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Q16623 (STX1A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 143. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Syntaxin-1A
Alternative name(s):
Neuron-specific antigen HPC-1
Gene names
Name:STX1A
Synonyms:STX1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length288 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Potentially involved in docking of synaptic vesicles at presynaptic active zones. May play a critical role in neurotransmitter exocytosis. May mediate Ca2+-regulation of exocytosis acrosomal reaction in sperm.

Subunit structure

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 Ca2+-dependent By similarity. Found in a complex with VAMP8 and SNAP23. Interacts with VAPA and SYBU. Interacts with STXBP1 and DAPK1. Ref.10 Ref.11 Ref.12

Subcellular location

Cytoplasmic vesiclesecretory vesiclesynaptic vesicle membrane; Single-pass type IV membrane protein By similarity. Cell junctionsynapsesynaptosome By similarity.

Isoform 2: Secreted Probable.

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. Ref.9

Post-translational modification

Phosphorylated by CK2 By similarity. Phosphorylation at Ser-188 by DAPK1 significantly decreases its interaction with STXBP1. Ref.11

Involvement in disease

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.

Sequence similarities

Belongs to the syntaxin family.

Contains 1 t-SNARE coiled-coil homology domain.

Sequence caution

The sequence AAA20940.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Ontologies

Keywords
   Biological processExocytosis
Neurotransmitter transport
Transport
   Cellular componentCell junction
Cytoplasmic vesicle
Membrane
Secreted
Synapse
Synaptosome
   Coding sequence diversityAlternative splicing
   DiseaseWilliams-Beuren syndrome
   DomainCoiled coil
Transmembrane
Transmembrane helix
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcalcium ion-dependent exocytosis

Inferred from electronic annotation. Source: Ensembl

cellular protein metabolic process

Traceable author statement. Source: Reactome

energy reserve metabolic process

Traceable author statement. Source: Reactome

glutamate secretion

Traceable author statement. Source: Reactome

intracellular protein transport

Inferred from electronic annotation. Source: InterPro

neurotransmitter secretion

Traceable author statement. Source: Reactome

positive regulation of exocytosis

Inferred from electronic annotation. Source: Ensembl

positive regulation of neurotransmitter secretion

Inferred from electronic annotation. Source: Ensembl

regulation of insulin secretion

Traceable author statement PubMed 15537656. Source: UniProtKB

response to gravity

Inferred from electronic annotation. Source: Ensembl

small molecule metabolic process

Traceable author statement. Source: Reactome

synaptic transmission

Traceable author statement. Source: Reactome

synaptic vesicle docking involved in exocytosis

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentSNARE complex

Inferred from direct assay PubMed 19546860. Source: UniProtKB

actomyosin

Inferred from electronic annotation. Source: Ensembl

cell junction

Inferred from electronic annotation. Source: UniProtKB-KW

extracellular region

Inferred from electronic annotation. Source: UniProtKB-SubCell

integral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

neuron projection

Inferred from direct assay PubMed 12115694. Source: MGI

plasma membrane

Traceable author statement. Source: Reactome

secretory granule

Inferred from electronic annotation. Source: Ensembl

synaptic vesicle membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

synaptobrevin 2-SNAP-25-syntaxin-1a complex

Inferred from electronic annotation. Source: Ensembl

synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex

Inferred from electronic annotation. Source: Ensembl

synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II complex

Inferred from electronic annotation. Source: Ensembl

   Molecular_functioncalcium channel inhibitor activity

Inferred from electronic annotation. Source: Ensembl

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q16623-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q16623-2)

Also known as: 1C;

The sequence of this isoform differs from the canonical sequence as follows:
     227-288: GEMIDRIEYN...IASTVGGIFA → PQGAFLKSCPEPQPNREEGALWSSGAPGPAGRDD
Isoform 3 (identifier: Q16623-3)

The sequence of this isoform differs from the canonical sequence as follows:
     227-288: GEMIDRIEYN...IASTVGGIFA → TMWRGPCLTPRRPSSTRARRAGRKS

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 288288Syntaxin-1A
PRO_0000210186

Regions

Topological domain1 – 265265Cytoplasmic Potential
Transmembrane266 – 28621Helical; Anchor for type IV membrane protein; Potential
Topological domain287 – 2882Extracellular Potential
Domain192 – 25463t-SNARE coiled-coil homology
Coiled coil68 – 10942 Potential

Amino acid modifications

Modified residue141Phosphoserine Ref.13
Modified residue1881Phosphoserine; by DAPK1 Ref.11

Natural variations

Alternative sequence227 – 28862GEMID…GGIFA → PQGAFLKSCPEPQPNREEGA LWSSGAPGPAGRDD in isoform 2.
VSP_006338
Alternative sequence227 – 28862GEMID…GGIFA → TMWRGPCLTPRRPSSTRARR AGRKS in isoform 3.
VSP_006339

Experimental info

Sequence conflict731E → V in AAA20940. Ref.8
Sequence conflict1401D → V in AAA20940. Ref.8

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 1, 1996. Version 1.
Checksum: 8AC787EFCE65ACA1

FASTA28833,023
        10         20         30         40         50         60 
MKDRTQELRT AKDSDDDDDV AVTVDRDRFM DEFFEQVEEI RGFIDKIAEN VEEVKRKHSA 

        70         80         90        100        110        120 
ILASPNPDEK TKEELEELMS DIKKTANKVR SKLKSIEQSI EQEEGLNRSS ADLRIRKTQH 

       130        140        150        160        170        180 
STLSRKFVEV MSEYNATQSD YRERCKGRIQ RQLEITGRTT TSEELEDMLE SGNPAIFASG 

       190        200        210        220        230        240 
IIMDSSISKQ ALSEIETRHS EIIKLENSIR ELHDMFMDMA MLVESQGEMI DRIEYNVEHA 

       250        260        270        280 
VDYVERAVSD TKKAVKYQSK ARRKKIMIII CCVILGIVIA STVGGIFA 

« Hide

Isoform 2 (1C) [UniParc].

Checksum: 546C1582FE83499E
Show »

FASTA26029,632
Isoform 3 [UniParc].

Checksum: C885D46384137E0B
Show »

FASTA25128,995

References

« Hide 'large scale' references
[1]"Cloning and sequence analysis of a cDNA encoding human syntaxin 1A, a polypeptide essential for exocytosis."
Zhang R.-D., Maksymowych A.B., Simpson L.L.
Gene 159:293-294(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Brain.
[2]"Hemizygous deletion of the syntaxin 1A gene in individuals with Williams syndrome."
Osborne L.R., Soder S., Shi X.-M., Pober B., Costa T., Scherer S.W., Tsui L.-C.
Am. J. Hum. Genet. 61:449-452(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS 1 AND 2).
[3]"Refinement of the genomic structure of STX1A and mutation analysis in nondeletion Williams syndrome patients."
Wu Y.-Q., Bejjani B.A., Tsui L.-C., Mandel A., Osborne L.R., Shaffer L.G.
Am. J. Med. Genet. 109:121-124(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS 1 AND 2), SEQUENCE REVISION TO 144.
[4]"Novel isoform of syntaxin 1 is expressed in mammalian cells."
Jagadish M.N., Tellam J.T., Macaulay S.L., Gough K.H., James D.E., Ward C.W.
Biochem. J. 321:151-156(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
Tissue: Adipose tissue.
[5]"Mapping of the human HPC-1/syntaxin 1A gene (STX1A) to chromosome 7 band q11.2."
Nakayama T., Fujiwara T., Miyazawa A., Asakawa S., Shimizu N., Shimizu Y., Mikoshiba K., Akagawa K.
Genomics 42:173-176(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[6]"The DNA sequence of human chromosome 7."
Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L. expand/collapse author list , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3).
Tissue: Brain and Lung.
[8]"Human syntaxin is homologous with rat syntaxin A and digested by BoNT C."
Zhang R.-D., Simpson L.
Submitted (SEP-1994) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 15-288 (ISOFORM 1).
Tissue: Brain.
[9]"Expression analysis of the human HPC-1/syntaxin 1A, a gene deleted in Williams syndrome."
Botta A., Calza L., Giardino L., Potenza S., Novelli G., Dallapiccola B.
Genomics 62:525-528(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: TISSUE SPECIFICITY.
[10]"Vesicle-associated membrane protein 3 (VAMP-3) and VAMP-8 are present in human platelets and are required for granule secretion."
Polgar J., Chung S.H., Reed G.L.
Blood 100:1081-1083(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION IN A COMPLEX WITH VAMP8 AND SNAP23.
[11]"Ca2+-dependent phosphorylation of syntaxin-1A by the death-associated protein (DAP) kinase regulates its interaction with Munc18."
Tian J.H., Das S., Sheng Z.H.
J. Biol. Chem. 278:26265-26274(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION AT SER-188, INTERACTION WITH DAPK1 AND STXBP1.
[12]"Syntabulin is a microtubule-associated protein implicated in syntaxin transport in neurons."
Su Q., Cai Q., Gerwin C., Smith C.L., Sheng Z.-H.
Nat. Cell Biol. 6:941-953(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH SYBU.
[13]"Phosphoproteomic analysis of synaptosomes from human cerebral cortex."
DeGiorgis J.A., Jaffe H., Moreira J.E., Carlotti C.G. Jr., Leite J.P., Pant H.C., Dosemeci A.
J. Proteome Res. 4:306-315(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-14, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Brain cortex.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
L37792 mRNA. Translation: AAA53519.1.
U87315 expand/collapse EMBL AC list , AF297001, AF297002, U87310, AF297003, U87314 Genomic DNA. Translation: AAK54507.2.
U87315 expand/collapse EMBL AC list , AF297001, AF297002, U87310, AF297003, U87314 Genomic DNA. Translation: AAB65500.2.
D37932 mRNA. Translation: BAA07151.1.
BC000444 mRNA. No translation available.
AC073846 Genomic DNA. Translation: AAS07470.1.
BC003011 mRNA. Translation: AAH03011.1.
BC064644 mRNA. Translation: AAH64644.1.
U12918 mRNA. Translation: AAA20940.1. Different initiation.
RefSeqNP_001159375.1. NM_001165903.1.
NP_004594.1. NM_004603.3.
UniGeneHs.647024.

3D structure databases

ProteinModelPortalQ16623.
SMRQ16623. Positions 27-286.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid112676. 44 interactions.
DIPDIP-390N.
IntActQ16623. 6 interactions.
MINTMINT-255942.
STRING9606.ENSP00000222812.

Protein family/group databases

TCDB1.F.1.1.1. the synaptosomal vesicle fusion pore (svf-pore) family.

PTM databases

PhosphoSiteQ16623.

Polymorphism databases

DMDM2501084.

Proteomic databases

PaxDbQ16623.
PRIDEQ16623.

Protocols and materials databases

DNASU6804.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000222812; ENSP00000222812; ENSG00000106089. [Q16623-1]
ENST00000395156; ENSP00000378585; ENSG00000106089. [Q16623-3]
ENST00000572494; ENSP00000459531; ENSG00000263024. [Q16623-1]
ENST00000574942; ENSP00000459444; ENSG00000263024. [Q16623-3]
GeneID6804.
KEGGhsa:6804.
UCSCuc003tyx.3. human. [Q16623-1]
uc003tyy.3. human. [Q16623-3]

Organism-specific databases

CTD6804.
GeneCardsGC07M073113.
HGNCHGNC:11433. STX1A.
HPACAB008372.
MIM186590. gene.
neXtProtNX_Q16623.
Orphanet586. Cystic fibrosis.
PharmGKBPA36233.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5074.
HOGENOMHOG000286023.
HOVERGENHBG000497.
InParanoidQ16623.
KOK04560.
OMAMEMNIEY.
PhylomeDBQ16623.
TreeFamTF313763.

Enzyme and pathway databases

ReactomeREACT_111217. Metabolism.
REACT_116125. Disease.
REACT_13685. Neuronal System.
REACT_17015. Metabolism of proteins.

Gene expression databases

ArrayExpressQ16623.
BgeeQ16623.
CleanExHS_STX1A.
GenevestigatorQ16623.

Family and domain databases

InterProIPR028669. STX1A/1B.
IPR006012. Syntaxin/epimorphin_CS.
IPR006011. Syntaxin_N.
IPR010989. t-SNARE.
IPR000727. T_SNARE_dom.
[Graphical view]
PANTHERPTHR19957:SF33. PTHR19957:SF33. 1 hit.
PfamPF05739. SNARE. 1 hit.
PF00804. Syntaxin. 1 hit.
[Graphical view]
SMARTSM00503. SynN. 1 hit.
SM00397. t_SNARE. 1 hit.
[Graphical view]
SUPFAMSSF47661. SSF47661. 1 hit.
PROSITEPS00914. SYNTAXIN. 1 hit.
PS50192. T_SNARE. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiSTX1A.
GenomeRNAi6804.
NextBio26565.
PROQ16623.
SOURCESearch...

Entry information

Entry nameSTX1A_HUMAN
AccessionPrimary (citable) accession number: Q16623
Secondary accession number(s): O15447 expand/collapse secondary AC list , O15448, Q12936, Q75MD9, Q9BPZ6
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 1, 1996
Last modified: April 16, 2014
This is version 143 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 7

Human chromosome 7: entries, gene names and cross-references to MIM