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

Summary

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

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 (72654697..72669599)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (70472014..70486922)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (72947038..72961940)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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)

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