LOCUS       NM_001198979            2568 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens small ArfGAP2 (SMAP2), transcript variant 2, mRNA.
ACCESSION   NM_001198979
VERSION     NM_001198979.2
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 2568)
  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 2568)
  AUTHORS   Matsudaira,T., Niki,T., Taguchi,T. and Arai,H.
  TITLE     Transport of the cholera toxin B-subunit from recycling endosomes
            to the Golgi requires clathrin and AP-1
  JOURNAL   J Cell Sci 128 (16), 3131-3142 (2015)
   PUBMED   26136365
  REMARK    GeneRIF: SMAP2 immunoprecipitated clathrin and AP-1 through a
            putative clathrin-binding domain and a CALM-binding domain, and
            SMAP2 mutants that did not interact with clathrin or AP-1 could not
            localize to recycling endosomes
REFERENCE   3  (bases 1 to 2568)
  AUTHORS   Kobayashi,N., Kon,S., Henmi,Y., Funaki,T., Satake,M. and Tanabe,K.
  TITLE     The Arf GTPase-activating protein SMAP1 promotes transferrin
            receptor endocytosis and interacts with SMAP2
  JOURNAL   Biochem Biophys Res Commun 453 (3), 473-479 (2014)
   PUBMED   25281535
  REMARK    GeneRIF: Results also demonstrated a physical association between
            SMAP1 and SMAP2, which might serve as a basis for a functional
            interaction, and identified the intramolecular domains responsible
            for this association
REFERENCE   4  (bases 1 to 2568)
  AUTHORS   Deng,X., Sabino,E.C., Cunha-Neto,E., Ribeiro,A.L., Ianni,B.,
            Mady,C., Busch,M.P. and Seielstad,M.
  CONSRTM   REDSII Chagas Study Group from the NHLBI Retrovirus Epidemiology
            Donor Study-II Component International
  TITLE     Genome wide association study (GWAS) of Chagas cardiomyopathy in
            Trypanosoma cruzi seropositive subjects
  JOURNAL   PLoS One 8 (11), e79629 (2013)
   PUBMED   24324551
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2568)
  AUTHORS   Sakakura,I., Tanabe,K., Nouki,N., Suzuki,M., Satake,M. and
            Watanabe,T.
  TITLE     The carboxy-terminal region of SMAP2 directs subcellular
            localization as well as Arf protein specificity
  JOURNAL   Biochem Biophys Res Commun 404 (2), 661-666 (2011)
   PUBMED   21147065
  REMARK    GeneRIF: In the current study, there were identified sequences in
            the carboxy-terminal region of SMAP2 that are critical for its
            specific subcellular localization and its specificity for Arf
            proteins.
REFERENCE   6  (bases 1 to 2568)
  AUTHORS   Kim,J.Y., Kim,J.H., Park,B.L., Cheong,H.S., Park,J.S., Jang,A.S.,
            Uh,S.T., Choi,J.S., Kim,Y.H., Kim,M.K., Choi,I.S., Cho,S.H.,
            Choi,B.W., Park,C.S. and Shin,H.D.
  TITLE     Putative association of SMAPIL polymorphisms with risk of aspirin
            intolerance in asthmatics
  JOURNAL   J Asthma 47 (9), 959-965 (2010)
   PUBMED   20831471
  REMARK    GeneRIF: analyses revealed that three common polymorphisms,
            rs2982510, rs2294752, and rs446738, were putatively associated with
            the increased susceptibility to AIA
            GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   7  (bases 1 to 2568)
  AUTHORS   Natsume,W., Tanabe,K., Kon,S., Yoshida,N., Watanabe,T., Torii,T.
            and Satake,M.
  TITLE     SMAP2, a novel ARF GTPase-activating protein, interacts with
            clathrin and clathrin assembly protein and functions on the
            AP-1-positive early endosome/trans-Golgi network
  JOURNAL   Mol Biol Cell 17 (6), 2592-2603 (2006)
   PUBMED   16571680
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK308280.1, BC021133.1 and BC014512.1.
            
            On Aug 14, 2020 this sequence version replaced NM_001198979.1.
            
            Transcript Variant: This variant (2) has an alternate 5' exon
            compared to variant 1. The resulting isoform (2) has a shorter and
            distinct N-terminus, as compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK308280.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2153031, SAMN03465420
                                           [ECO:0000348]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-513               AK308280.1         1-513
            514-1984            BC021133.1         522-1992
            1985-2568           BC014512.1         1682-2265
FEATURES             Location/Qualifiers
     source          1..2568
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.2"
     gene            1..2568
                     /gene="SMAP2"
                     /gene_synonym="SMAP1L"
                     /note="small ArfGAP2"
                     /db_xref="GeneID:64744"
                     /db_xref="HGNC:HGNC:25082"
                     /db_xref="MIM:616916"
     exon            1..160
                     /gene="SMAP2"
                     /gene_synonym="SMAP1L"
                     /inference="alignment:Splign:2.1.0"
     CDS             73..1347
                     /gene="SMAP2"
                     /gene_synonym="SMAP1L"
                     /note="isoform 2 is encoded by transcript variant 2;
                     stromal membrane-associated GTPase-activating protein 2;
                     stromal membrane-associated protein 2"
                     /codon_start=1
                     /product="stromal membrane-associated protein 2 isoform 2"
                     /protein_id="NP_001185908.1"
                     /db_xref="CCDS:CCDS72763.1"
                     /db_xref="GeneID:64744"
                     /db_xref="HGNC:HGNC:25082"
                     /db_xref="MIM:616916"
                     /translation="MGKVGRARFAQKDVLQIEEIGPVKLFVRDWPRWASWNIGVFICI
                     RCAGIHRNLGVHISRVKSVNLDQWTQEQIQCMQEMGNGKANRLYEAYLPETFRRPQID
                     PAVEGFIRDKYEKKKYMDRSLDINAFRKEKDDKWKRGSEPVPEKKLEPVVFEKVKMPQ
                     KKEDPQLPRKSSPKSTAPVMDLLGLDAPVACSIANSKTSNTLEKDLDLLASVPSPSSS
                     GSRKVVGSMPTAGSAGSVPENLNLFPEPGSKSEEIGKKQLSKDSILSLYGSQTPQMPT
                     QAMFMAPAQMAYPTAYPSFPGVTPPNSIMGSMMPPPVGMVAQPGASGMVAPMAMPAGY
                     MGGMQASMMGVPNGMMTTQQAGYMAGMAAMPQTVYGVQPAQQLQWNLTQMTQQMAGMN
                     FYGANGMMNYGQSMSGGNGQAANQTLSPQMWK"
     exon            161..294
                     /gene="SMAP2"
                     /gene_synonym="SMAP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            295..380
                     /gene="SMAP2"
                     /gene_synonym="SMAP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            381..459
                     /gene="SMAP2"
                     /gene_synonym="SMAP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            460..546
                     /gene="SMAP2"
                     /gene_synonym="SMAP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            547..628
                     /gene="SMAP2"
                     /gene_synonym="SMAP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            629..738
                     /gene="SMAP2"
                     /gene_synonym="SMAP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            739..904
                     /gene="SMAP2"
                     /gene_synonym="SMAP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            905..1221
                     /gene="SMAP2"
                     /gene_synonym="SMAP1L"
                     /inference="alignment:Splign:2.1.0"
     exon            1222..2568
                     /gene="SMAP2"
                     /gene_synonym="SMAP1L"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2551..2556
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SMAP2"
                     /gene_synonym="SMAP1L"
                     /note="hexamer: AATAAA"
     polyA_site      2568
                     /gene="SMAP2"
                     /gene_synonym="SMAP1L"
                     /note="major polyA site"
ORIGIN      
        1 acaaatgagt gagtgcagca ggagaggcag cagagcgccg tgggagttgg aataggaagg
       61 agaaaaggct tcatggggaa agtgggcaga gcaagatttg cacaaaaaga tgttttgcaa
      121 atagaggaaa taggccctgt aaagctattt gtgagagact ggccgcgatg ggcctcttgg
      181 aacattggtg tgttcatctg cattcgatgt gctggaatcc acaggaatct gggggtgcac
      241 atatccaggg taaagtcagt taacctcgac cagtggactc aagaacagat tcagtgcatg
      301 caagagatgg gaaatggaaa ggcaaaccga ctttatgaag cctatcttcc tgagaccttt
      361 cggcgacctc agatagaccc agctgttgaa ggatttattc gagacaaata tgagaagaag
      421 aaatacatgg accgaagtct ggacatcaat gcctttagga aagaaaaaga tgacaagtgg
      481 aaaagaggga gcgaaccagt tccagaaaaa aaattggaac ctgttgtttt tgagaaggtg
      541 aaaatgccac agaaaaaaga agacccacag ctacctcgga aaagctcccc gaaatccaca
      601 gcgcctgtca tggatttgtt gggccttgat gctcctgtgg cctgctccat tgcaaatagt
      661 aagaccagca ataccctaga gaaggattta gatctgttgg cctctgttcc atccccttct
      721 tcttccggtt ccagaaaggt tgtaggttcc atgccaactg cagggagtgc cggctctgtt
      781 cctgaaaatc tgaacctgtt tccggagcca gggagcaaat cagaagaaat aggcaagaaa
      841 cagctctcta aagactccat tctttcactg tatggatccc agacgcctca aatgcctact
      901 caagcaatgt tcatggctcc cgctcagatg gcatatccca cagcctaccc cagcttcccc
      961 ggggttacac ctcctaacag cataatgggg agcatgatgc ctccaccagt aggcatggtt
     1021 gctcagccag gagcttctgg gatggttgcc cccatggcca tgcctgcagg ctatatgggt
     1081 ggcatgcagg catcaatgat gggtgtgccg aatggaatga tgaccaccca gcaggctggc
     1141 tacatggcag gcatggcagc tatgccccag actgtgtatg gggtccagcc agctcagcag
     1201 ctgcaatgga accttactca gatgacccag cagatggctg ggatgaactt ctatggagcc
     1261 aatggcatga tgaactatgg acagtcaatg agtggcggaa atggacaggc agcaaatcag
     1321 actctcagtc ctcagatgtg gaaataaaaa caaaacacct gtatggctgc cattctcttc
     1381 agccctcgct ctcccctttc cacagcctcc acccctgacc cccatcctct tttcctacct
     1441 ctctgtttgg tttagaaatt gctcaataag tcatttgggg tttggcatcc tgcccagcca
     1501 cttcccaaac atgaagacct ctctgttgct ttatgttgta catgccccat agccatccca
     1561 acgtcctccc cagtcctctc ctggcaccag caccttagaa gttgttggca gaaggcactt
     1621 aaactgtggg agaagtgtgc acacctttga gtcccttccc tcaaggttaa agctcctgtc
     1681 agactctcag aagggtctgt gggtgttgta tattaggcaa acaggggaaa gcttagaggt
     1741 ccttctatat gtgttaataa gctgtttcta agtgtttaaa tttgaaaagc atcatgttct
     1801 catgatttat gggaatgaag caagtactga aatcaaatta aatactccct gggtcctggg
     1861 tcagtttgac cctagccctg gggtgaggca agccccctcc tatgaggatg agcaaaaata
     1921 ctactctctt cgccctgagt tgctttctgg atctggggct tcaggacttg ctgcttcagt
     1981 cagcctttat tagcaccaaa gactttatga agatcccaca cacagacaca catcccttcc
     2041 cgcctccccc ctgccttcag taggatctgg ctccgtggct ggaggaccaa cccctatagt
     2101 gggaatgcag agcttaacgt gtactgcttg tgtgtgtgcg tgagtgtgtg tgtgtgtatg
     2161 agtgtgtgtt ccgcctccca ccctctcccc atctgctctg ggtatttttg tttttgttta
     2221 gttttaggtt tacaacagag aggaattaat ttatcagcag cctaaaactg ttgtgttttt
     2281 cttatggttt aaaaaacgcc atgtcattga taactccctt tctcccttcc cttctcccgg
     2341 tctgctgatc actctttcat gcctgtgtat ccagggtgct ctgtttcccc accgttccca
     2401 ggtgtacgag gcagagggcc gggacagctt tcctctcagt cattgttcac cccacttgaa
     2461 aattcagaca agaaaacttt gcttaaaaga tttcatgtgt gggaaccaca gttcctggct
     2521 gcctttctcc tgtgtatgtg taaattcctt aataaatatt gcagggaa
//
