2. Gene
  3. SYBU - syntabulin Gene

SYBU - syntabulin Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as OCSYN; SNPHL; GOLSYN

Gene ID: 55638 | Gene type: protein coding

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 Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
15459722 GOA
Cellular Component GO Annotation Evidence Reference 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 Reference
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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS14067 SYBU Human Pre-designed siRNA Set A Pre-designed Sets / 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