COPG1 COPI coat complex subunit gamma 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: COPG1provided by HGNC
Official Full Name: COPI coat complex subunit gamma 1provided by HGNC
Primary source: HGNC:HGNC:2236
See related: Ensembl:ENSG00000181789 MIM:615525; AllianceGenome:HGNC:2236
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: COPG
Summary: Predicted to enable structural molecule activity. Predicted to be involved in several processes, including Golgi vesicle transport; establishment of Golgi localization; and organelle transport along microtubule. Located in Golgi apparatus. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in thyroid (RPKM 47.3), prostate (RPKM 41.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3q21.3

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (129249606..129277773)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (131994406..132022572)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (128968449..128996616)

Chromosome 3 - NC_000003.12 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?

Combined immunodeficiency due to a mutation in the gamma1 subunit of the coat protein I complex.
Title: Combined immunodeficiency due to a mutation in the γ1 subunit of the coat protein I complex.
The bacterial copper resistance protein CopG contains a cysteine-bridged tetranuclear copper cluster.
Title: The bacterial copper resistance protein CopG contains a cysteine-bridged tetranuclear copper cluster.
These data unveil the molecular mechanism of Golgi retention of kAE1 G701D and suggest that disruption of the COPI-kAE1 G701D interaction could be a therapeutic strategy to treat distal renal tubular acidosis caused by this mutant.
Title: γ-COPI mediates the retention of kAE1 G701D protein in Golgi apparatus - a mechanistic explanation of distal renal tubular acidosis associated with the G701D mutation.
ERManI and gamma-COP contribute to a golgi-based quality control module that facilitates the retrieval of captured ERAD substrates back to the endoplasmic reticulum.
Title: Golgi-situated endoplasmic reticulum α-1, 2-mannosidase contributes to the retrieval of ERAD substrates through a direct interaction with γ-COP.
Observational study of gene-disease association. (HuGE Navigator)
Title: Association study of 182 candidate genes in anorexia nervosa.
Results describe the structure of the appendage domain of gamma-COP and show that it has a similar overall fold as the alpha-appendage of AP2.
Title: Gamma-COP appendage domain - structure and function.
The D1 receptor associates with the gamma-subunit of the COPI coatomer complex. Association between the coatomer complex and hydrophobic residues within the proximal C-terminus of the D1 receptor may serve an important role in receptor transport.
Title: Interaction of gamma-COP with a transport motif in the D1 receptor C-terminus.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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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Markers

HSC2JD062 (e-PCR)
- UniSTS:20514

DBEST27818 (e-PCR)
- UniSTS:46135

D3S3816 (e-PCR)
- UniSTS:53885

RH98834 (e-PCR)
- UniSTS:85450

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural molecule activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in endoplasmic reticulum to Golgi vesicle-mediated transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in establishment of Golgi localization	ISS Inferred from Sequence or Structural Similarity more info
involved_in intra-Golgi vesicle-mediated transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in intracellular protein transport	IEA Inferred from Electronic Annotation more info
involved_in organelle transport along microtubule	IBA Inferred from Biological aspect of Ancestor more info
involved_in organelle transport along microtubule	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein secretion	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of COPI vesicle coat	IBA Inferred from Biological aspect of Ancestor more info
part_of COPI vesicle coat	ISS Inferred from Sequence or Structural Similarity more info
located_in Golgi apparatus	IDA Inferred from Direct Assay more info
is_active_in Golgi membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in Golgi membrane	TAS Traceable Author Statement more info
located_in cytosol	TAS Traceable Author Statement more info
is_active_in endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
is_active_in endoplasmic reticulum-Golgi intermediate compartment	IBA Inferred from Biological aspect of Ancestor more info
located_in transport vesicle	TAS Traceable Author Statement more info

General protein information

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Preferred Names: coatomer subunit gamma-1

Names: coat protein gamma-cop; coatomer protein complex subunit gamma 1; coatomer protein complex, subunit gamma; coatomer subunit gamma; gamma-1-COP; gamma-1-coat protein; gamma-COP; gamma-coat 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_016128.4 → NP_057212.1 coatomer subunit gamma-1

See identical proteins and their annotated locations for NP_057212.1

Status: VALIDATED

Source sequence(s)

AB047846, AC137695, AK025147, BU521557

Consensus CDS

CCDS33851.1

UniProtKB/Swiss-Prot

A8K6M8, B3KMF6, Q54AC4, Q9Y678

Related

ENSP00000325002.6, ENST00000314797.10

Conserved Domains (2) summary

COG5240
Location:7 → 869

SEC21; Vesicle coat complex COPI, gamma subunit [Intracellular trafficking and secretion]

sd00044
Location:398 → 423

HEAT; HEAT repeat [structural motif]