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    SYBU syntabulin [ Homo sapiens (human) ]

    Gene ID: 55638, updated on 28-Oct-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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    NEW Try the new Transcript table

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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