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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

GGA1 Gene

protein-coding   GIFtS: 56
GCID: GC22P038004

golgi-associated, gamma adaptin ear containing, ARF binding...

 Explore 1 disease affiliated with
GGA1 via our new
 Human Malady Compendium 
Biological research products
for GGA1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for GGA1:
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)

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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000022.10  NC_018933.1  NT_011520.12  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for GGA1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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. 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
Subcellular location: Golgi apparatus, trans-Golgi network membrane; Peripheral membrane protein. Endosome membrane;
Peripheral membrane protein
Caution: It is uncertain whether Met-1 or Met-5 is the initiator
6/20 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

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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9UJY5

  • GGA1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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  

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    Browse Proteins at Uscn

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005794Golgi apparatus TAS--
    GO:0010008endosome membrane IEA--
    GO:0030131clathrin adaptor complex IEA--
    GO:0044431Golgi apparatus part IEA--


    GGA1 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    GGA1 for domains           About GeneDecksing

    5/7 InterPro domains/families (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 families:
    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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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

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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0005515protein binding IPI--


    GGA1 for ontologies           About GeneDecksing


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

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

    GGA1 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Lysosome
    Lysosome1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways



    1         Kegg Pathway  (Kegg details for GGA1):
        Lysosome


    GGA1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GGA1

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

    5/81 Interacting proteins for GGA1 (Q9UJY51, 2, 3 ENSP000003413444) via UniProtKB, MINT, STRING, and/or I2D (see all 81)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    M6PRP206452, 3, ENSP000000004124MINT-18661 I2D: score=3 STRING: ENSP00000000412
    LRP3O750742, 3, ENSP000002531934MINT-18135 I2D: score=2 STRING: ENSP00000253193
    UBBP0CG471, 3, ENSP000003046974EBI-447141,EBI-413034 I2D: score=1 STRING: ENSP00000304697
    IGF2RP117172, 3, ENSP000003494374MINT-16907 MINT-19069 MINT-19068 I2D: score=4 STRING: ENSP00000349437
    RNF11Q9Y3C51, 2, 3, ENSP000002427194EBI-447141,EBI-2129167 MINT-8012739 MINT-8012726 I2D: score=5 STRING: ENSP00000242719
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006886intracellular protein transport TAS--
    GO:0016192vesicle-mediated transport IEA--


    GGA1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    GGA1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    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 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)

    Search CenterWatch for drugs/clinical trials and news about GGA1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
    18/25 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

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    Inhib. RNA
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    Additional cDNA 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 

    24/36 DOTS entries (see all 36):

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

    24/406 AceView cDNA sequences (see all 406):

    BM743360 BM764885 BM451969 BM463420 AK122898 BF805722 BI764718 BM758785 
    AL110219 BC000538 BQ773259 AA604705 AK092417 CA392649 BM562203 BE856550 
    AW170114 AK075256 BG056839 CD300459 BU155634 BQ026635 CO246629 CB152208 

    GeneLoc Exon Structure

    5/31 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    GGA1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCCCCAGCGA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    GGA1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Skeletal MuscleHyoid Arch MusclesMuscle Progenitor CellsSkeletal Muscle
    Skeletal MuscleMandibular Arch MusclesMuscle Progenitor CellsSkeletal Muscle
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See GGA1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GGA1

    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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for GGA1 gene from 7/27 species (see all 27)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves LOC1008575251 ADP-ribosylation factor-binding protein GGA1-like 76.88(n)
    81.43(a)
      100857525  XM_003643145.1  XP_003643193.1 
    lizard
    (Anolis carolinensis)
    Reptilia GGA16
    --
    68(a)
    1 ↔ 1
    5(23734692-23752177)
    zebrafish
    (Danio rerio)
    Actinopterygii gga11 golgi associated, gamma adaptin ear containing, ARF more 64.3(n)
    65.48(a)
      798361  NM_001004000.2  NP_001004000.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG30023
    Gga1
    Golgi-localized, gamma-adaptin ear containing, ARF more1 26(a)3
    47.73(n)1
    32.47(a)1
      8F13
    319021  NM_132343.31  NP_572571.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GGA21 Gga2p 40.64(n)
    27.79(a)
      856508   NP_011976.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G769706
    AT5G168806
    (see all 9)
    Target of Myb protein 1
    (see all 9)
    17(a)
    17(a)
    (see all 9)
    many ↔ many
    many ↔ many
    (see all 9)
    1(28922666-28925404)
    5(5548914-5551463)
    rice
    (Oryza sativa)
    Liliopsida --
    --
    (see all 10)
    VHS and GAT domain containing protein, expressed
    (see all 10)
    17(a)
    16(a)
    (see all 10)
    many ↔ many
    many ↔ many
    (see all 10)
    10(22980611-22983543)
    2(28667133-28671003)


    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)
    About This Section
    Paralogs for GGA1 gene
    GGA22  TOM1L22  TOM1L12  TOM12  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, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/472 NCBI SNPs in GGA1 are shown (see all 472    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs738870101,2
    C,--20970371(+) GTTTAG/AGGGAA 1 -- us2k12Minor allele frequency- A:0.08WA 120
    rs1480053671,2
    --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
    rs1923840141,2
    --38002867(+) AAAAAA/TATATA 4 -- us2k10--------
    rs1150873131,2
    C,--38002926(+) ACTACG/TTTACA 4 -- us2k11Minor allele frequency- T:0.01WA 118
    rs1845887021,2
    --38002933(+) TACAGC/TTTTTG 4 -- us2k10--------
    rs1504976271,2
    --38002984(+) ATCTCA/GATGGC 4 -- us2k10--------

    HapMap Linkage Disequilibrium report for GGA1 (38004481 - 38029571 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for GGA1
         1 CNV: 4128

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    GGA1 for disorders           About GeneDecksing

    OMIM gene information: 606004    OMIM disorders: --

    1 disease for GGA1:    About MalaCards
    breast cancer

    1 Novoseek 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)
    About This Section

    PubMed articles for GGA1 gene, integrated from 9 sources (see all 91):
    (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. (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. (2000)
    3. Intracellular trafficking and secretion of adiponectin is dependent on GGA-coated vesicles. (PubMed id 16407204)1, 3, 9 Xie L....Mora S. (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. (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. (2003)
    6. Multiple modification and protein interaction signals drive the Ring finger protein 11 (RNF11) E3 ligase to the endosomal compartmen t. (PubMed id 20676133)1, 2 Santonico E....Castagnoli L. (2010)
    7. Interactions of GGA3 with the ubiquitin sorting machinery. (PubMed id 15039775)1, 2 Puertollano R. and Bonifacino J.S. (2004)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    9. GAT (GGA and Tom1) domain responsible for ubiquitin binding and ubiquitination. (PubMed id 14660606)1, 2 Shiba Y.... Nakayama K. (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. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 26088 HGNC: 17842 AceView: GGA1 Ensembl:ENSG00000100083 euGenes: HUgn26088
    ECgene: GGA1 Kegg: 26088 H-InvDB: GGA1

    (According to HUGE)
    About This Section
      --

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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