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    SYNRG synergin, gamma [ Homo sapiens ]

    Gene ID: 11276, updated on 8-Jan-2012
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    Summary

    Official Symbol
    SYNRGprovided by HGNC
    Official Full Name
    synergin, gammaprovided by HGNC
    Primary source
    HGNC:557
    See related
    Ensembl:ENSG00000006114; HPRD:06291; MIM:607291; Vega:OTTHUMG00000133125
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SYNG; AP1GBP1
    Summary
    This gene encodes a protein that interacts with the gamma subunit of AP1 clathrin-adaptor complex. The AP1 complex is located at the trans-Golgi network and associates specific proteins with clathrin-coated vesicles. This encoded protein may act to connect the AP1 complex to other proteins. Alternatively spliced transcript variants that encode different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
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    Genomic context

    Location :
    17q12
    Sequence :
    Chromosome: 17; NC_000017.10 (35874900..35969486, complement)
    See SYNRG in Epigenomics, MapViewer

    Chromosome 17 - NC_000017.10Genomic Context describing neighboring genes Neighboring gene transcriptional adaptor 2A Neighboring gene ribosomal protein L24 pseudogene Neighboring gene dual specificity phosphatase 14 Neighboring gene DEAD (Asp-Glu-Ala-Asp) box polypeptide 52 Neighboring gene HNF1 homeobox B

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Aftiphilin and gamma-synergin are required for secretagogue sensitivity of Weibel-Palade bodies in endothelial cells. Lui-Roberts WW, et al. Mol Biol Cell, 2008 Dec. PMID 18815278.
    2. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560.
    3. Functions of adaptor protein (AP)-3 and AP-1 in tyrosinase sorting from endosomes to melanosomes. Theos AC, et al. Mol Biol Cell, 2005 Nov. PMID 16162817.
    4. The aftiphilin/p200/gamma-synergin complex. Hirst J, et al. Mol Biol Cell, 2005 May. PMID 15758025.
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, et al. Genome Res, 2004 Oct. PMID 15489334.

    See all (18) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Data show that by recruiting aftiphilin/gamma-synergin in addition to clathrin, AP-1 coordinates formation of Weibel-Palade bodies with their acquisition of a regulated secretory phenotype.
      Title: Aftiphilin and gamma-synergin are required for secretagogue sensitivity of Weibel-Palade bodies in endothelial cells.
    2. the aftiphilin/p200/gamma-synergin complex facilitates AP-1 function
      Title: The aftiphilin/p200/gamma-synergin complex.
    3. AP-3 and AP-1 function in partially redundant pathways to transfer tyrosinase from distinct endosomal subdomains to melanosomes
      Title: Functions of adaptor protein (AP)-3 and AP-1 in tyrosinase sorting from endosomes to melanosomes.
    Submit: New GeneRIF Correction
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Q9UMZ2 O43747 AP1G1    HPRD  PubMed  
    Q9UMZ2 O75843 AP1G2    HPRD  PubMed  
    Q9UMZ2 Q7Z6B0 CCDC91    HPRD  PubMed  
    Q9UMZ2 Q9UJY5 GGA1    HPRD  PubMed  
    Q9UMZ2 Q9UJY4 GGA2    HPRD  PubMed  
    Q9UMZ2 Q9NZ52 GGA3    HPRD  PubMed  
    Q9UMZ2 O15126 SCAMP1    HPRD  PubMed  
    BioGRID:116432 BioGRID:106673 AP1G1    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:116432 BioGRID:114420 AP1G2    BioGRID  PubMed Two-hybrid 
    BioGRID:116432 BioGRID:117540 GGA1    BioGRID  PubMed Two-hybrid 
    BioGRID:116432 BioGRID:114899 SCAMP1    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
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    General gene information

    Markers

    Genotypes

    Homology

    Clone Names

    • FLJ34482, MGC104959

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    endocytosis IEA
    Inferred from Electronic Annotation
    more info
    		  
    intracellular protein transport TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    AP-1 adaptor complex TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
    		  
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    synergin gamma
    Names
    synergin gamma
    gamma-synergin
    AP1 gamma subunit binding protein 1
    AP1 subunit gamma-binding protein 1
    adaptor-related protein complex 1 gamma subunit-binding protein 1
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    NCBI Reference Sequences (RefSeq)

    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_001163544.1 → NP_001157016.1  synergin gamma isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (4) that is shorter than isoform 1.
      Source sequence(s)
      AC004099, AF169548, BC143478, DB085203, N93929
      UniProtKB/Swiss-Prot
      Q9UMZ2
      Conserved Domains (1) summary
      cd00052
      Location:238 – 289
      Blast Score: 147
      EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...

    2. NM_001163545.1 → NP_001157017.1  synergin gamma isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses an alternate in-frame splice site in the 5' coding region and lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (5) that is shorter than isoform 1.
      Source sequence(s)
      AC004099, AF169548, BC117313, DB085203, N93929
      UniProtKB/Swiss-Prot
      Q9UMZ2
      Conserved Domains (1) summary
      cd00052
      Location:237 – 288
      Blast Score: 147
      EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...

    3. NM_001163546.1 → NP_001157018.1  synergin gamma isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks an alternate in-frame exon and uses an alternate in-frame splice site in the central coding region, and lacks an alternate in-frame exon in the 3' coding region, compared to variant 1, resulting in an isoform (6) that is shorter than isoform 1.
      Source sequence(s)
      AC004099, AF169548, BC084536, BC090930, DB085203, N93929
      UniProtKB/Swiss-Prot
      Q9UMZ2
      Conserved Domains (1) summary
      cd00052
      Location:238 – 289
      Blast Score: 147
      EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...

    4. NM_001163547.1 → NP_001157019.1  synergin gamma isoform 7

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) lacks two alternate in-frame exons and uses an alternate in-frame splice site in the central coding region, compared to variant 1, resulting in an isoform (7) that is shorter than isoform 1.
      Source sequence(s)
      AC004099, AF169548, BC143476, DB085203, N93929
      Consensus CDS
      CCDS54113.1
      UniProtKB/TrEMBL
      B7ZKZ2
      UniProtKB/Swiss-Prot
      Q9UMZ2
      Related
      ENSP00000343610, ENST00000339208
      Conserved Domains (1) summary
      cd00052
      Location:238 – 288
      Blast Score: 144
      EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...

    5. NM_007247.4 → NP_009178.3  synergin gamma isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC004099, AF169548, BC090930, DB085203, N93929
      Consensus CDS
      CCDS11321.1
      UniProtKB/Swiss-Prot
      Q9UMZ2
      Related
      ENSP00000005279, OTTHUMP00000164162, ENST00000346661, OTTHUMT00000256811
      Conserved Domains (1) summary
      cd00052
      Location:316 – 367
      Blast Score: 147
      EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...

    6. NM_080550.3 → NP_542117.3  synergin gamma isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in both the central and 3' coding regions, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1.
      Source sequence(s)
      AC004099, AF169548, BC090930, DB085203, N93929
      Consensus CDS
      CCDS11322.2
      UniProtKB/Swiss-Prot
      Q9UMZ2
      Related
      ENSP00000424893, OTTHUMP00000217674, ENST00000502449, OTTHUMT00000359431
      Conserved Domains (1) summary
      cd00052
      Location:238 – 289
      Blast Score: 147
      EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...

    7. NM_198882.1 → NP_942583.1  synergin gamma isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the central coding region but includes an additional in-frame exon in the 3' coding region, compared to variant 1, resulting in an isoform (3) that is shorter than isoform 1.
      Source sequence(s)
      AC004099, BC090930, BC143452, DB085203, N93929
      Consensus CDS
      CCDS54114.1
      UniProtKB/TrEMBL
      A8MWU4
      UniProtKB/Swiss-Prot
      Q9UMZ2
      Related
      ENSP00000377903, OTTHUMP00000217675, ENST00000394378, OTTHUMT00000359433
      Conserved Domains (1) summary
      cd00052
      Location:238 – 289
      Blast Score: 147
      EH; Eps15 homology domain; found in proteins implicated in endocytosis, vesicle transport, and signal transduction. The alignment contains a pair of EF-hand motifs, typically one of them is canonical and binds to Ca2+, while the other may not bind to Ca2+. A ...

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000017.10 Reference GRCh37.p5 Primary Assembly

      Range
      35874900..35969486, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000149.1 Alternate HuRef

      Range
      31812168..31906906, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC004099.1 (94033..136221) None
    genomic AC091199.6 (107357..159624) None
    genomic CH471199.1 EAW57594.1
      EAW57595.1
      EAW57596.1
      EAW57597.1
      EAW57598.1
    mRNA AF169548.1 AAD49732.1
    mRNA AK025335.1 None
    mRNA AK025700.1 None
    mRNA AK091801.1 None
    mRNA AK126988.1 None
    mRNA AK302821.1 BAG64019.1
    mRNA AK308292.1 None
    mRNA BC084536.1 None
    mRNA BC090930.1 AAH90930.1
    mRNA BC117313.1 AAI17314.1
    mRNA BC143452.1 None
    mRNA BC143476.1 AAI43477.1
    mRNA BC143478.1 AAI43479.1
    mRNA BG120023.1 None
    mRNA CB053470.1 None
    mRNA DB085203.1 None
    mRNA N93929.1 None
    Protein Accession Links
    GenePept Link UniProtKB Link
    Q9UMZ2.2 GenPept UniProtKB/Swiss-Prot:Q9UMZ2
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    Additional Links

    Additional Links

    Gene LinkOut

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

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