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

Gene ID: 57120, updated on 2-Mar-2021

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
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
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Genomic context

See GOPC in Genome Data Viewer
Location:
6q22.1
Exon count:
10
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (117560269..117602520, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (117881432..117923674, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene RAP1B pseudogene 3 Neighboring gene RNA, U6 small nuclear 253, pseudogene Neighboring gene discoidin, CUB and LCCL domain containing 1 Neighboring gene nephrocan, pseudogene Neighboring gene uncharacterized LOC101927919

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ion channel binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ion channel binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
Golgi to plasma membrane transport NAS
Non-traceable Author Statement
more info
PubMed 
apical protein localization NAS
Non-traceable Author Statement
more info
PubMed 
cytoplasmic sequestering of CFTR protein IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasmic sequestering of CFTR protein IMP
Inferred from Mutant Phenotype
more info
PubMed 
endoplasmic reticulum to Golgi vesicle-mediated transport NAS
Non-traceable Author Statement
more info
PubMed 
negative regulation of anion channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of protein localization to cell surface IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of protein localization to cell surface IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
Golgi-associated vesicle membrane TAS
Traceable Author Statement
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
dendrite IEA
Inferred from Electronic Annotation
more info
 
lysosomal membrane TAS
Traceable Author Statement
more info
 
membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane NAS
Non-traceable Author Statement
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
postsynaptic density IEA
Inferred from Electronic Annotation
more info
 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 
trans-Golgi network transport vesicle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
trans-Golgi network transport vesicle IDA
Inferred from Direct Assay
more info
PubMed 
trans-Golgi network transport vesicle NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

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)

  1. NM_001017408.3NP_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/Swiss-Prot
    Q9HD26
    Related
    ENSP00000052569.6, ENST00000052569.10
    Conserved Domains (2) summary
    cd00992
    Location:278360
    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) ...
    cl28146
    Location:45214
    PRK09039; hypothetical protein; Validated
  2. NM_020399.4NP_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
    Q9HD26
    Related
    ENSP00000357484.2, ENST00000368498.7
    Conserved Domains (2) summary
    cd00992
    Location:286368
    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:166199
    bZIP_2; Basic region leucine zipper

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210226

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    117560269..117602520 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024446496.1XP_024302264.1  Golgi-associated PDZ and coiled-coil motif-containing protein isoform X1

    Conserved Domains (2) summary
    cd00992
    Location:117199
    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) ...
    cd14686
    Location:231
    bZIP; Basic leucine zipper (bZIP) domain of bZIP transcription factors: a DNA-binding and dimerization domain
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