LOCUS       NM_001382567            4168 bp    mRNA    linear   PRI 19-MAR-2024
DEFINITION  Homo sapiens stromal interaction molecule 1 (STIM1), transcript
            variant 5, mRNA.
ACCESSION   NM_001382567
VERSION     NM_001382567.1
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 4168)
  AUTHORS   Knapp,M.L., Alansary,D., Poth,V., Forderer,K., Sommer,F.,
            Zimmer,D., Schwarz,Y., Kunzel,N., Kless,A., Machaca,K., Helms,V.,
            Muhlhaus,T., Schroda,M., Lis,A. and Niemeyer,B.A.
  TITLE     A longer isoform of Stim1 is a negative SOCE regulator but
            increases cAMP-modulated NFAT signaling
  JOURNAL   EMBO Rep 23 (3), e53135 (2022)
   PUBMED   34942054
REFERENCE   2  (bases 1 to 4168)
  AUTHORS   Ramesh,G., Jarzembowski,L., Schwarz,Y., Poth,V., Konrad,M.,
            Knapp,M.L., Schwar,G., Lauer,A.A., Grimm,M.O.W., Alansary,D.,
            Bruns,D. and Niemeyer,B.A.
  TITLE     A short isoform of STIM1 confers frequency-dependent synaptic
            enhancement
  JOURNAL   Cell Rep 34 (11), 108844 (2021)
   PUBMED   33730587
  REMARK    GeneRIF: A short isoform of STIM1 confers frequency-dependent
            synaptic enhancement.
REFERENCE   3  (bases 1 to 4168)
  AUTHORS   Kilch,T., Alansary,D., Peglow,M., Dorr,K., Rychkov,G., Rieger,H.,
            Peinelt,C. and Niemeyer,B.A.
  TITLE     Mutations of the Ca2+-sensing stromal interaction molecule STIM1
            regulate Ca2+ influx by altered oligomerization of STIM1 and by
            destabilization of the Ca2+ channel Orai1
  JOURNAL   J Biol Chem 288 (3), 1653-1664 (2013)
   PUBMED   23212906
  REMARK    GeneRIF: The molecular kinetics of STIM1 and Orai1 are major
            determinants of calcium influx in cultured cell.
REFERENCE   4  (bases 1 to 4168)
  AUTHORS   Soboloff,J., Rothberg,B.S., Madesh,M. and Gill,D.L.
  TITLE     STIM proteins: dynamic calcium signal transducers
  JOURNAL   Nat Rev Mol Cell Biol 13 (9), 549-565 (2012)
   PUBMED   22914293
  REMARK    GeneRIF: Studies indicate that in vertebrates, stromal interaction
            molecule proteins STIM1 and STIM2 are expressed ubiquitously
            throughout cell types.
            Review article
REFERENCE   5  (bases 1 to 4168)
  AUTHORS   Darbellay,B., Arnaudeau,S., Bader,C.R., Konig,S. and Bernheim,L.
  TITLE     STIM1L is a new actin-binding splice variant involved in fast
            repetitive Ca2+ release
  JOURNAL   J Cell Biol 194 (2), 335-346 (2011)
   PUBMED   21788372
  REMARK    GeneRIF: STIM1L was expressed in several mammalian tissues,
            suggesting that many cell types rely on this Ca(2+) sensor for
            their Ca(2+) homeostasis and intracellular signaling
REFERENCE   6  (bases 1 to 4168)
  AUTHORS   Byun,M., Abhyankar,A., Lelarge,V., Plancoulaine,S., Palanduz,A.,
            Telhan,L., Boisson,B., Picard,C., Dewell,S., Zhao,C., Jouanguy,E.,
            Feske,S., Abel,L. and Casanova,J.L.
  TITLE     Whole-exome sequencing-based discovery of STIM1 deficiency in a
            child with fatal classic Kaposi sarcoma
  JOURNAL   J Exp Med 207 (11), 2307-2312 (2010)
   PUBMED   20876309
  REMARK    GeneRIF: STIM1 T cell deficiency precipitated the development of
            lethal KS in this child upon infection with HHV-8.
REFERENCE   7  (bases 1 to 4168)
  AUTHORS   Feske,S.
  TITLE     ORAI1 and STIM1 deficiency in human and mice: roles of
            store-operated Ca2+ entry in the immune system and beyond
  JOURNAL   Immunol Rev 231 (1), 189-209 (2009)
   PUBMED   19754898
  REMARK    GeneRIF: Lack of STIM1 or ORAI1 in human patients and mice strongly
            compromises T cell function[review]
            Review article
REFERENCE   8  (bases 1 to 4168)
  AUTHORS   Picard,C., McCarl,C.A., Papolos,A., Khalil,S., Luthy,K., Hivroz,C.,
            LeDeist,F., Rieux-Laucat,F., Rechavi,G., Rao,A., Fischer,A. and
            Feske,S.
  TITLE     STIM1 mutation associated with a syndrome of immunodeficiency and
            autoimmunity
  JOURNAL   N Engl J Med 360 (19), 1971-1980 (2009)
   PUBMED   19420366
  REMARK    GeneRIF: study reports 3 siblings from 1 kindred with a syndrome of
            immunodeficiency, hepatosplenomegaly, autoimmune hemolytic anemia,
            thrombocytopenia, muscular hypotonia & defective enamel dentition;
            2 of the patients have homozygous nonsense mutation in STIM1
REFERENCE   9  (bases 1 to 4168)
  AUTHORS   Sabbioni,S., Veronese,A., Trubia,M., Taramelli,R.,
            Barbanti-Brodano,G., Croce,C.M. and Negrini,M.
  TITLE     Exon structure and promoter identification of STIM1 (alias GOK), a
            human gene causing growth arrest of the human tumor cell lines G401
            and RD
  JOURNAL   Cytogenet Cell Genet 86 (3-4), 214-218 (1999)
   PUBMED   10575208
REFERENCE   10 (bases 1 to 4168)
  AUTHORS   Parker,N.J., Begley,C.G., Smith,P.J. and Fox,R.M.
  TITLE     Molecular cloning of a novel human gene (D11S4896E) at chromosomal
            region 11p15.5
  JOURNAL   Genomics 37 (2), 253-256 (1996)
   PUBMED   8921403
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC090804.8, AC087441.9 and
            AC015689.12.
            
            Summary: This gene encodes a type 1 transmembrane protein that
            mediates Ca2+ influx after depletion of intracellular Ca2+ stores
            by gating of store-operated Ca2+ influx channels (SOCs). It is one
            of several genes located in the imprinted gene domain of 11p15.5,
            an important tumor-suppressor gene region. Alterations in this
            region have been associated with the Beckwith-Wiedemann syndrome,
            Wilms tumor, rhabdomyosarcoma, adrenocrotical carcinoma, and lung,
            ovarian, and breast cancer. This gene may play a role in
            malignancies and disease that involve this region, as well as early
            hematopoiesis, by mediating attachment to stromal cells. Mutations
            in this gene are associated with fatal classic Kaposi sarcoma,
            immunodeficiency due to defects in store-operated calcium entry
            (SOCE) in fibroblasts, ectodermal dysplasia and tubular aggregate
            myopathy. This gene is oriented in a head-to-tail configuration
            with the ribonucleotide reductase 1 gene (RRM1), with the 3' end of
            this gene situated 1.6 kb from the 5' end of the RRM1 gene.
            Alternative splicing of this gene results in multiple transcript
            variants. [provided by RefSeq, May 2013].
            
            Transcript Variant: This variant (5), also known as STIM1A
            (PMID:34942054), contains an alternate exon and uses an alternate
            in-frame splice site, relative to variant 1. The resulting protein
            (isoform 5, STIM1A) has a distinct C-terminus and is shorter than
            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 :: SRR18074968.1367398.1,
                                           SRR14038194.2708864.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000526596.2/ ENSP00000433266.2
            RefSeq Select criteria :: based on manual assertion
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-746               AC090804.8         44536-45281         c
            747-877             AC087441.9         91179-91309
            878-992             AC087441.9         147500-147614
            993-1104            AC015689.12        161601-161712       c
            1105-1220           AC015689.12        157842-157957       c
            1221-1398           AC015689.12        147035-147212       c
            1399-1576           AC015689.12        142559-142736       c
            1577-1744           AC015689.12        134887-135054       c
            1745-1845           AC015689.12        134256-134356       c
            1846-2081           AC015689.12        133740-133975       c
            2082-2174           AC015689.12        132473-132565       c
            2175-2241           AC015689.12        130695-130761       c
            2242-4168           AC015689.12        124030-125956       c
FEATURES             Location/Qualifiers
     source          1..4168
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..4168
                     /gene="STIM1"
                     /gene_synonym="D11S4896E; GOK; IMD10; STRMK; TAM; TAM1"
                     /note="stromal interaction molecule 1"
                     /db_xref="GeneID:6786"
                     /db_xref="HGNC:HGNC:11386"
                     /db_xref="MIM:605921"
     exon            1..746
                     /gene="STIM1"
                     /gene_synonym="D11S4896E; GOK; IMD10; STRMK; TAM; TAM1"
                     /inference="alignment:Splign:2.1.0"
     CDS             608..2758
                     /gene="STIM1"
                     /gene_synonym="D11S4896E; GOK; IMD10; STRMK; TAM; TAM1"
                     /note="isoform 5 precursor is encoded by transcript
                     variant 5"
                     /codon_start=1
                     /product="stromal interaction molecule 1 isoform 5
                     precursor"
                     /protein_id="NP_001369496.1"
                     /db_xref="CCDS:CCDS91417.1"
                     /db_xref="GeneID:6786"
                     /db_xref="HGNC:HGNC:11386"
                     /db_xref="MIM:605921"
                     /translation="MDVCVRLALWLLWGLLLHQGQSLSHSHSEKATGTSSGANSEEST
                     AAEFCRIDKPLCHSEDEKLSFEAVRNIHKLMDDDANGDVDVEESDEFLREDLNYHDPT
                     VKHSTFHGEDKLISVEDLWKAWKSSEVYNWTVDEVVQWLITYVELPQYEETFRKLQLS
                     GHAMPRLAVTNTTMTGTVLKMTDRSHRQKLQLKALDTVLFGPPLLTRHNHLKDFMLVV
                     SIVIGVGGCWFAYIQNRYSKEHMKKMMKDLEGLHRAEQSLHDLQERLHKAQEEHRTVE
                     VEKVHLEKKLRDEINLAKQEAQRLKELREGTENERSRQKYAEEELEQVREALRKAEKE
                     LESHSSWYAPEALQKWLQLTHEVEVQYYNIKKQNAEKQLLVAKEGAEKIKKKRNTLFG
                     TFHVAHSSSLDDVDHKILTAKQALSEVTAALRERLHRWQQIEILCGFQIVNNPGIHSL
                     VAALNIDPSWMGSTRPNPAHFIMTDDVDDMDEEIVSPLSMQYAAWLMGRRFSDRSLCS
                     TSAGSDDQSLWKYPAPSLQSSVRQRLTEPQHGLGSQRDLTHSDSESSLHMSDRQRVAP
                     KPPQMSRAADEALNAMTSNGSHRLIEGVHPGSLVEKLPDSPALAKKALLALNHGLDKA
                     HSLMELSPSAPPGGSPHLDSSRSHSPSSPDPDTPSPVGDSRALQASRNTRIPHLAGKK
                     AVAEEDNGSIGEETDSSPGRKKFPLKIFKKPLKK"
     exon            747..877
                     /gene="STIM1"
                     /gene_synonym="D11S4896E; GOK; IMD10; STRMK; TAM; TAM1"
                     /inference="alignment:Splign:2.1.0"
     exon            878..992
                     /gene="STIM1"
                     /gene_synonym="D11S4896E; GOK; IMD10; STRMK; TAM; TAM1"
                     /inference="alignment:Splign:2.1.0"
     exon            993..1104
                     /gene="STIM1"
                     /gene_synonym="D11S4896E; GOK; IMD10; STRMK; TAM; TAM1"
                     /inference="alignment:Splign:2.1.0"
     exon            1105..1220
                     /gene="STIM1"
                     /gene_synonym="D11S4896E; GOK; IMD10; STRMK; TAM; TAM1"
                     /inference="alignment:Splign:2.1.0"
     exon            1221..1398
                     /gene="STIM1"
                     /gene_synonym="D11S4896E; GOK; IMD10; STRMK; TAM; TAM1"
                     /inference="alignment:Splign:2.1.0"
     exon            1399..1576
                     /gene="STIM1"
                     /gene_synonym="D11S4896E; GOK; IMD10; STRMK; TAM; TAM1"
                     /inference="alignment:Splign:2.1.0"
     exon            1577..1744
                     /gene="STIM1"
                     /gene_synonym="D11S4896E; GOK; IMD10; STRMK; TAM; TAM1"
                     /inference="alignment:Splign:2.1.0"
     exon            1745..1845
                     /gene="STIM1"
                     /gene_synonym="D11S4896E; GOK; IMD10; STRMK; TAM; TAM1"
                     /inference="alignment:Splign:2.1.0"
     exon            1846..2081
                     /gene="STIM1"
                     /gene_synonym="D11S4896E; GOK; IMD10; STRMK; TAM; TAM1"
                     /inference="alignment:Splign:2.1.0"
     exon            2082..2174
                     /gene="STIM1"
                     /gene_synonym="D11S4896E; GOK; IMD10; STRMK; TAM; TAM1"
                     /inference="alignment:Splign:2.1.0"
     exon            2175..2241
                     /gene="STIM1"
                     /gene_synonym="D11S4896E; GOK; IMD10; STRMK; TAM; TAM1"
                     /inference="alignment:Splign:2.1.0"
     exon            2242..4168
                     /gene="STIM1"
                     /gene_synonym="D11S4896E; GOK; IMD10; STRMK; TAM; TAM1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4142..4147
                     /regulatory_class="polyA_signal_sequence"
                     /gene="STIM1"
                     /gene_synonym="D11S4896E; GOK; IMD10; STRMK; TAM; TAM1"
                     /note="hexamer: AATAAA"
     polyA_site      4168
                     /gene="STIM1"
                     /gene_synonym="D11S4896E; GOK; IMD10; STRMK; TAM; TAM1"
                     /note="major polyA site"
ORIGIN      
        1 aagccgctgt cctgggcctg gccggtgtgc gtccgcctgc tggacctggg caccgccagc
       61 cgcctgggca cgggactggg cgggggcgct gacctcggcc taggaggccc aggatcccgg
      121 agacgcccgc gccctcagga ccctgcgggt cgcacgccct ccccagcttc tgctgctcgc
      181 cgctcttcgg cagggcgagg tcaggtgccc ccttctcgcc tctcttctct tctcttctct
      241 tcctcctcca cttctgtgcc cgcggagact ccggccgccc ccttccgcag gggtgtagta
      301 atctgcggag ctgacagcag ccccgcagcc accctgcccg aagtctccgg aagcggcacg
      361 agctcaggcc gccgcagccc cggcggaccc actgttggac ctgaggagcc agccctcctc
      421 ccgcacccaa acttggagca cttgaccttt ggctgttgga gggggcaggc tcgcgggtgg
      481 ctggacagct gcggagccgc gagggcatct tgcctggaga ccgtcggctg cactcccggg
      541 ctcctggctt tgcctctggg atcccgaggt gtccacatca gacgcatgtt gactgagacc
      601 tagagtcatg gatgtatgcg tccgtcttgc cctgtggctc ctctggggac tcctcctgca
      661 ccagggccag agcctcagcc atagtcacag tgagaaggcg acaggaacca gctcgggggc
      721 caactctgag gagtccactg cagcagagtt ttgccgaatt gacaagcccc tgtgtcacag
      781 tgaggatgag aaactcagct tcgaggcagt ccgtaacatc cacaaactga tggacgatga
      841 tgccaatggt gatgtggatg tggaagaaag tgatgagttc ctgagggaag acctcaatta
      901 ccatgaccca acagtgaaac acagcacctt ccatggtgag gataagctca tcagcgtgga
      961 ggacctgtgg aaggcatgga agtcatcaga agtatacaat tggaccgtgg atgaggtggt
     1021 acagtggctg atcacatatg tggagctgcc tcagtatgag gagaccttcc ggaagctgca
     1081 gctcagtggc catgccatgc caaggctggc tgtcaccaac accaccatga cagggactgt
     1141 gctgaagatg acagaccgga gtcatcggca gaagctgcag ctgaaggctc tggatacagt
     1201 gctctttggg cctcctctct tgactcgcca taatcacctc aaggacttca tgctggtggt
     1261 gtctatcgtt attggtgtgg gcggctgctg gtttgcctat atccagaacc gttactccaa
     1321 ggagcacatg aagaagatga tgaaggactt ggaggggtta caccgagctg agcagagtct
     1381 gcatgacctt caggaaaggc tgcacaaggc ccaggaggag caccgcacag tggaggtgga
     1441 gaaggtccat ctggaaaaga agctgcgcga tgagatcaac cttgctaagc aggaagccca
     1501 gcggctgaag gagctgcggg agggtactga gaatgagcgg agccgccaaa aatatgctga
     1561 ggaggagttg gagcaggttc gggaggcctt gaggaaagca gagaaggagc tagaatctca
     1621 cagctcatgg tatgctccag aggcccttca gaagtggctg cagctgacac atgaggtgga
     1681 ggtgcaatat tacaacatca agaagcaaaa tgctgagaag cagctgctgg tggccaagga
     1741 gggggctgag aagataaaaa agaagagaaa cacactcttt ggcaccttcc acgtggccca
     1801 cagctcttcc ctggatgatg tagatcataa aattctaaca gctaagcaag cactgagcga
     1861 ggtgacagca gcattgcggg agcgcctgca ccgctggcaa cagatcgaga tcctctgtgg
     1921 cttccagatt gtcaacaacc ctggcatcca ctcactggtg gctgccctca acatagaccc
     1981 cagctggatg ggcagtacac gccccaaccc tgctcacttc atcatgactg acgacgtgga
     2041 tgacatggat gaggagattg tgtctccctt gtccatgcag tatgctgcct ggctgatggg
     2101 gcgtaggttc agtgaccgct ctctctgctc tacatccgcc ggctcggatg atcagtccct
     2161 ctggaaatac cccgccccta gcctgcagag cagtgttcgg cagcgcctga cggagccaca
     2221 gcatggcctg ggatctcaga gggatttgac ccattccgat tcggagtcct ccctccacat
     2281 gagtgaccgc cagcgtgtgg cccccaaacc tcctcagatg agccgtgctg cagacgaggc
     2341 tctcaatgcc atgacttcca atggcagcca ccggctgatc gagggggtcc acccagggtc
     2401 tctggtggag aaactgcctg acagccctgc cctggccaag aaggcattac tggcgctgaa
     2461 ccatgggctg gacaaggccc acagcctgat ggagctgagc ccctcagccc cacctggtgg
     2521 ctctccacat ttggattctt cccgttctca cagccccagc tccccagacc cagacacacc
     2581 atctccagtt ggggacagcc gagccctgca agccagccga aacacacgca ttccccacct
     2641 ggctggcaag aaggctgtgg ctgaggagga taatggctct attggcgagg aaacagactc
     2701 cagcccaggc cggaagaagt ttcccctcaa aatctttaag aagcctctta agaagtaggc
     2761 aggatggggt ggcagtaaag ggacagcttg tccttccctg ggtgttctgt ctctccttcc
     2821 ctcccttcct tcaagataac tggccccaag agtggggcat gggaagggct ggtccagggg
     2881 tctgggcact gtacatacct gccccctcat ccttgggtcc ttcattatta tttattaact
     2941 gaccaccatg gcctgcctgc cctgcctccg tcccaaccat gggctgctgc tgtcactccc
     3001 tctccacttc agtgcatgtc ttagttgctg ttccctcagc tcccagctcc acctctgggg
     3061 ttcagcttct gtctctgctg tcccagtttt gaggtttggt ttcttgtttc tgtctcttgc
     3121 tttcgggctc ctccctccca ccactcccca acttccccta gcagttgcag ggaagatagg
     3181 acgagtagct tctgacatgt gtgcctcaga tctgttccac cccactcaca gtggttctgt
     3241 ttgctccaga ctggggctag ggcctaatct ttgaagtttg ttctttggta ttgatgtggg
     3301 tcagaaggag cctcatccta atctcactca ggcctccagg gatccatggg ggagtgaaac
     3361 caattctcag agaacaaccc accagagact tttaaagaga ggccaggctt gggaatgggt
     3421 tgggagaggc atctgttcat tggagcatga gtggatgcca gaactgtagg ttataaggca
     3481 gtcacttttt ctctctactc ccacccacac ctgcctccct cttacccctg ctcccccaca
     3541 ctgcaggagg atttgtctct aagaggtgct gccccaaagc tccccaagca tcaatactcc
     3601 tagggctcag gacaagtggc tcccctggcc aggagagcca cagccatgat acagggctct
     3661 tatggagccc tggagttgtt gggcaaggat gctgtcattt tttgaaccaa aagacaaaca
     3721 ggttaaaagg aaaaaaagta atctgaattt cccaagtgcc tacgctgcat attccccttg
     3781 ttagatccca ttttcatgtt actttgtagc cttggccaga ggctcaaaaa ggacacaacc
     3841 agtttgggga aggggtggct aaggaagatg gtataggtga aggcggctgt gtgaccactt
     3901 tcccccaccc ttcccaccct ctagacaact ctctccctta cctgtttttg ctatggctgt
     3961 aaaggtattt ttcctctgcc ccactccctg ccataccttt atcctgggat cctattttgg
     4021 gcctggggtg ggtatacctg gggctggtct taggagggtg ctaggctgca gactgccttg
     4081 tactccctgg acaccctcaa atggggtttt ctgtgttatt tcataaaatt ctttgaagtc
     4141 caataaagca tgtaggagat tttaacca
//
