STX1B - syntaxin 1B Gene

Also Known as GEFSP9; STX1B1; STX1B2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 112755

About STX1B

Cytogenetic location: 16p11.2 Genomic coordinates (GRCh38): 16:30,989,256-31,010,638 (from NCBI)

This gene has 3 transcripts (splice variants), 197 orthologues, 12 paralogues and is associated with 3 phenotypes. Biased expression in brain (RPKM 32.7) and testis (RPKM 1.4).

Summary

The protein encoded by this gene belongs to a family of proteins thought to play a role in the exocytosis of synaptic vesicles. Vesicle exocytosis releases vesicular contents and is important to various cellular functions. For instance, the secretion of transmitters from neurons plays an important role in synaptic transmission. After exocytosis, the membrane and proteins from the vesicle are retrieved from the plasma membrane through the process of endocytosis. Mutations in this gene have been identified as one cause of fever-associated epilepsy syndromes. A possible link between this gene and Parkinson's disease has also been suggested. [provided by RefSeq, Jan 2015]

STX1B Products (1)

mRNA Protein Name
NM_052874.5 NP_443106.1 syntaxin-1B
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
Cellular Component GO Annotation Evidence References Source
located in centrosome IDA
IDA: Inferred from direct assay
18691641 GOA
located in cytoplasm IDA
IDA: Inferred from direct assay
18691641 GOA
located in nuclear lamina IDA
IDA: Inferred from direct assay
18691641 GOA
located in nucleoplasm IDA
IDA: Inferred from direct assay
18691641 GOA
located in nucleus IDA
IDA: Inferred from direct assay
18691641 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

STX1B Protein Structure

Syntaxin

Syntaxin: Syntaxin (28 - 130)

SNARE

SNARE: SNARE domain (197 - 258)

  • 0
  • 100
  • 200
  • 288 a.a.
Protein Preferred Names Protein Names

syntaxin-1B

  • syntaxin-1B1

STX1B Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
STX1B P61266 UBE2I Homo sapiens Q7KZS0 32296183
Intra
STX1B P61266 UBE2I Homo sapiens Q7KZS0 32296183
Intra
STX1B P61266 UBE2I Homo sapiens Q7KZS0 32296183
Intra
STX1B P61266 SNAP47 Homo sapiens Q5SQN1 32296183
Intra
STX1B P61266 ACBD5 Homo sapiens Q5T8D3-2 32296183
Intra
STX1B P61266 ACBD5 Homo sapiens Q5T8D3-2 32296183
Intra
STX1B P61266 ACBD5 Homo sapiens Q5T8D3-2 32296183
Intra
STX1B P61266 STX2 Homo sapiens P32856-2 32296183
Intra
STX1B P61266 STX2 Homo sapiens P32856-2 32296183
Intra
STX1B P61266 FAM81A Homo sapiens Q8TBF8 32296183
Intra
STX1B P61266 FAM81A Homo sapiens Q8TBF8 32296183
Intra
STX1B P61266 FAM81A Homo sapiens Q8TBF8 32296183
Intra
STX1B P61266 AQP6 Homo sapiens Q13520 32296183
Intra
STX1B P61266 AQP6 Homo sapiens Q13520 32296183
Intra
STX1B P61266 AQP6 Homo sapiens Q13520 32296183
Intra
STX1B P61266 GPR152 Homo sapiens Q8TDT2 32296183
Intra
STX1B P61266 GPR152 Homo sapiens Q8TDT2 32296183
Intra
STX1B P61266 GPR152 Homo sapiens Q8TDT2 32296183
Intra
STX1B P61266 GJA8 Homo sapiens P48165 32296183
Intra
STX1B P61266 GJA8 Homo sapiens P48165 32296183
Intra
STX1B P61266 TMEM167B Homo sapiens Q9NRX6 32296183
Intra
STX1B P61266 TMEM167B Homo sapiens Q9NRX6 32296183
Intra
STX1B P61266 TMEM167B Homo sapiens Q9NRX6 32296183
Intra
STX1B P61266 FAM209A Homo sapiens Q5JX71 32296183
Intra
STX1B P61266 FAM209A Homo sapiens Q5JX71 32296183
Intra
STX1B P61266 FAM209A Homo sapiens Q5JX71 32296183
Intra
STX1B P61266 KCNN4 Homo sapiens O15554 32296183
Intra
STX1B P61266 KCNN4 Homo sapiens O15554 32296183
Intra
STX1B P61266 ABHD16A Homo sapiens O95870 32296183
Intra
STX1B P61266 ABHD16A Homo sapiens O95870 32296183
Intra
STX1B P61266 TXLNA Homo sapiens P40222 32296183
Intra
STX1B P61266 TXLNA Homo sapiens P40222 32296183
Intra
STX1B P61266 EBP Homo sapiens Q15125 32296183
Intra
STX1B P61266 EBP Homo sapiens Q15125 32296183
Intra
STX1B P61266 EBP Homo sapiens Q15125 32296183
Intra
STX1B P61266 NAPB Homo sapiens Q9H115 32296183
Intra
STX1B P61266 NAPB Homo sapiens Q9H115 32296183
Intra
STX1B P61266 NAPB Homo sapiens Q9H115 32296183
Intra
STX1B P61266 SNAP29 Homo sapiens O95721 32296183
Intra
STX1B P61266 SNAP29 Homo sapiens O95721 32296183
Intra
STX1B P61266 VAMP2 Homo sapiens P63027 32296183
Intra
STX1B P61266 VAMP2 Homo sapiens P63027 38225382
Intra
STX1B P61266 MMGT1 Homo sapiens Q8N4V1 32296183
Intra
STX1B P61266 MMGT1 Homo sapiens Q8N4V1 32296183
Intra
STX1B P61266 MMGT1 Homo sapiens Q8N4V1 32296183
Intra
STX1B P61266 FAM161B Homo sapiens Q96MY7 32296183
Intra
STX1B P61266 FAM161B Homo sapiens Q96MY7 32296183
Intra
STX1B P61266 FAM161B Homo sapiens Q96MY7 32296183
Intra
STX1B P61266 FBXO28 Homo sapiens Q9NVF7 32296183
Intra
STX1B P61266 FBXO28 Homo sapiens Q9NVF7 32296183
Intra
STX1B P61266 FBXO28 Homo sapiens Q9NVF7 32296183
Intra
STX1B P61266 STX4 Homo sapiens Q12846 32296183
Intra
STX1B P61266 STX4 Homo sapiens Q12846 32296183
Intra
STX1B P61266 STX4 Homo sapiens Q12846 32296183
Intra
STX1B P61266 ERGIC3 Homo sapiens Q9Y282 32296183
Intra
STX1B P61266 ERGIC3 Homo sapiens Q9Y282 32296183
Intra
STX1B P61266 ERGIC3 Homo sapiens Q9Y282 32296183
Intra
STX1B P61266 FGA Homo sapiens P02671-2 32296183
Intra
STX1B P61266 FGA Homo sapiens P02671-2 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

STX1B Antibodies

Cat. No. Product Name Application Reactivity
HY-P82095 Syntaxin 1B Antibody (YA1840) WB, IP Human, Mouse, Rat

Related Diseases

Diseases Alias
Generalized Epilepsy With Febrile Seizures Plus, Type 9
  • GEFSP9

  • Gefs+9

  • Generalized Epilepsy With Febrile Seizures Plus 9

  • Gefs+, Type 9

  • Generalised Epilepsy With Febrile Seizures Plus 9

  • Generalised Epilepsy With Febrile Seizures Plus Type 9

  • Generalized Epilepsy With Febrile Seizures Plus Type 9

  • Gefs+ Type 9

  • Epilepsy, Generalized, With Febrile Seizures Plus, Type 9

Generalized Epilepsy With Febrile Seizures Plus
  • Gefs+

  • Genetic Epilepsy With Febrile Seizures Plus

  • Generalized Epilepsy With Febrile Seizures-Plus

  • Genetic Epilepsy With Febrile Seizures-Plus

  • Epilepsy, Generalized, With Febrile Seizures Plus

Intermittent Squint
  • Intermittent Heterotropia

  • Intermittent Tropia

Generalized Epilepsy With Febrile Seizures Plus, Type 8
  • GEFSP8

  • Gefs+8

  • Generalized Epilepsy With Febrile Seizures Plus 8

  • Gefs+, Type 8

  • Generalised Epilepsy With Febrile Seizures Plus 8

  • Generalised Epilepsy With Febrile Seizures Plus Type 8

  • Generalized Epilepsy With Febrile Seizures Plus Type 8

Epilepsy
  • Epilepsy Syndrome

  • Epileptic Syndrome

  • Epilepsies

  • Symptomatic Epilepsies

  • Post Traumatic Epilepsy

  • Traumatic Epilepsy

  • Traumatic Epileptic

  • Epilepsy Due To Hippocampal Sclerosis

  • Epilepsy With Ammon'S Horn Sclerosis

  • Epilepsy Due To Cortical Dysplasia

  • Epilepsy Due To Neuronal Migration Disorders

Generalized Epilepsy With Febrile Seizures Plus, Type 6
  • GEFSP6

  • Gefs+6

  • Generalized Epilepsy With Febrile Seizures Plus 6

  • Gefs+, Type 6

  • Generalised Epilepsy With Febrile Seizures Plus 6

  • Generalised Epilepsy With Febrile Seizures Plus Type 6

  • Generalized Epilepsy With Febrile Seizures Plus Type 6

Febrile Seizures, Familial, 7
  • FEB7

  • Febrile Convulsions, Familial, 7

  • Familial Febrile Seizures 7

  • Familial Febrile Convulsions 7

Febrile Seizures, Familial, 9
  • FEB9

  • Febrile Convulsions, Familial, 9

  • Familial Febrile Seizures 9

  • Familial Febrile Convulsions 9

Generalized Epilepsy With Febrile Seizures Plus, Type 4
  • GEFSP4

  • Gefs+4

  • Generalized Epilepsy With Febrile Seizures Plus 4

  • Gefs+, Type 4

  • Generalised Epilepsy With Febrile Seizures Plus 4

  • Generalised Epilepsy With Febrile Seizures Plus Type 4

  • Generalized Epilepsy With Febrile Seizures Plus Type 4

Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
  • MCCCHCM

Familial Febrile Seizures
  • Familial Febrile Convulsions

  • Feb

  • Febrile Seizures, Familial

Photosensitive Epilepsy
  • Pse

  • Photogenic Epilepsy

  • Photoparoxysmal Response

  • Reflex Epilepsy, Photosensitive

  • Photoparoxysmal Response 1

Epilepsy, Myoclonic Juvenile
  • Juvenile Myoclonic Epilepsy

  • Janz Syndrome

  • Jme

  • Myoclonic Epilepsy, Juvenile, Susceptibility To, 1

  • EJM

  • Myoclonic Epilepsy, Juvenile

  • Petit Mal, Impulsive

  • Myoclonic Epilepsy, Juvenile 1

  • Myoclonic Epilepsy, Juvenile, 1

  • Adolescent Myoclonic Epilepsy

  • Juvenile Myoclonus Epilepsy

  • Juvenile Myoclonic Epilepsy 1

  • EJM1

  • Petit Mal Impulsive

  • Susceptibility To Juvenile Myoclonic Epilepsy 1

  • Myoclonic Epilepsy Juvenile

  • Epilepsy, Myoclonic, Juvenile

  • Myoclonic Epilepsy Of Janz

  • Jme - [Juvenile Myoclonic Epilepsy]

Dravet Syndrome
  • Severe Myoclonic Epilepsy Of Infancy

  • Severe Myoclonic Epilepsy In Infancy

  • Smei

  • Epileptic Encephalopathy, Early Infantile, 6

  • DRVT

  • Developmental And Epileptic Encephalopathy 6a

  • Dee6a

  • Eiee6

  • Developmental And Epileptic Encephalopathy, 6

  • Dee6

  • Developmental And Epileptic Encephalopathy 6

  • Early Infantile Epileptic Encephalopathy 6

  • Myoclonic Epilepsy, Severe, Of Infancy

  • Sme

  • Severe Myoclonus Epilepsy Of Infancy

  • Borderline Smei

  • Smeb

  • Smeb-M

  • Smeb-O

  • Smeb-Sw

  • Smei-Borderland

  • Smei-Borderland More Than One Feature

  • Smei-Borderland-Myoclonic Seizures

  • Smei-Borderland-Spike Wave

  • Intractable Childhood Epilepsy With Generalized Tonic-Clonic Seizures

  • ICEGTC

  • Infantile Severe Myoclonic Epilepsy

  • Epilepsy, Intractable Childhood, With Generalized Tonic-Clonic Seizures

Early Myoclonic Encephalopathy
  • Myoclonic Epilepsy

  • Myoclonic Seizure

  • Epilepsies, Myoclonic

  • Epileptic Seizures - Myoclonic

  • Epileptic Seizures, Myoclonic

  • Myoclonia Epileptica

  • Myoclonic Seizure Disorder

  • Early Myoclonic Encephalopathy With Suppression-Bursts

Childhood Absence Epilepsy
  • Pyknolepsy

  • Petit Mal Epilepsy

  • Absence Seizures

  • Absence Seizure

  • Petit Mal Seizure

  • Absence Epilepsy, Childhood

  • Pykno-Epilepsy

  • Epilepsy, Absence

  • Absence Epilepsy

  • Pycnolepsy

Developmental And Epileptic Encephalopathy
  • Encephalopathy, Developmental And Epileptic

West Syndrome
  • Infantile Spasms

  • Infantile Spasms Syndrome

  • Infantile Spasm

  • X-Linked Infantile Spasm Syndrome

  • X-Linked Infantile Spasms

  • Epileptic Encephalopathy, Early Infantile, 1

  • Is

  • Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg

  • West'S Syndrome

  • Spasms, Infantile

  • Is -[Infantile Spasm]

  • Salaam Spasm

  • Salaam Tic

Parkinson Disease, Late-Onset
  • Parkinson Disease

  • Parkinson'S Disease

  • PD

  • PARK

  • Parkinson Disease, Susceptibility To

  • Late Onset Parkinson'S Disease

  • Late Onset Parkinson Disease

  • Paralysis Agitans

  • Primary Parkinsonism

  • Idiopathic Parkinson Disease

  • Parkinson'S

  • Parkinson Disease, Late-Onset, Susceptibility To

  • Parkinson Disease, Age Of Onset, Modifier

  • Lewy Body Parkinson Disease

  • Idiopathic Parkinson'S Disease

  • Pd - [Parkinson Disease]

  • Parkinson Disease Nos

  • Parkinson, Nos

  • Primary Parkinson Disease

Early Infantile Epileptic Encephalopathy
  • Early Infantile Epileptic Encephalopathy With Burst-Suppression

  • Early Infantile Epileptic Encephalopathy With Suppression Bursts

  • Eiee

  • Early Infantile Epileptic Encephalopathy With Suppression-Bursts

  • Ohtahara Syndrome

  • Encephalopathy, Epileptic, Early Infantile

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus STX1B RGD RGD:3784
Macaca mulatta STX1B VGNC VGNC:78160
Canis familiaris STX1B VGNC VGNC:49723
Bos taurus STX1B VGNC VGNC:35437
Mus musculus STX1B MGD MGI:1930705
Felis catus STX1B VGNC VGNC:65811
Others STX1B NCBI