◎ Sugi Atlas

Atlas / Gene / TSNARE1

TSNARE1

gene
On this page

Also known as FLJ31164

Summary

TSNARE1 (t-SNARE domain containing 1, HGNC:26437) is a protein-coding gene on chromosome 8q24.3, encoding t-SNARE domain-containing protein 1 (Q96NA8).

Predicted to enable SNAP receptor activity and SNARE binding activity. Predicted to be involved in intracellular protein transport; vesicle docking; and vesicle fusion. Predicted to be located in membrane. Predicted to be part of SNARE complex. Predicted to be active in synaptic vesicle.

Source: NCBI Gene 203062 — RefSeq curated summary.

At a glance

  • GWAS associations: 34
  • Clinical variants (ClinVar): 161 total
  • MANE Select transcript: NM_145003

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:26437
Approved symbolTSNARE1
Namet-SNARE domain containing 1
Location8q24.3
Locus typegene with protein product
StatusApproved
AliasesFLJ31164
Ensembl geneENSG00000171045
Ensembl biotypeprotein_coding
OMIM620986
Entrez203062

Gene structure

Transcript identifiers

Ensembl transcripts: 21 — 19 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000307180, ENST00000518720, ENST00000518928, ENST00000519651, ENST00000520166, ENST00000520462, ENST00000521825, ENST00000524325, ENST00000662555, ENST00000862993, ENST00000933487, ENST00000941839, ENST00000941840, ENST00000941841, ENST00000941842, ENST00000941843, ENST00000941844, ENST00000941845, ENST00000941846, ENST00000941847, ENST00000941848

RefSeq mRNA: 7 — MANE Select: NM_145003 NM_001291931, NM_001363740, NM_001366901, NM_001366902, NM_001366903, NM_001366904, NM_145003

CCDS: CCDS6384, CCDS78369, CCDS87630

Canonical transcript exons

ENST00000524325 — 14 exons

ExonStartEnd
ENSE00001141641142284413142284485
ENSE00001141649142300486142300644
ENSE00001141681142330901142330970
ENSE00001293119142331754142331831
ENSE00001296812142345743142345892
ENSE00001316206142343966142344472
ENSE00001326374142229473142229579
ENSE00002091124142212080142212313
ENSE00002131219142403104142403182
ENSE00003464885142354637142354763
ENSE00003501431142314384142314440
ENSE00003509496142318544142318634
ENSE00003649891142274781142274863
ENSE00003662468142315003142315092

Expression profiles

Bgee: expression breadth ubiquitous, 185 present calls, max score 94.60.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.7524 / max 241.4213, expressed in 1573 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter IDTPM avgSamples expressed
954074.37991565
954060.372463

Top tissues by expression

241 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
pancreatic ductal cellCL:000207994.60silver quality
skin of abdomenUBERON:000141691.12gold quality
skin of legUBERON:000151190.95gold quality
right uterine tubeUBERON:000130290.75gold quality
body of pancreasUBERON:000115090.60gold quality
left ovaryUBERON:000211989.86gold quality
right ovaryUBERON:000211889.52gold quality
endocervixUBERON:000045888.61gold quality
zone of skinUBERON:000001488.20gold quality
ectocervixUBERON:001224987.94gold quality
body of uterusUBERON:000985387.78gold quality
right lobe of thyroid glandUBERON:000111987.40gold quality
right frontal lobeUBERON:000281087.32gold quality
left lobe of thyroid glandUBERON:000112087.10gold quality
left uterine tubeUBERON:000130386.71gold quality
ileal mucosaUBERON:000033186.54silver quality
body of stomachUBERON:000116186.49gold quality
popliteal arteryUBERON:000225086.41gold quality
tibial arteryUBERON:000761086.40gold quality
metanephros cortexUBERON:001053386.33gold quality
nerveUBERON:000102186.27gold quality
tibial nerveUBERON:000132386.27gold quality
thyroid glandUBERON:000204686.11gold quality
apex of heartUBERON:000209886.05gold quality
aortaUBERON:000094785.77gold quality
Brodmann (1909) area 9UBERON:001354085.76gold quality
granulocyteCL:000009485.75gold quality
right hemisphere of cerebellumUBERON:001489085.74gold quality
mucosa of stomachUBERON:000119985.63gold quality
sural nerveUBERON:001548885.53gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

ExperimentMarker?Max mean expression
E-ANND-3no1.86

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): E2F1

miRNA regulators (miRDB)

7 targeting TSNARE1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-128-1-5P99.3360.46332
HSA-MIR-128-2-5P99.3360.83311
HSA-MIR-3928-5P98.5067.48980
HSA-MIR-6806-3P98.5067.31980
HSA-MIR-6511B-5P97.9865.64823
HSA-MIR-6811-5P97.9864.96848
HSA-MIR-390796.7665.04662

Literature-anchored findings (GeneRIF, showing 3)

  • GWAS meta analysis identifies TSNARE1 as a novel Schizophrenia / Bipolar susceptibility locus (PMID:24166486)
  • Study provides the first evidence that the minor allele of TSNARE1 rs10098073 is significantly associated with a reduced risk of schizophrenia in a Han Chinese population, suggesting TSNARE1 may represent a susceptibility gene for this disease (PMID:25471352)
  • MAD1L1 and TSNARE gene polymorphisms are associated with schizophrenia susceptibility in the Han Chinese population. (PMID:34481484)

Cross-species orthologs

2 orthologs

OrganismSymbolGene ID
danio_reriotsnare1ENSDARG00000088650
drosophila_melanogasterSyx13FBGN0036341

Paralogs (12): STX7 (ENSG00000079950), STX1B (ENSG00000099365), STX4 (ENSG00000103496), STX1A (ENSG00000106089), STX2 (ENSG00000111450), STX12 (ENSG00000117758), STX16 (ENSG00000124222), STX11 (ENSG00000135604), STX17 (ENSG00000136874), STX5 (ENSG00000162236), STX3 (ENSG00000166900), STX19 (ENSG00000178750)

Protein

Protein identifiers

t-SNARE domain-containing protein 1 — Q96NA8 (reviewed: Q96NA8)

All UniProt accessions (6): Q96NA8, A0A590UJA6, A0AVG3, E5RHT3, E5RHW3, E5RI41

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

Isoforms (2)

UniProt IDNamesCanonical?
Q96NA8-11yes
Q96NA8-22

RefSeq proteins (7): NP_001278860, NP_001350669, NP_001353830, NP_001353831, NP_001353832, NP_001353833, NP_659440* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR000727T_SNARE_domDomain
IPR006011Syntaxin_NDomain
IPR010989SNAREHomologous_superfamily
IPR028002Myb_DNA-bind_5Domain

Pfam: PF05739, PF13873, PF14523

UniProt features (12 total): sequence variant 4, region of interest 2, chain 1, transmembrane region 1, domain 1, compositionally biased region 1, modified residue 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q96NA8-F168.690.24

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (1): 378

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 55 (showing top): GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_VESICLE_ORGANIZATION, GOBP_MEMBRANE_FUSION, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_MEMBRANE_DOCKING, GOBP_ORGANELLE_MEMBRANE_FUSION, GOBP_MEMBRANE_ORGANIZATION, GOBP_VESICLE_DOCKING, GOBP_ORGANELLE_LOCALIZATION, GOBP_ORGANELLE_FUSION, GOCC_EXOCYTIC_VESICLE, GOCC_SECRETORY_VESICLE, GOCC_SNARE_COMPLEX, GOCC_SYNAPSE, GOCC_MEMBRANE_PROTEIN_COMPLEX

GO Biological Process (4): intracellular protein transport (GO:0006886), vesicle fusion (GO:0006906), obsolete vesicle docking (GO:0048278), vesicle-mediated transport (GO:0016192)

GO Molecular Function (3): SNARE binding (GO:0000149), SNAP receptor activity (GO:0005484), protein binding (GO:0005515)

GO Cellular Component (4): synaptic vesicle (GO:0008021), endomembrane system (GO:0012505), SNARE complex (GO:0031201), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cellular anatomical structure2
intracellular protein localization1
protein transport1
intracellular transport1
vesicle organization1
vesicle-mediated transport1
organelle membrane fusion1
transport1
cellular process1
protein binding1
protein-macromolecule adaptor activity1
membrane fusion1
fusogenic activity1
binding1
exocytic vesicle1
presynapse1
vacuole1
plasma membrane1
cytoplasm1
membrane protein complex1

Protein interactions and networks

STRING

1234 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
TSNARE1MAD1L1Q9Y6D9655
TSNARE1CLCN4P51793496
TSNARE1NAXDQ8IW45492
TSNARE1VRK2Q86Y07487
TSNARE1CLCN3P51790480
TSNARE1SNAP91O60641475
TSNARE1SNX11Q9Y5W9475
TSNARE1STAB1Q9NY15461
TSNARE1CNTN4Q8IWV2455
TSNARE1ZNF584Q8IVC4449
TSNARE1TRIM2Q9C040431
TSNARE1RABEP2Q9H5N1424
TSNARE1DRD2P14416422
TSNARE1EXOC4Q96A65418
TSNARE1BOKQ9UMX3399

IntAct

8 interactions, top by confidence:

ABTypeScore
CASQ2PES1psi-mi:“MI:0914”(association)0.530
TSNARE1NEC1psi-mi:“MI:0915”(physical association)0.370
Mpsi-mi:“MI:0914”(association)0.350
S100A2PLEKHG3psi-mi:“MI:0914”(association)0.350
TSNARE1SNAP29psi-mi:“MI:0914”(association)0.350
SDC2ELAPOR2psi-mi:“MI:0914”(association)0.350
CASQ2KCNN4psi-mi:“MI:0914”(association)0.350

BioGRID (46): TSNARE1 (Affinity Capture-MS), NDE1 (Affinity Capture-MS), SNAP29 (Affinity Capture-MS), TSNARE1 (Affinity Capture-MS), APOD (Affinity Capture-MS), NDE1 (Affinity Capture-MS), TSNARE1 (Two-hybrid), TSNARE1 (Affinity Capture-RNA), TSNARE1 (Two-hybrid), TSNARE1 (Two-hybrid), TSNARE1 (Two-hybrid), TSNARE1 (Two-hybrid), TSNARE1 (Two-hybrid), TSNARE1 (Two-hybrid), TSNARE1 (Two-hybrid)

ESM2 similar proteins: A1L3C1, A2AWP8, A2RRU4, A6QM06, A6QNS9, E1BBQ2, F1LQY6, G3V9M2, O43189, O94827, P29372, P29590, P41155, P97260, Q01113, Q02833, Q04841, Q0P5I0, Q12770, Q13387, Q13505, Q29RM4, Q32L49, Q3V1H9, Q5MNU5, Q5R5M3, Q66T02, Q69Z89, Q6GQT6, Q6IPT2, Q6RFZ7, Q6ZN54, Q70EL4, Q7Z6G3, Q8BQB4, Q8C4U2, Q8N1F8, Q8N554, Q8WWW0, Q8WXF8

Diamond homologs: A7MBH3, Q5ZI27, Q69YI7, Q6PFD7, Q96NA8, Q9BE21, A8WVD0, G3V7P1, O14662, O15400, O16000, O35526, O64791, O65359, O70257, O70439, O94651, P32850, P32851, P32854, P32856, P50279, P61264, P61265, P61266, P61267, P61268, P70452, P91409, Q00262, Q08144, Q08849, Q08850, Q12846, Q13277, Q16623, Q16932, Q24547, Q3SWZ3, Q3ZBT5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

161 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance120
Likely benign10
Benign3

Top pathogenic / likely-pathogenic (0)

SpliceAI

6104 predictions. Top by Δscore:

VariantEffectΔscore
8:142229472:CCA:Cdonor_gain1.0000
8:142271232:T:TAdonor_gain1.0000
8:142274779:A:ACdonor_gain1.0000
8:142274779:ACTTG:Adonor_loss1.0000
8:142274780:C:CAdonor_gain1.0000
8:142274860:CTAT:Cacceptor_gain1.0000
8:142274861:TAT:Tacceptor_gain1.0000
8:142274864:C:CAacceptor_loss1.0000
8:142274864:C:CCacceptor_gain1.0000
8:142284481:TTGCT:Tacceptor_gain1.0000
8:142284482:TGCT:Tacceptor_gain1.0000
8:142284482:TGCTC:Tacceptor_loss1.0000
8:142284483:GCTC:Gacceptor_loss1.0000
8:142284484:CT:Cacceptor_gain1.0000
8:142284485:TCTG:Tacceptor_loss1.0000
8:142284486:C:CAacceptor_loss1.0000
8:142284486:C:CCacceptor_gain1.0000
8:142284487:T:Cacceptor_loss1.0000
8:142300480:CCTCA:Cdonor_loss1.0000
8:142300481:CTCA:Cdonor_loss1.0000
8:142300482:TCAC:Tdonor_loss1.0000
8:142300483:CAC:Cdonor_loss1.0000
8:142300485:C:Tdonor_loss1.0000
8:142300643:CTCTG:Cacceptor_gain1.0000
8:142330899:A:ACdonor_gain1.0000
8:142330900:C:CCdonor_gain1.0000
8:142330900:CAGG:Cdonor_gain1.0000
8:142330971:C:CCacceptor_gain1.0000
8:142331752:A:ACdonor_gain1.0000
8:142331753:C:CCdonor_gain1.0000

AlphaMissense

3307 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
8:142344149:A:GW188R0.998
8:142344149:A:TW188R0.998
8:142344150:C:AK187N0.996
8:142344150:C:GK187N0.996
8:142344327:G:CF128L0.996
8:142344327:G:TF128L0.996
8:142344329:A:GF128L0.996
8:142344147:C:AW188C0.995
8:142344147:C:GW188C0.995
8:142344221:A:GW164R0.995
8:142344221:A:TW164R0.995
8:142344328:A:GF128S0.995
8:142344139:A:GL191P0.991
8:142344148:C:GW188S0.991
8:142344328:A:CF128C0.991
8:142344156:C:AK185N0.990
8:142344156:C:GK185N0.990
8:142344211:A:GI167T0.989
8:142344267:A:CF148L0.989
8:142344267:A:TF148L0.989
8:142344269:A:GF148L0.989
8:142344339:C:AR124S0.989
8:142344339:C:GR124S0.989
8:142344152:T:CK187E0.988
8:142344176:G:TR179S0.988
8:142344304:A:GL136P0.988
8:142344316:T:AE132V0.987
8:142344336:C:AK125N0.985
8:142344336:C:GK125N0.985
8:142344219:C:AW164C0.984

dbSNP variants (sampled 300 via entrez): RS1000001805 (8:142276248 C>T), RS1000005330 (8:142271315 G>A,T), RS1000011563 (8:142231637 G>A), RS1000016913 (8:142332587 C>T), RS1000036114 (8:142365015 T>C), RS1000037704 (8:142383426 A>G), RS1000043991 (8:142301758 G>A,C), RS1000047237 (8:142335869 T>C), RS1000080878 (8:142369286 C>G), RS1000081183 (8:142236377 C>A,T), RS1000093572 (8:142370871 C>G), RS1000098224 (8:142271452 C>A), RS1000102826 (8:142366471 A>G), RS1000116223 (8:142236476 C>T), RS1000133941 (8:142397596 G>A)

Disease associations

OMIM: gene MIM:620986 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

34 associations (top):

StudyTraitp-value
GCST002149_7Schizophrenia2.000000e-10
GCST002539_1Schizophrenia2.000000e-15
GCST003075_134Cognitive decline rate in late mild cognitive impairment2.000000e-10
GCST003075_135Cognitive decline rate in late mild cognitive impairment2.000000e-08
GCST003075_22Cognitive decline rate in late mild cognitive impairment2.000000e-10
GCST003075_24Cognitive decline rate in late mild cognitive impairment2.000000e-08
GCST004521_14Autism spectrum disorder or schizophrenia2.000000e-12
GCST004521_237Autism spectrum disorder or schizophrenia4.000000e-10
GCST004521_241Autism spectrum disorder or schizophrenia4.000000e-09
GCST004946_54Schizophrenia2.000000e-08
GCST005316_93Intelligence (MTAG)3.000000e-09
GCST006269_1077General cognitive ability3.000000e-11
GCST006269_608General cognitive ability4.000000e-13
GCST006624_60Systolic blood pressure1.000000e-12
GCST006803_5Schizophrenia9.000000e-18
GCST006948_51Feeling nervous1.000000e-10
GCST006952_32Feeling tense8.000000e-10
GCST007201_103Schizophrenia9.000000e-09
GCST007201_276Schizophrenia4.000000e-13
GCST007257_10Broad depression or schizophrenia4.000000e-12
GCST007267_118Systolic blood pressure9.000000e-11
GCST007324_38Adventurousness3.000000e-08
GCST007325_128General risk tolerance (MTAG)5.000000e-11
GCST007710_14Anxiety/tension (special factor of neuroticism)2.000000e-08
GCST007824_6Monoclonal gammopathy of undetermined significance3.000000e-06
GCST008550_6Mental health study participation (completed survey)1.000000e-09
GCST008595_129Cognitive ability, years of educational attainment or schizophrenia (pleiotropy)4.000000e-12
GCST009600_71Anorexia nervosa, attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, or Tourette syndrome (pleiotropy)2.000000e-15
GCST010397_61Gut microbiota (bacterial taxa, rank normal transformation method)4.000000e-06
GCST010988_385Adult body size4.000000e-09

EFO canonical traits (13, from GWAS)

EFO IDTrait name
EFO:0007710cognitive decline measurement
EFO:0004337intelligence
EFO:0006335systolic blood pressure
EFO:0009597feeling nervous measurement
EFO:0009596feeling tense measurement
EFO:0008579risk-taking behaviour
EFO:0009863anxiety measurement
EFO:0010130health study participation
EFO:0004784self reported educational attainment
EFO:0007874gut microbiome measurement
EFO:0009819comparative body size at age 10, self-reported
EFO:0008343sex interaction measurement
EFO:0009749age at first sexual intercourse measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

32 total (human), top 30 by PubMed support.

ChemicalActions (top 5)PubMed papers
Benzo(a)pyreneaffects methylation, decreases expression3
bisphenol Sdecreases expression, decreases methylation2
Aflatoxin B1decreases expression, increases methylation2
aristolochic acid Idecreases expression1
bisphenol Faffects cotreatment, increases methylation1
alpha-pineneaffects cotreatment, decreases expression, increases abundance1
bisphenol Aaffects methylation, affects cotreatment1
benzo(e)pyreneaffects methylation, increases methylation1
aflatoxin B2increases methylation1
methacrylaldehydeaffects cotreatment, decreases expression, increases abundance1
CGP 52608affects binding, increases reaction1
jinfukangincreases expression1
Fulvestrantaffects methylation, increases methylation, affects cotreatment1
Acetaminophendecreases expression1
Acroleinaffects cotreatment, decreases expression, increases abundance1
Air Pollutantsaffects cotreatment, decreases expression, increases abundance1
Arsenicaffects methylation1
Vehicle Emissionsincreases abundance, increases expression1
Diazinonincreases methylation1
Dimethyl Sulfoxideaffects expression1
Methapyrileneaffects methylation, increases methylation1
Ozoneaffects cotreatment, decreases expression, increases abundance1
Phthalic Acidsaffects methylation1
Smokedecreases expression1
Tobacco Smoke Pollutiondecreases expression1
Valproic Acidincreases methylation1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxidedecreases expression1
Gold Compoundsincreases expression1
Cadmium Chloridedecreases expression1
Acrylamidedecreases expression1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.

  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): monoclonal gammopathy

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
Atlas version
v1.1.4
BioBTree
v2.0.2

Sources 74

This page pulls from 74 datasets indexed by BioBTree:

alphafoldalphamissenseantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticsccdscellosauruschembl_activitychembl_targetciviccivic_evidenceclingen_dosageclingen_gene_validityclinical_trialsclinvarcollectrictd_gene_interactiondbsnpdepmapdiamond_similarityefoensemblentrezesm2_similarityexonfantom5_genefantom5_promotergenccgenerifgogoparentgtopdbgwasgwas_studyhgnchpointactinterprointogenjasparmeshmimmirdbmondomsigdborphanetorthologparalogpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assaypubmedreactomerefseqrhearnacentralscxa_expressionscxa_gene_experimentsignorspliceaistring_interactiontranscriptufeatureuniprot