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Aliases for GOPC Gene

Aliases for GOPC Gene

  • Golgi Associated PDZ And Coiled-Coil Motif Containing 2 3 5
  • PDZ Protein Interacting Specifically With TC10 3 4
  • CFTR-Associated Ligand 3 4
  • Fused In Glioblastoma 3 4
  • PIST 3 4
  • CAL 3 4
  • FIG 3 4
  • PDZ/Coiled-Coil Domain Binding Partner For The Rho-Family GTPase TC10 3
  • Golgi-Associated PDZ And Coiled-Coil Motif-Containing Protein 3
  • Golgi-Associated PDZ And Coiled-Coil Motif Containing Protein 3
  • DJ94G16.2 PIST 3
  • DJ94G16.2 3
  • GOPC1 3

External Ids for GOPC Gene

Previous GeneCards Identifiers for GOPC Gene

  • GC01P9W0083
  • GC06M117927
  • GC06M117929
  • GC06M117988
  • GC06M117639
  • GC06M115462
  • GC06M117318

Summaries for GOPC Gene

Entrez Gene Summary for GOPC Gene

  • 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]

GeneCards Summary for GOPC Gene

GOPC (Golgi Associated PDZ And Coiled-Coil Motif Containing) is a Protein Coding gene. Diseases associated with GOPC include Spermatogenic Failure 6 and Cystic Fibrosis. Among its related pathways are Cytoskeletal Signaling and wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF). Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and ion channel binding. An important paralog of this gene is ENSG00000282218.

UniProtKB/Swiss-Prot for GOPC Gene

  • Plays a role in intracellular protein trafficking and degradation. May regulate CFTR chloride currents and acid-induced ASIC3 currents by modulating cell surface expression of both channels. May also regulate the intracellular trafficking of the ADR1B receptor. May play a role in autophagy. Overexpression results in CFTR intracellular retention and degradation in the lysosomes.

Gene Wiki entry for GOPC Gene

Additional gene information for GOPC Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GOPC Gene

Genomics for GOPC Gene

GeneHancer (GH) Regulatory Elements for GOPC Gene

Promoters and enhancers for GOPC Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J117599 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 662 +0.7 715 4.8 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF213 ZNF143 ZNF548 SP3 NFYC GOPC NEPNP NUS1 DCBLD1 ROS1 GC06M117575
GH06J117674 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 650.2 -74.0 -74008 4.2 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 NUS1 LOC101927919 GOPC PIR50962
GH06J117560 Promoter 0.5 EPDnew 650.3 +41.7 41654 0.1 GOPC DCBLD1 ENSG00000226181 RNU6-253P NUS1 ENSG00000282218 PIR41328
GH06J117547 Enhancer 1 Ensembl ENCODE 28.9 +53.2 53207 3.8 ELF3 PKNOX1 FOXA2 INSM2 SIN3A FEZF1 SLC30A9 SCRT2 EGR2 ZNF202 GOPC DCBLD1 ENSG00000226181 RNU6-253P ROS1 NUS1 LOC644303 PIR41328 ENSG00000282218
GH06J117919 Enhancer 1 Ensembl ENCODE 14.1 -317.5 -317523 1.2 PKNOX1 FOXA2 SIN3A ZNF335 GLIS2 EGR2 CEBPB REST ZEB2 ZFP69B GOPC SLC35F1 RPL29P4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GOPC on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GOPC gene promoter:
  • HNF-3beta
  • AML1a
  • HOXA5
  • COMP1
  • Pax-4a
  • Pax-5
  • Evi-1
  • YY1
  • Lhx3a

Genomic Locations for GOPC Gene

Genomic Locations for GOPC Gene
chr6:117,560,269-117,602,542
(GRCh38/hg38)
Size:
42,274 bases
Orientation:
Minus strand
chr6:117,639,374-117,923,705
(GRCh37/hg19)
Size:
284,332 bases
Orientation:
Minus strand

Genomic View for GOPC Gene

Genes around GOPC on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GOPC Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GOPC Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GOPC Gene

Proteins for GOPC Gene

  • Protein details for GOPC Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HD26-GOPC_HUMAN
    Recommended name:
    Golgi-associated PDZ and coiled-coil motif-containing protein
    Protein Accession:
    Q9HD26
    Secondary Accessions:
    • A6NM30
    • Q59FS4
    • Q969U8

    Protein attributes for GOPC Gene

    Size:
    462 amino acids
    Molecular mass:
    50520 Da
    Quaternary structure:
    • Homooligomer. Interacts with FZD5, FZD8, GRID2, BECN1, CSPG5 and CLCN3. May interact with CACNG2 (By similarity). Interacts with STX6, CFTR, ASIC3, GOLGA3, NLGN1 and RHOQ.
    SequenceCaution:
    • Sequence=BAD92622.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for GOPC Gene

    Alternative splice isoforms for GOPC Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GOPC Gene

Post-translational modifications for GOPC Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GOPC Gene

No data available for DME Specific Peptides for GOPC Gene

Domains & Families for GOPC Gene

Gene Families for GOPC Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for GOPC Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GOPC Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9HD26

UniProtKB/Swiss-Prot:

GOPC_HUMAN :
  • The PDZ domain mediates interactions with FZD5, FZD8, ASIC3, GRID2, CLCN3 (By similarity). Mediates also interaction with CFTR and ADRB1.
Domain:
  • The PDZ domain mediates interactions with FZD5, FZD8, ASIC3, GRID2, CLCN3 (By similarity). Mediates also interaction with CFTR and ADRB1.
  • The coiled-coil region probably mediates association to membranes, targeting to the Golgi, and interactions with GOLGA3, and STX6. May also mediate interaction with RHOQ (By similarity).
genes like me logo Genes that share domains with GOPC: view

Function for GOPC Gene

Molecular function for GOPC Gene

UniProtKB/Swiss-Prot Function:
Plays a role in intracellular protein trafficking and degradation. May regulate CFTR chloride currents and acid-induced ASIC3 currents by modulating cell surface expression of both channels. May also regulate the intracellular trafficking of the ADR1B receptor. May play a role in autophagy. Overexpression results in CFTR intracellular retention and degradation in the lysosomes.

Phenotypes From GWAS Catalog for GOPC Gene

Gene Ontology (GO) - Molecular Function for GOPC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 11384996
GO:0044325 ion channel binding IPI 11707463
genes like me logo Genes that share ontologies with GOPC: view
genes like me logo Genes that share phenotypes with GOPC: view

Animal Models for GOPC Gene

MGI Knock Outs for GOPC:
  • Gopc Gopc<tm1a(EUCOMM)Wtsi>
  • Gopc Gopc<tm1.1Tno>

Animal Model Products

miRNA for GOPC Gene

miRTarBase miRNAs that target GOPC

Clone Products

  • Addgene plasmids for GOPC

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GOPC Gene

Localization for GOPC Gene

Subcellular locations from UniProtKB/Swiss-Prot for GOPC Gene

Cytoplasm. Golgi apparatus membrane; Peripheral membrane protein. Golgi apparatus, trans-Golgi network membrane; Peripheral membrane protein. Cell junction, synapse. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density. Cell projection, dendrite. Note=Enriched in synaptosomal and postsynaptic densities (PSD) fractions. Expressed in cell bodies and dendrites of Purkinje cells. Localized at the trans-Golgi network (TGN) of spermatids and the medulla of round spermatides. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GOPC gene
Compartment Confidence
plasma membrane 5
lysosome 5
golgi apparatus 5
cytosol 4
nucleus 3
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (4)
  • Cytosol (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GOPC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005737 cytoplasm IEA,IDA 11707463
GO:0005765 lysosomal membrane TAS --
GO:0005794 Golgi apparatus IDA 11384996
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with GOPC: view

Pathways & Interactions for GOPC Gene

genes like me logo Genes that share pathways with GOPC: view

Pathways by source for GOPC Gene

SIGNOR curated interactions for GOPC Gene

Activates:
Inactivates:

Gene Ontology (GO) - Biological Process for GOPC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006888 ER to Golgi vesicle-mediated transport NAS 11707463
GO:0006893 Golgi to plasma membrane transport NAS 11707463
GO:0010360 negative regulation of anion channel activity IMP 11707463
GO:0015031 protein transport IEA --
GO:0043004 cytoplasmic sequestering of CFTR protein IMP 11707463
genes like me logo Genes that share ontologies with GOPC: view

Drugs & Compounds for GOPC Gene

(2) Additional Compounds for GOPC Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Chloride ion
  • Chloride(1-)
  • Chlorine anion
  • CL(-)
  • Bertholite
  • Chloor
16887-00-6
genes like me logo Genes that share compounds with GOPC: view

Transcripts for GOPC Gene

mRNA/cDNA for GOPC Gene

Unigene Clusters for GOPC Gene

Golgi-associated PDZ and coiled-coil motif containing:
Representative Sequences:

Clone Products

  • Addgene plasmids for GOPC

Alternative Splicing Database (ASD) splice patterns (SP) for GOPC Gene

No ASD Table

Relevant External Links for GOPC Gene

GeneLoc Exon Structure for
GOPC
ECgene alternative splicing isoforms for
GOPC

Expression for GOPC Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GOPC Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for GOPC Gene

This gene is overexpressed in Peripheral blood mononuclear cells (10.0), Skin (8.3), and Salivary gland (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GOPC Gene



Protein tissue co-expression partners for GOPC Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GOPC Gene:

GOPC

SOURCE GeneReport for Unigene cluster for GOPC Gene:

Hs.191539

mRNA Expression by UniProt/SwissProt for GOPC Gene:

Q9HD26-GOPC_HUMAN
Tissue specificity: Ubiquitously expressed.

Evidence on tissue expression from TISSUES for GOPC Gene

  • Nervous system(4.6)
  • Lung(4.2)
  • Pancreas(4.1)
genes like me logo Genes that share expression patterns with GOPC: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for GOPC Gene

Orthologs for GOPC Gene

This gene was present in the common ancestor of animals.

Orthologs for GOPC Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GOPC 34 33
  • 99.64 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GOPC 34 33
  • 92.25 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GOPC 34
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GOPC 34 33
  • 91.5 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GOPC 34
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gopc 16 34 33
  • 86.26 (n)
chicken
(Gallus gallus)
Aves GOPC 34 33
  • 80.52 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GOPC 34
  • 87 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii gopc 34 33
  • 71.26 (n)
OneToOne
-- 33
worm
(Caenorhabditis elegans)
Secernentea gopc-1 34 33
  • 57.1 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 48 (a)
OneToOne
Species where no ortholog for GOPC was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for GOPC Gene

ENSEMBL:
Gene Tree for GOPC (if available)
TreeFam:
Gene Tree for GOPC (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GOPC: view image

Paralogs for GOPC Gene

(4) SIMAP similar genes for GOPC Gene using alignment to 4 proteins:

  • GOPC_HUMAN
  • F5H1Y4_HUMAN
  • T1WEI3_HUMAN
  • T1WFC1_HUMAN
genes like me logo Genes that share paralogs with GOPC: view

Variants for GOPC Gene

Sequence variations from dbSNP and Humsavar for GOPC Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1000219789 -- 117,588,955(-) AG/AGATTGAG intron_variant
rs1000311768 -- 117,562,956(-) A/C 3_prime_UTR_variant
rs1000331348 -- 117,595,604(-) CCTCCTAGC/C intron_variant
rs1000523122 -- 117,581,202(-) A/AA intron_variant
rs1000561789 -- 117,602,545(-) C/T upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for GOPC Gene

Variant ID Type Subtype PubMed ID
nsv507357 OTHER sequence alteration 20534489

Variation tolerance for GOPC Gene

Residual Variation Intolerance Score: 32.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.81; 34.10% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GOPC Gene

Human Gene Mutation Database (HGMD)
GOPC
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GOPC

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GOPC Gene

Disorders for GOPC Gene

MalaCards: The human disease database

(3) MalaCards diseases for GOPC Gene - From: Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
spermatogenic failure 6
  • spgf6
cystic fibrosis
  • cf
glioblastoma
  • glioblastoma multiforme
- elite association - COSMIC cancer census association via MalaCards
Search GOPC in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GOPC_HUMAN
  • Note=A chromosomal aberration involving GOPC is found in a glioblastoma multiforme sample. An intra-chromosomal deletion del(6)(q21q21) is responsible for the formation of GOPC-ROS1 chimeric protein which has a constitutive receptor tyrosine kinase activity. {ECO:0000269 PubMed:12661006}.

Additional Disease Information for GOPC

genes like me logo Genes that share disorders with GOPC: view

No data available for Genatlas for GOPC Gene

Publications for GOPC Gene

  1. Fusion of FIG to the receptor tyrosine kinase ROS in a glioblastoma with an interstitial del(6)(q21q21). (PMID: 12661006) Charest A … Housman D (Genes, chromosomes & cancer 2003) 3 4 22 58
  2. A Golgi-associated PDZ domain protein modulates cystic fibrosis transmembrane regulator plasma membrane expression. (PMID: 11707463) Cheng J … Guggino WB (The Journal of biological chemistry 2002) 3 4 22 58
  3. PIST: a novel PDZ/coiled-coil domain binding partner for the rho-family GTPase TC10. (PMID: 11162552) Neudauer CL … Macara IG (Biochemical and biophysical research communications 2001) 2 3 4 58
  4. Solution structure of GOPC PDZ domain and its interaction with the C-terminal motif of neuroligin. (PMID: 16882988) Li X … Shi Y (Protein science : a publication of the Protein Society 2006) 3 4 58
  5. Regulation of cystic fibrosis transmembrane regulator trafficking and protein expression by a Rho family small GTPase TC10. (PMID: 15546864) Cheng J … Guggino WB (The Journal of biological chemistry 2005) 3 4 58

Products for GOPC Gene

Sources for GOPC Gene

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