BAT5

Last updated
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
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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]

Contents

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 BAT5 protein human Amino Acid Sequence compared to BAT5 protein mice Amino Acid.png
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 protein structure.jpg
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 Human chromosome 6 and Mouse chromosome 17 BAT5 location.jpg
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 protein profiling in humans (h) compared to mice (m).png
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]

Related Research Articles

<span class="mw-page-title-main">BAT1</span> Protein-coding gene in the species Homo sapiens

Spliceosome RNA helicase BAT1 is an enzyme that in humans is encoded by the BAT1 gene.

<span class="mw-page-title-main">HLA-B associated transcript 3</span> Protein-coding gene in the species Homo sapiens

Large proline-rich protein BAT3 is a protein that in humans is encoded by the BAT3 gene.

<span class="mw-page-title-main">EHMT2</span>

Euchromatic histone-lysine N-methyltransferase 2 (EHMT2), also known as G9a, is a histone methyltransferase enzyme that in humans is encoded by the EHMT2 gene. G9a catalyzes the mono- and di-methylated states of histone H3 at lysine residue 9 and lysine residue 27.

<span class="mw-page-title-main">BAT2</span> Protein-coding gene in the species Homo sapiens

Large proline-rich protein BAT2 is a protein that in humans is encoded by the BAT2 gene.

<span class="mw-page-title-main">LST1</span> Protein-coding gene in the species Homo sapiens

Leukocyte-specific transcript 1 protein is a protein that in humans is encoded by the LST1 gene.

<span class="mw-page-title-main">Prefoldin subunit 6</span>

Prefoldin subunit 6 is a protein that in humans is encoded by the PFDN6 gene.

<i>CSDA</i> (gene) Protein-coding gene in the species Homo sapiens

DNA-binding protein A is a protein that in humans is encoded by the CSDA gene.

<span class="mw-page-title-main">60S ribosomal protein L10a</span> Protein-coding gene in the species Homo sapiens

60S ribosomal protein L10a is a protein that in humans is encoded by the RPL10A gene.

<span class="mw-page-title-main">60S ribosomal protein L23</span> Protein-coding gene in the species Homo sapiens

60S ribosomal protein L23 is a protein that in humans is encoded by the RPL23 gene.

<span class="mw-page-title-main">AGPAT1</span> Protein-coding gene in the species Homo sapiens

1-acyl-sn-glycerol-3-phosphate acyltransferase alpha is an enzyme that in humans is encoded by the AGPAT1 gene.

<span class="mw-page-title-main">OR12D3</span>

Olfactory receptor 12D3 is a protein that in humans is encoded by the OR12D3 gene.

<span class="mw-page-title-main">Choline transporter-like protein 4</span>

Choline transporter-like protein 4 is a protein that in humans is encoded by the SLC44A4 gene.

<span class="mw-page-title-main">TRIM31</span> Protein-coding gene in the species Homo sapiens

Tripartite motif-containing protein 31 is a protein that in humans is encoded by the TRIM31 gene.

<span class="mw-page-title-main">STK19</span>

Serine/threonine-protein kinase 19 is an enzyme that in humans is encoded by the STK19 gene.

<span class="mw-page-title-main">TNFAIP1</span>

BTB/POZ domain-containing protein TNFAIP1 is a protein that in humans is encoded by the TNFAIP1 gene.

<span class="mw-page-title-main">Transmembrane protein 222</span>

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.

<span class="mw-page-title-main">MRPS18B</span>

28S ribosomal protein S18b, mitochondrial is a protein that in humans is encoded by the MRPS18B gene.

<span class="mw-page-title-main">BAT4</span> Protein-coding gene in the species Homo sapiens

Protein BAT4 is a protein that in humans is encoded by the BAT4 gene.

<span class="mw-page-title-main">ABHD11</span> Protein-coding gene in the species Homo sapiens

Abhydrolase domain-containing protein 11 also known as Williams-Beuren syndrome chromosomal region 21 protein (WBSCR21) is an enzyme that in humans is encoded by the ABHD11 gene.

<span class="mw-page-title-main">PPT2</span>

Lysosomal thioesterase PPT2 (PPT-2), also known as S-thioesterase G14, is an enzyme that in humans is encoded by the PPT2 gene.

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. 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