ABHD16A
Identifiers
AliasesABHD16A, BAT5, D6S82E, NG26, PP199, abhydrolase domain containing 16A, hBAT5, abhydrolase domain containing 16A, phospholipase, SPG86
External IDsOMIM: 142620 MGI: 99476 HomoloGene: 10904 GeneCards: ABHD16A
Orthologs
SpeciesHumanMouse
Entrez

7920

193742

Ensembl

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 MbChr 17: 35.31 – 35.32 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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. 1 2 3 ENSG00000231488, ENSG00000204427, ENSG00000235676, ENSG00000230475, ENSG00000206403, ENSG00000224552 GRCh38: Ensembl release 89: ENSG00000236063, ENSG00000231488, ENSG00000204427, ENSG00000235676, ENSG00000230475, ENSG00000206403, ENSG00000224552 - Ensembl, May 2017
  2. 1 2 3 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. 1 2 "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. 1 2 3 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. 1 2 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.

Further reading


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.