involved in
            clathrin-coated vesicle trafficking. Mutations in this gene are
            associated with type I punctate palmoplantar keratoderma.
            Alternatively spliced transcript variants have been found for this
            gene. [provided by RefSeq, Dec 2012].
            
            Transcript Variant: This variant (1) encodes the longer 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 :: SRR1803615.163727.1,
                                           SRR1803614.94777.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000261880.10/ ENSP00000261880.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2                 DA688370.1         76-77
            3-1642              BC047026.1         1-1640
            1643-2127           BC035852.1         1654-2138
            2128-2771           AL136715.1         2113-2756
            2772-3054           CB243401.1         277-559
            3055-3124           BQ185328.1         559-628
            3125-3132           AC012568.7         115922-115929       c
FEATURES             Location/Qualifiers
     source          1..3132
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q23"
     gene            1..3132
                     /gene="AAGAB"
                     /gene_synonym="KPPP1; p34; PPKP1; PPKP1A"
                     /note="alpha and gamma adaptin binding protein"
                     /db_xref="GeneID:79719"
                     /db_xref="HGNC:HGNC:25662"
                     /db_xref="MIM:614888"
     exon            1..103
                     /gene="AAGAB"
                     /gene_synonym="KPPP1; p34; PPKP1; PPKP1A"
                     /inference="alignment:Splign:2.1.0"
     CDS             31..978
                     /gene="AAGAB"
                     /gene_synonym="KPPP1; p34; PPKP1; PPKP1A"
                     /note="isoform 1 is encoded by transcript variant 1;
                     alpha- and gamma-adaptin-binding protein p34; punctate
                     palmoplantar keratoderma type I"
                     /codon_start=1
                     /product="alpha- and gamma-adaptin-binding protein p34
                     isoform 1"
                     /protein_id="NP_078942.3"
                     /db_xref="CCDS:CCDS42050.1"
                     /db_xref="GeneID:79719"
                     /db_xref="HGNC:HGNC:25662"
                     /db_xref="MIM:614888"
                     /translation="MAAGVPCALVTSCSSVFSGDQLVQHILGTEDLIVEVTSNDAVRF
                     YPWTIDNKYYSADINLCVVPNKFLVTAEIAESVQAFVVYFDSTQKSGLDSVSSWLPLA
                     KAWLPEVMILVCDRVSEDGINRQKAQEWCIKHGFELVELSPEELPEEDDDFPESTGVK
                     RIVQALNANVWSNVVMKNDRNQGFSLLNSLTGTNHSIGSADPCHPEQPHLPAADSTES
                     LSDHRGGASNTTDAQVDSIVDPMLDLDIQELASLTTGGGDVENFERLFSKLKEMKDKA
                     ATLPHEQRKVHAEKVAKAFWMAIGGDRDEIEGLSSDEEH"
     exon            104..294
                     /gene="AAGAB"
                     /gene_synonym="KPPP1; p34; PPKP1; PPKP1A"
                     /inference="alignment:Splign:2.1.0"
     exon            295..391
                     /gene="AAGAB"
                     /gene_synonym="KPPP1; p34; PPKP1; PPKP1A"
                     /inference="alignment:Splign:2.1.0"
     exon            392..481
                     /gene="AAGAB"
                     /gene_synonym="KPPP1; p34; PPKP1; PPKP1A"
                     /inference="alignment:Splign:2.1.0"
     exon            482..565
                     /gene="AAGAB"
                     /gene_synonym="KPPP1; p34; PPKP1; PPKP1A"
                     /inference="alignment:Splign:2.1.0"
     exon            566..648
                     /gene="AAGAB"
                     /gene_synonym="KPPP1; p34; PPKP1; PPKP1A"
                     /inference="alignment:Splign:2.1.0"
     exon            649..745
                     /gene="AAGAB"
                     /gene_synonym="KPPP1; p34; PPKP1; PPKP1A"
                     /inference="alignment:Splign:2.1.0"
     exon            746..850
                     /gene="AAGAB"
                     /gene_synonym="KPPP1; p34; PPKP1; PPKP1A"
                     /inference="alignment:Splign:2.1.0"
     exon            851..900
                     /gene="AAGAB"
                     /gene_synonym="KPPP1; p34; PPKP1; PPKP1A"
                     /inference="alignment:Splign:2.1.0"
     exon            901..3132
                     /gene="AAGAB"
                     /gene_synonym="KPPP1; p34; PPKP1; PPKP1A"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2102..2107
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AAGAB"
                     /gene_synonym="KPPP1; p34; PPKP1; PPKP1A"
                     /note="hexamer: AATAAA"
     polyA_site      2127
                     /gene="AAGAB"
                     /gene_synonym="KPPP1; p34; PPKP1; PPKP1A"
                     /note="major polyA site"
     regulatory      2748..2753
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AAGAB"
                     /gene_synonym="KPPP1; p34; PPKP1; PPKP1A"
                     /note="hexamer: ATTAAA"
     regulatory      2766..2771
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AAGAB"
                     /gene_synonym="KPPP1; p34; PPKP1; PPKP1A"
                     /note="hexamer: TATAAA"
     polyA_site      2771
                     /gene="AAGAB"
                     /gene_synonym="KPPP1; p34; PPKP1; PPKP1A"
     polyA_site      2795
                     /gene="AAGAB"
                     /gene_synonym="KPPP1; p34; PPKP1; PPKP1A"
ORIGIN      
        1 gcctgacgga accggctcgc gagcgcagct atggctgctg gcgtaccctg tgcgttagtc
       61 accagctgct cctccgtctt ctcaggagac cagctggtcc aacatatcct tggaacagaa
      121 gatcttattg tggaagtgac ttccaatgat gctgtgagat tttatccctg gaccattgat
      181 aataaatact attcagcaga catcaatcta tgtgtggtgc caaacaaatt tcttgttact
      241 gcagagattg cagaatctgt ccaagcattt gtggtttact ttgacagcac acaaaaatcg
      301 ggccttgata gtgtctcctc atggcttcca ctggcaaaag catggttacc tgaggtgatg
      361 atcttggtct gcgatagagt gtctgaagat ggtataaacc gacaaaaagc tcaagaatgg
      421 tgcatcaaac atggctttga attggtagaa cttagtccag aggagttgcc tgaggaggat
      481 gatgacttcc cagaatctac aggagtaaag cgaattgtcc aagccctgaa tgccaatgtg
      541 tggtccaatg tagtgatgaa gaatgatagg aaccaaggct ttagccttct caactcattg
      601 actggaacaa accatagcat tgggtcagca gatccctgtc acccagagca accccatttg
      661 ccagcagcag atagtactga atccctctct gatcatcggg gtggtgcatc taacacaaca
      721 gatgcccagg ttgatagcat tgtggatccc atgttagatc tggatattca agaattagcc
      781 agtcttacca ctggaggagg agatgtggag aattttgaaa gactcttttc aaagttaaag
      841 gaaatgaaag acaaggctgc gacgcttcct catgagcaaa gaaaagtgca tgcagaaaag
      901 gtggccaaag cattctggat ggcaatcggg ggagacagag atgaaattga aggcctttca
      961 tctgatgaag agcactgaat tattcatact agggtttgac caacaaagat gctagctgtc
     1021 tctgagatac ctctctactc agcccagtca tattttgcca aaattgccct tatcatgttg
     1081 gctgcctgac ttgtttatag ggtcccctta attttagttt ttagtaggag gttaaggaga
     1141 aatctttttt ttcctcagta tattgtaaga gagtgaggaa tacagtgata gtaatgagtg
     1201 aggatttctt aaatatactt tttttttgtt ctaggaatga gggtaggata aatctcagag
     1261 gtctgtgtga tttactcaag ttgaagacaa cctccaggcc attcctggtc aaccttttaa
     1321 gtagcatttc cagcattcac acttgatact gcacatcagg agttgtgtca cctttcctgg
     1381 gtgatttggg ttttctccat tcaaggagct tgtagctctg agctatgatg cttttattgg
     1441 gaggaaagga ggcagctgca gaattgatgt gagctatgtg gggccgaagt ctcagcccgc
     1501 agctaagtct ctacctaaga aaatgcctct gggcattctt ttgaagtata gtgtctgagc
     1561 tcatgctaga aagaatcaaa aagccagtgt ggatttttag actgtaataa atgaggcaaa
     1621 ggatttctat tccagtggga agaaaacctc tctactgagt tgtgggggat atgttgtatg
     1681 ttagagagaa ccttaaggag tccttgtatg ggccatggag acagtatgtg ataacatacc
     1741 gtgattttca tgaagaaatt cttctgtctt agagttctcc cctgctgctt gagatgccag
     1801 agctgtgttg ttgcacacct gcaaaacaag gcacatttcc ccctttctct ttaaagccaa
     1861 agagagatca ctgccaaagt gggagcacta aggggtgggt ggggaagtga aatgttaggc
     1921 gatgaattcc tgagcacctt gtttttcttc caaggttcgt agctcctctc tgcccttcca
     1981 agcctgtaac ctcggaggac tatcttttgt tctttatcct ttgtcttgtt tgagtgggtc
     2041 agccccagag gaactgataa gcaaatggca agtttttaaa ggaagagtgg aaagtactgc
     2101 aaataaaaat ccttatttgt ttttgtagac tttgtaatgc atatcattag ccctcactgt
     2161 gatcattact gctgtggctc tgaactggca catagtacag tggatggaag gtgcccgcac
     2221 accagctgag aactggttct ggcctaggtg ggctctagaa ccatttacac agcatgaaag
     2281 aaacaggttg ggttaggagc agaaagaaat aaggctcaca cccctccaga cactacctta
     2341 taagcactgc agaacctgaa acagatggca gaaggaatgg aatgctacag gggccagcag
     2401 gagtgaccac agggagggga cagctcagtg actggagcat tcaggaagag gctttccagg
     2461 gaacactgga cattgcttag tgaccttttg ttcctttttt tttttttttc ttttactgtt
     2521 ctgaaagact ttgagtctgt ggttcaccac cagcccatca gtgtttcttt gaggtgattg
     2581 cattagggaa gttggctctg ggattgcaaa aaaaaaaaaa aggtggaaca tgttttcctt
     2641 aaaagatgga aggttttaga aaatatacta ggccatctgg ttagaaaaaa cagaccagac
     2701 tagaaaaagc tgtgaatttg attttgtaga ttaaacaaag ccagatgatt aaaatgtgat
     2761 ttatttataa actgtgctaa tgtctattat tatgattttg tggtttttta ttagggggta
     2821 tgagtgaggg aagccctata tccttcattg gattagacat atatagtgaa tagtggaaga
     2881 gtctgtcaag ctcactattt tagaatttac cctgcatatg taatgtcatg tttttaagac
     2941 ctcagctatg cagggatatt ggcctcttct agggacatat gggatgaagg tctctagtga
     3001 aatctactaa aagcccatgt tagaatagtg atcatgagct aacactacag taatagctgc
     3061 agtctatcta aagtgaccta tgttcatgct accacaagtt gttacagaat tgccagctgg
     3121 aatttaaaat aa
//
