LOCUS       NM_005261               2187 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens GTP binding protein overexpressed in skeletal muscle
            (GEM), transcript variant 1, mRNA.
ACCESSION   NM_005261
VERSION     NM_005261.4
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 2187)
  AUTHORS   Gan,L., Deng,Z., Wei,Y., Li,H. and Zhao,L.
  TITLE     Decreased expression of GEM in osteoarthritis cartilage regulates
            chondrogenic differentiation via Wnt/beta-catenin signaling
  JOURNAL   J Orthop Surg Res 18 (1), 751 (2023)
   PUBMED   37794464
  REMARK    GeneRIF: Decreased expression of GEM in osteoarthritis cartilage
            regulates chondrogenic differentiation via Wnt/beta-catenin
            signaling.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2187)
  AUTHORS   Despang,P., Salamon,S., Breitenkamp,A., Kuzmenkina,E. and
            Matthes,J.
  TITLE     Inhibitory effects on L- and N-type calcium channels by a novel
            CaVbeta1 variant identified in a patient with autism spectrum
            disorder
  JOURNAL   Naunyn Schmiedebergs Arch Pharmacol 395 (4), 459-470 (2022)
   PUBMED   35122502
REFERENCE   3  (bases 1 to 2187)
  AUTHORS   Contreras,G.F., Saavedra,J., Navarro-Quezada,N., Mellado,G.,
            Gonzalez,C. and Neely,A.
  TITLE     Direct inhibition of CaV2.3 by Gem is dynamin dependent and does
            not require a direct alfa/beta interaction
  JOURNAL   Biochem Biophys Res Commun 586, 107-113 (2022)
   PUBMED   34837834
  REMARK    GeneRIF: Direct inhibition of CaV2.3 by Gem is dynamin dependent
            and does not require a direct alfa/beta interaction.
REFERENCE   4  (bases 1 to 2187)
  AUTHORS   Takahashi,H., Asahina,R., Fujioka,M., Matsui,T.K., Kato,S.,
            Mori,E., Hioki,H., Yamamoto,T., Kobayashi,K. and Tsuboi,A.
  TITLE     Ras-like Gem GTPase induced by Npas4 promotes activity-dependent
            neuronal tolerance for ischemic stroke
  JOURNAL   Proc Natl Acad Sci U S A 118 (32) (2021)
   PUBMED   34349016
  REMARK    GeneRIF: Ras-like Gem GTPase induced by Npas4 promotes
            activity-dependent neuronal tolerance for ischemic stroke.
REFERENCE   5  (bases 1 to 2187)
  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   6  (bases 1 to 2187)
  AUTHORS   Beguin,P., Nagashima,K., Gonoi,T., Shibasaki,T., Takahashi,K.,
            Kashima,Y., Ozaki,N., Geering,K., Iwanaga,T. and Seino,S.
  TITLE     Regulation of Ca2+ channel expression at the cell surface by the
            small G-protein kir/Gem
  JOURNAL   Nature 411 (6838), 701-706 (2001)
   PUBMED   11395774
REFERENCE   7  (bases 1 to 2187)
  AUTHORS   Moyers,J.S., Bilan,P.J., Zhu,J. and Kahn,C.R.
  TITLE     Rad and Rad-related GTPases interact with calmodulin and
            calmodulin-dependent protein kinase II
  JOURNAL   J Biol Chem 272 (18), 11832-11839 (1997)
   PUBMED   9115241
REFERENCE   8  (bases 1 to 2187)
  AUTHORS   Santoro,T., Maguire,J., McBride,O.W., Avraham,K.B., Copeland,N.G.,
            Jenkins,N.A. and Kelly,K.
  TITLE     Chromosomal organization and transcriptional regulation of human
            GEM and localization of the human and mouse GEM loci encoding an
            inducible Ras-like protein
  JOURNAL   Genomics 30 (3), 558-564 (1995)
   PUBMED   8825643
REFERENCE   9  (bases 1 to 2187)
  AUTHORS   Cohen,L., Mohr,R., Chen,Y.Y., Huang,M., Kato,R., Dorin,D.,
            Tamanoi,F., Goga,A., Afar,D., Rosenberg,N. et al.
  TITLE     Transcriptional activation of a ras-like gene (kir) by oncogenic
            tyrosine kinases
  JOURNAL   Proc Natl Acad Sci U S A 91 (26), 12448-12452 (1994)
   PUBMED   7809057
REFERENCE   10 (bases 1 to 2187)
  AUTHORS   Maguire,J., Santoro,T., Jensen,P., Siebenlist,U., Yewdell,J. and
            Kelly,K.
  TITLE     Gem: an induced, immediate early protein belonging to the Ras
            family
  JOURNAL   Science 265 (5169), 241-244 (1994)
   PUBMED   7912851
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB018783.1, BC022010.2 and
            AP003478.1.
            
            On Nov 22, 2018 this sequence version replaced NM_005261.3.
            
            Summary: The protein encoded by this gene belongs to the RAD/GEM
            family of GTP-binding proteins. It is associated with the inner
            face of the plasma membrane and could play a role as a regulatory
            protein in receptor-mediated signal transduction. Alternative
            splicing occurs at this locus and two transcript variants encoding
            the same protein have been identified. [provided by RefSeq, Jul
            2008].
            
            Transcript Variant: This variant (1) represents the longer
            transcript. Variants 1 and 2 encode the same protein.
            
            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 :: SRR1660805.254353.1,
                                           SRR1803617.199605.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000297596.3/ ENSP00000297596.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-570               DB018783.1         1-570
            571-1353            BC022010.2         456-1238
            1354-1354           AP003478.1         129535-129535       c
            1355-2187           BC022010.2         1240-2072
FEATURES             Location/Qualifiers
     source          1..2187
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q22.1"
     gene            1..2187
                     /gene="GEM"
                     /gene_synonym="KIR"
                     /note="GTP binding protein overexpressed in skeletal
                     muscle"
                     /db_xref="GeneID:2669"
                     /db_xref="HGNC:HGNC:4234"
                     /db_xref="MIM:600164"
     exon            1..230
                     /gene="GEM"
                     /gene_synonym="KIR"
                     /inference="alignment:Splign:2.1.0"
     exon            231..570
                     /gene="GEM"
                     /gene_synonym="KIR"
                     /inference="alignment:Splign:2.1.0"
     CDS             240..1130
                     /gene="GEM"
                     /gene_synonym="KIR"
                     /EC_number="3.6.5.2"
                     /note="kinase-inducible Ras-like protein; RAS-like protein
                     KIR; GTP-binding mitogen-induced T-cell protein"
                     /codon_start=1
                     /product="GTP-binding protein GEM"
                     /protein_id="NP_005252.1"
                     /db_xref="CCDS:CCDS6261.1"
                     /db_xref="GeneID:2669"
                     /db_xref="HGNC:HGNC:4234"
                     /db_xref="MIM:600164"
                     /translation="MTLNNVTMRQGTVGMQPQQQRWSIPADGRHLMVQKEPHQYSHRN
                     RHSATPEDHCRRSWSSDSTDSVISSESGNTYYRVVLIGEQGVGKSTLANIFAGVHDSM
                     DSDCEVLGEDTYERTLMVDGESATIILLDMWENKGENEWLHDHCMQVGDAYLIVYSIT
                     DRASFEKASELRIQLRRARQTEDIPIILVGNKSDLVRCREVSVSEGRACAVVFDCKFI
                     ETSAAVQHNVKELFEGIVRQVRLRRDSKEKNERRLAYQKRKESMPRKARRFWGKIVAK
                     NNKNMAFKLKSKSCHDLSVL"
     exon            571..647
                     /gene="GEM"
                     /gene_synonym="KIR"
                     /inference="alignment:Splign:2.1.0"
     exon            648..852
                     /gene="GEM"
                     /gene_synonym="KIR"
                     /inference="alignment:Splign:2.1.0"
     exon            853..2187
                     /gene="GEM"
                     /gene_synonym="KIR"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2169..2174
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GEM"
                     /gene_synonym="KIR"
                     /note="hexamer: AATAAA"
     polyA_site      2187
                     /gene="GEM"
                     /gene_synonym="KIR"
                     /note="major polyA site"
ORIGIN      
        1 aggcggcggg caaggacggc gggcacagcg cagcactccc cgctcgttgg cccgggtatc
       61 ccagcgcgga cccacgcgat acgctgacgc cccgacgccg atccggccga gccaagtaag
      121 ggggacggcc cgagacggag aagggagaga gtgggagttt cccagcccgc agaactttcg
      181 aagttgagaa aagaacccct ggaacgtgcg ctcagcactg ggattttctg gactcaacga
      241 tgactctgaa taatgtcacc atgcgccagg gcactgtggg catgcagcca cagcagcagc
      301 gctggagcat cccagctgat ggcaggcatc tgatggtcca gaaagagccc caccagtaca
      361 gccaccgcaa ccgccattct gctacccctg aggaccactg ccgccgaagc tggtcctctg
      421 actccacaga ctcagtcatc tcctctgagt cagggaacac ctactaccga gtggtgctca
      481 taggggagca gggggtgggc aagtccactc tggccaacat ctttgcaggt gtgcatgaca
      541 gcatggacag cgactgcgag gtgctgggag aagatacata tgaacgaacc ctgatggttg
      601 atggggaaag tgcaacgatt atactcctgg atatgtggga aaataagggg gaaaatgaat
      661 ggctccatga ccactgcatg caggtcgggg acgcatacct gattgtctac tcaatcacag
      721 accgagcgag cttcgagaag gcatctgagc tgcgaatcca gctccgcagg gcccggcaga
      781 cagaggacat tcccataatt ttggttggca acaaaagtga cttagtgcgg tgccgagaag
      841 tgtctgtatc agaagggaga gcctgtgcag tggtgtttga ctgcaagttc atcgagacct
      901 ctgcagctgt ccagcacaac gtgaaggagc tgtttgaggg cattgtgcga caggtgcgcc
      961 ttcggcggga cagcaaggag aagaatgaac ggcggctggc ctaccagaaa aggaaggaga
     1021 gcatgcccag gaaagccagg cgcttctggg gcaagatcgt ggccaaaaac aacaagaata
     1081 tggccttcaa gctcaagtcc aaatcctgcc atgacctctc tgtactctag gaacccaggg
     1141 tcacccagat gtccctttga tggccgttgt tgaaggccat tgggaccaat aatctatatt
     1201 agattgaata cttaagttag atgtggtttc ccccattgta gcagggagct agcgtattag
     1261 ccttgtgggc aacatgatgc atgggaaatg aaagattttt gtaaaaagtc agtatttatt
     1321 tccaggaaaa gcctgacctt gctatttgaa cacccaagac tctttagagg atgtgtttgg
     1381 tgttcacatg tgtttcttct attttggata gtagagaagt aaagcttaca aagaatgcct
     1441 agaacaagaa cttttcatca ttaaaaattt ttcccagtgt tctgatatgt gactttgagg
     1501 ccaatgagtc ataaacaaat ataagaaagc tgtcaatgag tttcttcaaa ggagggaaaa
     1561 ctttctacga atctaagatc catggagcta gaattgtaga actaggctca tcagaatcgt
     1621 gactattatt gctccatcaa actgtgaaaa gaaatgatgt ggaccttgct ggaaacaaag
     1681 gcttagcaaa caatttttgt tcaatgccca ccaagacata tagaattggg aactgataca
     1741 tgtgtccctt ataggctcaa aaattatatc ttacaatttc ttatttaggg ggaaattatt
     1801 tgaatcagat tctatttagt caaaccacct tttatgtttt attatttttg aattcatgga
     1861 gccatcataa aaatattttt aaaatcagaa ttattgatac cctgtagtgc aaaatgtcaa
     1921 tttttaatgt ataatcagaa gtctgaattt ttataaaaca tatagcataa aaacttccag
     1981 tactttggtt gacccttgta tgtcacagct ctgctctatt tattattatt ttgcaaaata
     2041 accattttaa catttgataa agcatattta tgaacatatt tcttaataag aaaaatatcc
     2101 attttattac cattttctat ctttttcaaa atatgcaagt ttttacctat atgtcttata
     2161 ataaaagaaa taaaatattt gaaaaaa
//
