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    GCC1 GRIP and coiled-coil domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 79571, updated on 28-Oct-2024

    Summary

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    Official Symbol
    GCC1provided by HGNC
    Official Full Name
    GRIP and coiled-coil domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:19095
    See related
    Ensembl:ENSG00000179562 MIM:607418; AllianceGenome:HGNC:19095
    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
    GCC1P; GCC88
    Summary
    The protein encoded by this gene is a peripheral membrane protein. It is sensitive to brefeldin A. This encoded protein contains a GRIP domain which is thought to be used in targeting. It may play a role in the organization of trans-Golgi network subcompartment involved with membrane transport. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in testis (RPKM 9.0), bone marrow (RPKM 5.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GCC1 in Genome Data Viewer
    Location:
    7q32.1
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (127580628..127585596, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (128892307..128897275, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (127220682..127225650, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18591 Neighboring gene zinc finger protein 800 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:127032217-127032717 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18593 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26584 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26585 Neighboring gene uncharacterized LOC105375490 Neighboring gene long intergenic non-protein coding RNA 3012 Neighboring gene VISTA enhancer hs1308 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:127223080-127224279 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:127224999-127225998 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:127227286-127227912 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr7:127227913-127228538 and GRCh37_chr7:127228539-127229165 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:127229166-127229791 Neighboring gene uncharacterized LOC105375489 Neighboring gene ARF GTPase 5 Neighboring gene fascin actin-bundling protein 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. The golgin GCC88 is required for efficient retrograde transport of cargo from the early endosomes to the trans-Golgi network. Lieu ZZ, et al. Mol Biol Cell, 2007 Dec. PMID 17914056, Free PMC Article
    2. A role of GCC88 in the retrograde transport of CI-M6PR and the maintenance of lysosomal activity. Cui Y, et al. Cell Biol Int, 2019 Nov. PMID 30791178
    3. A novel Golgi-localisation domain shared by a class of coiled-coil peripheral membrane proteins. Kjer-Nielsen L, et al. Curr Biol, 1999 Apr 8. PMID 10209125
    4. GRIP domain-mediated targeting of two new coiled-coil proteins, GCC88 and GCC185, to subcompartments of the trans-Golgi network. Luke MR, et al. J Biol Chem, 2003 Feb 7. PMID 12446665
    5. Genome-wide association study of medication adherence in chronic diseases in the korean population. Seo I, et al. Genomics Inform, 2014 Sep. PMID 25317111, Free PMC Article

    See all (53) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Golgi-58K can re-localize to late endosomes upon cellular uptake of PS-ASOs and facilitates endosomal release of ASOs.
      Title: Golgi-58K can re-localize to late endosomes upon cellular uptake of PS-ASOs and facilitates endosomal release of ASOs.
    2. Spatial proteomics defines the content of trafficking vesicles captured by golgin tethers.
      Title: Spatial proteomics defines the content of trafficking vesicles captured by golgin tethers.
    3. The authors show that GCC88 is required for the maintenance of the trans-Golgi network (TGN) structure and the efficient endosome-to-TGN trafficking of the cation-independent mannose 6-phosphate receptor (CI-M6PR).
      Title: A role of GCC88 in the retrograde transport of CI-M6PR and the maintenance of lysosomal activity.
    4. the long isoform of intersectin-1 (ITSN-1), a guanine nucleotide exchange factor for Cdc42, is identified as a novel Golgi component and an interaction partner of GCC88 responsible for mediating the actin-dependent dispersal of the Golgi ribbon.
      Title: Intersectin-1 interacts with the golgin GCC88 to couple the actin network and Golgi architecture.
    5. identified an essential role for GCC88 in the localization of TGN fusion machinery for transport from early endosomes to the trans-Golgi network
      Title: The golgin GCC88 is required for efficient retrograde transport of cargo from the early endosomes to the trans-Golgi network.
    6. The ability of the four mammalian GRIP domain proteins, p230, golgin-97, GCC88, and GCC185 to interact is reported.
      Title: The trans-Golgi network GRIP-domain proteins form alpha-helical homodimers.
    7. targeting to subcompartments of trans-Golgi network by GRIP domain
      Title: GRIP domain-mediated targeting of two new coiled-coil proteins, GCC88 and GCC185, to subcompartments of the trans-Golgi network.
    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
    Genome-wide association study of medication adherence in chronic diseases in the korean population.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ22035, MGC20706

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables small GTPase binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in Golgi trans cisterna ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    GRIP and coiled-coil domain-containing protein 1
    Names
    golgi coiled-coil 1
    golgi coiled-coil protein 1
    peripheral membrane Golgi 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_024523.6 → NP_078799.2  GRIP and coiled-coil domain-containing protein 1

      See identical proteins and their annotated locations for NP_078799.2

      Status: REVIEWED

      Source sequence(s)
      AC000357
      Consensus CDS
      CCDS5796.1
      UniProtKB/Swiss-Prot
      Q96CN9, Q9H6N7
      UniProtKB/TrEMBL
      A4D0Z4, B2RDB1
      Related
      ENSP00000318821.2, ENST00000321407.3
      Conserved Domains (3) summary
      pfam01465
      Location:717 → 760
      GRIP; GRIP domain
      cl25732
      Location:170 → 587
      SMC_N; RecF/RecN/SMC N terminal domain
      cl26472
      Location:482 → 703
      DUF3084; Protein of unknown function (DUF3084)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      127580628..127585596 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      128892307..128897275 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96CN9.1 GenPept UniProtKB/Swiss-Prot:Q96CN9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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