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

Gene ID: 79571, updated on 7-Apr-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_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (127580628..127585596, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (128892307..128897275, complement)
105.20220307 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 ADP ribosylation factor 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
  • 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. 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
  2. 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
  3. Spatial proteomics defines the content of trafficking vesicles captured by golgin tethers. Shin JJH, et al. Nat Commun, 2020 Nov 25. PMID 33239640, Free PMC Article
  4. Intersectin-1 interacts with the golgin GCC88 to couple the actin network and Golgi architecture. Makhoul C, et al. Mol Biol Cell, 2019 Feb 1. PMID 30540523, Free PMC Article
  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 (51) 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_2023_10

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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