Gene Gene information from NCBI Gene database.
Entrez ID 55638
Gene name Syntabulin
Gene symbol SYBU
Synonyms (NCBI Gene)
GOLSYNOCSYNSNPHL
Chromosome 8
Chromosome location 8q23.2
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 1
miRNA miRNA information provided by mirtarbase database.
206
miRTarBase ID miRNA Experiments Reference
MIRT020241 hsa-miR-130b-3p Sequencing 20371350
MIRT027999 hsa-miR-93-5p Sequencing 20371350
MIRT028295 hsa-miR-32-5p Sequencing 20371350
MIRT031204 hsa-miR-19b-3p Sequencing 20371350
MIRT1405006 hsa-miR-1200 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0005515 Function Protein binding IPI 15459722, 16713569, 17043677, 32296183, 32814053, 33961781
GO:0005737 Component Cytoplasm IEA
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005794 Component Golgi apparatus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611568 26011 ENSG00000147642
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NX95
Protein name Syntabulin (Golgi-localized syntaphilin-related protein) (Syntaxin-1-binding protein)
Protein function Part of a kinesin motor-adapter complex that is critical for the anterograde axonal transport of active zone components and contributes to activity-dependent presynaptic assembly during neuronal development. {ECO:0000250, ECO:0000269|PubMed:1545
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15290 Syntaphilin 211 507 Golgi-localised syntaxin-1-binding clamp Family
Tissue specificity TISSUE SPECIFICITY: Isoform 3, isoform 4 and isoform 5 are expressed in HeLa cell line (at protein level). Isoform 3 is expressed in fetal and adult brain. Isoform 4 is expressed in numerous fetal tissues (brain, kidney, liver, lung, and thymus) and in ad
Sequence
MGPLRESKKEHRVQHHDKEISRSRIPRLILRPHMPQQQHKVSPASESPFSEEESREFNPS
SSGRSARTVSSNSFCSDDTGCPSSQSVSPVKTPSDAGNSPIGFCPGSDEGFTRKKCTIGM
VGEGSIQSSRYKKESKSGLVKPGSEADFSSSSSTGSISAPEVHMSTAGSKRSSSSRNRGP
HGRSNGASSHKPGSSPSSPREKDLLSMLCRNQLSPVNIHPSYAPSSPSSSNSGSYKGSDC
SPIMRRSGRYMSCGENHGVRPPNPEQYLTPLQQKEVTVRHLKTKLKESERRLHERESEIV
ELKSQLARMREDWIEEECHRVEAQLALKEARKEIKQLKQVIETMRSSLADKDKGIQKYFV
DINIQNKKLESLLQSMEMAHSGSLRDELCLDFPCDSPEKSLTLNPPLDTMADGLSLEEQV
TGEGADRELLVGDSIANSTDLFDEIVTATTTESGDLELVHSTPGANVLELLPIVMGQEEG
SVVVERAVQTDVVPYSPAISELIQSVL
QKLQDPCPSSLASPDESEPDSMESFPESLSALV
VDLTPRNPNSAILLSPVETPYANVDAEVHANRLMRELDFAACVEERLDGVIPLARGGVVR
QYWSSSFLVDLLAVAAPVVPTVLWAFSTQRGGTDPVYNIGALLRGCCVVALHSLRRTAFR
IKT
Sequence length 663
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
JUVENILE DERMATOMYOSITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Cognition Disorders Associate 29324989
★☆☆☆☆
Found in Text Mining only
Death Associate 29324989
★☆☆☆☆
Found in Text Mining only
Dementia Inhibit 29324989
★☆☆☆☆
Found in Text Mining only
Polycystic Ovary Syndrome Stimulate 38243290
★☆☆☆☆
Found in Text Mining only
Thymic epithelial tumor Associate 33161413
★☆☆☆☆
Found in Text Mining only