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GGA1 Gene

protein-coding   GIFtS: 59
GCID: GC22P038004

Golgi-Associated, Gamma Adaptin Ear Containing, ARF Binding...

Microbiology & Infectious Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Golgi-Associated, Gamma Adaptin Ear Containing, ARF Binding Protein
11 2
     ADP-Ribosylation Factor-Binding Protein GGA12
Gamma-Adaptin-Related Protein 12 3     Gamma-Adaptin Related Protein 12
Golgi-Localized, Gamma Ear-Containing, ARF-Binding Protein 12 3     Golgi Associated, Gamma Adaptin Ear Containing, ARF Binding Protein 12
ADP-Ribosylation Factor Binding Protein 12     

External Ids:    HGNC: 178421   Entrez Gene: 260882   Ensembl: ENSG000001000837   OMIM: 6060045   UniProtKB: Q9UJY53   

Export aliases for GGA1 gene to outside databases

Previous GC identifers: GC22P034619 GC22P036247 GC22P036329 GC22P020971


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for GGA1 Gene:
This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) protein family.
Members of this family are ubiquitous coat proteins that regulate the trafficking of proteins between the
trans-Golgi network and the lysosome. These proteins share an amino-terminal VHS domain which mediates sorting of
the mannose 6-phosphate receptors at the trans-Golgi network. They also contain a carboxy-terminal region with
homology to the ear domain of gamma-adaptins. Multiple alternatively spliced transcript variants encoding
different isoforms have been found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for GGA1 Gene:
GGA1 (golgi-associated, gamma adaptin ear containing, ARF binding protein 1) is a protein-coding gene. Diseases associated with GGA1 include breast and colorectal cancer, and hiv-1. An important paralog of this gene is GGA2.

UniProtKB/Swiss-Prot: GGA1_HUMAN, Q9UJY5
Function: Plays a role in protein sorting and trafficking between the trans-Golgi network (TGN) and endosomes.
Mediates the ARF-dependent recruitment of clathrin to the TGN and binds ubiquitinated proteins and membrane cargo
molecules with a cytosolic acidic cluster-dileucine (AC-LL) motif

Gene Wiki entry for GGA1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000022.11  NT_011520.13  NC_018933.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GGA1 gene promoter:
         AP-1   ATF-2   Olf-1   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGGA1 promoter sequence
   Search Chromatin IP Primers for GGA1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GGA1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q13.31   Ensembl cytogenetic band:  22q13.1   HGNC cytogenetic band: 22q13.31

GGA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GGA1 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P038004:  view genomic region     (about GC identifiers)

Start:
38,004,481 bp from pter      End:
38,029,571 bp from pter
Size:
25,091 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: GGA1_HUMAN, Q9UJY5 (See protein sequence)
Recommended Name: ADP-ribosylation factor-binding protein GGA1  
Size: 639 amino acids; 70384 Da
Subunit: Monomer. Interacts with NECAP1. Interacts with CNST (By similarity). Interacts with GGA2 and GGA3. Binds
to clathrin and activated ARFs, including ARF1 and ARF6. Interacts with RABEP1 and RABGEF1. Interacts with the
type-I membrane proteins SORT1, SORL1, LRP3, M6PR/CD-MPR, IGF2R/CI-MPR and BACE1. Binds CCDC91, P200, SYNRG,
EPN4, NECAP2 and AFTPH/aftiphilin. Interacts with TSG101 and UBC. Interacts with RNF11
Caution: It is uncertain whether Met-1 or Met-5 is the initiator
Selected PDB 3D structures from and Proteopedia for GGA1 (see all 20):
1J2J (3D)        1JWF (3D)        1JWG (3D)        1NA8 (3D)        1NAF (3D)        1NWM (3D)    
Secondary accessions: A8K3D3 B0QYR7 Q5TG07 Q86YA9 Q8NCS6 Q9BW94 Q9UG00 Q9UGW0 Q9UGW1
Alternative splicing: 5 isoforms:  Q9UJY5-1   Q9UJY5-2   Q9UJY5-3   Q9UJY5-4   Q9UJY5-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for GGA1: NX_Q9UJY5

Explore proteomics data for GGA1 at MOPED

Post-translational modifications: 

  • Phosphorylated by CK2 and dephosphorylated by PP2A. Phosphorylation of GGA1 allows the internal AC-LL motif to
    bind the VHS domain and to inhibit the recognition of cargo signals1
  • Ubiquitinated (By similarity)1
  • Ubiquitination2 at Lys23, Lys101, Lys165, Lys198, Lys206
  • Modification sites at PhosphoSitePlus

  • See GGA1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001001560.1  NP_001001561.1  NP_001166158.1  NP_001166159.1  NP_037497.1  

    ENSEMBL proteins: 
     ENSP00000341344   ENSP00000371175   ENSP00000384030   ENSP00000403534   ENSP00000321288  
     ENSP00000404453   ENSP00000390416   ENSP00000400159   ENSP00000416153   ENSP00000411727  
     ENSP00000385287   ENSP00000395901   ENSP00000402930   ENSP00000411373   ENSP00000414413  
     ENSP00000338647   ENSP00000414387  

    GGA1 Human Recombinant Protein Products:

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    Novus Biologicals GGA1 Protein
    Novus Biologicals GGA1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    GGA1 Antibody Products:

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    LSBio Antibodies in human, mouse, rat for GGA1

    GGA1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for GGA1
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 7):
     IPR002014 VHS
     IPR004152 GAT
     IPR018205 VHS_subgr
     IPR013041 Coatomer/clathrin_app_Ig-like
     IPR008152 Clathrin_a/b/g-adaptin_app_Ig

    Graphical View of Domain Structure for InterPro Entry Q9UJY5

    ProtoNet protein and cluster: Q9UJY5

    4 Blocks protein domains:
    IPB002014 VHS
    IPB004152 GAT domain
    IPB008152 Alpha/gamma adaptin
    IPB008153 Gamma-adaptin


    UniProtKB/Swiss-Prot: GGA1_HUMAN, Q9UJY5
    Domain: The VHS domain functions as a recognition module for sorting signals composed of an acidic cluster
    followed by two leucines (AC-LL motif)
    Domain: The GAT domain is responsible for interaction with ARF-GTP, UBC and RABEP1. Required for recruitment to
    the TGN it prevents ARF-GTP hydrolysis
    Domain: The unstructured hinge region contains clathrin-binding but no autoinhibitory (AC-LL) motifs
    Domain: The GAE domain binds accessory proteins regulating GGAs function
    Similarity: Belongs to the GGA protein family
    Similarity: Contains 1 GAE domain
    Similarity: Contains 1 GAT domain
    Similarity: Contains 1 VHS domain


    GGA1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GGA1_HUMAN, Q9UJY5
    Function: Plays a role in protein sorting and trafficking between the trans-Golgi network (TGN) and endosomes.
    Mediates the ARF-dependent recruitment of clathrin to the TGN and binds ubiquitinated proteins and membrane cargo
    molecules with a cytosolic acidic cluster-dileucine (AC-LL) motif

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0005515protein binding IPI11390366
         
    GGA1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for GGA1:
     Decreased Wnt reporter activit  Synthetic lethal with c-Myc af 

         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Gga1):
     growth/size/body  homeostasis/metabolism  mortality/aging  reproductive system 

    GGA1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GGA1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for GGA1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GGA1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GGA1

    miRNA
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    miRTarBase miRNAs that target GGA1:
    hsa-mir-320a (MIRT044423)

    Block miRNA regulation of human, mouse, rat GGA1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate GGA1 (see all 25):
    hsa-miR-3910 hsa-miR-765 hsa-miR-29a hsa-miR-29c hsa-miR-301a hsa-miR-766 hsa-miR-124 hsa-miR-506
    SwitchGear 3'UTR luciferase reporter plasmidGGA1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for GGA1
    Predesigned siRNA for gene silencing in human, mouse, rat GGA1

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for GGA1

    Clone
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    OriGene clones in human, mouse for GGA1 (see all 28)
    OriGene ORF clones in mouse, rat for GGA1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 5): GGA1 (NM_001001560)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GGA1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GGA1

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for GGA1 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GGA1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    GGA1_HUMAN, Q9UJY5: Golgi apparatus, trans-Golgi network membrane; Peripheral membrane protein. Endosome
    membrane; Peripheral membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endosome5
    golgi apparatus5
    cytosol2
    nucleus2
    lysosome1
    vacuole1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005794Golgi apparatus TAS--
    GO:0010008endosome membrane IEA--

    GGA1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for GGA1 About    
    See pathways by source

    SuperPathContained pathways About
    1Lysosome
    Lysosome

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Kegg Pathway  (Kegg details for GGA1):
        Lysosome


    GGA1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GGA1
    Interactions:

        GeneGlobe Interaction Network for GGA1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for GGA1 (Q9UJY51, 2, 3 ENSP000003413444) via UniProtKB, MINT, STRING, and/or I2D (see all 105)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MON2Q7Z3U71, 2, 3, ENSP000003772524EBI-447141,EBI-358882 MINT-6732151 MINT-6732169 I2D: score=1 STRING: ENSP00000377252
    UBBP0CG471, 3, ENSP000003046974EBI-447141,EBI-413034 I2D: score=1 STRING: ENSP00000304697
    IGF2RP117171, 2, 3, ENSP000003494374EBI-447141,EBI-1048580 MINT-16907 MINT-19069 MINT-19068 I2D: score=4 STRING: ENSP00000349437
    SORT1Q995231, 2, 3, ENSP000002566374EBI-447141,EBI-1057058 MINT-17263 MINT-17262 I2D: score=5 STRING: ENSP00000256637
    RNF11Q9Y3C51, 2, 3, ENSP000002427194EBI-447141,EBI-396669 MINT-8012739 MINT-8012726 I2D: score=5 STRING: ENSP00000242719
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006886intracellular protein transport TAS--
    GO:0016192vesicle-mediated transport IEA--
    GO:0045732positive regulation of protein catabolic process IEA--

    GGA1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for GGA1

    1 HMDB Compound for GGA1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--

    3 Novoseek inferred chemical compound relationships for GGA1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mannose 6-phosphate 81.3 4 18431031 (1), 15044437 (1), 18817526 (1)
    adp 40.8 1 16888322 (1)
    serine 27.2 5 15466887 (2), 15117318 (1), 20015111 (1)



    GGA1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for GGA1 gene (5 alternative transcripts): 
    NM_001001560.2  NM_001001561.2  NM_001172687.1  NM_001172688.1  NM_013365.4  

    Unigene Cluster for GGA1:

    Golgi-associated, gamma adaptin ear containing, ARF binding protein 1
    Hs.499158  [show with all ESTs]
    Unigene Representative Sequence: NM_001172688
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 25):
    ENST00000343632(uc003atc.3 uc003ate.3 uc003atd.3) ENST00000381756
    ENST00000489772 ENST00000405147 ENST00000429218 ENST00000325180 ENST00000439161
    ENST00000449944 ENST00000411501 ENST00000453208 ENST00000447515 ENST00000406772(uc003atf.3)
    ENST00000431745 ENST00000484804 ENST00000488672 ENST00000326597 ENST00000413251
    ENST00000423024
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate GGA1 (see all 25):
    hsa-miR-3910 hsa-miR-765 hsa-miR-29a hsa-miR-29c hsa-miR-301a hsa-miR-766 hsa-miR-124 hsa-miR-506
    SwitchGear 3'UTR luciferase reporter plasmidGGA1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat GGA1
    Clone
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    OriGene clones in human, mouse for GGA1 (see all 28)
    OriGene ORF clones in mouse, rat for GGA1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 5): GGA1 (NM_001001560)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GGA1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GGA1
    Primer
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    OriGene qPCR primer pairs and template standards for GGA1
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      QuantiTect SYBR Green Assays in human, mouse, rat GGA1
      QuantiFast Probe-based Assays in human, mouse, rat GGA1

    Additional mRNA sequence: 

    AF190862.1 AF218584.1 AF233521.1 AK075256.1 AK095427.1 AK122898.1 AK225157.1 AK290548.1 
    AL110219.1 BC000538.2 BC010917.1 BC029388.1 BC044629.1 CR456493.1 

    Selected DOTS entries (see all 36):

    DT.97806294  DT.120645621  DT.100028050  DT.102842941  DT.312925  DT.100883213  DT.120645635  DT.100696337 
    DT.100883211  DT.120645649  DT.433471  DT.439500  DT.91753103  DT.40252102  DT.100883208  DT.120645617 
    DT.92002400  DT.95207448  DT.95348251  DT.120645598  DT.120645618  DT.120645653  DT.100835830  DT.100839208 

    Selected AceView cDNA sequences (see all 406):

    CR596724 BM830064 BU738322 CD673213 AK092417 AX747533 AW024216 BM451969 
    BU155634 BM758599 CA309806 AK122898 BF805722 BM758611 AL038926 AW630864 
    BC000538 BM927459 BX424672 BG056839 NM_013365 BM463420 CB152208 BM748913 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for GGA1 (see all 31)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c · 7d · 7e ^ 8 ^ 9a · 9b · 9c · 9d · 9e · 9f · 9g ^ 10a · 10b ^
    SP1:                                            -     -     -     -     -     -     -                                         -     -     -     -     -         
    SP2:              -     -     -     -     -     -     -     -     -     -     -     -     -     -                             -     -     -     -     -         
    SP3:              -     -     -     -     -     -     -     -     -     -     -     -     -     -                                   -     -     -     -         
    SP4:              -     -     -     -     -     -     -     -     -     -     -     -     -     -                             -     -     -     -     -         
    SP5:                    -     -     -     -     -     -     -     -     -     -                                               -     -     -     -     -         

    ExUns: 11 ^ 12a · 12b · 12c · 12d · 12e · 12f · 12g ^ 13a · 13b ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18a · 18b · 18c ^ 19a · 19b · 19c ^ 20a · 20b ^ 21a · 21b · 21c ^
    SP1:  -                                                                                   -     -     -                       -     -                           
    SP2:  -                                                                                   -     -     -                       -     -                           
    SP3:  -                                                                                   -     -     -                       -     -                           
    SP4:  -                                                                                   -     -     -     -     -     -     -     -                           
    SP5:  -                                                                                                                                                         

    ExUns: 22a · 22b ^ 23a · 23b · 23c · 23d ^ 24a · 24b ^ 25a · 25b ^ 26a · 26b
    SP1:              -                                                         
    SP2:              -                                                         
    SP3:              -                                                         
    SP4:              -                                                         
    SP5:                                                                        


    ECgene alternative splicing isoforms for GGA1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    GGA1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCCCAGCGA
    GGA1 Expression
    About this image


    GGA1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             XY Germ Cells Testis Cord
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Muscle Progenitor Cells Mandibular Arch Muscles
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Pancreas (Endocrine System)
             Islets of Langerhans
    GGA1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GGA1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.499158

    UniProtKB/Swiss-Prot: GGA1_HUMAN, Q9UJY5
    Tissue specificity: Ubiquitously expressed

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for GGA1 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gga11 , 5 golgi associated, gamma adaptin ear containing, ARF more1, 5 88.45(n)1
    91.5(a)1
      15 (37.70 cM)5
    1060391  NM_145929.21  NP_666041.11 
     788771905 
    chicken
    (Gallus gallus)
    Aves LOC1008575251 ADP-ribosylation factor-binding protein GGA1-like 76.8(n)
    81.69(a)
      100857525  XM_004949799.1  XP_004949856.1 
    lizard
    (Anolis carolinensis)
    Reptilia GGA16
    golgi-associated, gamma adaptin ear containing, AR...
    66(a)
    1 ↔ 1
    5(23734692-23752177)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia gga11 golgi-associated, gamma adaptin ear containing, ARF more 65.81(n)
    70.85(a)
      549722  NM_001016968.2  NP_001016968.1 
    zebrafish
    (Danio rerio)
    Actinopterygii gga11 golgi associated, gamma adaptin ear containing, ARF more 63.93(n)
    65.43(a)
      798361  NM_001004000.2  NP_001004000.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG30023   -- 26(a)   8F1   --
    worm
    (Caenorhabditis elegans)
    Secernentea apt-96
    Protein APT-9 (apt-9) mRNA, complete cds
    22(a)
    1 → many
    X(11068527-11071925) WBGene00000166
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GGA26
    GGA16
    Protein that interacts with and regulates Arf1p an...
    Golgi-localized protein with homology to gamma-ada...
    21(a)
    17(a)
    many ↔ many
    many ↔ many
    VIII(328303-330060) YHR108W
    IV(1190059-1191732) YDR358W


    ENSEMBL Gene Tree for GGA1 (if available)
    TreeFam Gene Tree for GGA1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GGA1 gene
    GGA22  GGA32  
    6 SIMAP similar genes for GGA1 using alignment to 12 protein entries:     GGA1_HUMAN (see all proteins):
    GGA3    GGA2    TOM1L2    TOM1L1    TOM1    HGS

    GGA1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for GGA1 (see all 641)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0365234
    A breast cancer sample4--see VAR_0365232 P A mis40--------
    VAR_0365224
    A breast cancer sample4--see VAR_0365222 G S mis40--------
    rs1453970841,2
    --20969809(+) GCAGAA/GGTTGC 4 -- us2k10--------
    rs738870101,2
    C,F--20970371(+) GTTTAG/AGGGAA 1 -- us2k12Minor allele frequency- A:0.08WA 120
    rs1891536971,2
    --20970375(+) AGGGGA/GAAAAC 1 -- us2k10--------
    rs1480053671,2
    C--38002490(+) AGTGAG/TCTGAG 4 -- us2k10--------
    rs1849314991,2
    --38002498(+) GAGATC/TGTGCC 4 -- us2k10--------
    rs1416351511,2
    --38002660(+) AACATC/GGTGAA 4 -- us2k10--------
    rs1889438681,2
    --38002686(+) AAAATA/CTGAAA 4 -- us2k10--------
    rs96226571,2
    C,F,A,H--38002865(+) AAAAAA/TATATA 4 -- us2k1 tfbs37Minor allele frequency- T:0.22NA WA CSA EA 366

    HapMap Linkage Disequilibrium report for GGA1 (38004481 - 38029571 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for GGA1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv915035CNV Loss21882294
    nsv829203CNV Loss20364138
    dgv4964n71CNV Loss21882294
    nsv834191CNV Loss17160897
    nsv471197CNV Loss18288195
    dgv4965n71CNV Loss21882294
    dgv1406e1CNV Complex17122850

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 606004    OMIM disorders: --

    5 diseases for GGA1:    
    About MalaCards
    breast and colorectal cancer    hiv-1    malaria    colorectal cancer
    breast cancer


    GGA1 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for GGA1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    senile plaques 48.1 1 17151287 (1)


    Export disorders for GGA1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for GGA1 gene, integrated from 10 sources (see all 100):
    (articles sorted by number of sources associating them with GGA1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A family of proteins with gamma-adaptin and VHS domains that facilitate trafficking between the trans-Golgi network and the vacuole/lysosome. (PubMed id 10747088)1, 2, 3 Hirst J....Robinson M.S. (J. Cell Biol. 2000)
    2. GGAs: a family of ADP ribosylation factor-binding proteins related to adaptors and associated with the Golgi complex. (PubMed id 10747089)1, 2, 3 Dell'Angelica E.C.... Bonifacino J.S. (J. Cell Biol. 2000)
    3. Intracellular trafficking and secretion of adiponectin is dependent on GGA-coated vesicles. (PubMed id 16407204)1, 3, 9 Xie L....Mora S. (J. Biol. Chem. 2006)
    4. Phosphorylation-induced conformational changes regulate GGAs 1 and 3 function at the trans-Golgi network. (PubMed id 12578827)1, 2, 9 Ghosh P. and Kornfeld S. (J. Biol. Chem. 2003)
    5. Biochemical and structural characterization of the interaction of memapsin 2 (beta-secretase) cytosolic domain with the VHS domain of GGA proteins. (PubMed id 14567678)1, 2, 9 He X.... Tang J. (Biochemistry 2003)
    6. Multiple modification and protein interaction signals drive the Ring finger protein 11 (RNF11) E3 ligase to the endosomal compartment. (PubMed id 20676133)1, 2 Santonico E....Castagnoli L. (Oncogene 2010)
    7. Interactions of GGA3 with the ubiquitin sorting machinery. (PubMed id 15039775)1, 2 Puertollano R. and Bonifacino J.S. (Nat. Cell Biol. 2004)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    9. GAT (GGA and Tom1) domain responsible for ubiquitin binding and ubiquitination. (PubMed id 14660606)1, 2 Shiba Y.... Nakayama K. (J. Biol. Chem. 2004)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 26088 HGNC: 17842 AceView: GGA1 Ensembl:ENSG00000100083 euGenes: HUgn26088
    ECgene: GGA1 Kegg: 26088 H-InvDB: GGA1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for GGA1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for GGA1 gene:
    Search GeneIP for patents involving GGA1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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