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

Gene ID: 342096, updated on 27-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
  • 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)

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

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