STXBP1 syntaxin binding protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: STXBP1provided by HGNC
Official Full Name: syntaxin binding protein 1provided by HGNC
Primary source: HGNC:HGNC:11444
See related: Ensembl:ENSG00000136854 MIM:602926; AllianceGenome:HGNC:11444
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: P67; DEE4; NSEC1; UNC18; N-Sec1; RBSEC1; unc-18A; unc18-1; MUNC18-1
Summary: This gene encodes a syntaxin-binding protein. The encoded protein appears to play a role in release of neurotransmitters via regulation of syntaxin, a transmembrane attachment protein receptor. Mutations in this gene have been associated with infantile epileptic encephalopathy-4. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]
Expression: Biased expression in brain (RPKM 151.7), adrenal (RPKM 16.3) and 6 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q34.11

Exon count:: 25

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (127611912..127696029)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (139818871..139902984)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (130374191..130458308)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A De Novo Splicing Mutation of STXBP1 in Epileptic Encephalopathy Associated with Hypomyelinating Leukodystrophy.
Title: A De Novo Splicing Mutation of STXBP1 in Epileptic Encephalopathy Associated with Hypomyelinating Leukodystrophy.
Reduced Protein Stability of 11 Pathogenic Missense STXBP1/MUNC18-1 Variants and Improved Disease Prediction.
Title: Reduced Protein Stability of 11 Pathogenic Missense STXBP1/MUNC18-1 Variants and Improved Disease Prediction.
Reduced synaptic depression in human neurons carrying homozygous disease-causing STXBP1 variant L446F.
Title: Reduced synaptic depression in human neurons carrying homozygous disease-causing STXBP1 variant L446F.
Early life seizures and epileptic spasms in STXBP1-related disorders.
Title: Early life seizures and epileptic spasms in STXBP1-related disorders.
Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1.
Title: Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1.
The Sec1-Munc18 protein VPS33B forms a uniquely bidirectional complex with VPS16B.
Title: The Sec1-Munc18 protein VPS33B forms a uniquely bidirectional complex with VPS16B.
Genotype-phenotype correlations of STXBP1 pathogenic variants and the treatment choices for STXBP1-related disorders in China.
Title: Genotype-phenotype correlations of STXBP1 pathogenic variants and the treatment choices for STXBP1-related disorders in China.
Altered synaptic connectivity in an in vitro human model of STXBP1 encephalopathy.
Title: Altered synaptic connectivity in an in vitro human model of STXBP1 encephalopathy.
An Atypical, Staged Cell Death Pathway Induced by Depletion of SNARE-Proteins MUNC18-1 or Syntaxin-1.
Title: An Atypical, Staged Cell Death Pathway Induced by Depletion of SNARE-Proteins MUNC18-1 or Syntaxin-1.
Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood.
Title: Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood.

Submit: New GeneRIF Correction See all GeneRIFs (79)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Developmental and epileptic encephalopathy, 4 MedGen: C2677326 OMIM: 612164 GeneReviews: STXBP1 Encephalopathy with Epilepsy	Compare labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2013-06-20) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2013-06-20) ClinGen Genome Curation PagePubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of syntaxin binding protein 1 (STXBP1) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Nef	nef	Genome-wide shRNA screening identifies STXBP1, which is required for HIV-1 Nef-induced downregulation of CD4 in HeLa CD4+ cells	PubMed
Tat	tat	HIV-1 Tat downregulates the expression of syntaxin binding protein 1 (STXBP1) in human primary T cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-17094 (e-PCR)
- UniSTS:72455

WI-4184 (e-PCR)
- UniSTS:59950

D9S1763 (e-PCR)
- UniSTS:154188

D9S1028E (e-PCR)
- UniSTS:55183

1986 (e-PCR)
- UniSTS:16806

STXBP1_V165 (e-PCR)
- UniSTS:281035

STXBP1_858.2 (e-PCR)
- UniSTS:281035

D9S1144 (e-PCR)
- UniSTS:54496

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables SNARE binding	ISS Inferred from Sequence or Structural Similarity more info
enables identical protein binding	ISS Inferred from Sequence or Structural Similarity more info
enables phospholipase binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific binding	IEA Inferred from Electronic Annotation more info
enables protein kinase binding	IEA Inferred from Electronic Annotation more info
enables syntaxin binding	IPI Inferred from Physical Interaction more info	PubMed
enables syntaxin-1 binding	IBA Inferred from Biological aspect of Ancestor more info
enables syntaxin-1 binding	IPI Inferred from Physical Interaction more info	PubMed
enables syntaxin-1 binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in SNARE complex assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in axon target recognition	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to type II interferon	IEA Inferred from Electronic Annotation more info
involved_in developmental process involved in reproduction	IEA Inferred from Electronic Annotation more info
involved_in intracellular protein transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in long-term synaptic depression	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of neuron apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of protein-containing complex assembly	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of synaptic transmission, GABAergic	ISS Inferred from Sequence or Structural Similarity more info
involved_in neuromuscular synaptic transmission	IEA Inferred from Electronic Annotation more info
involved_in neuron apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in platelet aggregation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in platelet degranulation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of calcium ion-dependent exocytosis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of glutamate secretion, neurotransmission	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of mast cell degranulation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of vesicle docking	IEA Inferred from Electronic Annotation more info
involved_in presynaptic dense core vesicle exocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein localization to plasma membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in protein stabilization	IEA Inferred from Electronic Annotation more info
involved_in regulation of SNARE complex assembly	TAS Traceable Author Statement more info	PubMed
involved_in regulation of acrosomal vesicle exocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of synaptic vesicle fusion to presynaptic active zone membrane	TAS Traceable Author Statement more info	PubMed
involved_in regulation of synaptic vesicle priming	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to estradiol	IEA Inferred from Electronic Annotation more info
involved_in synaptic vesicle maturation	ISS Inferred from Sequence or Structural Similarity more info
involved_in synaptic vesicle priming	IEA Inferred from Electronic Annotation more info
involved_in vesicle docking involved in exocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in vesicle docking involved in exocytosis	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in axon	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in extrinsic component of presynaptic membrane	IEA Inferred from Electronic Annotation more info
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in parallel fiber to Purkinje cell synapse	IEA Inferred from Electronic Annotation more info
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
located_in phagocytic vesicle	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in platelet alpha granule	IDA Inferred from Direct Assay more info	PubMed
located_in postsynapse	IEA Inferred from Electronic Annotation more info
located_in presynaptic active zone cytoplasmic component	IEA Inferred from Electronic Annotation more info
located_in presynaptic cytosol	IEA Inferred from Electronic Annotation more info
part_of protein-containing complex	ISS Inferred from Sequence or Structural Similarity more info
is_active_in secretory granule	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: syntaxin-binding protein 1

Names: neuronal SEC1; protein unc-18 homolog 1; protein unc-18 homolog A

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_016623.2 RefSeqGene

Range

5367..85789

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001032221.6 → NP_001027392.1 syntaxin-binding protein 1 isoform b

See identical proteins and their annotated locations for NP_001027392.1

Status: REVIEWED

Source sequence(s)

AL162426

Consensus CDS

CCDS35146.1

UniProtKB/Swiss-Prot

B1AM97, P61764, Q28208, Q62759, Q64320, Q68CM6, Q96TG8

UniProtKB/TrEMBL

B7Z1V5

Related

ENSP00000362396.2, ENST00000373299.5

Conserved Domains (1) summary

pfam00995
Location:29 → 575

Sec1; Sec1 family
NM_001374306.2 → NP_001361235.1 syntaxin-binding protein 1 isoform c

Status: REVIEWED

Source sequence(s)

AL162426

UniProtKB/TrEMBL

B7Z1V5

Conserved Domains (1) summary

pfam00995
Location:29 → 572

Sec1; Sec1 family
NM_001374307.2 → NP_001361236.1 syntaxin-binding protein 1 isoform d

Status: REVIEWED

Source sequence(s)

AL162426

Consensus CDS

CCDS94488.1

UniProtKB/TrEMBL

A0A1B0GTP9, B7Z2V7

Related

ENSP00000489791.1, ENST00000637521.2

Conserved Domains (1) summary

pfam00995
Location:15 → 565

Sec1; Sec1 family
NM_001374308.2 → NP_001361237.1 syntaxin-binding protein 1 isoform d

Status: REVIEWED

Source sequence(s)

AL162426

Consensus CDS

CCDS94488.1

UniProtKB/TrEMBL

A0A1B0GTP9, B7Z2V7

Related

ENSP00000498834.1, ENST00000650920.1

Conserved Domains (1) summary

pfam00995
Location:15 → 565

Sec1; Sec1 family
NM_001374309.2 → NP_001361238.1 syntaxin-binding protein 1 isoform e

Status: REVIEWED

Source sequence(s)

AL162426

Consensus CDS

CCDS94489.1

UniProtKB/TrEMBL

A0A0D9SEP9, A0A0D9SFQ7, A0A0D9SFW6, A0A0D9SG72, B7Z1V5

Related

ENSP00000487211.2, ENST00000626539.3

Conserved Domains (1) summary

pfam00995
Location:15 → 561

Sec1; Sec1 family
NM_001374310.2 → NP_001361239.1 syntaxin-binding protein 1 isoform e

Status: REVIEWED

Source sequence(s)

AL162426

Consensus CDS

CCDS94489.1

UniProtKB/TrEMBL

A0A0D9SEP9, A0A0D9SFQ7, A0A0D9SFW6, A0A0D9SG72, B7Z1V5

Related

ENSP00000490519.1, ENST00000637173.2

Conserved Domains (1) summary

pfam00995
Location:15 → 561

Sec1; Sec1 family
NM_001374311.2 → NP_001361240.1 syntaxin-binding protein 1 isoform e

Status: REVIEWED

Source sequence(s)

AL162426

Consensus CDS

CCDS94489.1

UniProtKB/TrEMBL

A0A0D9SEP9, A0A0D9SFQ7, A0A0D9SFW6, A0A0D9SG72, B7Z1V5

Related

ENSP00000515991.1, ENST00000704680.1

Conserved Domains (1) summary

pfam00995
Location:15 → 561

Sec1; Sec1 family
NM_001374312.2 → NP_001361241.1 syntaxin-binding protein 1 isoform e

Status: REVIEWED

Source sequence(s)

AL162426

Consensus CDS

CCDS94489.1

UniProtKB/TrEMBL

A0A0D9SEP9, A0A0D9SFQ7, A0A0D9SFW6, A0A0D9SG72, B7Z1V5

Conserved Domains (1) summary

pfam00995
Location:15 → 561

Sec1; Sec1 family
NM_001374313.2 → NP_001361242.1 syntaxin-binding protein 1 isoform f

Status: REVIEWED

Source sequence(s)

AL162426

Consensus CDS

CCDS94486.1

UniProtKB/TrEMBL

A0A1B0GVQ5, A0A2R8Y5D4, A0AAQ5BGW4

Related

ENSP00000490613.1, ENST00000637953.1

Conserved Domains (1) summary

pfam00995
Location:29 → 568

Sec1; Sec1 family
NM_001374314.1 → NP_001361243.1 syntaxin-binding protein 1 isoform g

Status: REVIEWED

Source sequence(s)

AL162426

Consensus CDS

CCDS94487.1

UniProtKB/TrEMBL

A0A1B0GWF2, A0A2R8Y5D4, A0AAQ5BGW4

Related

ENSP00000489762.1, ENST00000636962.2

Conserved Domains (1) summary

pfam00995
Location:29 → 567

Sec1; Sec1 family
NM_001374315.2 → NP_001361244.1 syntaxin-binding protein 1 isoform h

Status: REVIEWED

Source sequence(s)

AL162426

UniProtKB/TrEMBL

B7Z2V7

Conserved Domains (1) summary

pfam00995
Location:29 → 539

Sec1; Sec1 family
NM_003165.6 → NP_003156.1 syntaxin-binding protein 1 isoform a

See identical proteins and their annotated locations for NP_003156.1

Status: REVIEWED

Source sequence(s)

AL162426

Consensus CDS

CCDS6874.1

UniProtKB/TrEMBL

B7Z2V7

Related

ENSP00000362399.3, ENST00000373302.8

Conserved Domains (1) summary

pfam00995
Location:29 → 575

Sec1; Sec1 family