LOCUS       NM_001044305            3214 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens small ArfGAP 1 (SMAP1), transcript variant 1, mRNA.
ACCESSION   NM_001044305
VERSION     NM_001044305.3
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 3214)
  AUTHORS   Harms,J., Luttgenau,S.M., Emming,C., Guske,J., Weber,K., Wagner,T.,
            Schowe,L., Nedvetsky,P. and Krahn,M.P.
  TITLE     Pals1 functions in redundancy with SMAP1 to inhibit Arf6 in order
            to prevent Rac1-dependent colorectal cancer cell migration and
            invasion
  JOURNAL   Cancer Gene Ther 30 (3), 497-506 (2023)
   PUBMED   36494580
  REMARK    GeneRIF: Pals1 functions in redundancy with SMAP1 to inhibit Arf6
            in order to prevent Rac1-dependent colorectal cancer cell migration
            and invasion.
REFERENCE   2  (bases 1 to 3214)
  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   3  (bases 1 to 3214)
  AUTHORS   Ruhle,F., Witten,A., Barysenka,A., Huge,A., Arning,A., Heller,C.,
            Krumpel,A., Mesters,R., Franke,A., Lieb,W., Riemenschneider,M.,
            Hiersche,M., Limperger,V., Nowak-Gottl,U. and Stoll,M.
  TITLE     Rare genetic variants in SMAP1, B3GAT2, and RIMS1 contribute to
            pediatric venous thromboembolism
  JOURNAL   Blood 129 (6), 783-790 (2017)
   PUBMED   28011674
  REMARK    GeneRIF: The study identified a region on chromosome 6 comprising
            the genes SMAP1, B3GAT2, and RIMS1 as novel susceptibility locus
            for pediatric venous thromboembolism.
REFERENCE   4  (bases 1 to 3214)
  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   5  (bases 1 to 3214)
  AUTHORS   Sangar,F., Schreurs,A.S., Umana-Diaz,C., Claperon,A.,
            Desbois-Mouthon,C., Calmel,C., Mauger,O., Zaanan,A., Miquel,C.,
            Flejou,J.F. and Praz,F.
  TITLE     Involvement of small ArfGAP1 (SMAP1), a novel Arf6-specific
            GTPase-activating protein, in microsatellite instability
            oncogenesis
  JOURNAL   Oncogene 33 (21), 2758-2767 (2014)
   PUBMED   23752192
  REMARK    GeneRIF: SMAP1 loss-of-function mutations in microsatellite
            instability colorectal cancer may contribute to the emerging
            oncogenic pathway involving abnormal Arf6 regulation.
REFERENCE   6  (bases 1 to 3214)
  AUTHORS   Tanabe,K., Torii,T., Natsume,W., Braesch-Andersen,S., Watanabe,T.
            and Satake,M.
  TITLE     A novel GTPase-activating protein for ARF6 directly interacts with
            clathrin and regulates clathrin-dependent endocytosis
  JOURNAL   Mol Biol Cell 16 (4), 1617-1628 (2005)
   PUBMED   15659652
  REMARK    GeneRIF: SMAP1 may be an ADP-ribosylation factor 6 (Arf6)GAP that
            specifically regulates one of the multiple functions of Arf6,
            namely, clathrin-dependent endocytosis
REFERENCE   7  (bases 1 to 3214)
  AUTHORS   Barrios-Rodiles,M., Brown,K.R., Ozdamar,B., Bose,R., Liu,Z.,
            Donovan,R.S., Shinjo,F., Liu,Y., Dembowy,J., Taylor,I.W., Luga,V.,
            Przulj,N., Robinson,M., Suzuki,H., Hayashizaki,Y., Jurisica,I. and
            Wrana,J.L.
  TITLE     High-throughput mapping of a dynamic signaling network in mammalian
            cells
  JOURNAL   Science 307 (5715), 1621-1625 (2005)
   PUBMED   15761153
REFERENCE   8  (bases 1 to 3214)
  AUTHORS   Mungall,A.J., Palmer,S.A., Sims,S.K., Edwards,C.A., Ashurst,J.L.,
            Wilming,L., Jones,M.C., Horton,R., Hunt,S.E., Scott,C.E.,
            Gilbert,J.G., Clamp,M.E., Bethel,G., Milne,S., Ainscough,R.,
            Almeida,J.P., Ambrose,K.D., Andrews,T.D., Ashwell,R.I.,
            Babbage,A.K., Bagguley,C.L., Bailey,J., Banerjee,R., Barker,D.J.,
            Barlow,K.F., Bates,K., Beare,D.M., Beasley,H., Beasley,O.,
            Bird,C.P., Blakey,S., Bray-Allen,S., Brook,J., Brown,A.J.,
            Brown,J.Y., Burford,D.C., Burrill,W., Burton,J., Carder,C.,
            Carter,N.P., Chapman,J.C., Clark,S.Y., Clark,G., Clee,C.M.,
            Clegg,S., Cobley,V., Collier,R.E., Collins,J.E., Colman,L.K.,
            Corby,N.R., Coville,G.J., Culley,K.M., Dhami,P., Davies,J.,
            Dunn,M., Earthrowl,M.E., Ellington,A.E., Evans,K.A., Faulkner,L.,
            Francis,M.D., Frankish,A., Frankland,J., French,L., Garner,P.,
            Garnett,J., Ghori,M.J., Gilby,L.M., Gillson,C.J., Glithero,R.J.,
            Grafham,D.V., Grant,M., Gribble,S., Griffiths,C., Griffiths,M.,
            Hall,R., Halls,K.S., Hammond,S., Harley,J.L., Hart,E.A.,
            Heath,P.D., Heathcott,R., Holmes,S.J., Howden,P.J., Howe,K.L.,
            Howell,G.R., Huckle,E., Humphray,S.J., Humphries,M.D., Hunt,A.R.,
            Johnson,C.M., Joy,A.A., Kay,M., Keenan,S.J., Kimberley,A.M.,
            King,A., Laird,G.K., Langford,C., Lawlor,S., Leongamornlert,D.A.,
            Leversha,M., Lloyd,C.R., Lloyd,D.M., Loveland,J.E., Lovell,J.,
            Martin,S., Mashreghi-Mohammadi,M., Maslen,G.L., Matthews,L.,
            McCann,O.T., McLaren,S.J., McLay,K., McMurray,A., Moore,M.J.,
            Mullikin,J.C., Niblett,D., Nickerson,T., Novik,K.L., Oliver,K.,
            Overton-Larty,E.K., Parker,A., Patel,R., Pearce,A.V., Peck,A.I.,
            Phillimore,B., Phillips,S., Plumb,R.W., Porter,K.M., Ramsey,Y.,
            Ranby,S.A., Rice,C.M., Ross,M.T., Searle,S.M., Sehra,H.K.,
            Sheridan,E., Skuce,C.D., Smith,S., Smith,M., Spraggon,L.,
            Squares,S.L., Steward,C.A., Sycamore,N., Tamlyn-Hall,G., Tester,J.,
            Theaker,A.J., Thomas,D.W., Thorpe,A., Tracey,A., Tromans,A.,
            Tubby,B., Wall,M., Wallis,J.M., West,A.P., White,S.S.,
            Whitehead,S.L., Whittaker,H., Wild,A., Willey,D.J., Wilmer,T.E.,
            Wood,J.M., Wray,P.W., Wyatt,J.C., Young,L., Younger,R.M.,
            Bentley,D.R., Coulson,A., Durbin,R., Hubbard,T., Sulston,J.E.,
            Dunham,I., Rogers,J. and Beck,S.
  TITLE     The DNA sequence and analysis of human chromosome 6
  JOURNAL   Nature 425 (6960), 805-811 (2003)
   PUBMED   14574404
REFERENCE   9  (bases 1 to 3214)
  AUTHORS   Marcos,I., Borrego,S., Rodriguez de Cordoba,S., Galan,J.J. and
            Antinolo,G.
  TITLE     Cloning, characterization and chromosome mapping of the human SMAP1
            gene
  JOURNAL   Gene 292 (1-2), 167-171 (2002)
   PUBMED   12119110
REFERENCE   10 (bases 1 to 3214)
  AUTHORS   Sato,Y., Hong,H.N., Yanai,N. and Obinata,M.
  TITLE     Involvement of stromal membrane-associated protein (SMAP-1) in
            erythropoietic microenvironment
  JOURNAL   J Biochem 124 (1), 209-216 (1998)
   PUBMED   9644265
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB480952.1, BC036123.1 and
            AF442495.1.
            
            On May 17, 2019 this sequence version replaced NM_001044305.2.
            
            Summary: The protein encoded by this gene is similar to the mouse
            stromal membrane-associated protein-1. This similarity suggests
            that this human gene product is also a type II membrane
            glycoprotein involved in the erythropoietic stimulatory activity of
            stromal cells. Alternate splicing results in multiple transcript
            variants encoding different isoforms. [provided by RefSeq, Jul
            2008].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (A).
            
            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 :: SRR1803612.258816.1,
                                           SRR1660807.153174.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000370455.8/ ENSP00000359484.3
            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
            1-35                DB480952.1         115-149
            36-1321             BC036123.1         1-1286
            1322-2821           AF442495.1         1251-2750
            2822-3214           BC036123.1         2787-3179
FEATURES             Location/Qualifiers
     source          1..3214
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q13"
     gene            1..3214
                     /gene="SMAP1"
                     /gene_synonym="SMAP-1"
                     /note="small ArfGAP 1"
                     /db_xref="GeneID:60682"
                     /db_xref="HGNC:HGNC:19651"
                     /db_xref="MIM:611372"
     exon            1..259
                     /gene="SMAP1"
                     /gene_synonym="SMAP-1"
                     /inference="alignment:Splign:2.1.0"
     CDS             142..1545
                     /gene="SMAP1"
                     /gene_synonym="SMAP-1"
                     /note="isoform A is encoded by transcript variant 1;
                     stromal membrane-associated GTPase-activating protein 1"
                     /codon_start=1
                     /product="stromal membrane-associated protein 1 isoform A"
                     /protein_id="NP_001037770.1"
                     /db_xref="CCDS:CCDS43478.1"
                     /db_xref="GeneID:60682"
                     /db_xref="HGNC:HGNC:19651"
                     /db_xref="MIM:611372"
                     /translation="MATRSCREKAQKLNEQHQLILSKLLREEDNKYCADCEAKGPRWA
                     SWNIGVFICIRCAGIHRNLGVHISRVKSVNLDQWTAEQIQCMQDMGNTKARLLYEANL
                     PENFRRPQTDQAVEFFIRDKYEKKKYYDKNAIAITNISSSDAPLQPLVSSPSLQAAVD
                     KNKLEKEKEKKKEEKKREKEPEKPAKPLTAEKLQKKDQQLEPKKSTSPKKAAEPTVDL
                     LGLDGPAVAPVTNGNTTVPPLNDDLDIFGPMISNPLPATVMPPAQGTPSAPAAATLST
                     VTSGDLDLFTEQTTKSEEVAKKQLSKDSILSLYGTGTIQQQSTPGVFMGPTNIPFTSQ
                     APAAFQGFPSMGVPVPAAPGLIGNVMGQSPSMMVGMPMPNGFMGNAQTGVMPLPQNVV
                     GPQGGMVGQMGAPQSKFGLPQAQQPQWSLSQMNQQMAGMSISSATPTAGFGQPSSTTA
                     GWSGSSSGQTLSTQLWK"
     exon            260..393
                     /gene="SMAP1"
                     /gene_synonym="SMAP-1"
                     /inference="alignment:Splign:2.1.0"
     exon            394..479
                     /gene="SMAP1"
                     /gene_synonym="SMAP-1"
                     /inference="alignment:Splign:2.1.0"
     exon            480..555
                     /gene="SMAP1"
                     /gene_synonym="SMAP-1"
                     /inference="alignment:Splign:2.1.0"
     exon            556..636
                     /gene="SMAP1"
                     /gene_synonym="SMAP-1"
                     /inference="alignment:Splign:2.1.0"
     exon            637..717
                     /gene="SMAP1"
                     /gene_synonym="SMAP-1"
                     /inference="alignment:Splign:2.1.0"
     exon            718..805
                     /gene="SMAP1"
                     /gene_synonym="SMAP-1"
                     /inference="alignment:Splign:2.1.0"
     exon            806..930
                     /gene="SMAP1"
                     /gene_synonym="SMAP-1"
                     /inference="alignment:Splign:2.1.0"
     exon            931..1102
                     /gene="SMAP1"
                     /gene_synonym="SMAP-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1103..1410
                     /gene="SMAP1"
                     /gene_synonym="SMAP-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1411..3214
                     /gene="SMAP1"
                     /gene_synonym="SMAP-1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2359..2364
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SMAP1"
                     /gene_synonym="SMAP-1"
                     /note="hexamer: ATTAAA"
     polyA_site      2386
                     /gene="SMAP1"
                     /gene_synonym="SMAP-1"
                     /note="major polyA site"
     regulatory      3141..3146
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SMAP1"
                     /gene_synonym="SMAP-1"
                     /note="hexamer: AATACA"
     polyA_site      3168
                     /gene="SMAP1"
                     /gene_synonym="SMAP-1"
ORIGIN      
        1 ctcccgttcc agctgccgct gccgcttcct gggctgagtc cgcccgcggt cccggcggcg
       61 ccaggtgcgt tcactctgcc cggctccagc cagcgtccgc cgccgccgta gctgccccag
      121 gctccccgcc ccgctgccga gatggcgacg cgctcctgtc gggagaaggc tcagaagctg
      181 aacgagcagc accagctcat cctatccaag cttctgaggg aggaggacaa caagtactgc
      241 gccgactgcg aggccaaagg tcctcgatgg gcttcctgga atattggtgt gtttatttgc
      301 atcagatgtg ctggaattca tagaaatctt ggggttcata tatccagggt caaatcagtc
      361 aacctagacc aatggacagc agaacagata cagtgcatgc aagatatggg aaatactaaa
      421 gcaagactac tctatgaagc caatcttcca gagaactttc gaagaccaca gacagatcaa
      481 gcagtggaat ttttcatcag agataaatat gaaaagaaga aatactacga taaaaatgcc
      541 atagctatta caaatatttc ctcctctgat gctcctcttc agcctttggt atcctctcct
      601 tctctgcaag ctgctgttga caaaaataaa ttggagaaag aaaaggaaaa aaaaaaggaa
      661 gagaaaaaga gagaaaagga gccagaaaag ccggcaaaac cacttacagc tgaaaagctg
      721 cagaagaaag atcagcaact ggagcctaaa aaaagtacca gccctaaaaa agctgcggag
      781 cccactgtgg atcttttagg acttgatggc cctgctgtgg caccagtgac caacgggaac
      841 acaacggtgc cacccctgaa cgatgatctg gacatctttg gaccgatgat ttctaatccc
      901 ttacctgcaa ctgtcatgcc cccagctcag gggacaccct ctgcaccagc agctgcaacc
      961 ctgtctacag taacatctgg ggatctagat ttattcactg agcaaactac aaaatcagaa
     1021 gaagtggcaa agaaacaact ttccaaagac tccatcttat ctctgtatgg cacaggaacc
     1081 attcaacagc aaagtactcc tggtgtattt atgggaccca caaatatacc atttacctca
     1141 caagcaccag ctgcatttca gggctttcca tcgatgggcg tgcctgtgcc tgcagctcct
     1201 ggccttatag gaaatgtgat gggacagagt ccaagcatga tggtgggcat gcccatgccc
     1261 aatgggttta tgggaaatgc acaaactggt gtgatgccac ttcctcagaa cgttgttggc
     1321 ccccaaggag gaatggtggg acaaatgggt gcaccccaga gtaagtttgg cctgccgcaa
     1381 gctcagcagc cccagtggag cctctcacag atgaatcagc agatggctgg catgagtatc
     1441 agtagtgcaa cccctactgc aggttttggc cagccctcca gcacaacagc aggatggtct
     1501 ggaagctcat caggtcagac tctcagcaca caactgtgga aatgaaaact gcaatacaag
     1561 tttcatccag aactaccacc tgacattcct tgctgaaacg catctagttc ccctgtttat
     1621 tcatatgcat attttttttc tttttaccca tttgttcata ttaagaatga tctgattgac
     1681 cgtgttggtc tgtactgatt caatttgatg tggtgaaaag caggttgata aatcatttta
     1741 tgtcaagggc agctttgctc atatttccca tgatttcatg tactgcatta tttgagaagc
     1801 tgctcaactt gcaaaatcag ttttcctctc aataaaatta tagctctaat gtttgcatat
     1861 aagggaagta gttatcatgt tagtaatacc tctaatagta taaaccccac cccaaaatta
     1921 gccagtaatc ctgtaggaag gtactgtatg atcaaatgtt taatcatata aatagaatgt
     1981 aaatgtctca ctgagcactg ttttctagtg tatcaaaatg ctcttatttc atcattcact
     2041 tcactgtgct gttgttatga tgtgcttaac agggaacgtg attagtgaaa ggaagataaa
     2101 cgtggatgtt actccaaaac ttcgtttaat gaatgcttaa agaattcaaa ttttatctgc
     2161 ctctcttgta atttggatct cttcttaatg tacatagtgc taacatgaag acctttttct
     2221 gcactatatg caaacagggt aactaactaa aacaaagcca ctttcaatct tcaatccttg
     2281 aaggtatatc taggtttatg acagtaattg tgtttacatt ttatggtgcc tagtattgac
     2341 aaaatgttat ttccctacat taaacatgac tccatagacc ttttcatttg tgggttttta
     2401 tttcctatga tgtatactgc cactaacctt ccaaaaatta cttagtattg caaagtcagg
     2461 aatcatcagg aacgtttagc tgacaaaata cttgtctgtt ttaaaaacct gttcaagtct
     2521 accaacctgt tcaagtctac caattataag ggcaaattgg agaaaaagaa aaaatatata
     2581 ctcaagagtg gtatcttgca gtatcggcac tgtacaaaaa aatcttccaa tttagttgtt
     2641 gtagagaaaa catgcagaac aaatgaagac aaaacataca ttttgtacca accatccaat
     2701 tagcttatgt taactgacaa gctccattta aacagatgtc catcagatga caagaaaggc
     2761 tgctgtactg aagtaaaaca aacaatacct gaatgctctg tagcctaaac tccaaacatc
     2821 ctcttccata tggatccact ggctggacaa actgcaccag ttgctgcttc aatttatacc
     2881 tcaattttca ctgtgtccag gtggtacttt ggctcgttgg ctagattaac cttctctgtc
     2941 cgagtgtgcc acacgagaac ctgaagggga aggaaatagc ttgggtagcg cactcttcat
     3001 ggtgacactc gaggtcgggc agcacaagtg taatgaatac cttagtgcag ttatttgctt
     3061 tcggttccag ttcttcgact gttgttatct gtttgagaaa gtcagattct tgcatccctg
     3121 gctgggatcc acgacgctta aatacagctt ttggattgga caaaatgact tgaagactta
     3181 cagcaaatcc tttgtgaaaa ataaaaaaaa aaaa
//
