| AP5B1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | AP5B1 , AP-5, PP1030, adaptor related protein complex 5 beta 1 subunit, adaptor related protein complex 5 subunit beta 1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 614367 MGI: 2685808 HomoloGene: 16299 GeneCards: AP5B1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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AP-5 complex subunit beta (AP5B1) is a protein that in humans is encoded by the AP5B1 gene. [5]
The protein encoded by this gene is one of two large subunits of the AP5 adaptor complex. [6] Variants in this gene have not been implicated in any disease but damaging variants in AP5Z1, the gene encoding the other large subunit in this complex, are associated with SPG48, a type of hereditary spastic paraplegia. [7] [8] In addition, damaging variants in the genes encoding two proteins that stably associate with the AP-5 adaptor complex are also associated with forms of hereditary spastic paraplegia - SPG11 with the disease of the same name [9] and ZFYVE26 with SPG15. [10]
GnomAD reports an observed v. expected ratio of predicted loss-of-function variants of 0.84 (0.58 - 1.24) for AP5B1. [11] [12]
Vesicular transport adaptor proteins are proteins involved in forming complexes that function in the trafficking of molecules from one subcellular location to another. These complexes concentrate the correct cargo molecules in vesicles that bud or extrude off of one organelle and travel to another location, where the cargo is delivered. While some of the details of how these adaptor proteins achieve their trafficking specificity has been worked out, there is still much to be learned.
The human gene SPAST codes for the microtubule-severing protein of the same name, commonly known as spastin.
Paraplegin is a protein that in humans is encoded by the SPG7 gene located on chromosome 16.
Spartin is a protein that in humans is encoded by the SPG20 gene.
Kinesin family member 5A is a protein that in humans is encoded by the KIF5A gene.
Non-imprinted in Prader-Willi/Angelman syndrome region protein 1 is a protein that in humans is encoded by the NIPA1 gene. This gene encodes a potential transmembrane protein which functions either as a receptor or transporter molecule, possibly as a magnesium transporter. This protein is thought to play a role in nervous system development and maintenance. Alternative splice variants have been described, but their biological nature has not been determined. Mutations in this gene have been associated with the human genetic disease autosomal dominant spastic paraplegia 6.
AP-4 complex subunit beta-1 is a protein that in humans is encoded by the AP4B1 gene.
AP-4 complex subunit mu-1 is a protein that in humans is encoded by the AP4M1 gene.
KIAA0196 is a human gene. The product is a protein that is a component of the WASH complex, which regulates actin assembly on intracellular vesicles. Mutations in KIAA0196 are implicated in some forms of hereditary spastic paraplegia.
Spatacsin is a protein that in humans is encoded by the SPG11 gene.
AP-4 complex subunit epsilon-1 is a protein that in humans is encoded by the AP4E1 gene.
AP-4 complex subunit sigma-1 is a protein that in humans is encoded by the AP4S1 gene.
Acetyl-coenzyme A transporter 1 also known as solute carrier family 33 member 1 (SLC33A1) is a protein that in humans is encoded by the SLC33A1 gene.
Margaret Scott Robinson FRS FMedSci is a British molecular cell biologist, a professor and researcher in the Cambridge Institute for Medical Research, at the University of Cambridge.
Zinc finger, FYVE domain containing 26 is a protein that in humans is encoded by the ZFYVE26 gene.
Zinc finger, FYVE domain containing 27 is a protein that in humans is encoded by the ZFYVE27 gene.
Spastic paraplegia 15 (SPG15) is a form of hereditary spastic paraplegia that commonly becomes apparent during childhood or adolescence. The disease is caused by mutations within the ZFYVE26 gene - also known as the SPG15 gene - and is passed down in an autosomal recessive manner.
AP-5 complex subunit zeta (AP5Z1) is a protein that in humans is encoded by the AP5Z1 gene.
AP-5 complex subunit mu (AP5M1), otherwise known as MUDENG (MuD), is a protein that is encoded by the AP5M1 gene. The AP5M1 gene was originally discovered when screening for genes which helped to promote death in Fas-mediated apoptosis. It is a highly conserved gene.
AP-5 complex subunit sigma (AP5S1) is a protein that in humans is encoded by the AP5S1 gene.
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