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SYNRG synergin gamma [ Homo sapiens (human) ]

Gene ID: 11276, updated on 13-Mar-2020

Summary

Official Symbol
SYNRGprovided by HGNC
Official Full Name
synergin gammaprovided by HGNC
Primary source
HGNC:HGNC:557
See related
Ensembl:ENSG00000275066 MIM:607291
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]
Expression
Ubiquitous expression in lymph node (RPKM 8.0), spleen (RPKM 6.7) and 25 other tissues See more
Orthologs

Genomic context

See SYNRG in Genome Data Viewer
Location:
17q12
Exon count:
26
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (37514807..37609496, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (35874900..35969544, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene transcriptional adaptor 2A Neighboring gene ribosomal protein L24 pseudogene Neighboring gene dual specificity phosphatase 14 Neighboring gene uncharacterized LOC105371755 Neighboring gene microRNA 378j Neighboring gene DExD-box helicase 52 Neighboring gene uncharacterized LOC105371756

Genomic regions, transcripts, and products

Expression

  • Project title: 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

Phenotypes

NHGRI GWAS Catalog

Description
Genomic association analysis identifies multiple loci influencing antihypertensive response to an angiotensin II receptor blocker.
NHGRI GWA Catalog
GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ34482, MGC104959

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
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 TAS
Traceable Author Statement
more info
PubMed 
clathrin coat of trans-Golgi network vesicle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
synergin gamma
Names
AP1 gamma subunit binding protein 1
AP1 subunit gamma-binding protein 1
adaptor-related protein complex 1 gamma subunit-binding protein 1
gamma-synergin

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_001163544.3NP_001157016.1  synergin gamma isoform 4

    See identical proteins and their annotated locations for NP_001157016.1

    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)
    AC243585, AF169548, BC143478, DB085203, N93929
    UniProtKB/Swiss-Prot
    Q9UMZ2
    Conserved Domains (2) summary
    cd00052
    Location:238289
    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 ...
    cl00928
    Location:116150
    dsDNA_bind; Double-stranded DNA-binding domain
  2. NM_001163545.3NP_001157017.1  synergin gamma isoform 5

    See identical proteins and their annotated locations for NP_001157017.1

    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)
    AC243585, AF169548, BC117313, DB085203, N93929
    Consensus CDS
    CCDS59284.1
    UniProtKB/Swiss-Prot
    Q9UMZ2
    Related
    ENSP00000477885.1, ENST00000619541.4
    Conserved Domains (2) summary
    cd00052
    Location:237288
    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 ...
    cl00928
    Location:115149
    dsDNA_bind; Double-stranded DNA-binding domain
  3. NM_001163546.3NP_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)
    AC243585, AF169548, BC084536, BC090930, DB085203, N93929
    Consensus CDS
    CCDS59285.1
    UniProtKB/Swiss-Prot
    Q9UMZ2
    Related
    ENSP00000482962.1, ENST00000616179.4
    Conserved Domains (2) summary
    cd00052
    Location:238289
    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 ...
    cl00928
    Location:116150
    dsDNA_bind; Double-stranded DNA-binding domain
  4. NM_001163547.3NP_001157019.1  synergin gamma isoform 7

    See identical proteins and their annotated locations for NP_001157019.1

    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)
    AC243585, AF169548, BC143476, DB085203, N93929
    Consensus CDS
    CCDS54113.1
    UniProtKB/Swiss-Prot
    Q9UMZ2
    Related
    ENSP00000481151.1, ENST00000614941.4
    Conserved Domains (2) summary
    cd00052
    Location:238288
    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 ...
    cl00928
    Location:116150
    dsDNA_bind; Double-stranded DNA-binding domain
  5. NM_007247.6NP_009178.3  synergin gamma isoform 1

    See identical proteins and their annotated locations for NP_009178.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC243585, AF169548, BC090930, DB085203, N93929
    Consensus CDS
    CCDS11321.1
    UniProtKB/Swiss-Prot
    Q9UMZ2
    Related
    ENSP00000483453.1, ENST00000612223.5
    Conserved Domains (2) summary
    cd00052
    Location:316367
    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 ...
    cl00928
    Location:116150
    dsDNA_bind; Double-stranded DNA-binding domain
  6. NM_080550.5NP_542117.3  synergin gamma isoform 2

    See identical proteins and their annotated locations for NP_542117.3

    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)
    AC243585, AF169548, BC090930, DB085203, N93929
    Consensus CDS
    CCDS11322.2
    UniProtKB/Swiss-Prot
    Q9UMZ2
    Related
    ENSP00000484529.1, ENST00000621136.4
    Conserved Domains (2) summary
    cd00052
    Location:238289
    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 ...
    cl00928
    Location:116150
    dsDNA_bind; Double-stranded DNA-binding domain
  7. NM_198882.3NP_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)
    AC243585, BC090930, BC143452, DB085203, N93929
    Consensus CDS
    CCDS54114.1
    UniProtKB/Swiss-Prot
    Q9UMZ2
    Related
    ENSP00000483063.1, ENST00000622045.4
    Conserved Domains (2) summary
    cd00052
    Location:238289
    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 ...
    cl00928
    Location:116150
    dsDNA_bind; Double-stranded DNA-binding domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    37514807..37609496 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017024106.1XP_016879595.1  synergin gamma isoform X31

  2. XM_017024097.1XP_016879586.1  synergin gamma isoform X22

  3. XM_017024090.1XP_016879579.1  synergin gamma isoform X15

  4. XM_017024088.1XP_016879577.1  synergin gamma isoform X13

  5. XM_017024092.1XP_016879581.1  synergin gamma isoform X17

  6. XM_017024087.1XP_016879576.1  synergin gamma isoform X12

  7. XM_017024084.1XP_016879573.1  synergin gamma isoform X9

  8. XM_017024089.1XP_016879578.1  synergin gamma isoform X14

  9. XM_017024086.1XP_016879575.1  synergin gamma isoform X11

  10. XM_017024083.1XP_016879572.1  synergin gamma isoform X8

  11. XM_017024085.1XP_016879574.1  synergin gamma isoform X10

  12. XM_017024079.1XP_016879568.1  synergin gamma isoform X4

  13. XM_017024082.1XP_016879571.1  synergin gamma isoform X7

  14. XM_005256980.5XP_005257037.1  synergin gamma isoform X5

    See identical proteins and their annotated locations for XP_005257037.1

    Conserved Domains (2) summary
    cd00052
    Location:417468
    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 ...
    cl00928
    Location:116150
    dsDNA_bind; Double-stranded DNA-binding domain
  15. XM_017024078.1XP_016879567.1  synergin gamma isoform X3

  16. XM_017024076.1XP_016879565.1  synergin gamma isoform X1

  17. XM_017024081.2XP_016879570.1  synergin gamma isoform X6

  18. XM_017024102.1XP_016879591.1  synergin gamma isoform X27

  19. XM_017024099.1XP_016879588.1  synergin gamma isoform X24

  20. XM_017024091.1XP_016879580.1  synergin gamma isoform X16

  21. XM_017024077.1XP_016879566.1  synergin gamma isoform X2

  22. XM_017024095.1XP_016879584.1  synergin gamma isoform X20

  23. XM_017024094.1XP_016879583.1  synergin gamma isoform X19

  24. XM_017024104.2XP_016879593.1  synergin gamma isoform X29

  25. XM_017024098.2XP_016879587.1  synergin gamma isoform X23

  26. XM_017024093.2XP_016879582.1  synergin gamma isoform X18

    UniProtKB/Swiss-Prot
    Q9UMZ2
  27. XM_017024103.2XP_016879592.1  synergin gamma isoform X28

  28. XM_017024100.1XP_016879589.1  synergin gamma isoform X25

  29. XM_017024101.1XP_016879590.1  synergin gamma isoform X26

  30. XM_017024096.1XP_016879585.1  synergin gamma isoform X21

  31. XM_017024105.1XP_016879594.1  synergin gamma isoform X30

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_187614.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    1753975..1848531 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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