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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

STX1A Gene

protein-coding GIFtS: 68
GCID: GC07M073113

syntaxin 1A (brain)

(Previous symbol: STX1)

Explore 28 diseases affiliated with
STX1A via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Syntaxin 1A (Brain)¹ ²		P35-1²
STX1¹ ² ³ ⁵		P35-1²
HPC-1¹ ²		SYN1A²
Neuron-Specific Antigen HPC-1² ³		Syntaxin-1A¹

External Ids:	HGNC: 11433¹	Entrez Gene: 6804²	Ensembl: ENSG00000106089⁷	OMIM: 186590⁵	UniProtKB: Q16623³

Export aliases for STX1A gene to outside databases

Previous GC identifers: GC07M071753 GC07M072511 GC07M072525 GC07M072500 GC07M072558 GC07M072751 GC07M068995

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for STX1A:

This gene encodes a member of the syntaxin superfamily. Syntaxins are nervous system-specific proteins implicated in

the docking of synaptic vesicles with the presynaptic plasma membrane. Syntaxins possess a single C-terminal

transmembrane domain, a SNARE (Soluble NSF (N-ethylmaleimide-sensitive fusion protein)-Attachment protein REceptor)

domain (known as H3), and an N-terminal regulatory domain (Habc). Syntaxins bind synaptotagmin in a calcium-dependent

fashion and interact with voltage dependent calcium and potassium channels via the C-terminal H3 domain. This gene

product is a key molecule in ion channel regulation and synaptic exocytosis. Alternatively spliced transcript variants

encoding different isoforms have been found for this gene.(provided by RefSeq, Sep 2009)

UniProtKB/Swiss-Prot: STX1A_HUMAN, Q16623

Function: Potentially involved in docking of synaptic vesicles at presynaptic active zones. May play a critical role in

neurotransmitter exocytosis. May mediate Ca(2+)-regulation of exocytosis acrosomal reaction in sperm

Gene Wiki entry for STX1A

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000007.13 NC_018918.1 NT_007933.15 NT_079593.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the STX1A gene promoter:
E2F-3a AP-1 ATF-2 E2F-2 E2F E2F-1 c-Jun NF-kappaB1 ATF6
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): STX1A promoter sequence

Search SABiosciences Chromatin IP Primers for STX1A

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat STX1A

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q11.23 Ensembl cytogenetic band: 7q11.23 HGNC cytogenetic band: 7q11.2

STX1A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
STX1A gene location

GeneLoc information about chromosome 7 GeneLoc Exon Structure

GeneLoc location for GC07M073113: view genomic region (about GC identifiers)

Start:	73,113,535 bp from pter	End:	73,134,017 bp from pter
Size:	20,483 bases	Orientation:	minus strand

1 alternative location:

Chr7-,CRA_TCAG 72,446,607-72,467,089

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: STX1A_HUMAN, Q16623 (See protein sequence)

Recommended Name: Syntaxin-1A

Size: 288 amino acids; 33023 Da

Subunit: Part of the SNARE core complex containing SNAP25, VAMP2 and STX1A. This complex binds to CPLX1. Binds SYTL4

and STXBP6. Found in a ternary complex with STX1A and SNAP25. Interacts with OTOF and LGI3. Interacts with SLC6A4.

Interacts with SYT6 and SYT8; the interaction is Ca(2+)-dependent (By similarity). Found in a complex with VAMP8 and

SNAP23. Interacts with VAPA and SYBU. Interacts with STXBP1 and DAPK1

Subcellular location: Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane; Single-pass type IV membrane

protein (By similarity). Cell junction, synapse, synaptosome (By similarity)

Subcellular location: Isoform 2: Secreted (Probable)

Sequence caution: Sequence=AAA20940.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

Secondary accessions: O15447 O15448 Q12936 Q75MD9 Q9BPZ6

Alternative splicing: 3 isoforms: Q16623-1 Q16623-2 Q16623-3

Explore the universe of human proteins at neXtProt for STX1A: NX_Q16623

Post-translational modifications:

Phosphorylated by CK2 (By similarity). Phosphorylation at Ser-188 by DAPK1 significantly decreases its interaction with

STXBP1¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q16623

STX1A Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001159375.1 NP_004594.1

ENSEMBL proteins:

ENSP00000222812 ENSP00000378585 ENSP00000378583 ENSP00000378584

Reactome Protein details: Q16623
Human Recombinant Protein Products:

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	Uscn Proteins for STX1A

Gene Ontology (GO): 5/17 cellular component terms (GO ID links to tree view) (see all 17): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	IEA	--
GO:0005624	membrane fraction	--	--
GO:0005886	plasma membrane	TAS	--
GO:0008021	synaptic vesicle	--	--
GO:0016020	membrane	--	--

STX1A for ontologies About GeneDecksing

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Assay Products for STX1A:

	Browse Kits and Assays available from EMD Millipore
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	GenScript Custom Assay Services for STX1A
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for STX1A

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

STX1A for domains About GeneDecksing

5 InterPro domains/families:

IPR000727 T_SNARE_dom

IPR010989 t-SNARE

IPR006011 Syntaxin_N

IPR015709 Syntaxin-1

IPR006012 Syntaxin/epimorphin_CS

Graphical View of Domain Structure for InterPro Entry Q16623

ProtoNet protein and cluster: Q16623

1 Blocks protein family: IPB006011 Syntaxin

UniProtKB/Swiss-Prot: STX1A_HUMAN, Q16623

Similarity: Belongs to the syntaxin family

Similarity: Contains 1 t-SNARE coiled-coil homology domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: STX1A_HUMAN, Q16623

Function: Potentially involved in docking of synaptic vesicles at presynaptic active zones. May play a critical role in

neurotransmitter exocytosis. May mediate Ca(2+)-regulation of exocytosis acrosomal reaction in sperm

Genatlas biochemistry entry for STX1A:

syntaxin 1A,expressed in the nervous system at the early stage of embryogenesis,strongly related to the cognitive

processes,forming a synaptic core complex with synaptosome associated proteins and synaptobrevin,binding to N-type

Ca2+ channels,involved in the intracellular membrane transport and exocytosis process of neurotransmitters,deleted in

Williams syndrome,soluble N ethylmaleimide-sensitive factor-attachment protein receptor,SNARE protein

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		8/40 QIAGEN miScript miRNA Assays for microRNAs that regulate STX1A (see all 40):
		hsa-miR-429 hsa-miR-15a hsa-miR-128 hsa-miR-29a hsa-miR-449a hsa-miR-9 hsa-miR-424 hsa-miR-200b

		SwitchGear 3'UTR luciferase reporter plasmid: STX1A 3' UTR sequence

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for STX1A

Gene Ontology (GO): 5/13 molecular function terms (GO ID links to tree view) (see all 13): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000149	SNARE binding	IEA	--
GO:0001948	glycoprotein binding	IEA	--
GO:0005484	SNAP receptor activity	IEA	--
GO:0005515	protein binding	IPI	10321247
GO:0017022	myosin binding	--	--

STX1A for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-outs for STX1A: Stx1a^tm2.1Sud Stx1a^tm1Tfuj Stx1a^tm1.1Sud Stx1a^tm1Gwz
     8 MGI mutant phenotypes (inferred from 5 alleles) (MGI details for Stx1a):

behavior/neurological	embryogenesis	growth/size	homeostasis/metabolism	mortality/aging
nervous system	no phenotypic analysis	normal

STX1A for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/16 super-pathways (see all 16) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Serotonin Neurotransmitter Release Cycle

Serotonin Neurotransmitter Release Cycle	1.00	Acetylcholine Neurotransmitter Release Cycle	0.53
Dopamine Neurotransmitter Release Cycle	1.00	Glutamate Neurotransmitter Release Cycle	0.42
Norepinephrine Neurotransmitter Release Cycle	0.60	Effects of Botulinum toxin	0.40

GABA synthesis, release, reuptake and degradation

GABA synthesis, release, reuptake and degradation

1.00

Neurotransmitter Release Cycle

0.53

Insulin Processing

Insulin Processing

1.00

Peptide hormone metabolism

0.39

Exocytosis of Insulin

Exocytosis of Insulin

1.00

Traversal of the cortical actin network and docking at plasma membrane

0.38

Regulation of Insulin Secretion

Regulation of Insulin Secretion

1.00

Integration of energy metabolism

0.74

Pathway sources
See GeneCards unified pathways
Show all pathways

1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for STX1A

Epithelial Tight Junctions

3 GeneGo (Thomson Reuters) Pathways for STX1A

	wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)
	Regulation of CFTR activity (norm and CF)
	wtCFTR and deltaF508 traffic / Membrane expression (norm and CF)

3 BioSystems Pathways for STX1A

	Monoamine Transport
	Synaptic Vesicle Pathway
	Effects of Botulinum toxin

5/20 Reactome Pathways for STX1A (see all 20)

	Proteolytic cleavage of SNARE complex proteins
	Transmission across Chemical Synapses
	Metabolism
	Regulation of Insulin Secretion
	Neuronal System

1 PharmGKB Pathway for STX1A

Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics

1 Kegg Pathway (Kegg details for STX1A):

SNARE interactions in vesicular transport

STX1A for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for STX1A

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/106 Interacting proteins for STX1A (Q16623^{2, 3} ENSP00000222812⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 106)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CCSER2	Q9H7U1²^,³, ENSP00000224756⁴	MINT-64287 I2D: score=5 STRING: ENSP00000224756
VIM	P08670²^,³, ENSP00000224237⁴	MINT-64286 I2D: score=5 STRING: ENSP00000224237
SNAP25	P60880²^,³, ENSP00000254976⁴	MINT-63924 I2D: score=11 STRING: ENSP00000254976
STXBP1	P61764³, ENSP00000362399⁴	I2D: score=7 STRING: ENSP00000362399
VAMP2	P63027³, ENSP00000314214⁴	I2D: score=6 STRING: ENSP00000314214

About this table

Gene Ontology (GO): 5/14 biological process terms (GO ID links to tree view) (see all 14): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001956	positive regulation of neurotransmitter secretion	IEA	--
GO:0006112	energy reserve metabolic process	TAS	--
GO:0006886	intracellular protein transport	IEA	--
GO:0007268	synaptic transmission	TAS	--
GO:0007269	neurotransmitter secretion	TAS	--

STX1A for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

STX1A for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for STX1A
10/22 Novoseek chemical compound relationships for STX1A gene (see all 22) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
csp-1	71.1	1	9593683 (1)
calcium	43.2	55	10548106 (3), 19004828 (3), 8604041 (2), 10692440 (2) (see all 28)
katp	33.7	7	16774559 (2), 15339904 (2), 16672225 (1), 17965341 (1) (see all 5)
sulfonylurea	28.9	4	16672225 (2), 17878408 (1), 15339904 (1)
gaba	27.7	6	11017172 (1), 11741293 (1), 16861228 (1), 8134021 (1) (see all 5)
cysteine	19.3	7	11463334 (3), 19158383 (1), 12761168 (1)
norepinephrine	17.2	6	12629174 (2), 16289633 (1), 7612024 (1), 17032905 (1) (see all 5)
chloride	16.2	10	9724814 (5), 11017172 (1), 10198254 (1), 12209004 (1) (see all 5)
glucose	13.4	19	9070225 (3), 19716806 (2), 17912268 (1), 10409120 (1) (see all 11)
amphetamine	11.6	1	17032905 (1)

Search CenterWatch for drugs/clinical trials and news about STX1A

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for STX1A gene (2 alternative transcripts):

NM_001165903.1 NM_004603.3

Unigene Cluster for STX1A:

Syntaxin 1A (brain)

Hs.647024 [show with all ESTs]

Unigene Representative Sequence: BC064644

14 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000222812(uc003tyx.3) ENST00000395156(uc003tyy.3) ENST00000484736

ENST00000480126 ENST00000491645 ENST00000395154(uc010lbj.2) ENST00000497980

ENST00000491427 ENST00000496216 ENST00000395155 ENST00000461441 ENST00000470878

ENST00000494245 ENST00000462135

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat STX1A

Additional cDNA sequence:

AK313980.1 BC000444.2 BC003011.1 BC064644.1 CR457018.1 D37932.1 L37792.1 U12918.1

14 DOTS entries:

DT.444613 DT.92424943 DT.95173220 DT.121099581 DT.101979306 DT.100794773 DT.100794774 DT.95173218

DT.40251548 DT.315047 DT.121099531 DT.121099575 DT.92034050 DT.92424947

24/172 AceView cDNA sequences (see all 172):

BU848697 BX460761 CD107173 CD367370 D37932 BC003011 BC064644 BM754838

CR601836 AI815836 BE793363 BX418034 BX441602 BC000444 BE784029 CA412016

BM744199 BI916931 BQ232948 BM763056 BU631483 CA950858 F04110 CR621226

GeneLoc Exon Structure

5/10 Alternative Splicing Database (ASD) splice patterns (SP) for STX1A (see all 10) About this scheme

ExUns:	1a	·	1b	·	1c	^	2	^	3	^	4	^	5	^	6a	·	6b	^	7	^	8a	·	8b	^	9a	·	9b	^	10a	·	10b	^	11a	·	11b	·	11c	·	11d	·	11e	^	12a	·	12b	·	12c
SP1:							-						-		-																-		-		-		-
SP2:							-						-		-																-		-		-
SP3:							-						-		-
SP4:													-		-
SP5:															-																-		-

ECgene alternative splicing isoforms for STX1A

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

STX1A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CAGCAGGGGA

About this image

STX1A expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

10/11 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 11)

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Ganglion Cell Layer

Cholinergic Amacrine Cells

Amacrine, Retina

Eye

Ganglion Cell Layer

Displaced Amacrine Cells

Amacrine, Retina

Eye

Ganglion Cell Layer

Dopaminergic Amacrine Cells

Amacrine, Retina

Amacrine, Retina

Cholinergic Amacrine Cells

Amacrine, Retina

Eye

Inner Nuclear Layer

Dopaminergic Amacrine Cells

Amacrine, Retina

Eye

Inner Nuclear Layer

GABAergic Amacrine Cells

Amacrine, Retina

Eye

Inner Nuclear Layer

Glycinergic Amacrine Cells

Amacrine, Retina

Amacrine, Retina

Dorsal Pancreatic Bud

Immature Beta Progenitor Cells

Pancreas

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

PureStem™ progenitor F15 (Embryonic Progenitor Cell)

See STX1A Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for STX1A

SOURCE GeneReport for Unigene cluster: Hs.647024

UniProtKB/Swiss-Prot: STX1A_HUMAN, Q16623

Tissue specificity: Isoform 1 is highly expressed in embryonic spinal chord and ganglia and in adult cerebellum and

cerebral cortex. Isoform 2 is expressed in heart, liver, fat, skeletal muscle, kidney and brain

SABiosciences Custom PCR Arrays for STX1A

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of eukaryotes.

Orthologs for STX1A gene from 9/32 species (see all 32) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	F1N861_CHICK⁶	Uncharacterized protein	93(a)	1 ↔ 1	19(81099-120170)
lizard (Anolis carolinensis)	Reptilia	STX1A⁶	--	95(a)	1 ↔ 1	GL343734.1(246332-251460)
tropical clawed frog (Xenopus tropicalis)	Amphibia	BX703670.1²	--	78.78(n)		BX703670.1
zebrafish (Danio rerio)	Actinopterygii	CU856540.2⁶	--	65(a)	1 ↔ 1	15(1729632-1742169)
fruit fly (Drosophila melanogaster)	Insecta	Syx1A^{1 , 3}	regulation of pole plasm oskar mRNA localization more³ Syntaxin 1A¹	70(a)³ 69.7(n)¹ 70.98(a)¹		95E1³ 42854¹ NM_079751.4¹ NP_524475.1¹
worm (Caenorhabditis elegans)	Secernentea	unc-64¹	Protein UNC-64	60.89(n) 66.43(a)		176743 NM_001027444.2 NP_001022615.1
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	SSO2(YMR183C)⁴ SSO2¹	Plasma membrane t-SNARE involved in fusion of secretory more⁴ Sso2p¹	44.72(n)¹ 31.69(a)¹		13(627808-626921)⁴ 855221^{1, 4} NP_013908.1^{1, 4}
thale cress (Arabidopsis thaliana)	eudicotyledons	SYP131¹	syntaxin 1B/2/3	43.4(n) 26.27(a)		821141 NM_111251.2 NP_187030.1
rice (Oryza sativa)	Liliopsida	Os07g0164300¹	hypothetical protein	43.21(n) 26.3(a)		4342474 NM_001065494.1 NP_001058959.2

ENSEMBL Gene Tree for STX1A (if available)
TreeFam Gene Tree for STX1A (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for STX1A gene

STX2² STX11² STX1B² STX3² STX19² STX4²

10 SIMAP similar genes for STX1A using alignment to 3 protein entries: STX1A_HUMAN (see all proteins):

stx1c STX1B STX2 STX3 DKFZp686L1857 STX3A

STX4A STX4 STX11 STX19

STX1A for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 7 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs117239706^1,2	C,F,	--	72446942(+)	`GGACAC/TGTGAC`	2	--	ut3¹		1		EA	120
rs73362395^1,2	C,	--	72447097(+)	`CTTTGC/TCTCCC`	2	--	ut3¹		1		WA	2
rs67857803^1,2	C,F,	--	72447461(+)	`AGGGTC/TCCCAG`	2	--	ut3¹		3		NA	124
rs1569061^1,2	C,F,A,H,	--	72447553(-)	`AGCGAG/AGAGCA`	2	--	ut3¹ ese³		19		MN NS EA NA CSA WA	2391
rs72555387^1,2	C,	--	72447717(-)	`CCCCGC/TCTCTG`	2	--	ut3¹		1		CSA	2
rs191664966^1,2	C	--	72447797(+)	`GGCAGG/TTTGGG`	2	--	ut3¹		0	--	--	--	--
rs112742233^1,2		--	72448417(+)	`GGCCAG/AGCAGG`	2	--	int¹		2		CSA WA	120
rs4582436^1,2	C	--	72449335(+)	`ctaaaA/Ccaaaa`	2	--	int¹		1		NA	2
rs12539475^1,2	C,F,A,H,	--	72450492(+)	`GGGCCT/CGAGGC`	2	--	int¹		3		NA EA	1104
rs77026096^1,2	C,	--	72450982(+)	`TGCCGC/TTGACA`	2	--	int¹		2		NA	122

HapMap Linkage Disequilibrium report for STX1A (73113535 - 73134017 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for STX1A: --
Human Gene Mutation Database (HGMD): STX1A

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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STX1A for disorders About GeneDecksing

OMIM gene information: 186590 OMIM disorders: --

UniProtKB/Swiss-Prot: STX1A_HUMAN, Q16623

Note=STX1A is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous

deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between

highly homologous low-copy repeat sequences flanking the deleted region

20/28 diseases for STX1A (see all 28): About MalaCards

thrombotic thrombocytopenic purpura williams-beuren syndrome hemolytic-uremic syndrome williams syndrome

neuronitis cystic fibrosis tetanus hirschsprung's disease

malignant glioma pheochromocytoma shigellosis alzheimer's disease

fibrosis insulinoma astrocytoma purpura

diarrhea migraine hermaphroditism lung cancer

2 diseases from the University of Copenhagen DISEASES database for STX1A:

hemolytic-uremic syndrome Diarrhea

8 Novoseek disease relationships for STX1A gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
williams syndrome	57.2	7	9763659 (2), 10644452 (2), 10874638 (1), 11977160 (1)
cystic fibrosis	37	9	12446681 (2), 9724814 (2), 11017172 (1), 10990372 (1) (see all 5)
tetanus	30.7	1	16150968 (1)
glioma	2.91	2	12584187 (2)
astrocytoma	0	2	12586365 (1), 15037634 (1)
shock	0	1	17208201 (1)
pheochromocytoma	0	1	9570782 (1)
alzheimers disease	0	2	16413130 (1)

Genetic Association Database (GAD): STX1A
Human Genome Epidemiology (HuGE) Navigator: STX1A (10 documents)

Export disorders for STX1A gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for STX1A gene, integrated from 9 sources (see all 294):
(articles sorted by number of sources associating them with STX1A)

Utopia: connect your pdf to the dynamic
world of online information

Mapping of the human HPC-1/syntaxin 1A gene (STX1A) to chromosome 7 band q11.2. (PubMed id 9177791)^{1, 2, 9} Nakayama T.... Akagawa K. (1997)
Novel isoform of syntaxin 1 is expressed in mammalian cells. (PubMed id 9003414)^{1, 2, 9} Jagadish M.N....Ward C.W. (1997)
Cloning and sequence analysis of a cDNA encoding human syntaxin 1A, a polypeptide essential for exocytosis. (PubMed id 7622072)^{1, 2, 9} Zhang R.-D.... Simpson L.L. (1995)
Phosphoproteomic analysis of synaptosomes from human cerebral cortex. (PubMed id 15822905)^{1, 2} DeGiorgis J.A.... Dosemeci A. (2005)
Syntabulin is a microtubule-associated protein implicated in syntaxin transport in neurons. (PubMed id 15459722)^{1, 2} Su Q.... Sheng Z.-H. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Ca2+-dependent phosphorylation of syntaxin-1A by the death-associated protein (DAP) kinase regulates its interaction with Munc18. (PubMed id 12730201)^{1, 2} Tian J.H....Sheng Z.H. (2003)
The DNA sequence of human chromosome 7. (PubMed id 12853948)^{1, 2} Hillier L.W.... Wilson R.K. (2003)
Vesicle-associated membrane protein 3 (VAMP-3) and VAMP-8 are present in human platelets and are required for granule secretion. (PubMed id 12130530)^{1, 2} Polgar J.... Reed G.L. (2002)
Single nucleotide polymorphism (D68D, T to C) in the syntaxin 1A gene correlates to age at onset and insulin requirement in Type II diabetic patients. (PubMed id 11719842)^{1, 4} Tsunoda K....Nanjo K. (2001)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 6804	HGNC: 11433	AceView: STX1A	Ensembl:ENSG00000106089	euGenes: HUgn6804
ECgene: STX1A	Kegg: 6804	H-InvDB: STX1A

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for STX1A	Pharmacogenomics, SNPs, Pathways

Intellectual Property for STX1A gene
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Patent Information for STX1A gene:
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GeneCards and IP:
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syntaxin 1A (brain)

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syntaxin 1A (brain)

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