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

    Gene ID: 57120, updated on 17-Jun-2024

    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
    NEW
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    Genomic context

    See GOPC in Genome Data Viewer
    Location:
    6q22.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (117560269..117602511, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (118744505..118786752, complement)
    105.20220307 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 ATAC-STARR-seq lymphoblastoid silent region 17498 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17499 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25001 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25002 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25003 Neighboring gene discoidin, CUB and LCCL domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25004 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25006 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25005 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25007 Neighboring gene Sharpr-MPRA regulatory region 12404 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25008 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25009 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:117936764-117937504 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25010 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25011 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

    EBI GWAS Catalog

    Description
    Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 
    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

    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)

    NEW Try the new Transcript table

    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/TrEMBL
      T1WFC1
      Related
      ENSP00000052569.6, ENST00000052569.10
      Conserved Domains (2) summary
      PRK09039
      Location:45214
      PRK09039; peptidoglycan -binding protein
      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) ...
    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
      A6NM30, Q59FS4, Q969U8, Q9HD26
      UniProtKB/TrEMBL
      F5H1Y4, T1WEI3
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      117560269..117602511 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      118744505..118786752 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054355977.1XP_054211952.1  Golgi-associated PDZ and coiled-coil motif-containing protein isoform X1