ABHD16A | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Aliases | ABHD16A , BAT5, D6S82E, NG26, PP199, abhydrolase domain containing 16A, hBAT5, abhydrolase domain containing 16A, phospholipase, SPG86 | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 142620; MGI: 99476; HomoloGene: 10904; GeneCards: ABHD16A; OMA:ABHD16A - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Protein BAT5 is a protein that in humans is encoded by the BAT5 gene. [5] [6] [7]
A cluster of genes, BAT1-BAT5, has been localized in the vicinity of the genes for TNF alpha and TNF beta. These genes are all within the human major histocompatibility complex class III region. The protein encoded by this gene is thought to be involved in some aspects of immunity. [7]
The human BAT5 protein (also known as ABHD16A) is 558 amino acid residues long. It was first identified in 1992 in the gene domains of TNF alpha and TNF beta. The BAT5 (ABHD 16A) proteins found in different species have varying lengths.
BAT5 is highly conserved in human, mice and other mammals. [8] It is found to be expressed in multiple different tissue cells. According to molecular evolutionary genetic analysis, in comparison of 13 mammalian species, it was denoted that the differences in amino acid sequence length are due to splicing in the post transcriptional processing of mRNA. [9]
Human Bat5 (ABHD16A) is located on chromosome 6. Mice Bat5 (ABHD 16A) is located between TNF and Heat shock protein near the Ck2b protein kinase gene. [9]
BAT5 in humans and mice has been found to be around 63 kDA.
In previous studies, the connection of malformations in the BAT5 (ABHD 16A) protein had yet to be linked to noticeable human diseases. Yet recent studies show that the BAT5 (ABHD 16A) has been linked to neurological, immune regulation, Kawasaki's disease and coronary artery disease. [9]
The BAT5 (ABHD 16A) protein has been found to encode a majority of phosphatidylserine (PS) lipase in the brain. PS lipase synthesizes lysophosphatidylserine which is an important signaling lipid that functions in the mammalian central nervous system. [10] According to a cohort study, relating malformations of the BAT5 (ABHD 16A) protein to human disease, the affected individuals presented with intellectual disability and progressive spasticity of the upper and lower limbs. [10]
Spliceosome RNA helicase BAT1 is an enzyme that in humans is encoded by the BAT1 gene.
Large proline-rich protein BAT3 is a protein that in humans is encoded by the BAT3 gene.
Alpha-taxilin also known as interleukin-14 (IL-14) or high molecular weight B-cell growth factor (HMW-BCGF) is a protein that in humans is encoded by the TXLNA gene.
Large proline-rich protein BAT2 is a protein that in humans is encoded by the BAT2 gene.
Prefoldin subunit 6 is a protein that in humans is encoded by the PFDN6 gene.
KIAA1967, also known as Deleted in Breast Cancer 1, is a protein which in humans is encoded by the KIAA1967 gene.
60S ribosomal protein L23 is a protein that in humans is encoded by the RPL23 gene.
Myosin-14 is a protein that in humans is encoded by the MYH14 gene.
Olfactory receptor 12D3 is a protein that in humans is encoded by the OR12D3 gene.
40S ribosomal protein S11 is a protein that in humans is encoded by the RPS11 gene.
Choline transporter-like protein 4 is a protein that in humans is encoded by the SLC44A4 gene.
Tripartite motif-containing protein 31 is a protein that in humans is encoded by the TRIM31 gene.
Protein Dom3Z is a protein that in humans is encoded by the DOM3Z gene.
Amyloid beta A4 precursor protein-binding family B member 2 is a protein that in humans is encoded by the APBB2 gene.
Probable ribosome biogenesis protein RLP24 is a protein that in humans is encoded by the RSL24D1 gene.
KANSL3, or KAT8 regulatory NSL complex subunit 3 is a protein that in humans is encoded by the KANSL3 gene.
Serine/threonine-protein kinase 40 is an enzyme that in humans is encoded by the STK40 gene.
Transmembrane protein 222 is a protein that in humans is encoded by the TMEM222 gene. One notable feature of the protein encoded by this gene is the presence of three predicted transmembrane domains. The TMEM222 protein is predicted to most likely localize to the secretory vesicles.
Protein BAT4 is a protein that in humans is encoded by the BAT4 gene.
Lysosomal thioesterase PPT2 (PPT-2), also known as S-thioesterase G14, is an enzyme that in humans is encoded by the PPT2 gene.