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

Summary

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

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_000015.10 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?

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 Variation Viewer (GRCh37.p13)

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

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)

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