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UniProtKB - P61764 (STXB1_HUMAN)

Entry version 167 (07 Apr 2021)
Sequence version 1 (07 Jun 2004)
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Protein

Syntaxin-binding protein 1

Gene

STXBP1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Participates in the regulation of synaptic vesicle docking and fusion through interaction with GTP-binding proteins (By similarity). Essential for neurotransmission and binds syntaxin, a component of the synaptic vesicle fusion machinery probably in a 1:1 ratio. Can interact with syntaxins 1, 2, and 3 but not syntaxin 4. May play a role in determining the specificity of intracellular fusion reactions.By similarity

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processProtein transport, Transport

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P61764

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-181429, Serotonin Neurotransmitter Release Cycle [P61764-1]
R-HSA-181430, Norepinephrine Neurotransmitter Release Cycle [P61764-1]
R-HSA-210500, Glutamate Neurotransmitter Release Cycle [P61764-1]
R-HSA-212676, Dopamine Neurotransmitter Release Cycle [P61764-1]
R-HSA-264642, Acetylcholine Neurotransmitter Release Cycle [P61764-1]
R-HSA-422356, Regulation of insulin secretion
R-HSA-6794361, Neurexins and neuroligins
R-HSA-888590, GABA synthesis, release, reuptake and degradation [P61764-1]

SIGNOR Signaling Network Open Resource

More...SIGNORi		P61764

Protein family/group databases

Transport Classification Database

More...TCDBi		1.F.1.1.3, the synaptosomal vesicle fusion pore (svf-pore) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Syntaxin-binding protein 1
Alternative name(s):
MUNC18-1
N-Sec1
Protein unc-18 homolog 1
Short name:
Unc18-1
Protein unc-18 homolog A
Short name:
Unc-18A
p67
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:STXBP1
Synonyms:UNC18A
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 9

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:11444, STXBP1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		602926, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P61764

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000136854.17

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Cytoplasm, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Developmental and epileptic encephalopathy 4 (DEE4)11 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA severe form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. Affected individuals have neonatal or infantile onset of seizures, profound mental retardation, and MRI evidence of brain hypomyelination.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_07863142S → F in DEE4. 1 Publication1
Natural variantiVAR_04620584V → D in DEE4; may alter protein structure. 1 PublicationCorresponds to variant dbSNP:rs121918320EnsemblClinVar.1
Natural variantiVAR_078757122 – 594Missing in DEE4. 1 PublicationAdd BLAST473
Natural variantiVAR_046206180C → Y in DEE4; reduced thermostability; decreased binding to STX1A. 1 PublicationCorresponds to variant dbSNP:rs121918318EnsemblClinVar.1
Natural variantiVAR_073149183L → R in DEE4. 1 Publication1
Natural variantiVAR_078633190R → W in DEE4. 1 PublicationCorresponds to variant dbSNP:rs796053355Ensembl.1
Natural variantiVAR_073150251A → T in DEE4. 1 Publication1
Natural variantiVAR_078758281L → P in DEE4. 1 Publication1
Natural variantiVAR_071814283E → K in DEE4. 1 PublicationCorresponds to variant dbSNP:rs587777310EnsemblClinVar.1
Natural variantiVAR_071815285D → Y in DEE4. 1 Publication1
Natural variantiVAR_078759292R → H in DEE4. 1 PublicationCorresponds to variant dbSNP:rs796053361Ensembl.1
Natural variantiVAR_078634354C → R in DEE4. 1 PublicationCorresponds to variant dbSNP:rs886041337EnsemblClinVar.1
Natural variantiVAR_078218406R → C in DEE4. 1 PublicationCorresponds to variant dbSNP:rs796053367EnsemblClinVar.1
Natural variantiVAR_073151406R → H in DEE4. 2 PublicationsCorresponds to variant dbSNP:rs886041246EnsemblClinVar.1
Natural variantiVAR_046207443M → R in DEE4; may alter protein structure. 1 PublicationCorresponds to variant dbSNP:rs121918319EnsemblClinVar.1
Natural variantiVAR_071816445H → P in DEE4. 1 Publication1
Natural variantiVAR_073153480P → L in DEE4. 1 PublicationCorresponds to variant dbSNP:rs796053368EnsemblClinVar.1
Natural variantiVAR_046208544G → D in DEE4; may alter protein structure. 1 PublicationCorresponds to variant dbSNP:rs121918317EnsemblClinVar.1
Natural variantiVAR_073154574T → P in DEE4. 1 Publication1

Keywords - Diseasei

Disease variant, Epilepsy, Mental retardation

Organism-specific databases

DisGeNET

More...DisGeNETi		6812

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		STXBP1

MalaCards human disease database

More...MalaCardsi		STXBP1
MIMi612164, phenotype

Open Targets

More...OpenTargetsi		ENSG00000136854

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		495818, 9q33.3q34.11 microdeletion syndrome
3095, Atypical Rett syndrome
178469, Autosomal dominant non-syndromic intellectual disability
33069, Dravet syndrome
1934, Early infantile epileptic encephalopathy
442835, Undetermined early-onset epileptic encephalopathy
3451, West syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA36241

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P61764, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		STXBP1

Domain mapping of disease mutations (DMDM)

More...DMDMi		50403646

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002062771 – 594Syntaxin-binding protein 1Add BLAST594

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei476PhosphoserineBy similarity1
Modified residuei509PhosphoserineBy similarity1
Modified residuei511PhosphoserineBy similarity1
Modified residuei516PhosphoserineBy similarity1
Modified residuei593PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		P61764

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P61764

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P61764

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		P61764

PeptideAtlas

More...PeptideAtlasi		P61764

PRoteomics IDEntifications database

More...PRIDEi		P61764

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		57331
57332 [P61764-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P61764

MetOSite database of methionine sulfoxide sites

More...MetOSitei		P61764

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		P61764

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Brain and spinal cord. Highly enriched in axons.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000136854, Expressed in primary visual cortex and 236 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P61764, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P61764, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000136854, Tissue enriched (brain)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with SYTL4 (By similarity).

Interacts with STX1A (PubMed:12730201).

Interacts with alpha-synuclein/SNCA; this interaction controls SNCA self-replicating aggregation (PubMed:27597756).

Interacts with RAB3A; this interaction promotes RAB3A dissociation from the vesicle membrane (By similarity).

Interacts with CABP5 (By similarity).

By similarity2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		112681, 92 interactors

Protein interaction database and analysis system

More...IntActi		P61764, 73 interactors

Molecular INTeraction database

More...MINTi		P61764

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000362399

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P61764, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		P61764

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the STXBP/unc-18/SEC1 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1300, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000155127

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_009210_2_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P61764

Identification of Orthologs from Complete Genome Data

More...OMAi		FYPRESH

Database of Orthologous Groups

More...OrthoDBi		725424at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P61764

TreeFam database of animal gene trees

More...TreeFami		TF313242

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.40.50.1910, 1 hit
3.40.50.2060, 1 hit
3.90.830.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR043154, Sec-1-like_dom1
IPR027482, Sec-1-like_dom2
IPR043127, Sec-1-like_dom3a
IPR001619, Sec1-like
IPR036045, Sec1-like_sf

The PANTHER Classification System

More...PANTHERi		PTHR11679, PTHR11679, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00995, Sec1, 1 hit

PIRSF; a whole-protein classification database

More...PIRSFi		PIRSF005715, VPS45_Sec1, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF56815, SSF56815, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 15 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P61764-1) [UniParc]FASTAAdd to basket
Also known as: A

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAPIGLKAVV GEKIMHDVIK KVKKKGEWKV LVVDQLSMRM LSSCCKMTDI 
        60         70         80         90        100
MTEGITIVED INKRREPLPS LEAVYLITPS EKSVHSLISD FKDPPTAKYR 
       110        120        130        140        150
AAHVFFTDSC PDALFNELVK SRAAKVIKTL TEINIAFLPY ESQVYSLDSA 
       160        170        180        190        200
DSFQSFYSPH KAQMKNPILE RLAEQIATLC ATLKEYPAVR YRGEYKDNAL 
       210        220        230        240        250
LAQLIQDKLD AYKADDPTMG EGPDKARSQL LILDRGFDPS SPVLHELTFQ 
       260        270        280        290        300
AMSYDLLPIE NDVYKYETSG IGEARVKEVL LDEDDDLWIA LRHKHIAEVS 
       310        320        330        340        350
QEVTRSLKDF SSSKRMNTGE KTTMRDLSQM LKKMPQYQKE LSKYSTHLHL 
       360        370        380        390        400
AEDCMKHYQG TVDKLCRVEQ DLAMGTDAEG EKIKDPMRAI VPILLDANVS 
       410        420        430        440        450
TYDKIRIILL YIFLKNGITE ENLNKLIQHA QIPPEDSEII TNMAHLGVPI 
       460        470        480        490        500
VTDSTLRRRS KPERKERISE QTYQLSRWTP IIKDIMEDTI EDKLDTKHYP 
       510        520        530        540        550
YISTRSSASF STTAVSARYG HWHKNKAPGE YRSGPRLIIF ILGGVSLNEM 
       560        570        580        590 
RCAYEVTQAN GKWEVLIGST HILTPQKLLD TLKKLNKTDE EISS
Length:594
Mass (Da):67,569
Last modified:June 7, 2004 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i2DD0715F875CE0F3
GO
Isoform 2 (identifier: P61764-2) [UniParc] [UniParc]FASTAAdd to basket
Also known as: BE, HUNC18b

The sequence of this isoform differs from the canonical sequence as follows:
     576-594: QKLLDTLKKLNKTDEEISS → TKFLMDLRHPDFRESSRVSFEDQAPTME

Show »
Length:603
Mass (Da):68,736
Checksum:i73D8337768259493
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 15 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0D9SG72A0A0D9SG72_HUMAN
Syntaxin-binding protein 1
STXBP1
580Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GTP9A0A1B0GTP9_HUMAN
Syntaxin-binding protein 1
STXBP1
589Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GVQ5A0A1B0GVQ5_HUMAN
Syntaxin-binding protein 1
STXBP1
577Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GWF2A0A1B0GWF2_HUMAN
Syntaxin-binding protein 1
STXBP1
574Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0D9SEP9A0A0D9SEP9_HUMAN
Syntaxin-binding protein 1
STXBP1
100Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0D9SEH5A0A0D9SEH5_HUMAN
Syntaxin-binding protein 1
STXBP1
102Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0D9SFQ7A0A0D9SFQ7_HUMAN
Syntaxin-binding protein 1
STXBP1
147Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0D9SFW6A0A0D9SFW6_HUMAN
Syntaxin-binding protein 1
STXBP1
149Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y5D4A0A2R8Y5D4_HUMAN
Syntaxin-binding protein 1
STXBP1
580Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GW76A0A1B0GW76_HUMAN
Syntaxin-binding protein 1
STXBP1
360Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
There are more potential isoformsShow all

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07863142S → F in DEE4. 1 Publication1
Natural variantiVAR_07863280S → P Probable disease-associated variant found in a patient with epileptic encephalopathy. 1 Publication1
Natural variantiVAR_04620584V → D in DEE4; may alter protein structure. 1 PublicationCorresponds to variant dbSNP:rs121918320EnsemblClinVar.1
Natural variantiVAR_07314884V → I No effect on subcellular location. 1 PublicationCorresponds to variant dbSNP:rs34830702EnsemblClinVar.1
Natural variantiVAR_078757122 – 594Missing in DEE4. 1 PublicationAdd BLAST473
Natural variantiVAR_046206180C → Y in DEE4; reduced thermostability; decreased binding to STX1A. 1 PublicationCorresponds to variant dbSNP:rs121918318EnsemblClinVar.1
Natural variantiVAR_073149183L → R in DEE4. 1 Publication1
Natural variantiVAR_078633190R → W in DEE4. 1 PublicationCorresponds to variant dbSNP:rs796053355Ensembl.1
Natural variantiVAR_073150251A → T in DEE4. 1 Publication1
Natural variantiVAR_078758281L → P in DEE4. 1 Publication1
Natural variantiVAR_071814283E → K in DEE4. 1 PublicationCorresponds to variant dbSNP:rs587777310EnsemblClinVar.1
Natural variantiVAR_071815285D → Y in DEE4. 1 Publication1
Natural variantiVAR_078759292R → H in DEE4. 1 PublicationCorresponds to variant dbSNP:rs796053361Ensembl.1
Natural variantiVAR_078634354C → R in DEE4. 1 PublicationCorresponds to variant dbSNP:rs886041337EnsemblClinVar.1
Natural variantiVAR_078218406R → C in DEE4. 1 PublicationCorresponds to variant dbSNP:rs796053367EnsemblClinVar.1
Natural variantiVAR_073151406R → H in DEE4. 2 PublicationsCorresponds to variant dbSNP:rs886041246EnsemblClinVar.1
Natural variantiVAR_073152431Q → L Variant of uncertain significance; expressed at low levels compared with wild-type; no effect on subcellular location. 1 Publication1
Natural variantiVAR_046207443M → R in DEE4; may alter protein structure. 1 PublicationCorresponds to variant dbSNP:rs121918319EnsemblClinVar.1
Natural variantiVAR_071816445H → P in DEE4. 1 Publication1
Natural variantiVAR_073153480P → L in DEE4. 1 PublicationCorresponds to variant dbSNP:rs796053368EnsemblClinVar.1
Natural variantiVAR_078635544G → C Found in a patient with Lennox-Gastaut syndrome; unknown pathological significance. 1 Publication1
Natural variantiVAR_046208544G → D in DEE4; may alter protein structure. 1 PublicationCorresponds to variant dbSNP:rs121918317EnsemblClinVar.1
Natural variantiVAR_078636570T → A Probable disease-associated variant found in a patient with epileptic encephalopathy. 1 Publication1
Natural variantiVAR_073154574T → P in DEE4. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_006713576 – 594QKLLD…EEISS → TKFLMDLRHPDFRESSRVSF EDQAPTME in isoform 2. 1 PublicationAdd BLAST19

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
D63851 mRNA Translation: BAA19483.1
AF004562 mRNA Translation: AAC39688.1
AF004563 mRNA Translation: AAC39689.1
Y12723 mRNA Translation: CAA73255.1
AL162426 Genomic DNA No translation available.
CH471090 Genomic DNA Translation: EAW87679.1
CH471090 Genomic DNA Translation: EAW87681.1
BC015749 mRNA Translation: AAH15749.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS35146.1
CCDS6874.1 [P61764-2]

NCBI Reference Sequences

More...RefSeqi		NP_001027392.1, NM_001032221.3 [P61764-1]
NP_003156.1, NM_003165.3 [P61764-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000373299; ENSP00000362396; ENSG00000136854 [P61764-1]
ENST00000373302; ENSP00000362399; ENSG00000136854 [P61764-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		6812

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:6812

UCSC genome browser

More...UCSCi		uc004brk.2, human
uc004brl.3, human

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D63851 mRNA Translation: BAA19483.1
AF004562 mRNA Translation: AAC39688.1
AF004563 mRNA Translation: AAC39689.1
Y12723 mRNA Translation: CAA73255.1
AL162426 Genomic DNA No translation available.
CH471090 Genomic DNA Translation: EAW87679.1
CH471090 Genomic DNA Translation: EAW87681.1
BC015749 mRNA Translation: AAH15749.1
CCDSiCCDS35146.1
CCDS6874.1 [P61764-2]
RefSeqiNP_001027392.1, NM_001032221.3 [P61764-1]
NP_003156.1, NM_003165.3 [P61764-2]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
6L03X-ray2.08F141-149[»]
SMRiP61764
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi112681, 92 interactors
IntActiP61764, 73 interactors
MINTiP61764
STRINGi9606.ENSP00000362399

Protein family/group databases

TCDBi1.F.1.1.3, the synaptosomal vesicle fusion pore (svf-pore) family

PTM databases

iPTMnetiP61764
MetOSiteiP61764
PhosphoSitePlusiP61764

Genetic variation databases

BioMutaiSTXBP1
DMDMi50403646

Proteomic databases

EPDiP61764
jPOSTiP61764
MassIVEiP61764
PaxDbiP61764
PeptideAtlasiP61764
PRIDEiP61764
ProteomicsDBi57331
57332 [P61764-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		2191, 495 antibodies

The DNASU plasmid repository

More...DNASUi		6812

Genome annotation databases

EnsembliENST00000373299; ENSP00000362396; ENSG00000136854 [P61764-1]
ENST00000373302; ENSP00000362399; ENSG00000136854 [P61764-2]
GeneIDi6812
KEGGihsa:6812
UCSCiuc004brk.2, human
uc004brl.3, human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		6812
DisGeNETi6812

GeneCards: human genes, protein and diseases

More...GeneCardsi		STXBP1
GeneReviewsiSTXBP1
HGNCiHGNC:11444, STXBP1
HPAiENSG00000136854, Tissue enriched (brain)
MalaCardsiSTXBP1
MIMi602926, gene
612164, phenotype
neXtProtiNX_P61764
OpenTargetsiENSG00000136854
Orphaneti495818, 9q33.3q34.11 microdeletion syndrome
3095, Atypical Rett syndrome
178469, Autosomal dominant non-syndromic intellectual disability
33069, Dravet syndrome
1934, Early infantile epileptic encephalopathy
442835, Undetermined early-onset epileptic encephalopathy
3451, West syndrome
PharmGKBiPA36241
VEuPathDBiHostDB:ENSG00000136854.17

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1300, Eukaryota
GeneTreeiENSGT00940000155127
HOGENOMiCLU_009210_2_0_1
InParanoidiP61764
OMAiFYPRESH
OrthoDBi725424at2759
PhylomeDBiP61764
TreeFamiTF313242

Enzyme and pathway databases

PathwayCommonsiP61764
ReactomeiR-HSA-181429, Serotonin Neurotransmitter Release Cycle [P61764-1]
R-HSA-181430, Norepinephrine Neurotransmitter Release Cycle [P61764-1]
R-HSA-210500, Glutamate Neurotransmitter Release Cycle [P61764-1]
R-HSA-212676, Dopamine Neurotransmitter Release Cycle [P61764-1]
R-HSA-264642, Acetylcholine Neurotransmitter Release Cycle [P61764-1]
R-HSA-422356, Regulation of insulin secretion
R-HSA-6794361, Neurexins and neuroligins
R-HSA-888590, GABA synthesis, release, reuptake and degradation [P61764-1]
SIGNORiP61764

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		6812, 42 hits in 994 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		STXBP1, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		STXBP1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		6812
PharosiP61764, Tbio

Protein Ontology

More...PROi		PR:P61764
RNActiP61764, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000136854, Expressed in primary visual cortex and 236 other tissues
ExpressionAtlasiP61764, baseline and differential
GenevisibleiP61764, HS

Family and domain databases

Gene3Di3.40.50.1910, 1 hit
3.40.50.2060, 1 hit
3.90.830.10, 1 hit
InterProiView protein in InterPro
IPR043154, Sec-1-like_dom1
IPR027482, Sec-1-like_dom2
IPR043127, Sec-1-like_dom3a
IPR001619, Sec1-like
IPR036045, Sec1-like_sf
PANTHERiPTHR11679, PTHR11679, 1 hit
PfamiView protein in Pfam
PF00995, Sec1, 1 hit
PIRSFiPIRSF005715, VPS45_Sec1, 1 hit
SUPFAMiSSF56815, SSF56815, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiSTXB1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P61764
Secondary accession number(s): B1AM97
, Q28208, Q62759, Q64320, Q68CM6, Q96TG8
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 7, 2004
Last sequence update: June 7, 2004
Last modified: April 7, 2021
This is version 167 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families
UniProt is an ELIXIR core data resource
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