SYBU - syntabulin Gene

Also Known as OCSYN; SNPHL; GOLSYN

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 55638

About SYBU

Cytogenetic location: 8q23.2 Genomic coordinates (GRCh38): 8:109,573,978-109,691,600 (from NCBI)

This gene has 38 transcripts (splice variants), 209 orthologues and 1 paralogue. Broad expression in brain (RPKM 10.5), fat (RPKM 7.9) and 21 other tissues.

Summary

Syntabulin/GOLSYN is part of a Kinesin motor-adaptor complex that is critical for the anterograde axonal transport of active zone components and contributes to activity-dependent presynaptic assembly during neuronal development (Cai et al., 2007 [PubMed 17611281]).[supplied by OMIM, Mar 2008]

SYBU Products (17)

mRNA Protein Name
NM_001099743.2 NP_001093213.1 syntabulin isoform b
NM_001099744.2 NP_001093214.1 syntabulin isoform a
NM_001099745.2 NP_001093215.1 syntabulin isoform a
NM_001099746.2 NP_001093216.1 syntabulin isoform d
NM_001099747.2 NP_001093217.1 syntabulin isoform b
NM_001099748.2 NP_001093218.1 syntabulin isoform a
NM_001099749.2 NP_001093219.1 syntabulin isoform d
NM_001099750.2 NP_001093220.1 syntabulin isoform a
NM_001099751.2 NP_001093221.1 syntabulin isoform b
NM_001099752.2 NP_001093222.1 syntabulin isoform a
NM_001099753.2 NP_001093223.1 syntabulin isoform b
NM_001099754.2 NP_001093224.1 syntabulin isoform a
NM_001099755.2 NP_001093225.1 syntabulin isoform d
NM_001099756.1 NP_001093226.1 syntabulin isoform c
NM_001330596.2 NP_001317525.1 syntabulin isoform e
NM_001363032.2 NP_001349961.1 syntabulin isoform f
NM_017786.6 NP_060256.3 syntabulin isoform b

Gene Ontology

  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
15459722 GOA
Cellular Component GO Annotation Evidence References Source
colocalizes with microtubule IDA
IDA: Inferred from direct assay
15459722 GOA
colocalizes with vesicle IDA
IDA: Inferred from direct assay
15459722 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

SYBU Protein Structure

Syntaphilin

Syntaphilin: Golgi-localised syntaxin-1-binding clamp (210 - 507)

  • 0
  • 200
  • 400
  • 600
  • 663 a.a.
Protein Preferred Names Protein Names

syntabulin

  • GOLSYN A protein

SYBU Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
SYBU Q9NX95 DTNBP1 Homo sapiens Q96EV8
Y2H
17043677
Intra
SYBU Q9NX95 ATXN1 Homo sapiens P54253
Y2H
16713569
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Type C Thymoma

  • Thymoma, Type C
Developmental And Epileptic Encephalopathy 4

  • DEE4

  • Epileptic Encephalopathy, Early Infantile, 4

  • Eiee4

  • Early Infantile Epileptic Encephalopathy 4

  • Stxbp1-Related Early-Onset Encephalopathy

  • Early Myoclonic Encephalopathy

  • Developmental And Epileptic Encephalopathy, 4

  • Stxbp1 Disorders

  • Stxbp1 Encephalopathy

  • Developmental And Epileptic Encephalopathy, Type 4

  • Early-Infantile Epileptic Encephalopathy 4

  • Stxbp1 Encephalopathy With Epilepsy

  • Stxbp1 Epileptic Encephalopathy

  • Stxbp1-Related Developmental And Epileptic Encephalopathy

  • Stxbp1-Related Epileptic Encephalopathy

  • Eme

  • Neonatal Epilepsy With Suppression-Burst Pattern

  • Encephalopathy, Epileptic, Early Infantile, Type 4
Persistent Hyperplastic Primary Vitreous

  • Congenital Retinal Detachment

  • Ncrna Disease

  • Non-Syndromic Congenital Retinal Non-Attachment

  • Pfvs

  • Phpv

  • Persistent Fetal Vasculature Syndrome
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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS14067 SYBU Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta SYBU VGNC VGNC:78218
Canis familiaris SYBU VGNC VGNC:47013
Bos taurus SYBU VGNC VGNC:35503
Rattus norvegicus SYBU RGD RGD:1564335
Felis catus SYBU VGNC VGNC:65871
Mus musculus SYBU MGD MGI:2442392
Others SYBU NCBI