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SYBU syntabulin [ Homo sapiens (human) ]

Gene ID: 55638, updated on 2-Nov-2024

Summary

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Official Symbol
SYBUprovided by HGNC
Official Full Name
syntabulinprovided by HGNC
Primary source
HGNC:HGNC:26011
See related
Ensembl:ENSG00000147642 MIM:611568; AllianceGenome:HGNC:26011
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
OCSYN; SNPHL; GOLSYN
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]
Expression
Broad expression in brain (RPKM 10.5), fat (RPKM 7.9) and 21 other tissues See more
Orthologs
mouse all
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Genomic context

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See SYBU in Genome Data Viewer
Location:
8q23.2
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (109573978..109691600, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (110702563..110820184, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (110586207..110703829, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene PKHD1 like 1 Neighboring gene mitogen-activated protein kinase 6 pseudogene 5 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr8:110534343-110535542 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27809 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19470 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27810 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27811 Neighboring gene estrogen receptor binding site associated antigen 9 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27812 Neighboring gene NANOG hESC enhancer GRCh37_chr8:110625919-110626714 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:110656818-110657754 Neighboring gene SYBU antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27815 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:110777616-110778116 Neighboring gene SMG5 nonsense mediated mRNA decay factor pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:110870760-110871260 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:110871261-110871761 Neighboring gene uncharacterized LOC124902096

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Molecular cloning and characterization of gene for Golgi-localized syntaphilin-related protein on human chromosome 8q23. Funakoshi E, et al. Gene, 2005 Jan 3. PMID 15656992
  2. Syntabulin-mediated anterograde transport of mitochondria along neuronal processes. Cai Q, et al. J Cell Biol, 2005 Sep 12. PMID 16157705, Free PMC Article
  3. Syntabulin-kinesin-1 family member 5B-mediated axonal transport contributes to activity-dependent presynaptic assembly. Cai Q, et al. J Neurosci, 2007 Jul 4. PMID 17611281, Free PMC Article
  4. Syntabulin regulates the trafficking of PICK1-containing vesicles in neurons. Xu J, et al. Sci Rep, 2016 Feb 12. PMID 26868290, Free PMC Article
  5. Expression of m-Golsyn/Syntabulin gene during mouse brain development. Funakoshi E, et al. Neurosci Lett, 2006 Aug 7. PMID 16750881

See all (34) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. syntabulin forms a complex with PICK1 and ASICs, regulates ASIC protein expression in neurons, and participates in ASIC-induced acidotoxicity.
    Title: Syntabulin regulates the trafficking of PICK1-containing vesicles in neurons.
  2. syntabulin could be a novel effector of Epac2 and play a critical role in cAMP-enhanced insulin secretion
    Title: The microtubule associated protein syntabulin is required for glucose-stimulated and cAMP-potentiated insulin secretion.
  3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  4. Functional characterization of the mouse Golsyn/Syntabulin ortholog.
    Title: Expression of m-Golsyn/Syntabulin gene during mouse brain development.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ20366, KIAA1472

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in anterograde neuronal dense core vesicle transport IEA
Inferred from Electronic Annotation
more info
  
involved_in axonal transport of mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of insulin secretion involved in cellular response to glucose stimulus IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of synaptic activity IEA
Inferred from Electronic Annotation
more info
  
involved_in synapse maturation IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in Golgi membrane IEA
Inferred from Electronic Annotation
more info
  
located_in axon cytoplasm IEA
Inferred from Electronic Annotation
more info
  
is_active_in cytoplasmic microtubule IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
  
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
  
colocalizes_with microtubule IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrion HTP PubMed 
colocalizes_with vesicle IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
syntabulin
Names
GOLSYN A protein
GOLSYN B protein
GOLSYN C protein
Golgi-localized protein
golgi-localized syntaphilin-related protein
implicated in syntaxin trafficking in neurons
microtubule-associated protein
syntabulin (syntaxin-interacting)
syntaxin-1-binding protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001099743.2 → NP_001093213.1  syntabulin isoform b

    See identical proteins and their annotated locations for NP_001093213.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in a shorter protein (isoform b), compared to isoform a. Variants 7-11 encode the same isoform.
    Source sequence(s)
    AB195676, AC079061, BU607867, DA155137
    Consensus CDS
    CCDS43763.1
    UniProtKB/TrEMBL
    A0A0C4DG86
    Conserved Domains (1) summary
    pfam15290
    Location:234 → 423
    Syntaphilin; Golgi-localized syntaxin-1-binding clamp

  2. NM_001099744.2 → NP_001093214.1  syntabulin isoform a

    See identical proteins and their annotated locations for NP_001093214.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Variants 1-6 encode the same isoform.
    Source sequence(s)
    AB195676, AC079061, BG702715, BU607867, DA803330
    Consensus CDS
    CCDS47912.1
    UniProtKB/Swiss-Prot
    A8K354, B3KQX3, B3KU61, Q5R1T1, Q5R1T2, Q5R1T3, Q5Y2M6, Q8ND49, Q8TCR6, Q96D80, Q9NX95, Q9P256
    UniProtKB/TrEMBL
    A0A0C4DG86
    Related
    ENSP00000407118.1, ENST00000422135.5
    Conserved Domains (1) summary
    pfam15290
    Location:235 → 424
    Syntaphilin; Golgi-localized syntaxin-1-binding clamp

  3. NM_001099745.2 → NP_001093215.1  syntabulin isoform a

    See identical proteins and their annotated locations for NP_001093215.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1-6 encode the same isoform (a).
    Source sequence(s)
    AB195676, AC079061, BU607867, DC350594
    Consensus CDS
    CCDS47912.1
    UniProtKB/Swiss-Prot
    A8K354, B3KQX3, B3KU61, Q5R1T1, Q5R1T2, Q5R1T3, Q5Y2M6, Q8ND49, Q8TCR6, Q96D80, Q9NX95, Q9P256
    UniProtKB/TrEMBL
    A0A0C4DG86
    Related
    ENSP00000434679.1, ENST00000533171.5
    Conserved Domains (1) summary
    pfam15290
    Location:235 → 424
    Syntaphilin; Golgi-localized syntaxin-1-binding clamp

  4. NM_001099746.2 → NP_001093216.1  syntabulin isoform d

    See identical proteins and their annotated locations for NP_001093216.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (13) has multiple differences in the presence and absence of exons at its 5' end, compared to variant 1. These differences produce a unique 5' UTR and cause translation initiation at a downstream start codon, compared to variant 1. The encoded protein (isoform d) is shorter than isoform a. Variants 13-15 encode the same isoform.
    Source sequence(s)
    AB195676, AC079061, BU607867, DB155885
    Consensus CDS
    CCDS55271.1
    UniProtKB/TrEMBL
    B3KRD1
    Related
    ENSP00000386196.3, ENST00000408889.7
    Conserved Domains (1) summary
    pfam15290
    Location:116 → 305
    Syntaphilin; Golgi-localized syntaxin-1-binding clamp

  5. NM_001099747.2 → NP_001093217.1  syntabulin isoform b

    See identical proteins and their annotated locations for NP_001093217.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (8) differs in the 5' UTR and uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in a shorter protein (isoform b), compared to isoform a. Variants 7-11 encode the same isoform.
    Source sequence(s)
    AB195677, AC079061, BU607867
    Consensus CDS
    CCDS43763.1
    UniProtKB/TrEMBL
    A0A0C4DG86
    Related
    ENSP00000414748.2, ENST00000446070.6
    Conserved Domains (1) summary
    pfam15290
    Location:234 → 423
    Syntaphilin; Golgi-localized syntaxin-1-binding clamp

  6. NM_001099748.2 → NP_001093218.1  syntabulin isoform a

    See identical proteins and their annotated locations for NP_001093218.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1-6 encode the same isoform (a).
    Source sequence(s)
    AB195677, AC079061, BU607867, DA530258, DN993094
    Consensus CDS
    CCDS47912.1
    UniProtKB/Swiss-Prot
    A8K354, B3KQX3, B3KU61, Q5R1T1, Q5R1T2, Q5R1T3, Q5Y2M6, Q8ND49, Q8TCR6, Q96D80, Q9NX95, Q9P256
    UniProtKB/TrEMBL
    A0A0C4DG86
    Related
    ENSP00000386154.2, ENST00000408908.6
    Conserved Domains (1) summary
    pfam15290
    Location:235 → 424
    Syntaphilin; Golgi-localized syntaxin-1-binding clamp

  7. NM_001099749.2 → NP_001093219.1  syntabulin isoform d

    See identical proteins and their annotated locations for NP_001093219.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (14) has multiple differences in the presence and absence of exons at its 5' end, compared to variant 1. These differences produce a unique 5' UTR and cause translation initiation at a downstream start codon, compared to variant 1. The encoded protein (isoform d) is shorter than isoform a. Variants 13-15 encode the same isoform.
    Source sequence(s)
    AB195678, AC079061, BU607867
    Consensus CDS
    CCDS55271.1
    UniProtKB/TrEMBL
    B3KRD1
    Related
    ENSP00000436041.1, ENST00000528331.5
    Conserved Domains (1) summary
    pfam15290
    Location:116 → 305
    Syntaphilin; Golgi-localized syntaxin-1-binding clamp

  8. NM_001099750.2 → NP_001093220.1  syntabulin isoform a

    See identical proteins and their annotated locations for NP_001093220.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1-6 encode the same isoform (a).
    Source sequence(s)
    AB195676, AC079061, BU607867, CA395128, DA530258
    Consensus CDS
    CCDS47912.1
    UniProtKB/Swiss-Prot
    A8K354, B3KQX3, B3KU61, Q5R1T1, Q5R1T2, Q5R1T3, Q5Y2M6, Q8ND49, Q8TCR6, Q96D80, Q9NX95, Q9P256
    UniProtKB/TrEMBL
    A0A0C4DG86
    Related
    ENSP00000403544.1, ENST00000433638.1
    Conserved Domains (1) summary
    pfam15290
    Location:235 → 424
    Syntaphilin; Golgi-localized syntaxin-1-binding clamp

  9. NM_001099751.2 → NP_001093221.1  syntabulin isoform b

    See identical proteins and their annotated locations for NP_001093221.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (10) differs in the 5' UTR and uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in a shorter protein (isoform b), compared to isoform a. Variants 7-11 encode the same isoform.
    Source sequence(s)
    AB195677, AC079061, AK055246, BU607867, DA787454
    Consensus CDS
    CCDS43763.1
    UniProtKB/TrEMBL
    A0A0C4DG86
    Related
    ENSP00000432501.1, ENST00000528647.5
    Conserved Domains (1) summary
    pfam15290
    Location:234 → 423
    Syntaphilin; Golgi-localized syntaxin-1-binding clamp

  10. NM_001099752.2 → NP_001093222.1  syntabulin isoform a

    See identical proteins and their annotated locations for NP_001093222.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Variants 1-6 encode the same isoform (a).
    Source sequence(s)
    AB195677, AC079061, AK055246, BU607867, DA787454
    Consensus CDS
    CCDS47912.1
    UniProtKB/Swiss-Prot
    A8K354, B3KQX3, B3KU61, Q5R1T1, Q5R1T2, Q5R1T3, Q5Y2M6, Q8ND49, Q8TCR6, Q96D80, Q9NX95, Q9P256
    UniProtKB/TrEMBL
    A0A0C4DG86
    Related
    ENSP00000404369.1, ENST00000440310.5
    Conserved Domains (1) summary
    pfam15290
    Location:235 → 424
    Syntaphilin; Golgi-localized syntaxin-1-binding clamp

  11. NM_001099753.2 → NP_001093223.1  syntabulin isoform b

    See identical proteins and their annotated locations for NP_001093223.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (11) differs in the 5' UTR and uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in a shorter protein (isoform b), compared to isoform a. Variants 7-11 encode the same isoform.
    Source sequence(s)
    AB195676, AC079061, BU607867, DA773983, DB127917
    Consensus CDS
    CCDS43763.1
    UniProtKB/TrEMBL
    A0A0C4DG86
    Conserved Domains (1) summary
    pfam15290
    Location:234 → 423
    Syntaphilin; Golgi-localized syntaxin-1-binding clamp

  12. NM_001099754.2 → NP_001093224.1  syntabulin isoform a

    See identical proteins and their annotated locations for NP_001093224.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR compared to variant 1. Variants 1-6 encode the same isoform (a).
    Source sequence(s)
    AB195676, AC079061, AK096558, BU607867, DB127917
    Consensus CDS
    CCDS47912.1
    UniProtKB/Swiss-Prot
    A8K354, B3KQX3, B3KU61, Q5R1T1, Q5R1T2, Q5R1T3, Q5Y2M6, Q8ND49, Q8TCR6, Q96D80, Q9NX95, Q9P256
    UniProtKB/TrEMBL
    A0A0C4DG86
    Related
    ENSP00000276646.9, ENST00000276646.14
    Conserved Domains (1) summary
    pfam15290
    Location:235 → 424
    Syntaphilin; Golgi-localized syntaxin-1-binding clamp

  13. NM_001099755.2 → NP_001093225.1  syntabulin isoform d

    See identical proteins and their annotated locations for NP_001093225.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (15) has multiple differences in the presence and absence of exons at its 5' end, compared to variant 1. These differences produce a unique 5' UTR and cause translation initiation at a downstream start codon, compared to variant 1. The encoded protein (isoform d) is shorter than isoform a. Variants 13-15 encode the same isoform.
    Source sequence(s)
    AB195676, AC079061, AK090559, BU607867, DB127917
    Consensus CDS
    CCDS55271.1
    UniProtKB/TrEMBL
    B3KRD1
    Related
    ENSP00000432962.1, ENST00000533065.5
    Conserved Domains (1) summary
    pfam15290
    Location:116 → 305
    Syntaphilin; Golgi-localized syntaxin-1-binding clamp

  14. NM_001099756.1 → NP_001093226.1  syntabulin isoform c

    See identical proteins and their annotated locations for NP_001093226.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (12) has multiple differences in the presence and absence of exons at its 5' end, compared to variant 1. These differences produce a unique 5' UTR and cause translation initiation at a unique start codon, compared to variant 1. The encoded protein (isoform c) is shorter and has a distinct N-terminus, compared to isoform a.
    Source sequence(s)
    AB195679, BU607867
    Consensus CDS
    CCDS43764.1
    UniProtKB/TrEMBL
    A0A0C4DG86
    Related
    ENSP00000382019.3, ENST00000399066.7
    Conserved Domains (1) summary
    pfam15290
    Location:232 → 421
    Syntaphilin; Golgi-localized syntaxin-1-binding clamp

  15. NM_001330596.2 → NP_001317525.1  syntabulin isoform e

    Status: VALIDATED

    Description
    Transcript Variant: This variant (16) represents use of an alternate promoter and therefore differs in the 5' UTR and 5' coding region compared to variant 1. These differences cause translation initiation at an alternate start codon compared to variant 1. The encoded isoform (e) is shorter than and has a distinct N-terminus compared to isoform a.
    Source sequence(s)
    AA255630, AK297182, AL834406, DC351469
    Consensus CDS
    CCDS83315.1
    UniProtKB/TrEMBL
    B3KRD1, B7Z4D2
    Related
    ENSP00000433941.1, ENST00000529690.5

  16. NM_001363032.2 → NP_001349961.1  syntabulin isoform f

    Status: VALIDATED

    Source sequence(s)
    AB195676, AC079061, BU607867, DA309225
    UniProtKB/TrEMBL
    B3KRD1
    Conserved Domains (1) summary
    pfam15290
    Location:72 → 259
    Syntaphilin; Golgi-localized syntaxin-1-binding clamp

  17. NM_017786.6 → NP_060256.3  syntabulin isoform b

    See identical proteins and their annotated locations for NP_060256.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (9) differs in the 5' UTR and uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in a shorter protein (isoform b), compared to isoform a. Variants 7-11 encode the same isoform.
    Source sequence(s)
    AB195676, AC079061, BU607867
    Consensus CDS
    CCDS43763.1
    UniProtKB/TrEMBL
    A0A0C4DG86
    Related
    ENSP00000433446.1, ENST00000533895.5
    Conserved Domains (1) summary
    pfam15290
    Location:234 → 423
    Syntaphilin; Golgi-localized syntaxin-1-binding clamp

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    109573978..109691600 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047421950.1 → XP_047277906.1  syntabulin isoform X2

  2. XM_047421949.1 → XP_047277905.1  syntabulin isoform X1

  3. XM_011517154.3 → XP_011515456.1  syntabulin isoform X3

    UniProtKB/TrEMBL
    B3KRD1
    Related
    ENSP00000434871.1, ENST00000529175.5
    Conserved Domains (1) summary
    pfam15290
    Location:68 → 257
    Syntaphilin; Golgi-localized syntaxin-1-binding clamp

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    110702563..110820184 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054360784.1 → XP_054216759.1  syntabulin isoform X2

  2. XM_054360783.1 → XP_054216758.1  syntabulin isoform X1

  3. XM_054360785.1 → XP_054216760.1  syntabulin isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NX95.2 GenPept UniProtKB/Swiss-Prot:Q9NX95

Gene LinkOut

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