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    GOLGA5 golgin A5 [ Homo sapiens (human) ]

    Gene ID: 9950, updated on 3-Nov-2024

    Summary

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    Official Symbol
    GOLGA5provided by HGNC
    Official Full Name
    golgin A5provided by HGNC
    Primary source
    HGNC:HGNC:4428
    See related
    Ensembl:ENSG00000066455 MIM:606918; AllianceGenome:HGNC:4428
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RFG5; GOLIM5; ret-II
    Summary
    The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. This gene encodes one of the golgins, a family of proteins localized to the Golgi. This protein is a coiled-coil membrane protein that has been postulated to play a role in vesicle tethering and docking. Translocations involving this gene and the ret proto-oncogene have been found in tumor tissues; the chimeric sequences have been designated RET-II and PTC5. A pseudogene of this gene is located on the short arm of chromosome 5. [provided by RefSeq, Jul 2013]
    Expression
    Ubiquitous expression in testis (RPKM 23.6), thyroid (RPKM 21.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GOLGA5 in Genome Data Viewer
    Location:
    14q32.12
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (92794305..92839947)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (87026063..87071707)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (93260650..93306292)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene Ras and Rab interactor 3 Neighboring gene uncharacterized LOC124903364 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:93152626-93153253 Neighboring gene Sharpr-MPRA regulatory region 13986 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6038 Neighboring gene Sharpr-MPRA regulatory region 11533 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8943 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8944 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:93175352-93175977 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:93175978-93176602 Neighboring gene legumain Neighboring gene Sharpr-MPRA regulatory region 3328 Neighboring gene MPRA-validated peak2238 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6039 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:93260331-93260478 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:93260501-93261045 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:93261046-93261589 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr14:93312588-93313787 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:93369186-93370385 Neighboring gene long intergenic non-protein coding RNA 2833 Neighboring gene long intergenic non-protein coding RNA 2287

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Membrane traffic: a glitch in the Golgi matrix. Short B, et al. Curr Biol, 2003 Apr 15. PMID 12699642
    2. Targeting of a chlamydial protease impedes intracellular bacterial growth. Christian JG, et al. PLoS Pathog, 2011 Sep. PMID 21990969, Free PMC Article
    3. Interaction of Golgin-84 with the COG complex mediates the intra-Golgi retrograde transport. Sohda M, et al. Traffic, 2010 Dec. PMID 20874812
    4. Chlamydia causes fragmentation of the Golgi compartment to ensure reproduction. Heuer D, et al. Nature, 2009 Feb 5. PMID 19060882
    5. Detection of a novel type of RET rearrangement (PTC5) in thyroid carcinomas after Chernobyl and analysis of the involved RET-fused gene RFG5. Klugbauer S, et al. Cancer Res, 1998 Jan 15. PMID 9443391

    See all (78) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Golgin-84 on coat protein I vesicles interacts with the conserved oligomeric Golgi complex before SNARE assembly.
      Title: Interaction of Golgin-84 with the COG complex mediates the intra-Golgi retrograde transport.
    2. involved in generating and maintaining the architecture of the Golgi apparatus
      Title: Golgin-84 is a rab1 binding partner involved in Golgi structure.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables small GTPase binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in Golgi organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in Golgi organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in Golgi vesicle transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in retrograde transport, vesicle recycling within Golgi IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in Golgi cisterna IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi cisterna IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in Golgi membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in cis-Golgi network IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane HDA PubMed 
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in transport vesicle TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    golgin subfamily A member 5
    Names
    RET-fused gene 5 protein
    cell proliferation-inducing gene 31 protein
    golgi autoantigen, golgin subfamily a, 5
    golgi integral membrane protein 5
    golgin-84

    NCBI Reference Sequences (RefSeq)

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    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.

    Genomic

    1. NG_023248.3 RefSeqGene

      Range
      5002..50644
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005113.4 → NP_005104.4  golgin subfamily A member 5

      Status: REVIEWED

      Source sequence(s)
      AL132987
      Consensus CDS
      CCDS9905.1
      UniProtKB/Swiss-Prot
      C9JRU1, O95287, Q03962, Q2TS49, Q8TBA6, Q9UQQ7
      UniProtKB/TrEMBL
      A8KAL2
      Related
      ENSP00000163416.2, ENST00000163416.7
      Conserved Domains (2) summary
      pfam09787
      Location:420 → 725
      Golgin_A5; Golgin subfamily A member 5
      cl25732
      Location:219 → 570
      SMC_N; RecF/RecN/SMC N terminal domain

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      92794305..92839947
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047432021.1 → XP_047287977.1  golgin subfamily A member 5 isoform X1

      UniProtKB/Swiss-Prot
      C9JRU1, O95287, Q03962, Q2TS49, Q8TBA6, Q9UQQ7

    2. XM_011537420.4 → XP_011535722.1  golgin subfamily A member 5 isoform X2

      UniProtKB/TrEMBL
      A8KAL2
      Conserved Domains (2) summary
      pfam09787
      Location:235 → 683
      Golgin_A5; Golgin subfamily A member 5
      cl23720
      Location:479 → 575
      RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      87026063..87071707
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054377147.1 → XP_054233122.1  golgin subfamily A member 5 isoform X2

    2. XM_054377146.1 → XP_054233121.1  golgin subfamily A member 5 isoform X1

      UniProtKB/Swiss-Prot
      C9JRU1, O95287, Q03962, Q2TS49, Q8TBA6, Q9UQQ7
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TBA6.3 GenPept UniProtKB/Swiss-Prot:Q8TBA6

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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