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Protein

Syntaxin-1B

Gene

STX1B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Potentially involved in docking of synaptic vesicles at presynaptic active zones. May mediate Ca2+-regulation of exocytosis acrosomal reaction in sperm (By similarity).By similarity

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Neurotransmitter transport, Transport

Enzyme and pathway databases

BioCyciZFISH:ENSG00000099365-MONOMER.
ReactomeiR-HSA-5250971. Toxicity of botulinum toxin type C (BoNT/C).
R-HSA-5682910. LGI-ADAM interactions.

Names & Taxonomyi

Protein namesi
Recommended name:
Syntaxin-1B
Alternative name(s):
Syntaxin-1B1
Syntaxin-1B2
Gene namesi
Name:STX1B
Synonyms:STX1B1, STX1B2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:18539. STX1B.

Subcellular locationi

Isoform 2 :

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 264CytoplasmicSequence analysisAdd BLAST264
Transmembranei265 – 288Helical; Anchor for type IV membrane proteinSequence analysisAdd BLAST24

GO - Cellular componenti

  • centrosome Source: ParkinsonsUK-UCL
  • cytoplasm Source: ParkinsonsUK-UCL
  • cytosol Source: Reactome
  • integral component of membrane Source: GO_Central
  • membrane Source: ParkinsonsUK-UCL
  • microtubule organizing center Source: UniProtKB-SubCell
  • nuclear lamina Source: ParkinsonsUK-UCL
  • nucleoplasm Source: ParkinsonsUK-UCL
  • nucleus Source: ParkinsonsUK-UCL
  • plasma membrane Source: ParkinsonsUK-UCL
  • SNARE complex Source: GO_Central
  • spindle Source: UniProtKB-SubCell
  • synaptic vesicle Source: GO_Central
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Membrane, Nucleus

Pathology & Biotechi

Involvement in diseasei

Generalized epilepsy with febrile seizures plus 9 (GEFSP9)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant neurologic disorder characterized by febrile and/or afebrile seizures manifesting in early childhood. Seizure are variable and include generalized tonic-clonic, atonic, myoclonic, complex partial, and absence types. Most patients have remission of seizures later in childhood with no residual neurologic deficits. Rarely, patients may show mild developmental delay or mild intellectual disabilities.
See also OMIM:616172
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_072675216V → E in GEFSP9; loss of function mutation. 1 PublicationCorresponds to variant rs724159974dbSNPEnsembl.1
Natural variantiVAR_072676226G → R in GEFSP9. 1 PublicationCorresponds to variant rs727502806dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNETi112755.
MalaCardsiSTX1B.
MIMi616172. phenotype.
OpenTargetsiENSG00000099365.
PharmGKBiPA38345.

Polymorphism and mutation databases

BioMutaiSTX1B.
DMDMi47117086.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002101921 – 288Syntaxin-1BAdd BLAST288

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei10PhosphoserineBy similarity1
Modified residuei14PhosphoserineCombined sources1

Post-translational modificationi

Phosphorylated by CK2.By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiP61266.
PaxDbiP61266.
PeptideAtlasiP61266.
PRIDEiP61266.

PTM databases

iPTMnetiP61266.
PhosphoSitePlusiP61266.
SwissPalmiP61266.

Expressioni

Gene expression databases

BgeeiENSG00000099365.
CleanExiHS_STX1B.
ExpressionAtlasiP61266. baseline and differential.
GenevisibleiP61266. HS.

Interactioni

Subunit structurei

Interacts with OTOF. Interacts with SYT6 and SYT8; the interaction is Ca2+-dependent (By similarity).By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
NAPBQ9H1154EBI-9071709,EBI-3921185

GO - Molecular functioni

Protein-protein interaction databases

BioGridi125203. 12 interactors.
IntActiP61266. 12 interactors.
STRINGi9606.ENSP00000215095.

Structurei

3D structure databases

ProteinModelPortaliP61266.
SMRiP61266.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini191 – 253t-SNARE coiled-coil homologyPROSITE-ProRule annotationAdd BLAST63

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili29 – 104Sequence analysisAdd BLAST76

Sequence similaritiesi

Belongs to the syntaxin family.Curated
Contains 1 t-SNARE coiled-coil homology domain.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0810. Eukaryota.
COG5074. LUCA.
GeneTreeiENSGT00760000119200.
HOGENOMiHOG000286023.
HOVERGENiHBG000497.
InParanoidiP61266.
KOiK08486.
OMAiCLQAKDS.
OrthoDBiEOG091G0EUK.
PhylomeDBiP61266.
TreeFamiTF313763.

Family and domain databases

InterProiIPR028669. STX1A/1B.
IPR006012. Syntaxin/epimorphin_CS.
IPR006011. Syntaxin_N.
IPR010989. t-SNARE.
IPR000727. T_SNARE_dom.
[Graphical view]
PANTHERiPTHR19957:SF76. PTHR19957:SF76. 1 hit.
PfamiPF05739. SNARE. 1 hit.
PF00804. Syntaxin. 1 hit.
[Graphical view]
SMARTiSM00503. SynN. 1 hit.
SM00397. t_SNARE. 1 hit.
[Graphical view]
SUPFAMiSSF47661. SSF47661. 1 hit.
PROSITEiPS00914. SYNTAXIN. 1 hit.
PS50192. T_SNARE. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P61266-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MKDRTQELRS AKDSDDEEEV VHVDRDHFMD EFFEQVEEIR GCIEKLSEDV
60 70 80 90 100
EQVKKQHSAI LAAPNPDEKT KQELEDLTAD IKKTANKVRS KLKAIEQSIE
110 120 130 140 150
QEEGLNRSSA DLRIRKTQHS TLSRKFVEVM TEYNATQSKY RDRCKDRIQR
160 170 180 190 200
QLEITGRTTT NEELEDMLES GKLAIFTDDI KMDSQMTKQA LNEIETRHNE
210 220 230 240 250
IIKLETSIRE LHDMFVDMAM LVESQGEMID RIEYNVEHSV DYVERAVSDT
260 270 280
KKAVKYQSKA RRKKIMIIIC CVVLGVVLAS SIGGTLGL
Length:288
Mass (Da):33,245
Last modified:May 10, 2004 - v1
Checksum:i2733497E02978BEB
GO
Isoform 2 (identifier: P61266-2) [UniParc]FASTAAdd to basket
Also known as: STX1B-DeltaTMD

The sequence of this isoform differs from the canonical sequence as follows:
     263-288: KKIMIIICCVVLGVVLASSIGGTLGL → VSGAGGLGVGGGAQG

Note: The glycine-rich C-terminus serves as an unconventional nuclear localization signal.
Show »
Length:277
Mass (Da):31,787
Checksum:i09B0ECE52474510C
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti7 – 13ELRSAKD → VLRTRRN in BAA07152 (Ref. 2) Curated7
Sequence conflicti17E → K in BAA07152 (Ref. 2) Curated1
Sequence conflicti36V → E in BAA07152 (Ref. 2) Curated1
Sequence conflicti69K → R in BAA07152 (Ref. 2) Curated1
Sequence conflicti105 – 111LNRSSAD → STAPRPI in BAA07152 (Ref. 2) Curated7
Sequence conflicti174A → P in BAA07152 (Ref. 2) Curated1
Sequence conflicti266M → I in BAA07152 (Ref. 2) Curated1
Sequence conflicti284G → C in BAA07152 (Ref. 2) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_072675216V → E in GEFSP9; loss of function mutation. 1 PublicationCorresponds to variant rs724159974dbSNPEnsembl.1
Natural variantiVAR_072676226G → R in GEFSP9. 1 PublicationCorresponds to variant rs727502806dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_047681263 – 288KKIMI…GTLGL → VSGAGGLGVGGGAQG in isoform 2. 1 PublicationAdd BLAST26

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY995211 mRNA. Translation: AAY45889.1.
D37933 mRNA. Translation: BAA07152.1.
AY028792 mRNA. Translation: AAK27267.1.
AC135048 Genomic DNA. No translation available.
AC135050 Genomic DNA. No translation available.
BC062298 mRNA. Translation: AAH62298.1.
CCDSiCCDS10699.1. [P61266-1]
RefSeqiNP_443106.1. NM_052874.4. [P61266-1]
UniGeneiHs.542230.

Genome annotation databases

EnsembliENST00000215095; ENSP00000215095; ENSG00000099365. [P61266-1]
ENST00000565419; ENSP00000455899; ENSG00000099365. [P61266-2]
GeneIDi112755.
KEGGihsa:112755.
UCSCiuc010cad.3. human. [P61266-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY995211 mRNA. Translation: AAY45889.1.
D37933 mRNA. Translation: BAA07152.1.
AY028792 mRNA. Translation: AAK27267.1.
AC135048 Genomic DNA. No translation available.
AC135050 Genomic DNA. No translation available.
BC062298 mRNA. Translation: AAH62298.1.
CCDSiCCDS10699.1. [P61266-1]
RefSeqiNP_443106.1. NM_052874.4. [P61266-1]
UniGeneiHs.542230.

3D structure databases

ProteinModelPortaliP61266.
SMRiP61266.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125203. 12 interactors.
IntActiP61266. 12 interactors.
STRINGi9606.ENSP00000215095.

PTM databases

iPTMnetiP61266.
PhosphoSitePlusiP61266.
SwissPalmiP61266.

Polymorphism and mutation databases

BioMutaiSTX1B.
DMDMi47117086.

Proteomic databases

MaxQBiP61266.
PaxDbiP61266.
PeptideAtlasiP61266.
PRIDEiP61266.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000215095; ENSP00000215095; ENSG00000099365. [P61266-1]
ENST00000565419; ENSP00000455899; ENSG00000099365. [P61266-2]
GeneIDi112755.
KEGGihsa:112755.
UCSCiuc010cad.3. human. [P61266-1]

Organism-specific databases

CTDi112755.
DisGeNETi112755.
GeneCardsiSTX1B.
HGNCiHGNC:18539. STX1B.
MalaCardsiSTX1B.
MIMi601485. gene.
616172. phenotype.
neXtProtiNX_P61266.
OpenTargetsiENSG00000099365.
PharmGKBiPA38345.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0810. Eukaryota.
COG5074. LUCA.
GeneTreeiENSGT00760000119200.
HOGENOMiHOG000286023.
HOVERGENiHBG000497.
InParanoidiP61266.
KOiK08486.
OMAiCLQAKDS.
OrthoDBiEOG091G0EUK.
PhylomeDBiP61266.
TreeFamiTF313763.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000099365-MONOMER.
ReactomeiR-HSA-5250971. Toxicity of botulinum toxin type C (BoNT/C).
R-HSA-5682910. LGI-ADAM interactions.

Miscellaneous databases

ChiTaRSiSTX1B. human.
GeneWikiiSTX1B.
GenomeRNAii112755.
PROiP61266.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000099365.
CleanExiHS_STX1B.
ExpressionAtlasiP61266. baseline and differential.
GenevisibleiP61266. HS.

Family and domain databases

InterProiIPR028669. STX1A/1B.
IPR006012. Syntaxin/epimorphin_CS.
IPR006011. Syntaxin_N.
IPR010989. t-SNARE.
IPR000727. T_SNARE_dom.
[Graphical view]
PANTHERiPTHR19957:SF76. PTHR19957:SF76. 1 hit.
PfamiPF05739. SNARE. 1 hit.
PF00804. Syntaxin. 1 hit.
[Graphical view]
SMARTiSM00503. SynN. 1 hit.
SM00397. t_SNARE. 1 hit.
[Graphical view]
SUPFAMiSSF47661. SSF47661. 1 hit.
PROSITEiPS00914. SYNTAXIN. 1 hit.
PS50192. T_SNARE. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSTX1B_HUMAN
AccessioniPrimary (citable) accession number: P61266
Secondary accession number(s): Q15531, Q2VPS2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 10, 2004
Last sequence update: May 10, 2004
Last modified: November 30, 2016
This is version 114 of the entry and version 1 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.