COPE COPI coat complex subunit epsilon [Homo sapiens (human)] - Gene

Summary

Official Symbol: COPEprovided by HGNC
Official Full Name: COPI coat complex subunit epsilonprovided by HGNC
Primary source: HGNC:HGNC:2234
See related: Ensembl:ENSG00000105669 MIM:606942; AllianceGenome:HGNC:2234
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: epsilon-COP
Summary: The product of this gene is an epsilon subunit of coatomer protein complex. Coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles. It is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. Coatomer complex consists of at least the alpha, beta, beta', gamma, delta, epsilon and zeta subunits. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in testis (RPKM 53.6), bone marrow (RPKM 48.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.11

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (18899514..18919387, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (19035138..19055145, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (19010323..19030196, complement)

Chromosome 19 - NC_000019.10 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 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?

Observational study of gene-disease association. (HuGE Navigator)
Title: New genetic associations detected in a host response study to hepatitis B vaccine.
Data show that iPLA(1)gamma is a novel membrane transport factor that contributes to a specific Golgi-to-ER retrograde pathway distinct from presently characterized COPI- and Rab6-dependent pathways.
Title: Intracellular phospholipase A1gamma (iPLA1gamma) is a novel factor involved in coat protein complex I- and Rab6-independent retrograde transport between the endoplasmic reticulum and the Golgi complex.
Ubiquitylation of epsilon-COP by PIRH2; overexpression of the wild type of PIRH2 in prostate cancer cells causes downregulation of the secretion of prostate-specific antigen.
Title: Ubiquitylation of epsilon-COP by PIRH2 and regulation of the secretion of PSA.

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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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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 intra-Golgi vesicle-mediated transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in intra-Golgi vesicle-mediated transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein localization to axon	IEA Inferred from Electronic Annotation more info
involved_in protein transport	IEA Inferred from Electronic Annotation more info
involved_in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	IEA Inferred from Electronic Annotation 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
located_in Golgi membrane	TAS Traceable Author Statement more info
located_in cytosol	TAS Traceable Author Statement more info
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in transport vesicle	TAS Traceable Author Statement more info

General protein information

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Preferred Names: coatomer subunit epsilon

Names: coatomer epsilon subunit; coatomer protein complex subunit epsilon; epsilon 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_001330469.2 → NP_001317398.1 coatomer subunit epsilon isoform d

Status: REVIEWED

Description

Transcript Variant: This variant (4) uses an alternate exon in the central coding region compared to isoform a. The encoded isoform (d) is longer than isoform a.

Source sequence(s)

AC002985, AC005197

Consensus CDS

CCDS82321.1

UniProtKB/TrEMBL

M0QXB4, Q53HJ6

Related

ENSP00000469035.1, ENST00000600932.5

Conserved Domains (2) summary

pfam04733
Location:17 → 328

Coatomer_E; Coatomer epsilon subunit

sd00006
Location:238 → 268

TPR; TPR repeat [structural motif]
NM_007263.4 → NP_009194.2 coatomer subunit epsilon isoform a

See identical proteins and their annotated locations for NP_009194.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes isoform a.

Source sequence(s)

AI680336, BI520280

Consensus CDS

CCDS12387.1

UniProtKB/Swiss-Prot

A6NE29, A6NKA3, O14579, O76097, Q6IBB8, Q9UGP6

UniProtKB/TrEMBL

Q53HJ6

Related

ENSP00000262812.3, ENST00000262812.9

Conserved Domains (2) summary

pfam04733
Location:17 → 305

Coatomer_E; Coatomer epsilon subunit

sd00006
Location:215 → 245

TPR; TPR repeat [structural motif]
NM_199442.2 → NP_955474.1 coatomer subunit epsilon isoform b

See identical proteins and their annotated locations for NP_955474.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an in-frame segment of the coding region, compared to variant 1. It encodes a shorter isoform (b), that is missing an internal segment compared to isoform a.

Source sequence(s)

AI680336, BI520280

Consensus CDS

CCDS12388.1

UniProtKB/TrEMBL

Q53HJ6

Related

ENSP00000345674.3, ENST00000351079.8

Conserved Domains (2) summary

sd00006
Location:164 → 194

TPR; TPR repeat [structural motif]

pfam04733
Location:17 → 254

Coatomer_E; Coatomer epsilon subunit
NM_199444.2 → NP_955476.1 coatomer subunit epsilon isoform c

See identical proteins and their annotated locations for NP_955476.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an in-frame segment of the coding region, compared to variant 1. It encodes a shorter isoform (c), that is missing an internal segment compared to isoform a.

Source sequence(s)

AI680336, BI520280

Consensus CDS

CCDS12389.1

UniProtKB/TrEMBL

Q53HJ6

Related

ENSP00000343134.3, ENST00000349893.8

Conserved Domains (1) summary

pfam04733
Location:17 → 253

Coatomer_E; Coatomer epsilon subunit

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

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

18899514..18919387 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047438119.1 → XP_047294075.1 coatomer subunit epsilon isoform X2
XM_011527656.2 → XP_011525958.1 coatomer subunit epsilon isoform X1

UniProtKB/TrEMBL

Q53HJ6

Conserved Domains (1) summary

pfam04733
Location:17 → 276

Coatomer_E; Coatomer epsilon subunit

Alternate T2T-CHM13v2.0

Genomic

NC_060943.1 Alternate T2T-CHM13v2.0

Range

19035138..19055145 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054319693.1 → XP_054175668.1 coatomer subunit epsilon isoform X2
XM_054319692.1 → XP_054175667.1 coatomer subunit epsilon isoform X1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_025088.1: Suppressed sequence

Description

NM_025088.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.