| PACS1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | PACS1 , MRD17, phosphofurin acidic cluster sorting protein 1, SHMS | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 607492 MGI: 1277113 HomoloGene: 9970 GeneCards: PACS1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Phosphofurin acidic cluster sorting protein 1, also known as PACS-1, is a protein that in humans is encoded by the PACS1 gene. [5] [6] [7]
The PACS-1 protein has 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. [7] [8]
A de novo mutation c.607C>T in the PACS1 gene has been shown to result in a syndromic phenotype (colloquially called PACS1 Syndrome) that is characterized by global developmental delay, intellectual disability, and specific facial features. [9] [10]
The first two cases were identified in early 2011 by doctors in the Netherlands. [9] As of late 2014, there were 20 cases identified worldwide. [11]
Diagnosis is typically done using full genome or exome sequencing. [12] There are likely several more cases that will eventually be reported as knowledge of the mutation spreads and testing becomes more accessible.
Individuals with the mutation have been reported to have similar facial features, such as:
Other common traits reported by care givers of affected individuals are:
In combination, these traits affect walking, talking, feeding, and learning skills. No impact on life expectancy has been found. As with many developmental disabilities, there is no "cure".
In order to improve quality of life and enhance life skills of affected individuals, care givers have found a number of tools and strategies. It is important to note that all of these may not be applicable to a particular individual, and reported effectiveness has varied. It is recommended to consult with a physician prior to initiating any form of treatment. [13]
In molecular biology, CD4 is a glycoprotein that serves as a co-receptor for the T-cell receptor (TCR). CD4 is found on the surface of immune cells such as helper T cells, monocytes, macrophages, and dendritic cells. It was discovered in the late 1970s and was originally known as leu-3 and T4 before being named CD4 in 1984. In humans, the CD4 protein is encoded by the CD4 gene.
Furin is a protease, a proteolytic enzyme activated by substrate presentation that in humans and other animals is encoded by the FURIN gene. Some proteins are inactive when they are first synthesized, and must have sections removed in order to become active. Furin cleaves these sections and activates the proteins. It was named furin because it was in the upstream region of an oncogene known as FES. The gene was known as FUR and therefore the protein was named furin. Furin is also known as PACE. A member of family S8, furin is a subtilisin-like peptidase.
HLA-C belongs to the MHC class I heavy chain receptors. The C receptor is a heterodimer consisting of a HLA-C mature gene product and β2-microglobulin. The mature C chain is anchored in the membrane. MHC Class I molecules, like HLA-C, are expressed in nearly all cells, and present small peptides to the immune system which surveys for non-self peptides.
Insulin-like growth factor 2 receptor (IGF2R), also called the cation-independent mannose-6-phosphate receptor (CI-MPR) is a protein that in humans is encoded by the IGF2R gene. IGF2R is a multifunctional protein receptor that binds insulin-like growth factor 2 (IGF2) at the cell surface and mannose-6-phosphate (M6P)-tagged proteins in the trans-Golgi network.
Nuclear factor of activated T-cells, cytoplasmic 1 is a protein that in humans is encoded by the NFATC1 gene.
ADP-ribosylation factor-binding protein GGA1 is a protein that in humans is encoded by the GGA1 gene.
Coatomer subunit beta is a protein that in humans is encoded by the COPB1 gene.
Golgin subfamily A member 2, also known as 130 kDa cis-Golgi matrix protein 1 (GM130) is a protein that in humans is encoded by the GOLGA2 gene.
AP-1 complex subunit mu-1 is a protein that in humans is encoded by the AP1M1 gene.
AP-1 complex subunit gamma-1 is a protein that in humans is encoded by the AP1G1 gene.
HLA class I histocompatibility antigen, alpha chain F is a protein that in humans is encoded by the HLA-F gene. It is an empty intracellular molecule that encodes a non-classical heavy chain anchored to the membrane and forming a heterodimer with a β-2 microglobulin light chain. It belongs to the HLA class I heavy chain paralogues that separate from most of the HLA heavy chains. HLA-F is localized in the endoplasmic reticulum and Golgi apparatus, and is also unique in the sense that it exhibits few polymorphisms in the human population relative to the other HLA genes; however, there have been found different isoforms from numerous transcript variants found for the HLA-F gene. Its pathways include IFN-gamma signaling and CDK-mediated phosphorylation and removal of the Saccharomycescerevisiae Cdc6 protein, which is crucial for functional DNA replication.
AP-1 complex subunit beta-1 is a protein that in humans is encoded by the AP1B1 gene.
AP-2 complex subunit beta is a protein that in humans is encoded by the AP2B1 gene.
AP-3 complex subunit delta-1 is a protein that in humans is encoded by the AP3D1 gene.
AP-1 complex subunit sigma-1A is a protein that in humans is encoded by the AP1S1 gene.
AP-1 complex subunit gamma-like 2 is a protein that in humans is encoded by the AP1G2 gene.
AP-3 complex subunit mu-1 is a protein that in humans is encoded by the AP3M1 gene.
AP-1 complex subunit sigma-2 is a protein that in humans is encoded by the AP1S2 gene.
Syntaxin-16 is a protein that in humans is encoded by the STX16 gene.
Nef is a small 27-35 kDa myristoylated protein encoded by primate lentiviruses. These include Human Immunodeficiency Viruses and Simian Immunodeficiency Virus (SIV). Nef localizes primarily to the cytoplasm but also partially to the Plasma membrane (PM) and is one of many pathogen-expressed proteins, known as virulence factors, which function to manipulate the host's cellular machinery and thus allow infection, survival or replication of the pathogen. Nef stands for "Negative Factor" and although it is often considered indispensable for HIV-1 replication, in infected hosts the viral protein markedly elevates viral titers.
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