SNTA1 (syntrophin alpha 1)

Gene

• Entrez ID: 6640
• Gene name: Syntrophin alpha 1
• Gene symbol: SNTA1
• Synonyms: LQT12, SNT1, TACIP1, dJ1187J4.5
• Chromosome: 20
• Chromosome location: 20q11.21
• 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

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs56157422	G>A,C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, missense variant
rs121434500	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs139532210	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign, benign	Intron variant
rs141724500	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, missense variant
rs144860423	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, coding sequence variant
rs572545726	G>A	Benign, likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022575	hsa-miR-124-3p	Microarray	18668037

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002027	Process	Regulation of heart rate	IMP	18591664
GO:0003117	Process	Regulation of vasoconstriction by circulating norepinephrine	IEA
GO:0003779	Function	Actin binding	IEA
GO:0005198	Function	Structural molecule activity	IEA
GO:0005515	Function	Protein binding	IPI	10212242, 16192269, 16533813, 18468998, 19931615, 26617989, 27382054
GO:0005516	Function	Calmodulin binding	IEA
GO:0005622	Component	Intracellular anatomical structure	IBA	21873635
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0006936	Process	Muscle contraction	TAS	8576247
GO:0007528	Process	Neuromuscular junction development	IEA
GO:0016010	Component	Dystrophin-associated glycoprotein complex	IBA	21873635
GO:0016013	Component	Syntrophin complex	TAS	21164104
GO:0016328	Component	Lateral plasma membrane	TAS	21164104
GO:0017080	Function	Sodium channel regulator activity	IMP	18591664
GO:0030165	Function	PDZ domain binding	IEA
GO:0031594	Component	Neuromuscular junction	IBA	21873635
GO:0032991	Component	Protein-containing complex	IDA	18591664
GO:0042383	Component	Sarcolemma	IBA	21873635
GO:0044325	Function	Ion channel binding	IPI	18591664
GO:0045202	Component	Synapse	IBA	21873635
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0050998	Function	Nitric-oxide synthase binding	IPI	18591664
GO:0051117	Function	ATPase binding	IPI	18591664
GO:0060307	Process	Regulation of ventricular cardiac muscle cell membrane repolarization	IMP	18591664
GO:0086005	Process	Ventricular cardiac muscle cell action potential	IMP	18591664
GO:1902083	Process	Negative regulation of peptidyl-cysteine S-nitrosylation	IMP	18591664
GO:1902305	Process	Regulation of sodium ion transmembrane transport	IMP	18591664

Other IDs

• MIM: 601017
• HGNC: 11167
• e!Ensembl: ENSG00000101400

Protein

• UniProt ID: Q13424
• Protein name: Alpha-1-syntrophin (59 kDa dystrophin-associated protein A1 acidic component 1) (Pro-TGF-alpha cytoplasmic domain-interacting protein 1) (TACIP1) (Syntrophin-1)
• Protein function: Adapter protein that binds to and probably organizes the subcellular localization of a variety of membrane proteins. May link various receptors to the actin cytoskeleton and the extracellular matrix via the dystrophin glycoprotein complex. Plays
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00595	PDZ	87 → 167	PDZ domain	Domain
  PF18012	PH_17	208 → 266	PH domain	Domain
  PF00169	PH	294 → 401	PH domain	Domain

• Sequence:

  MASGRRAPRTGLLELRAGAGSGAGGERWQRVLLSLAEDVLTVSPADGDPGPEPGAPREQE
  PAQLNGAAEPGAGPPQLPEALLLQRRRVTVRKADAGGLGISIKGGRENKMPILISKIFKG
  LAADQTEALFVGDAILSVNGEDLSSATHDEAVQVLKKTGKEVVLEVKYMKDVSPYFKNST
  GGTSVGWDSPPASPLQRQPSSPGPTPRNFSEAKHMSLKMAYVSKRCTPNDPEPRYLEICS
  ADGQDTLFLRAKDEASARSWATAIQAQVNTLTPRVKDELQALLAATSTAGSQDIKQIGWL
  TEQLPSGGTAPTLALLTEKELLLYLSLPETREALSRPARTAPLIATRLVHSGPSKGSVPY
  DAELSFALRTGTRHGVDTHLFSVESPQELAAWTRQLVDGCHRAAEGVQEVSTACTWNGRP
  CSLSVHIDKGFTLWAAEPGAARAVLLRQPFEKLQMSSDDGASLLFLDFGGAEGEIQLDLH
  SCPKTIVFIIHSFLSAKVTRLGLLA

• Sequence length: 505

Pathways

KEGG:

Cytoskeleton in muscle cells
Hypertrophic cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Dilated cardiomyopathy
Viral myocarditis

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Atrial fibrillation	Atrial Fibrillation	rs120074192, rs121908590, rs121908593, rs121434558, rs587776851, rs387906612, rs387906613, rs387906614, rs387906615, rs199472687, rs199472705, rs199473324, rs587777336, rs587777339, rs587777557, rs587777558, rs587777559, rs587777560, rs886037778, rs769405762, rs770372675
Dysautonomia	Dysautonomia	rs111033171, rs137853022, rs28939712, rs754348901, rs749052963, rs1057517169, rs1057516865, rs763445509, rs767527819, rs781333644, rs1239081703, rs1554696574, rs539544212, rs1201626345, rs774890086, rs1554703061, rs1554703613, rs1319053366, rs1554703851, rs868073099, rs926177767, rs376078668, rs1554695299, rs1554696648, rs1554696934, rs1554699327, rs1554691572, rs1554695846, rs1554697001, rs770668926, rs1554698037, rs759412460, rs1554702142, rs765572951, rs1554702880, rs1554703831, rs760774999, rs1554696650, rs757972943, rs1554703874, rs1554703907, rs571348995
Long qt syndrome	Long QT Syndrome, Long Qt Syndrome 12	rs121434386, rs120074177, rs104894252, rs120074181, rs120074182, rs120074178, rs120074179, rs120074180, rs12720459, rs120074183, rs120074184, rs120074185, rs120074186, rs17215500, rs120074188, rs387906290, rs1800171, rs120074189, rs120074190, rs120074191, rs120074193, rs120074194, rs120074196, rs116840805, rs116840789, rs116840778, rs1008642, rs104893713, rs104893715, rs121909281, rs28937316, rs28937317, rs137854613, rs137854614, rs137854600, rs137854601, rs397514449, rs137854618, rs121918602, rs281865421, rs28933384, rs121912504, rs121912505, rs28928904, rs121912506, rs1554426258, rs121912507, rs121912508, rs9333649, rs28928905, rs121912509, rs121912510, rs121912511, rs121912512, rs1554424772, rs121912516, rs28933093, rs79891110, rs80315385, rs199472944, rs199472942, rs199476324, rs116840787, rs193922365, rs151344631, rs45546039, rs397507556, rs199472758, rs199472759, rs397508068, rs397508069, rs199472760, rs199472762, rs199472763, rs397508070, rs397508071, rs199473471, rs199472765, rs397508072, rs397508075, rs12720458, rs199473411, rs199473410, rs199473663, rs199472767, rs397508077, rs397508078, rs199472771, rs397508082, rs397508083, rs397508085, rs397508087, rs397508090, rs397508091, rs397508093, rs397508096, rs199473479, rs199472790, rs397508097, rs138551008, rs199472795, rs199473480, rs199472800, rs199472804, rs199472805, rs199472807, rs199472806, rs397508099, rs199473483, rs199472814, rs199472815, rs397508103, rs397508104, rs199472678, rs199473448, rs199472679, rs397508110, rs397508111, rs397508112, rs397508113, rs179489, rs397508114, rs199472693, rs139042529, rs199472696, rs199472697, rs397508115, rs199473394, rs199473397, rs397508116, rs397508117, rs199473662, rs397508118, rs397508120, rs199472702, rs199473456, rs199472708, rs199473457, rs199472709, rs199472710, rs199472712, rs199472713, rs199472716, rs199472719, rs199472720, rs199472722, rs199472721, rs397508125, rs199473460, rs199472726, rs199472727, rs397508126, rs397508127, rs199472730, rs199473462, rs397508129, rs199473466, rs397508130, rs199472743, rs199472745, rs199472748, rs74462309, rs104894255, rs199472749, rs199472751, rs199473470, rs199472754, rs199472755, rs199472756, rs397508134, rs199472794, rs199472801, rs199472687, rs199473661, rs199473398, rs199472701, rs199472823, rs199472705, rs199472706, rs199473459, rs199472718, rs199472734, rs199472740, rs199472750, rs199472753, rs199472895, rs199472836, rs199472911, rs199472912, rs199472916, rs199472918, rs199472919, rs199472845, rs199472921, rs199472922, rs199472926, rs199473423, rs199473413, rs199473426, rs199473428, rs199472934, rs199472936, rs199473522, rs199472939, rs199472941, rs199473524, rs199472945, rs199472946, rs199472947, rs199472948, rs199472950, rs199472953, rs199472954, rs199473039, rs199472957, rs41307295, rs199472961, rs199472968, rs199472970, rs199472971, rs199472979, rs199473665, rs199473419, rs199473420, rs199473421, rs199472986, rs199472990, rs199472995, rs199472999, rs199473538, rs199473005, rs199473004, rs199473018, rs199472859, rs199472862, rs199472830, rs199472884, rs199473108, rs72549410, rs199473584, rs199473225, rs199473623, rs199473631, rs199473311, rs199473072, rs386352319, rs398124647, rs398124648, rs398124650, rs398124649, rs199473354, rs587777437, rs587782933, rs189014161, rs730880374, rs730880116, rs730880043, rs730882252, rs199744595, rs730882253, rs730882254, rs786204101, rs786204395, rs786204839, rs786205745, rs786205748, rs786205753, rs794728721, rs794728740, rs794728783, rs749697698, rs397514251, rs1553694247, rs794728849, rs794728473, rs794728470, rs794728466, rs794728469, rs794728468, rs794728467, rs794728403, rs794728504, rs794728401, rs794728464, rs748706373, rs794728459, rs794728462, rs794728503, rs794728458, rs794728399, rs794728456, rs794728455, rs794728502, rs794728449, rs794728446, rs1554425149, rs794728391, rs794728382, rs794728381, rs1137617, rs794728488, rs794728380, rs794728487, rs794728442, rs794728377, rs794728483, rs794728440, rs794728481, rs794728438, rs201268831, rs794728498, rs794728366, rs794728478, rs794728365, rs770047651, rs794728364, rs794728431, rs794728429, rs794728427, rs794728422, rs794728425, rs794728496, rs794728423, rs794728420, rs761863251, rs794728489, rs754921704, rs794728508, rs794728409, rs794728506, rs794728475, rs794728406, rs794728416, rs794728563, rs1554958092, rs397508109, rs794728549, rs794728565, rs794728566, rs762814879, rs794728547, rs794728580, rs794728569, rs775479779, rs794728517, rs794728581, rs794728523, rs794728571, rs794728527, rs775537394, rs794728558, rs794728561, rs794728531, rs794728535, rs794728562, rs794728576, rs794728537, rs794728540, rs779760381, rs796052171, rs755287627, rs796052197, rs796052198, rs796052196, rs796052199, rs796052200, rs796052166, rs878854347, rs794728568, rs878854349, rs878854350, rs878854348, rs863224478, rs863225288, rs864622309, rs864622174, rs773724817, rs199473441, rs199472951, rs869025448, rs869025447, rs878853771, rs199473412, rs763462603, rs886037906, rs886039183, rs886039045, rs530612385, rs886039385, rs750349088, rs199472893, rs773204795, rs1057518151, rs1057517743, rs1057517742, rs1057517711, rs1057520558, rs1057520598, rs1057520623, rs746877365, rs1060500662, rs1060500661, rs1060500670, rs1554425527, rs1060500621, rs199956744, rs1060500628, rs765169367, rs1060500626, rs1060500627, rs1060500623, rs1060500629, rs397508105, rs786205771, rs1060502608, rs1060502607, rs756159737, rs1554424044, rs1064793434, rs1064794793, rs1064793832, rs794728477, rs199472844, rs1554958132, rs1064795333, rs1064793159, rs1085307620, rs1554425498, rs1554425569, rs1131691762, rs1131692183, rs1131692327, rs199473442, rs1135401944, rs886039043, rs1555843898, rs199473310, rs1554423863, rs1554920580, rs1435990592, rs1554892994, rs1554894448, rs1554424079, rs1554426219, rs1554427317, rs1554428173, rs1554424062, rs1554425320, rs1554425486, rs1554424083, rs1554425226, rs1554425284, rs1554893228, rs1555814427, rs1553431702, rs1554424688, rs1553698563, rs1554424063, rs1554430908, rs1554423871, rs1554424070, rs1554424091, rs1554424390, rs1554424620, rs1385959174, rs1554424849, rs1554426244, rs1554427596, rs1554430850, rs1554893091, rs199472833, rs1554894445, rs1554424138, rs1554427931, rs1554958043, rs1554428170, rs1554427943, rs1554431441, rs1554424671, rs199473517, rs1554895166, rs1555843953, rs758346045, rs1244688796, rs779124360, rs1564821090, rs1563152963, rs1563156868, rs1325525794, rs199472924, rs1563193513, rs1558693760, rs761585108, rs1563156461, rs1564067737, rs199473430, rs1563161565, rs1563169296, rs1564820729, rs397508133, rs199472770, rs1564886323, rs1564820372, rs1564820786, rs1564824264, rs1564886349, rs1563148264, rs749211387, rs1563160541, rs1564825414, rs1568835906, rs1563161538, rs750835733, rs1568469857, rs1569139160, rs199473259, rs1584843033, rs1590081467, rs1584885912, rs1573214371, rs1584841841, rs1584842021, rs1584845263, rs1584846819, rs1584850710, rs1584856544, rs1584883087, rs1584883377, rs1584883517, rs1589884185, rs1589957719, rs1589957756, rs1589957233, rs1584852351, rs1590081328, rs794728578, rs1589931156, rs1584843078, rs1584847173, rs1584855956, rs552508881, rs1584852174, rs1589968661, rs1599759554, rs1599759598, rs1573214163, rs1584863723, rs1589957697, rs1800946921, rs1800958758, rs1801008727, rs1801183828, rs1801406108, rs1801444435, rs1801462423, rs1801935667, rs1848344878, rs1848346228, rs1848360153, rs1554894743, rs1848613641, rs199472974, rs1801941580, rs775362401, rs1846542419, rs1848316236, rs1848322089, rs767921776	18591664, 16301704, 19684871
Ventricular fibrillation	Ventricular Fibrillation	rs137854604, rs587782933, rs190140598

Unknown
Disease name	Disease term	dbSNP ID	References
Grand mal status epilepticus	Grand Mal Status Epilepticus		20886625
Nonconvulsive status epilepticus	Non-Convulsive Status Epilepticus		20886625
Petit mal status	Petit mal status		20886625
Romano-ward syndrome	Romano-Ward Syndrome		24093767
Status epilepticus	Status Epilepticus, Complex Partial Status Epilepticus, Status Epilepticus, Subclinical		20886625
Torsades de pointes	Torsades de Pointes	rs36210421, rs36210419, rs36210415, rs36210416, rs36210420