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GOLGA6B golgin A6 family member B [ Homo sapiens (human) ]

Gene ID: 55889, updated on 5-Mar-2024

Summary

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Official Symbol
GOLGA6Bprovided by HGNC
Official Full Name
golgin A6 family member Bprovided by HGNC
Primary source
HGNC:HGNC:32205
See related
Ensembl:ENSG00000215186 AllianceGenome:HGNC:32205
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
GOLGA; GOLGA6D
Summary
This gene is found in a large, low copy repeat sequence or duplicon that is found in multiple copies, which are greater than 90% similar, on chromosome 15. Duplicons are associated with deletions, inversions and other chromosomal rearrangements that underlie genomic disease. This gene is a member of the golgin gene family, whose protein products localize to the Golgi apparatus. The majority of the related gene copies are thought to be transcribed pseudogenes. It is not known whether this gene is a pseudogene or if it encodes a golgin protein. [provided by RefSeq, Jul 2008]
Expression
Restricted expression toward testis (RPKM 10.1) See more
Orthologs
all
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Genomic context

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See GOLGA6B in Genome Data Viewer
Location:
15q24.1
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (72654697..72669599)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (70472014..70486922)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (72947038..72961940)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:72902139-72902639 Neighboring gene golgin A6 family member A pseudogene Neighboring gene long intergenic non-protein coding RNA 2259 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9725 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9726 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:72920983-72921575 Neighboring gene uncharacterized LOC112268145 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:72939289-72940171 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr15:72942597-72943114 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:72954615-72955116 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:72955117-72955616 Neighboring gene RNA, 7SL, cytoplasmic 853, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:72963099-72964076 Neighboring gene HIG1 hypoxia inducible domain family member 2B Neighboring gene Bardet-Biedl syndrome 4 Neighboring gene MPRA-validated peak2381 silencer

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 (7) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Golgi Apparatus Target Proteins in Gastroenterological Cancers: A Comprehensive Review of GOLPH3 and GOLGA Proteins.
    Title: Golgi Apparatus Target Proteins in Gastroenterological Cancers: A Comprehensive Review of GOLPH3 and GOLGA Proteins.
Submit: New GeneRIF Correction

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

General gene information

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Homology

Gene Ontology Provided by GOA

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 6B
Names
Golgin subfamily A member 6B
Putative golgin subfamily A member 6D
golgi autoantigen, golgin subfamily a, 6B
golgin-like protein
putative golgin subfamily A member 6B

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_018652.5 → NP_061122.4  golgin subfamily A member 6B

    See identical proteins and their annotated locations for NP_061122.4

    Status: REVIEWED

    Source sequence(s)
    AC009712, AC100827
    Consensus CDS
    CCDS10245.2
    UniProtKB/Swiss-Prot
    A6NDN3, A8MYY7
    UniProtKB/TrEMBL
    A2VDJ1
    Related
    ENSP00000408132.3, ENST00000421285.4
    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_2023_10

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
    72654697..72669599
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    70472014..70486922
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A6NDN3.3 GenPept UniProtKB/Swiss-Prot:A6NDN3

Gene LinkOut

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