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    GGA3 golgi associated, gamma adaptin ear containing, ARF binding protein 3 [ Homo sapiens (human) ]

    Gene ID: 23163, updated on 9-Dec-2024

    Summary

    Official Symbol
    GGA3provided by HGNC
    Official Full Name
    golgi associated, gamma adaptin ear containing, ARF binding protein 3provided by HGNC
    Primary source
    HGNC:HGNC:17079
    See related
    Ensembl:ENSG00000125447 MIM:606006; AllianceGenome:HGNC:17079
    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) family. This family includes 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 have been identified in this gene. [provided by RefSeq, Feb 2010]
    Expression
    Ubiquitous expression in spleen (RPKM 11.9), lymph node (RPKM 11.0) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See GGA3 in Genome Data Viewer
    Location:
    17q25.1
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (75236599..75262363, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (76128675..76154454, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (73232694..73258444, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene small ubiquitin like modifier 2 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73178362-73179012 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8959 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:73200579-73201513 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:73201514-73202447 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:73203873-73204440 Neighboring gene nucleoporin 85 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:73220785-73221286 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:73221550-73222749 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:73230746-73230909 Neighboring gene Sharpr-MPRA regulatory region 15557 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12738 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12739 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12740 Neighboring gene Sharpr-MPRA regulatory region 8279 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12741 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:73257869-73258746 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8960 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8961 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:73268227-73269014 Neighboring gene mitochondrial ribosomal protein S7 Neighboring gene MIF4GD divergent transcript Neighboring gene MIF4G domain containing Neighboring gene solute carrier family 25 member 19

    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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Pr55(Gag) gag siRNA-mediated depletion of GGA3 leads to a significant increase in particle release in an HIV-1 Gag late domain-dependent manner, while GGA3 overexpression severely reduces virus particle production by impairing Gag trafficking to the membrane PubMed
    Vpr vpr Expression of a patient-derived HIV-1 Vpr protein reveals a significant reduction in Vpr nuclear import. Vpr F72L mutation is responsible for this decreased Vpr nuclear import and the F72L mutant is co-localized with gamma-adaptin in the Golgi apparatus PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA0154

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables phosphatidylinositol binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein-containing complex binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables small GTPase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables small GTPase binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ubiquitin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
     
    located_in early endosome membrane TAS
    Traceable Author Statement
    more info
     
    located_in endosome membrane TAS
    Traceable Author Statement
    more info
     
    located_in lysosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in recycling endosome membrane TAS
    Traceable Author Statement
    more info
     
    is_active_in trans-Golgi network IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in trans-Golgi network IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    ADP-ribosylation factor-binding protein GGA3
    Names
    Golgi-localized, gamma ear-containing, ARF-binding protein 3

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001172703.3NP_001166174.1  ADP-ribosylation factor-binding protein GGA3 isoform 1

      See identical proteins and their annotated locations for NP_001166174.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) contains an alternate 5' terminal exon, and it thus differs in its 5' UTR and initiates translation at a downstream in-frame start codon, compared to variant long. The encoded isoform (1) is shorter at the N-terminus, compared to isoform long. Both variants 1 and 3 encode isoform 1.
      Source sequence(s)
      AF190864, AK301895, AK302278, CB240770, HY030361
      Consensus CDS
      CCDS54164.1
      UniProtKB/TrEMBL
      J3KSS7
      Related
      ENSP00000462081.1, ENST00000582717.5
      Conserved Domains (3) summary
      smart00809
      Location:529643
      Alpha_adaptinC2; Adaptin C-terminal domain
      cd14240
      Location:141227
      GAT_GGA3; GAT domain found in ADP-ribosylation factor-binding protein GGA3
      cl02544
      Location:174
      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 ...
    2. NM_001172704.3NP_001166175.1  ADP-ribosylation factor-binding protein GGA3 isoform 2

      See identical proteins and their annotated locations for NP_001166175.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains alternate 5' exon structure and it thus differs in its 5' UTR and initiates translation at a downstream in-frame start codon, and it also contains an alternate 3' terminal exon that results in an alternate 3' coding region, compared to variant long. The encoded isoform (2) is shorter at the N-terminus and has a distinct C-terminus, compared to isoform long.
      Source sequence(s)
      AF190864, AK301895, AK302278, CB240770, HY030361
      Consensus CDS
      CCDS58597.1
      UniProtKB/TrEMBL
      J3KSS7
      Related
      ENSP00000463288.1, ENST00000578348.5
      Conserved Domains (3) summary
      smart00809
      Location:479568
      Alpha_adaptinC2; Adaptin C-terminal domain
      cd14240
      Location:91177
      GAT_GGA3; GAT domain found in ADP-ribosylation factor-binding protein GGA3
      cl02544
      Location:124
      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_001291641.2NP_001278570.1  ADP-ribosylation factor-binding protein GGA3 isoform 1

      See identical proteins and their annotated locations for NP_001278570.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an additional exon in the 5' region, and it thus differs in its 5' UTR and initiates translation at a downstream in-frame start codon, compared to variant long. The encoded isoform (1) is shorter at the N-terminus, compared to isoform long. Both variants 1 and 3 encode isoform 1.
      Source sequence(s)
      AF190864, AK291685, AL833603, BC070044, CB240770, DA312660
      Consensus CDS
      CCDS54164.1
      UniProtKB/TrEMBL
      J3KSS7
      Conserved Domains (3) summary
      smart00809
      Location:529643
      Alpha_adaptinC2; Adaptin C-terminal domain
      cd14240
      Location:141227
      GAT_GGA3; GAT domain found in ADP-ribosylation factor-binding protein GGA3
      cl02544
      Location:174
      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 ...
    4. NM_001291642.2NP_001278571.1  ADP-ribosylation factor-binding protein GGA3 isoform 3

      See identical proteins and their annotated locations for NP_001278571.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains alternate 5' exon structure, and it thus differs in its 5' UTR and initiates translation at a downstream in-frame start codon, compared to variant long. The encoded isoform (3) is shorter at the N-terminus, compared to isoform long.
      Source sequence(s)
      AF190864, AK291685, AK296843, CB240770, DA312660
      UniProtKB/TrEMBL
      A8K6M0, B7Z456
      Conserved Domains (3) summary
      smart00809
      Location:479593
      Alpha_adaptinC2; Adaptin C-terminal domain
      cd14240
      Location:91177
      GAT_GGA3; GAT domain found in ADP-ribosylation factor-binding protein GGA3
      cl02544
      Location:124
      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 ...
    5. NM_014001.5NP_054720.1  ADP-ribosylation factor-binding protein GGA3 isoform short

      See identical proteins and their annotated locations for NP_054720.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (short) lacks an alternate in-frame exon in the 5' coding region, compared to variant long, resulting in an isoform (short) that is shorter than isoform long.
      Source sequence(s)
      AF190864, AK291685, BC070044, CB240770, DA312660
      Consensus CDS
      CCDS11716.1
      UniProtKB/TrEMBL
      A8K6M0
      Related
      ENSP00000446421.2, ENST00000538886.5
      Conserved Domains (3) summary
      smart00809
      Location:568682
      Alpha_adaptinC2; Adaptin C-terminal domain
      cd14240
      Location:180266
      GAT_GGA3; GAT domain found in ADP-ribosylation factor-binding protein GGA3
      cl02544
      Location:8113
      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 ...
    6. NM_138619.4NP_619525.1  ADP-ribosylation factor-binding protein GGA3 isoform long

      See identical proteins and their annotated locations for NP_619525.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (long) encodes the longest isoform (long).
      Source sequence(s)
      AF190864, AF219138, AK291685, BC070044, CB240770, DA312660
      Consensus CDS
      CCDS11717.1
      UniProtKB/Swiss-Prot
      B7Z7E2, B7Z7M9, J3KRN0, Q15017, Q6IS16, Q9NZ52, Q9UJY3
      UniProtKB/TrEMBL
      A8K6I6
      Related
      ENSP00000438085.3, ENST00000537686.6
      Conserved Domains (3) summary
      smart00809
      Location:601715
      Alpha_adaptinC2; Adaptin C-terminal domain
      cd03567
      Location:8146
      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 ...
      cd14240
      Location:213299
      GAT_GGA3; GAT domain found in ADP-ribosylation factor-binding protein GGA3

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      75236599..75262363 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      76128675..76154454 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)