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    GOLGA6A golgin A6 family member A [ Homo sapiens (human) ]

    Gene ID: 342096, updated on 2-Nov-2024

    Summary

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    Official Symbol
    GOLGA6Aprovided by HGNC
    Official Full Name
    golgin A6 family member Aprovided by HGNC
    Primary source
    HGNC:HGNC:13567
    See related
    Ensembl:ENSG00000159289 MIM:610288; AllianceGenome:HGNC:13567
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GLP; GOLGA6
    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. The protein encoded by this gene is a member of the golgin family of proteins, whose members localize to the Golgi. This gene is found in a large, low copy repeat sequence or duplicon that is found in multiple copies, that are greather than 90% similar, on chromosome 15. Duplicons are associated with deletions, inversions and other chromosome rearrangements that underlie genomic disease. The protein encoded by this gene is thought to be a functional golgin protein while the majority of the related copies of this gene are thought to be transcribed pseudogenes. [provided by RefSeq, Jul 2008]
    Expression
    Restricted expression toward testis (RPKM 17.2) See more
    Orthologs
    all
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    Genomic context

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    See GOLGA6A in Genome Data Viewer
    Location:
    15q24.1
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (74069857..74082550, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (71887216..71899900, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (74362198..74374891, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9738 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:74289929-74290431 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9739 Neighboring gene PML nuclear body scaffold Neighboring gene ReSE screen-validated silencer GRCh37_chr15:74311530-74311700 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:74329432-74330313 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:74333577-74334149 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:74338704-74338895 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9740 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74357879-74358380 Neighboring gene dynamin 1 pseudogene 33 Neighboring gene RNA, 7SL, cytoplasmic 429, pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:74378600-74379309 Neighboring gene uncharacterized LOC107987224 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:74383297-74384097 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74386258-74386774 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:74389067-74389658 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9741 Neighboring gene COMM domain containing 4 pseudogene 2

    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. Neocentromeres in 15q24-26 map to duplicons which flanked an ancestral centromere in 15q25. Ventura M, et al. Genome Res, 2003 Sep. PMID 12915487, Free PMC Article
    2. Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons. Pujana MA, et al. Eur J Hum Genet, 2002 Jan. PMID 11896453
    3. A polymorphic genomic duplication on human chromosome 15 is a susceptibility factor for panic and phobic disorders. Gratacòs M, et al. Cell, 2001 Aug 10. PMID 11509185
    4. Cloning and characterization of a Golgin-related gene from the large-scale polymorphism linked to the PML gene. Gilles F, et al. Genomics, 2000 Dec 15. PMID 11161787
    5. Additional complexity on human chromosome 15q: identification of a set of newly recognized duplicons (LCR15) on 15q11-q13, 15q24, and 15q26. Pujana MA, et al. Genome Res, 2001 Jan. PMID 11156619, Free PMC Article

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Clone Names

    • FLJ75859

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in Golgi organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in Golgi cis cisterna IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in Golgi cisterna membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in cis-Golgi network IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    golgin subfamily A member 6A
    Names
    Golgin linked to PML
    golgi autoantigen, golgin subfamily a, 6
    golgi autoantigen, golgin subfamily a, 6A
    golgi autoantigen, golgin subfamily a, member 6
    golgin-like protein

    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.

    mRNA and Protein(s)

    1. NM_001038640.2 → NP_001033729.2  golgin subfamily A member 6A

      See identical proteins and their annotated locations for NP_001033729.2

      Status: VALIDATED

      Source sequence(s)
      AC013486, AF263742, BC131515
      Consensus CDS
      CCDS32290.1
      UniProtKB/Swiss-Prot
      A8K959, Q9NYA3, Q9NYA7
      UniProtKB/TrEMBL
      A2VDJ1
      Related
      ENSP00000290438.3, ENST00000290438.3
      Conserved Domains (2) summary
      pfam01496
      Location:264 → 346
      V_ATPase_I; V-type ATPase 116kDa subunit family
      pfam15070
      Location:217 → 686
      GOLGA2L5; Putative golgin subfamily A member 2-like protein 5

    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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      74069857..74082550 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      71887216..71899900 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NYA3.3 GenPept UniProtKB/Swiss-Prot:Q9NYA3

    Gene LinkOut

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

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