COPZ1 COPI coat complex subunit zeta 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: COPZ1provided by HGNC
Official Full Name: COPI coat complex subunit zeta 1provided by HGNC
Primary source: HGNC:HGNC:2243
See related: Ensembl:ENSG00000111481 MIM:615472; AllianceGenome:HGNC:2243
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: COPZ; CGI-120; HSPC181; zeta-COP; zeta1-COP
Summary: This gene encodes a subunit of the cytoplasmic coatamer protein complex, which is involved in autophagy and intracellular protein trafficking. The coatomer protein complex is comprised of seven subunits and functions as the coat protein of coat protein complex (COP)I-vesicles. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
Expression: Ubiquitous expression in thyroid (RPKM 49.0), colon (RPKM 30.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q13.13

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (54325131..54351846)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (54291719..54318429)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (54718915..54745630)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Loss of COPZ1 induces NCOA4 mediated autophagy and ferroptosis in glioblastoma cell lines.
Title: Loss of COPZ1 induces NCOA4 mediated autophagy and ferroptosis in glioblastoma cell lines.
siRNA-mediated COPZ1 depletion causes abortive autophagy, endoplasmic reticulum stress, unfolded protein response and apoptosis in thyroid tumor cells.
Title: Targeting COPZ1 non-oncogene addiction counteracts the viability of thyroid tumor cells.
The knockdown of COPZ1, but not of COPZ2 encoding isoform coatomer protein complex zeta2, caused Golgi apparatus collapse, blocked autophagy, and induced apoptosis in both proliferating and nondividing tumor cells.
Title: Tumor-specific silencing of COPZ2 gene encoding coatomer protein complex subunit ζ 2 renders tumor cells dependent on its paralogous gene COPZ1.

Submit: New GeneRIF Correction

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

EBI GWAS Catalog

Description
A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects. EBI GWAS Catalog EBI GWAS CatalogPubMed
GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children. EBI GWAS Catalog EBI GWAS CatalogPubMed
New gene functions in megakaryopoiesis and platelet formation. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	Tandem affinity purification and mass spectrometry analysis identify subunit zeta 1 of coatomer protein complex (COPZ1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Gag-Pol	gag-pol	Tandem affinity purification and mass spectrometry analysis identify subunit zeta 1 of coatomer protein complex (COPZ1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Nef	nef	Tandem affinity purification and mass spectrometry analysis identify subunit zeta 1 of coatomer protein complex (COPZ1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Pr55(Gag)	gag	Tandem affinity purification and mass spectrometry analysis identify subunit zeta 1 of coatomer protein complex (COPZ1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-12593 (e-PCR)
- UniSTS:75539

D12S1927 (e-PCR)
- UniSTS:45077

A002C47 (e-PCR)
- UniSTS:43849

NIB1371 (e-PCR)
- UniSTS:60304

Bdya3g12 (e-PCR)
- UniSTS:89241

G19978 (e-PCR)
- UniSTS:12505

RH78595 (e-PCR)
- UniSTS:66298

Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in intra-Golgi vesicle-mediated transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in intra-Golgi vesicle-mediated transport	IDA Inferred from Direct Assay more info	PubMed
involved_in intra-Golgi vesicle-mediated transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in intracellular protein transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	IBA Inferred from Biological aspect of Ancestor more info
involved_in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of COPI vesicle coat	IBA Inferred from Biological aspect of Ancestor more info
part_of COPI vesicle coat	IDA Inferred from Direct Assay more info	PubMed
part_of COPI vesicle coat	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
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in transport vesicle	TAS Traceable Author Statement more info

General protein information

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Preferred Names: coatomer subunit zeta-1

Names: coatomer protein complex subunit zeta 1; coatomer protein complex, subunit zeta; zeta-1 COP; zeta-1-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_001271734.2 → NP_001258663.1 coatomer subunit zeta-1 isoform 2

See identical proteins and their annotated locations for NP_001258663.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an internal in-frame exon in the coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.

Source sequence(s)

AF151878, AK293377, CB127540

Consensus CDS

CCDS61138.1

UniProtKB/TrEMBL

Q53FU3

Related

ENSP00000410620.2, ENST00000455864.6

Conserved Domains (1) summary

cd14829
Location:7 → 122

Zeta-COP; zeta subunit of the F-COPI complex
NM_001271735.2 → NP_001258664.1 coatomer subunit zeta-1 isoform 3

See identical proteins and their annotated locations for NP_001258664.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate in-frame splice site and lacks an internal in-frame exon in the coding region, compared to variant 1. The encoded isoform (3) is shorter, compared to isoform 1.

Source sequence(s)

AF151878, CB127540, DA562746

Consensus CDS

CCDS61137.1

UniProtKB/TrEMBL

Q53FU3

Related

ENSP00000448444.1, ENST00000552362.5

Conserved Domains (1) summary

cd14829
Location:14 → 145

Zeta-COP; zeta subunit of the F-COPI complex
NM_001271736.2 → NP_001258665.1 coatomer subunit zeta-1 isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (4) uses an alternate in-frame splice site in the 5' coding region and uses a downstream start codon compared to variant 1. The encoded isoform (4) has a distinct and longer N-terminus, compared to isoform 1.

Source sequence(s)

AF151878, AK311027

Consensus CDS

CCDS61139.1

UniProtKB/TrEMBL

Q53FU3

Related

ENSP00000449270.1, ENST00000549043.5

Conserved Domains (1) summary

pfam01217
Location:20 → 161

Clat_adaptor_s; Clathrin adaptor complex small chain
NM_016057.3 → NP_057141.1 coatomer subunit zeta-1 isoform 1

See identical proteins and their annotated locations for NP_057141.1

Status: REVIEWED

Description

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

Source sequence(s)

AF151878

Consensus CDS

CCDS8877.1

UniProtKB/Swiss-Prot

B4DDX8, B4DHZ0, F8VS17, F8VWL5, P61923, Q549N6, Q9Y3C3

UniProtKB/TrEMBL

Q53FU3

Related

ENSP00000262061.2, ENST00000262061.7

Conserved Domains (1) summary

cd14829
Location:14 → 145

Zeta-COP; zeta subunit of the F-COPI complex

RNA

NR_073424.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AF151878, AK295325, CB127540