GOPC golgi associated PDZ and coiled-coil motif containing [Homo sapiens (human)] - Gene

Summary

Official Symbol: GOPCprovided by HGNC
Official Full Name: golgi associated PDZ and coiled-coil motif containingprovided by HGNC
Primary source: HGNC:HGNC:17643
See related: Ensembl:ENSG00000047932 MIM:606845; AllianceGenome:HGNC:17643
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: CAL; FIG; PIST; GOPC1; dJ94G16.2
Summary: This gene encodes a Golgi protein with a PDZ domain. The PDZ domain is globular and proteins which contain them bind other proteins through short motifs near the C-termini. Mice which are deficient in the orthologous protein have globozoospermia and are infertile. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
Expression: Ubiquitous expression in thyroid (RPKM 17.5), endometrium (RPKM 15.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6q22.1

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (117560269..117602511, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (118744505..118786752, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (117881432..117923674, complement)

Chromosome 6 - NC_000006.12 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 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?

The ARFRP1-dependent Golgi scaffolding protein GOPC is required for insulin secretion from pancreatic beta-cells.
Title: The ARFRP1-dependent Golgi scaffolding protein GOPC is required for insulin secretion from pancreatic β-cells.
GOPC-ROS1 Fusion Due to Microdeletion at 6q22 Is an Oncogenic Driver in a Subset of Pediatric Gliomas and Glioneuronal Tumors.
Title: GOPC-ROS1 Fusion Due to Microdeletion at 6q22 Is an Oncogenic Driver in a Subset of Pediatric Gliomas and Glioneuronal Tumors.
PIST, a Golgi-associated PDZ domain-containing protein, interacts with PCDH15 in the plasma membrane.
Title: Plasma Membrane Targeting of Protocadherin 15 Is Regulated by the Golgi-Associated Chaperone Protein PIST.
CAL can regulate the anterograde trafficking, the internalization as well as the signaling of CRFR1 via modulating the post-translational modifications that the receptor undergoes at the Golgi apparatus.
Title: Role of cystic fibrosis transmembrane conductance regulator-associated ligand (CAL) in regulating the trafficking and signaling of corticotropin-releasing factor receptor 1.
CAL overexpression retards B2AR expression in Golgi apparatus and reduces the receptor expression in the plasma membrane.
Title: Regulation of β2-adrenergic receptor cell surface expression by interaction with cystic fibrosis transmembrane conductance regulator-associated ligand (CAL).
Six out of 65 (9%) BTC patients were positive for the FIG-ROS1 fusion, comprising two out of 14 (14%) gallbladder carcinoma (GBC) patients and four out of 25 (16%) extrahepatic cholangiocarcinoma (ECC) patients.
Title: Screening for the FIG-ROS1 fusion in biliary tract carcinomas by nested PCR.
Our data suggest that PIST contributes to the fine-tuning of b1AR sorting both during biosynthetic and postendocytic trafficking
Title: The golgi-associated PDZ domain protein PIST/GOPC stabilizes the β1-adrenergic receptor in intracellular compartments after internalization.
None of 268 gliomas analysed showed the FIG-ROS1(L) rearrangement.
Title: Lack of GOPC-ROS1 (FIG-ROS1) rearrangement in adult human gliomas.
Stereochemical preferences modulate affinity and selectivity among CAL PDZ domain protein variants that bind CFTR.
Title: Stereochemical preferences modulate affinity and selectivity among five PDZ domains that bind CFTR: comparative structural and sequence analyses.
FIG-ROS fusion protein, which is found in a subset of intrahepatic cholangiocarcinoma patients, accelerates cholangiocarcinogenesis.
Title: Mouse model of intrahepatic cholangiocarcinoma validates FIG-ROS as a potent fusion oncogene and therapeutic target.

Submit: New GeneRIF Correction See all GeneRIFs (23)

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
Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis. 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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G20471 (e-PCR)
- UniSTS:17253

A005S47 (e-PCR)
- UniSTS:17254

RH47666 (e-PCR)
- UniSTS:24465

HSC1FH112 (e-PCR)
- UniSTS:3992

G59552 (e-PCR)
- UniSTS:136856

RH46698 (e-PCR)
- UniSTS:6087

RH68126 (e-PCR)
- UniSTS:33249

AL022535 (e-PCR)
- UniSTS:54006

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables molecular sequestering activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transmembrane transporter binding	IBA Inferred from Biological aspect of Ancestor more info
enables transmembrane transporter binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Golgi to plasma membrane transport	NAS Non-traceable Author Statement more info	PubMed
involved_in apical protein localization	NAS Non-traceable Author Statement more info	PubMed
involved_in endoplasmic reticulum to Golgi vesicle-mediated transport	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of anion channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of protein localization to cell surface	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of protein localization to cell surface	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi membrane	IEA Inferred from Electronic Annotation more info
located_in Golgi-associated vesicle membrane	TAS Traceable Author Statement more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in dendrite	IEA Inferred from Electronic Annotation more info
located_in lysosomal membrane	TAS Traceable Author Statement more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	NAS Non-traceable Author Statement more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in postsynaptic density	IEA Inferred from Electronic Annotation more info
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed
is_active_in trans-Golgi network transport vesicle	IBA Inferred from Biological aspect of Ancestor more info
located_in trans-Golgi network transport vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in trans-Golgi network transport vesicle	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: Golgi-associated PDZ and coiled-coil motif-containing protein

Names: CFTR-associated ligand; PDZ protein interacting specifically with TC10; PDZ/coiled-coil domain binding partner for the rho-family GTPase TC10; dJ94G16.2 PIST; fused in glioblastoma; golgi-associated PDZ and coiled-coil motif containing 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_001017408.3 → NP_001017408.1 Golgi-associated PDZ and coiled-coil motif-containing protein isoform b

See identical proteins and their annotated locations for NP_001017408.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.

Source sequence(s)

AY033606, BC009553, DA109449, Z85999

Consensus CDS

CCDS34523.1

UniProtKB/TrEMBL

T1WFC1

Related

ENSP00000052569.6, ENST00000052569.10

Conserved Domains (2) summary

PRK09039
Location:45 → 214

PRK09039; peptidoglycan -binding protein

cd00992
Location:278 → 360

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...
NM_020399.4 → NP_065132.1 Golgi-associated PDZ and coiled-coil motif-containing protein isoform a

See identical proteins and their annotated locations for NP_065132.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).

Source sequence(s)

AF287894, AY033606, BX419592, DA109449, Z85999

Consensus CDS

CCDS5117.1

UniProtKB/Swiss-Prot

A6NM30, Q59FS4, Q969U8, Q9HD26

UniProtKB/TrEMBL

F5H1Y4, T1WEI3

Related

ENSP00000357484.2, ENST00000368498.7

Conserved Domains (2) summary

cd00992
Location:286 → 368

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

pfam07716
Location:166 → 199

bZIP_2; Basic region leucine zipper