PACS1
Phosphofurin acidic cluster sorting protein 1
Also known as: FLJ10209, KIAA1175, PACS1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q6VY07
- Gene
- PACS1
- Ensembl
- ENSG00000175115
- Chromosome
- 11
- Canonical length
- 963 aa
- Protein class
- Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Vesicles,Plasma membrane
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
963 residues, UniProt reviewed canonical sequence.
>Q6VY07|PACS1
1 MAERGGAGGG PGGAGGGSGQ RGSGVAQSPQ QPPPQQQQQQ PPQQPTPPKL AQATSSSSST
61 SAAAASSSSS STSTSMAVAV ASGSAPPGGP GPGRTPAPVQ MNLYATWEVD RSSSSCVPRL
121 FSLTLKKLVM LKEMDKDLNS VVIAVKLQGS KRILRSNEIV LPASGLVETE LQLTFSLQYP
181 HFLKRDANKL QIMLQRRKRY KNRTILGYKT LAVGLINMAE VMQHPNEGAL VLGLHSNVKD
241 VSVPVAEIKI YSLSSQPIDH EGIKSKLSDR SPDIDNYSEE EEESFSSEQE GSDDPLHGQD
301 LFYEDEDLRK VKKTRRKLTS TSAITRQPNI KQKFVALLKR FKVSDEVGFG LEHVSREQIR
361 EVEEDLDELY DSLEMYNPSD SGPEMEETES ILSTPKPKLK PFFEGMSQSS SQTEIGSLNS
421 KGSLGKDTTS PMELAALEKI KSTWIKNQDD SLTETDTLEI TDQDMFGDAS TSLVVPEKVK
481 TPMKSSKTDL QGSASPSKVE GVHTPRQKRS TPLKERQLSK PLSERTNSSD SERSPDLGHS
541 TQIPRKVVYD QLNQILVSDA ALPENVILVN TTDWQGQYVA ELLQDQRKPV VCTCSTVEVQ
601 AVLSALLTRI QRYCNCNSSM PRPVKVAAVG GQSYLSSILR FFVKSLANKT SDWLGYMRFL
661 IIPLGSHPVA KYLGSVDSKY SSSFLDSGWR DLFSRSEPPV SEQLDVAGRV MQYVNGAATT
721 HQLPVAEAML TCRHKFPDED SYQKFIPFIG VVKVGLVEDS PSTAGDGDDS PVVSLTVPST
781 SPPSSSGLSR DATATPPSSP SMSSALAIVG SPNSPYGDVI GLQVDYWLGH PGERRREGDK
841 RDASSKNTLK SVFRSVQVSR LPHSGEAQLS GTMAMTVVTK EKNKKVPTIF LSKKPREKEV
901 DSKSQVIEGI SRLICSAKQQ QTMLRVSIDG VEWSDIKFFQ LAAQWPTHVK HFPVGLFSGS
961 KATLocalizationUniProt · AlphaFold · HPA
Whether an antibody against PACS1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.49
- Highest tissue expression
- 87 nTPM
Expression across tissuesHPA
Tissue
- salivary gland: 87 nTPM
- cerebellum: 47 nTPM
- lymph node: 47 nTPM
- tonsil: 43 nTPM
- heart muscle: 42 nTPM
- blood vessel: 41 nTPM
Single-cell type
- salivary acinar cells: 979 nCPM
- neutrophils: 875 nCPM
- retinal horizontal cells: 849 nCPM
- b-cells: 581 nCPM
- lacrimal acinar cells: 548 nCPM
- rod photoreceptor cells: 492 nCPM
Immune cell
- neutrophil: 7.5 nTPM
- naive B-cell: 4.8 nTPM
- T-reg: 4 nTPM
- basophil: 3.7 nTPM
- naive CD4 T-cell: 3.5 nTPM
- gdT-cell: 3.4 nTPM
Brain region
- cerebellum: 92 nTPM
- basal ganglia: 92 nTPM
- cerebral cortex: 89 nTPM
- hippocampal formation: 89 nTPM
- amygdala: 88 nTPM
- midbrain: 78 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about PACS1.
Disease | AllUniProt
Conditions PACS1 is implicated in, by any mechanism.
- Schuurs-Hoeijmakers syndrome (SHMS) MIM:615009
Disease | GeneticClinVar
6 pathogenic / likely-pathogenic of 1,034 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Schuurs-Hoeijmakers syndrome
- Intellectual disability
- Inborn genetic diseases
- PACS1-related syndrome
- Global developmental delay
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.19
- gnomAD pLI
- 1
- gnomAD missense Z
- 3.71
- DepMap mean gene effect
- -0.14
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- lymphocyte homeostasis
- protein localization to Golgi apparatus
- protein localization to plasma membrane
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of PACS1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads PACS1 as an antibody target. Whether an autoantibody or antibody against PACS1 could matter depends on whether native PACS1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
PACS1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label PACS1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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