PACS1 phosphofurin acidic cluster sorting protein 1
Gene ID: 55690, updated on 28-Oct-2024Gene type: protein coding
Also known as: SHMS; MRD17
- See all available tests in GTR for this gene
- Go to complete Gene record for PACS1
- Go to Variation Viewer for PACS1 variants
Summary
This gene encodes a protein with a putative role in the localization of trans-Golgi network (TGN) membrane proteins. Mouse and rat homologs have been identified and studies of the homologous rat protein indicate a role in directing TGN localization of furin by binding to the protease's phosphorylated cytosolic domain. In addition, the human protein plays a role in HIV-1 Nef-mediated downregulation of cell surface MHC-I molecules to the TGN, thereby enabling HIV-1 to escape immune surveillance. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity. GeneReviews: Not available | |
Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. GeneReviews: Not available | |
Schuurs-Hoeijmakers syndrome | See labs |
Copy number response
Description |
---|
Copy number response Triplosensitivity No evidence available (Last evaluated 2021-12-14) ClinGen Genome Curation PageHaploinsufficency |
Genomic context
- Location:
- 11q13.1-q13.2
- Sequence:
- Chromosome: 11; NC_000011.10 (66070272..66244744)
- Total number of exons:
- 26
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for PACS1 variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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