LOCUS       NM_003098               2211 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens syntrophin alpha 1 (SNTA1), transcript variant 1,
            mRNA.
ACCESSION   NM_003098
VERSION     NM_003098.3
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 2211)
  AUTHORS   Jimenez-Vazquez,E.N., Arad,M., Macias,A., Vera-Pedrosa,M.L.,
            Cruz,F.M., Gutierrez,L.K., Cuttitta,A.J., Monteiro da Rocha,A.,
            Herron,T.J., Ponce-Balbuena,D., Guerrero-Serna,G., Binah,O.,
            Michele,D.E. and Jalife,J.
  TITLE     SNTA1 gene rescues ion channel function and is antiarrhythmic in
            cardiomyocytes derived from induced pluripotent stem cells from
            muscular dystrophy patients
  JOURNAL   Elife 11, e76576 (2022)
   PUBMED   35762211
  REMARK    GeneRIF: SNTA1 gene rescues ion channel function and is
            antiarrhythmic in cardiomyocytes derived from induced pluripotent
            stem cells from muscular dystrophy patients.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2211)
  AUTHORS   Moon,J.Y. and Kim,H.S.
  TITLE     alpha-Syntrophin alleviates ER stress to maintain protein
            homeostasis during myoblast differentiation
  JOURNAL   FEBS Lett 595 (12), 1656-1670 (2021)
   PUBMED   33834492
  REMARK    GeneRIF: alpha-Syntrophin alleviates ER stress to maintain protein
            homeostasis during myoblast differentiation.
REFERENCE   3  (bases 1 to 2211)
  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 2211)
  AUTHORS   Ali,R., Mir,H.A., Hamid,R., Shah,R.A., Khanday,F.A. and Bhat,S.S.
  TITLE     Jasplakinolide Attenuates Cell Migration by Impeding
            Alpha-1-syntrophin Protein Phosphorylation in Breast Cancer Cells
  JOURNAL   Protein J 40 (2), 234-244 (2021)
   PUBMED   33515365
  REMARK    GeneRIF: Jasplakinolide Attenuates Cell Migration by Impeding
            Alpha-1-syntrophin Protein Phosphorylation in Breast Cancer Cells.
REFERENCE   5  (bases 1 to 2211)
  AUTHORS   Rein-Fischboeck,L., Haberl,E.M., Bajraktari,G., Feder,S., Pohl,R.,
            Eggenhofer,E. and Buechler,C.
  TITLE     Alpha-syntrophin deficiency protects against non-alcoholic
            steatohepatitis associated increase of macrophages, CD8+ T-cells
            and galectin-3 in the liver
  JOURNAL   Exp Mol Pathol 113, 104363 (2020)
   PUBMED   31881201
  REMARK    GeneRIF: Soluble galectin-3 was, however, reduced upon SNTA
            knock-down and increased upon SNTA overexpression.
REFERENCE   6  (bases 1 to 2211)
  AUTHORS   Sadoulet-Puccio,H.M., Rajala,M. and Kunkel,L.M.
  TITLE     Dystrobrevin and dystrophin: an interaction through coiled-coil
            motifs
  JOURNAL   Proc Natl Acad Sci U S A 94 (23), 12413-12418 (1997)
   PUBMED   9356463
REFERENCE   7  (bases 1 to 2211)
  AUTHORS   Castello,A., Brocheriou,V., Chafey,P., Kahn,A. and Gilgenkrantz,H.
  TITLE     Characterization of the dystrophin-syntrophin interaction using the
            two-hybrid system in yeast
  JOURNAL   FEBS Lett 383 (1-2), 124-128 (1996)
   PUBMED   8612778
REFERENCE   8  (bases 1 to 2211)
  AUTHORS   Ahn,A.H., Freener,C.A., Gussoni,E., Yoshida,M., Ozawa,E. and
            Kunkel,L.M.
  TITLE     The three human syntrophin genes are expressed in diverse tissues,
            have distinct chromosomal locations, and each bind to dystrophin
            and its relatives
  JOURNAL   J Biol Chem 271 (5), 2724-2730 (1996)
   PUBMED   8576247
REFERENCE   9  (bases 1 to 2211)
  AUTHORS   Yang,B., Jung,D., Rafael,J.A., Chamberlain,J.S. and Campbell,K.P.
  TITLE     Identification of alpha-syntrophin binding to syntrophin triplet,
            dystrophin, and utrophin
  JOURNAL   J Biol Chem 270 (10), 4975-4978 (1995)
   PUBMED   7890602
REFERENCE   10 (bases 1 to 2211)
  AUTHORS   Groffen,A.J., Bikker,H. and Christiaans,I.
  TITLE     Long QT Syndrome Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301308
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL355392.7.
            
            On Aug 31, 2019 this sequence version replaced NM_003098.2.
            
            Summary: Syntrophins are cytoplasmic peripheral membrane scaffold
            proteins that are components of the dystrophin-associated protein
            complex. This gene is a member of the syntrophin gene family and
            encodes the most common syntrophin isoform found in cardiac
            tissues. The N-terminal PDZ domain of this syntrophin protein
            interacts with the C-terminus of the pore-forming alpha subunit
            (SCN5A) of the cardiac sodium channel Nav1.5. This protein also
            associates cardiac sodium channels with the nitric oxide
            synthase-PMCA4b (plasma membrane Ca-ATPase subtype 4b) complex in
            cardiomyocytes. This gene is a susceptibility locus for Long-QT
            syndrome (LQT) - an inherited disorder associated with sudden
            cardiac death from arrhythmia - and sudden infant death syndrome
            (SIDS). This protein also associates with dystrophin and
            dystrophin-related proteins at the neuromuscular junction and
            alters intracellular calcium ion levels in muscle tissue. [provided
            by RefSeq, Jan 2013].
            
            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 :: AK291994.1, BC026215.2 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000217381.3/ ENSP00000217381.2
            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
            1-453               AL355392.7         149194-149646       c
            454-639             AL355392.7         144724-144909       c
            640-844             AL355392.7         123602-123806       c
            845-1052            AL355392.7         118458-118665       c
            1053-1183           AL355392.7         118179-118309       c
            1184-1380           AL355392.7         116018-116214       c
            1381-1568           AL355392.7         114584-114771       c
            1569-2211           AL355392.7         113840-114482       c
FEATURES             Location/Qualifiers
     source          1..2211
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q11.21"
     gene            1..2211
                     /gene="SNTA1"
                     /gene_synonym="dJ1187J4.5; LQT12; SNT1; TACIP1"
                     /note="syntrophin alpha 1"
                     /db_xref="GeneID:6640"
                     /db_xref="HGNC:HGNC:11167"
                     /db_xref="MIM:601017"
     exon            1..453
                     /gene="SNTA1"
                     /gene_synonym="dJ1187J4.5; LQT12; SNT1; TACIP1"
                     /inference="alignment:Splign:2.1.0"
     CDS             144..1661
                     /gene="SNTA1"
                     /gene_synonym="dJ1187J4.5; LQT12; SNT1; TACIP1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     pro-TGF-alpha cytoplasmic domain-interacting protein 1;
                     alpha-1-syntrophin; acidic alpha 1 syntrophin;
                     syntrophin-1; 59 kDa dystrophin-associated protein A1
                     acidic component 1; dystrophin-associated protein A1,
                     59kDa, acidic component"
                     /codon_start=1
                     /product="alpha-1-syntrophin isoform 1"
                     /protein_id="NP_003089.1"
                     /db_xref="CCDS:CCDS13220.1"
                     /db_xref="GeneID:6640"
                     /db_xref="HGNC:HGNC:11167"
                     /db_xref="MIM:601017"
                     /translation="MASGRRAPRTGLLELRAGAGSGAGGERWQRVLLSLAEDVLTVSP
                     ADGDPGPEPGAPREQEPAQLNGAAEPGAGPPQLPEALLLQRRRVTVRKADAGGLGISI
                     KGGRENKMPILISKIFKGLAADQTEALFVGDAILSVNGEDLSSATHDEAVQVLKKTGK
                     EVVLEVKYMKDVSPYFKNSTGGTSVGWDSPPASPLQRQPSSPGPTPRNFSEAKHMSLK
                     MAYVSKRCTPNDPEPRYLEICSADGQDTLFLRAKDEASARSWATAIQAQVNTLTPRVK
                     DELQALLAATSTAGSQDIKQIGWLTEQLPSGGTAPTLALLTEKELLLYLSLPETREAL
                     SRPARTAPLIATRLVHSGPSKGSVPYDAELSFALRTGTRHGVDTHLFSVESPQELAAW
                     TRQLVDGCHRAAEGVQEVSTACTWNGRPCSLSVHIDKGFTLWAAEPGAARAVLLRQPF
                     EKLQMSSDDGASLLFLDFGGAEGEIQLDLHSCPKTIVFIIHSFLSAKVTRLGLLA"
     exon            454..639
                     /gene="SNTA1"
                     /gene_synonym="dJ1187J4.5; LQT12; SNT1; TACIP1"
                     /inference="alignment:Splign:2.1.0"
     exon            640..844
                     /gene="SNTA1"
                     /gene_synonym="dJ1187J4.5; LQT12; SNT1; TACIP1"
                     /inference="alignment:Splign:2.1.0"
     exon            845..1052
                     /gene="SNTA1"
                     /gene_synonym="dJ1187J4.5; LQT12; SNT1; TACIP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1053..1183
                     /gene="SNTA1"
                     /gene_synonym="dJ1187J4.5; LQT12; SNT1; TACIP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1184..1380
                     /gene="SNTA1"
                     /gene_synonym="dJ1187J4.5; LQT12; SNT1; TACIP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1381..1568
                     /gene="SNTA1"
                     /gene_synonym="dJ1187J4.5; LQT12; SNT1; TACIP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1569..2211
                     /gene="SNTA1"
                     /gene_synonym="dJ1187J4.5; LQT12; SNT1; TACIP1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2172..2177
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SNTA1"
                     /gene_synonym="dJ1187J4.5; LQT12; SNT1; TACIP1"
                     /note="hexamer: AATAAA"
     polyA_site      2211
                     /gene="SNTA1"
                     /gene_synonym="dJ1187J4.5; LQT12; SNT1; TACIP1"
                     /note="major polyA site"
ORIGIN      
        1 agagctcctc ccccagcggc cggggtaggg tggcggctgg cccagccggg cccccgctgc
       61 cctctgccct gggcgcttgg tcggagcggg ctgggcaaag cgggacaggg cgagcgcggc
      121 ggcccggggg ctcggaggcg aagatggcgt ccggcaggcg cgccccgcgc accgggctgc
      181 tggagctgcg cgccggggcg ggctcggggg ccggcggcga gcgatggcag cgggtgctgc
      241 tgagtctggc ggaggacgtg ctgaccgtga gccccgccga cggcgaccct ggtcccgagc
      301 ccggcgctcc gcgggagcag gagcccgcgc agctcaacgg cgccgcggag ccgggcgccg
      361 ggcccccgca gctgccagag gcgctactgc tccagcggcg ccgcgtgacg gtgcgcaagg
      421 ccgacgccgg tgggctgggc atcagcatca aaggcggccg ggagaacaag atgcctattc
      481 tcatttccaa gatcttcaag ggattggcag ctgaccagac agaggccctt tttgtggggg
      541 atgccatcct gtctgtgaat ggggaagact tgtcctctgc tacccatgat gaggcggtgc
      601 aggtcctcaa gaagacaggc aaggaggtgg tgctggaggt caagtatatg aaggacgtct
      661 caccgtattt caagaactct actggtggga cctcggtcgg ctgggactca cctcctgcct
      721 caccccttca gcggcagcct tcctcccctg gccccacacc ccggaacttc agcgaggcca
      781 aacacatgtc cttgaagatg gcatatgtct cgaagaggtg cacccccaat gacccggagc
      841 ccaggtatct ggagatctgc tcggcagatg gtcaagacac cctcttcctg agggccaagg
      901 atgaggctag tgcgaggtcg tgggcgactg ccatccaagc ccaggtcaat actctgacgc
      961 cgcgggtcaa ggatgagctg caggcactgt tggcagccac cagcacagct gggagccagg
     1021 acatcaagca gattggctgg ctaactgagc agctgcccag tgggggcaca gcccccaccc
     1081 tggccctgct aactgaaaag gaactgctcc tctacttgtc tctccccgag acccgcgagg
     1141 ccctgagccg gccagcccgt actgccccac tcatcgccac cagactggtg cactcaggcc
     1201 cctccaaggg ctcagtgccc tacgatgcag agctctcttt tgccctgcgc acgggcacgc
     1261 gtcacggtgt ggacactcac ctgttcagcg tggagtcacc gcaggagctg gctgcctgga
     1321 cccgccagct tgtggatggc tgtcaccggg ccgccgaggg tgtgcaggag gtgtctacag
     1381 cctgcacgtg gaatgggcgt ccctgcagcc tgtctgtgca catcgacaag ggcttcacac
     1441 tgtgggcggc tgagccaggt gcagcccgag ctgtgctcct gcgacagccc ttcgagaagc
     1501 tgcagatgtc ttcagatgac ggtgccagtc tccttttcct ggattttgga ggtgctgaag
     1561 gcgagatcca gctggacctg cactcgtgtc ccaaaaccat agtcttcatc atccactcct
     1621 tcctgtcggc caaagtcacc cgcctcgggc tgttggccta gaagtcgccg gatgcactag
     1681 ccctgaagag gggtgtccat gacatggcct gagctgggcc tccaccgact gcctgctcac
     1741 ccctgggctg agggaaggga gaggagagga acaagggcct ccgaaacccc aaccctgagg
     1801 gagactggat tggtcttggg gcccaggacc cagacgcagg acagagtgga ctctgcctgt
     1861 gatggggtgg ccttcctgct gcccccctcc accagtgcct tttgcagaga gatattttgt
     1921 gtacacagaa gccattccga gtctgggacc tgcccctgtg cggatcctga ccccagccaa
     1981 cagctgagct gccgggcctc ctcgaggccc ctaagccacc cccagaggtc ccatctgaag
     2041 ctggagtacc ctggggtcag cagcaagaga aagaagagga gattttctgt ttgtttttcc
     2101 cctcagccct gccaccgtgg ggagtctggt ttttctcttc atcctgtctc tctcctcctt
     2161 actcttggat aaataaacag cctgtgagca cacaggcagc ccggcccagt g
//
