BAT5

ABHD16A
Identifiers
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
Gene location (Human) Chr. Chromosome 6 (human) [1] Band 6p21.33 Start 31,686,955 bp [1] End 31,703,356 bp [1]
Gene location (Mouse) Chr. Chromosome 17 (mouse) [2] Band 17 B1|17 18.59 cM Start 35,308,239 bp [2] End 35,321,963 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in pituitary gland anterior pituitary right hemisphere of cerebellum granulocyte right lobe of thyroid gland C1 segment left testis right uterine tube right testis ganglionic eminence Top expressed in cerebellar cortex perirhinal cortex lobe of cerebellum muscle of thigh entorhinal cortex choroid plexus of fourth ventricle vestibular membrane of cochlear duct motor neuron cerebellar vermis olfactory epithelium More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding hydrolase activity lysophospholipase activity acylglycerol lipase activity phospholipase activity Cellular component membrane integral component of membrane Biological process monoacylglycerol catabolic process prostaglandin catabolic process phosphatidylserine catabolic process lipid metabolism Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 7920 193742 Ensembl ENSG00000236063 ENSG00000231488 ENSG00000204427 ENSG00000235676 ENSG00000230475 ENSG00000206403 ENSG00000224552 ENSMUSG00000007036 UniProt O95870 Q9Z1Q2 RefSeq (mRNA) NM_001177515 NM_021160 NM_178592 RefSeq (protein) NP_001170986 NP_066983 NP_848707 Location (UCSC) Chr 6: 31.69 – 31.7 Mb Chr 17: 35.31 – 35.32 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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]

Bat5 structure

Amino acid sequence

Cross examination of BAT5 amino acid sequence in humans and mice

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.

Structural prediction of human BAT5 (ABHD 16A) protein

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 chromosome 6 and mouse chromosome 17 BAT5 location

BAT5 gene location

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 molecular weight

BAT5 molecular weight comparison of humans (H) and mice (m)

BAT5 in humans and mice has been found to be around 63 kDA.

Bat5 implications in recent studies

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]

References

1. ENSG00000231488, ENSG00000204427, ENSG00000235676, ENSG00000230475, ENSG00000206403, ENSG00000224552 GRCh38: Ensembl release 89: ENSG00000236063, ENSG00000231488, ENSG00000204427, ENSG00000235676, ENSG00000230475, ENSG00000206403, ENSG00000224552 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000007036 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Spies T, Blanck G, Bresnahan M, Sands J, Strominger JL (Feb 1989). "A new cluster of genes within the human major histocompatibility complex". Science. 243 (4888): 214–7. Bibcode:1989Sci...243..214S. doi:10.1126/science.2911734. PMID   2911734.
6. Spies T, Bresnahan M, Strominger JL (December 1989). "Human major histocompatibility complex contains a minimum of 19 genes between the complement cluster and HLA-B". Proc Natl Acad Sci U S A. 86 (22): 8955–8. Bibcode:1989PNAS...86.8955S. doi: 10.1073/pnas.86.22.8955 . PMC   298409 . PMID   2813433.
7. "Entrez Gene: BAT5 HLA-B associated transcript 5".
8. Savinainen, Juha R.; Patel, Jayendra Z.; Parkkari, Teija; Navia-Paldanius, Dina; Marjamaa, Joona J. T.; Laitinen, Tuomo; Nevalainen, Tapio; Laitinen, Jarmo T. (2014-10-07). "Biochemical and Pharmacological Characterization of the Human Lymphocyte Antigen B-Associated Transcript 5 (BAT5/ABHD16A)". PLOS ONE. 9 (10): e109869. Bibcode:2014PLoSO...9j9869S. doi: 10.1371/journal.pone.0109869 . ISSN   1932-6203. PMC   4188605 . PMID   25290914.
9. Xu, Jun; Gu, Weizhen; Ji, Kai; Xu, Zhao; Zhu, Haihua; Zheng, Wenming (2018). "Sequence analysis and structure prediction of ABHD16A and the roles of the ABHD family members in human disease". Open Biology. 8 (5): 180017. doi:10.1098/rsob.180017. PMC   5990648 . PMID   29794032.
10. Lemire, Gabrielle; Ito, Yoko A.; Marshall, Aren E.; Chrestian, Nicolas; Stanley, Valentina; Brady, Lauren; Tarnopolsky, Mark; Curry, Cynthia J.; Hartley, Taila; Mears, Wendy; Derksen, Alexa (2021-10-07). "ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies". The American Journal of Human Genetics. 108 (10): 2017–2023. doi:10.1016/j.ajhg.2021.09.005. ISSN   0002-9297. PMC   8546048 . PMID   34587489.

External links

• Human ABHD16A genome location and ABHD16A gene details page in the UCSC Genome Browser .

Further reading

• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Gevaert K, Goethals M, Martens L, et al. (2004). "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides". Nat. Biotechnol. 21 (5): 566–9. doi:10.1038/nbt810. PMID   12665801. S2CID   23783563.
• Mungall AJ, Palmer SA, Sims SK, et al. (2003). "The DNA sequence and analysis of human chromosome 6". Nature. 425 (6960): 805–11. Bibcode:2003Natur.425..805M. doi: 10.1038/nature02055 . PMID   14574404.
• Xie T, Rowen L, Aguado B, et al. (2004). "Analysis of the Gene-Dense Major Histocompatibility Complex Class III Region and Its Comparison to Mouse". Genome Res. 13 (12): 2621–36. doi:10.1101/gr.1736803. PMC   403804 . PMID   14656967.
• Lehner B, Semple JI, Brown SE, et al. (2004). "Analysis of a high-throughput yeast two-hybrid system and its use to predict the function of intracellular proteins encoded within the human MHC class III region". Genomics. 83 (1): 153–67. doi:10.1016/S0888-7543(03)00235-0. PMID   14667819.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi: 10.1038/ng1285 . PMID   14702039.
• Lehner B, Sanderson CM (2004). "A Protein Interaction Framework for Human mRNA Degradation". Genome Res. 14 (7): 1315–23. doi:10.1101/gr.2122004. PMC   442147 . PMID   15231747.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC   528928 . PMID   15489334.
• Wan D, Gong Y, Qin W, et al. (2004). "Large-scale cDNA transfection screening for genes related to cancer development and progression". Proc. Natl. Acad. Sci. U.S.A. 101 (44): 15724–9. Bibcode:2004PNAS..10115724W. doi: 10.1073/pnas.0404089101 . PMC   524842 . PMID   15498874.
• Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID   16189514. S2CID   4427026.