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    GGA1 golgi-associated, gamma adaptin ear containing, ARF binding protein 1 [ Homo sapiens ]

    Gene ID: 26088, updated on 4-Feb-2012

    Summary

    Official Symbol
    GGA1provided by HGNC
    Official Full Name
    golgi-associated, gamma adaptin ear containing, ARF binding protein 1provided by HGNC
    Primary source
    HGNC:17842
    Locus tag
    RP1-37E16.3
    See related
    Ensembl:ENSG00000100083; HPRD:12078; MIM:606004; Vega:OTTHUMG00000030985
    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
    Summary
    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]

    Genomic context

    Location :
    22q13.31
    Sequence :
    Chromosome: 22; NC_000022.10 (38004481..38029571)
    See GGA1 in Epigenomics, MapViewer

    Chromosome 22 - NC_000022.10Genomic Context describing neighboring genes Neighboring gene CDC42 effector protein (Rho GTPase binding) 1 Neighboring gene uncharacterized LOC100652769 Neighboring gene lectin, galactoside-binding, soluble, 2 Neighboring gene SH3-domain binding protein 1 Neighboring gene pyridoxal (pyridoxine, vitamin B6) phosphatase

    Genomic regions, transcripts, and products

    Bibliography

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    NP_037497.1 NP_061039.2 AP1AR    BIND  PubMed C4orf16 (2c18) interacts with GGA1. 
    Q9UJY5 Q6ULP2 AFTPH    HPRD  PubMed  
    Q9UJY5 Q63HQ0 AP1AR    HPRD  PubMed  
    Q9UJY5 P84077 ARF1    HPRD  PubMed  
    Q9UJY5 Q7Z6B0 CCDC91    HPRD  PubMed  
    Q9UJY5 Q00610 CLTC    HPRD  PubMed  
    Q9UJY5 Q9UJY5 GGA1    HPRD  PubMed  
    Q9UJY5 P11717 IGF2R    HPRD  PubMed  
    Q9UJY5 O75074 LRP3    HPRD  PubMed  
    Q9UJY5 P20645 M6PR    HPRD  PubMed  
    Q9UJY5 Q15276 RABEP1    HPRD  PubMed  
    Q9UJY5 Q9UJ41 RABGEF1    HPRD  PubMed  
    Q9UJY5 Q9Y3C5 RNF11    HPRD  PubMed  
    Q9UJY5 P62979 RPS27A    HPRD  PubMed  
    Q9UJY5 P84022 SMAD3    HPRD  PubMed  
    Q9UJY5 Q92673 SORL1    HPRD  PubMed  
    Q9UJY5 Q99523 SORT1    HPRD  PubMed  
    Q9UJY5 Q9UMZ2 SYNRG    HPRD  PubMed  
    Q9UJY5 Q99816 TSG101    HPRD  PubMed  
    BioGRID:117540 BioGRID:106870 ARF1    BioGRID  PubMed Reconstituted Complex 
    NP_001650.1 ARF3    BIND  PubMed ARF3 (hArf3) interacts with an unspecified isoform of GGA1 (hGGA1). 
    BioGRID:117540 BioGRID:106872 ARF3    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:117540 BioGRID:117353 BACE2    BioGRID  PubMed Protein-peptide; Reconstituted Complex 
    BioGRID:117540 BioGRID:107623 CLTC    BioGRID  PubMed Reconstituted Complex 
    BioGRID:117540 BioGRID:110251 M6PR    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:117540 BioGRID:120832 NECAP2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:117540 BioGRID:111806 RAB5A    BioGRID  PubMed Two-hybrid 
    BioGRID:117540 BioGRID:114583 RABEP1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:117540 BioGRID:118154 RABGEF1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:117540 BioGRID:117941 RNF11    BioGRID  PubMed Reconstituted Complex 
    BioGRID:117540 BioGRID:112536 SORL1    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:117540 BioGRID:112180 SORT1    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:117540 BioGRID:116432 SYNRG    BioGRID  PubMed Two-hybrid 
    BioGRID:117540 BioGRID:113164 UBC    BioGRID  PubMed Reconstituted Complex 
    BioGRID:117540 BioGRID:121664 VPS18    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 

    General gene information

    Markers

    Homology

    Pathways from BioSystems

    • Lysosome, organism-specific biosystem (from KEGG)
      Lysosome, organism-specific biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
    • Lysosome, conserved biosystem (from KEGG)
      Lysosome, conserved biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    molecular_function ND
    No biological Data available
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    intracellular protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    intracellular protein transport TAS
    Traceable Author Statement
    more info
     
    vesicle-mediated transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    Golgi apparatus TAS
    Traceable Author Statement
    more info
     
    Golgi apparatus part IEA
    Inferred from Electronic Annotation
    more info
     
    clathrin adaptor complex IEA
    Inferred from Electronic Annotation
    more info
     
    endosome IEA
    Inferred from Electronic Annotation
    more info
     
    endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    ADP-ribosylation factor-binding protein GGA1
    Names
    ADP-ribosylation factor-binding protein GGA1
    gamma-adaptin related protein 1
    gamma-adaptin-related protein 1
    ADP-ribosylation factor binding protein 1
    golgi-localized, gamma ear-containing, ARF-binding protein 1
    golgi associated, gamma adaptin ear containing, ARF binding protein 1

    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_001001560.2NP_001001560.1  ADP-ribosylation factor-binding protein GGA1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks 2 in-frame exons in the coding region, as compared to variant 1. The encoded isoform 2 thus lacks an internal segment, as compared to isoform 1.
      Source sequence(s)
      AK075256, AL110219, BC044629, DA455573
      Consensus CDS
      CCDS33643.1
      UniProtKB/TrEMBL
      Q86YA9
      UniProtKB/Swiss-Prot
      Q9UJY5
      Related
      ENSP00000321288, OTTHUMP00000214014, ENST00000325180, OTTHUMT00000353186
      Conserved Domains (3) summary
      cd03567
      Location:9147
      Blast Score: 612
      VHS_GGA; VHS domain family, GGA subfamily; GGA (Golgi-localized, Gamma-ear-containing, Arf-binding) comprise a subfamily of ubiquitously expressed, monomeric, motif-binding cargo/clathrin adaptor proteins. The VHS domain has a superhelical structure similar to ...
      pfam03127
      Location:208281
      Blast Score: 201
      GAT; GAT domain
      cl03759
      Location:430544
      Blast Score: 269
      Alpha_adaptinC2; Adaptin C-terminal domain
    2. NM_001001561.2NP_001001561.1  ADP-ribosylation factor-binding protein GGA1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks multiple 3' exons and has an alternate 3' end, as compared to variant 1. The encoded isoform 3 has a shorter and distinct C-terminus, as compared to isoform 1.
      Source sequence(s)
      AK075256, AL035496, BC029388, DA455573
      Consensus CDS
      CCDS46704.1
      UniProtKB/TrEMBL
      Q8NCS6
      UniProtKB/Swiss-Prot
      Q9UJY5
      Related
      ENSP00000414387, ENST00000414350
      Conserved Domains (1) summary
      cl02544
      Location:969
      Blast Score: 248
      VHS_ENTH_ANTH; VHS, ENTH and ANTH domain superfamily; composed of proteins containing a VHS, ENTH or ANTH domain. The VHS domain is present in Vps27 (Vacuolar Protein Sorting), Hrs (Hepatocyte growth factor-regulated tyrosine kinase substrate) and STAM (Signal ...
    3. NM_001172687.1NP_001166158.1  ADP-ribosylation factor-binding protein GGA1 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an in-frame segment in the coding region, as compared to variant 1. The resulting isoform (4) lacks an internal segment of 4 aa, as compared to isoform 1.
      Source sequence(s)
      AK075256, AL110219, DA455573
      UniProtKB/Swiss-Prot
      Q9UJY5
      Conserved Domains (3) summary
      cd03567
      Location:9147
      Blast Score: 618
      VHS_GGA; VHS domain family, GGA subfamily; GGA (Golgi-localized, Gamma-ear-containing, Arf-binding) comprise a subfamily of ubiquitously expressed, monomeric, motif-binding cargo/clathrin adaptor proteins. The VHS domain has a superhelical structure similar to ...
      pfam03127
      Location:208303
      Blast Score: 288
      GAT; GAT domain
      cl03759
      Location:513627
      Blast Score: 267
      Alpha_adaptinC2; Adaptin C-terminal domain
    4. NM_001172688.1NP_001166159.1  ADP-ribosylation factor-binding protein GGA1 isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) has an alternate 5' sequence, which results in a downstream AUG start codon, as compared to variant 1. The resulting isoform (5) has a shorter N-terminus, as compared to isoform 1.
      Source sequence(s)
      AK122898, AL110219
      Consensus CDS
      CCDS54526.1
      UniProtKB/TrEMBL
      B0QYR7
      UniProtKB/Swiss-Prot
      Q9UJY5
      Related
      ENSP00000385287, OTTHUMP00000198162, ENST00000406772, OTTHUMT00000319455
      Conserved Domains (3) summary
      pfam03127
      Location:135230
      Blast Score: 291
      GAT; GAT domain
      cl02544
      Location:174
      Blast Score: 353
      VHS_ENTH_ANTH; VHS, ENTH and ANTH domain superfamily; composed of proteins containing a VHS, ENTH or ANTH domain. The VHS domain is present in Vps27 (Vacuolar Protein Sorting), Hrs (Hepatocyte growth factor-regulated tyrosine kinase substrate) and STAM (Signal ...
      cl03759
      Location:444558
      Blast Score: 266
      Alpha_adaptinC2; Adaptin C-terminal domain
    5. NM_013365.4NP_037497.1  ADP-ribosylation factor-binding protein GGA1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AK075256, AL110219, DA455573
      Consensus CDS
      CCDS13951.1
      UniProtKB/Swiss-Prot
      Q9UJY5
      Related
      ENSP00000341344, OTTHUMP00000028975, ENST00000343632, OTTHUMT00000075873
      Conserved Domains (3) summary
      cd03567
      Location:9147
      Blast Score: 619
      VHS_GGA; VHS domain family, GGA subfamily; GGA (Golgi-localized, Gamma-ear-containing, Arf-binding) comprise a subfamily of ubiquitously expressed, monomeric, motif-binding cargo/clathrin adaptor proteins. The VHS domain has a superhelical structure similar to ...
      pfam03127
      Location:208303
      Blast Score: 290
      GAT; GAT domain
      cl03759
      Location:517631
      Blast Score: 268
      Alpha_adaptinC2; Adaptin C-terminal domain

    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_000022.10 Reference GRCh37.p5 Primary Assembly

      Range
      38004481..38029571
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000154.1 Alternate HuRef

      Range
      20971795..20996697
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

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