ABHD16A abhydrolase domain containing 16A, phospholipase [Homo sapiens (human)] - Gene

Summary

Official Symbol: ABHD16Aprovided by HGNC
Official Full Name: abhydrolase domain containing 16A, phospholipaseprovided by HGNC
Primary source: HGNC:HGNC:13921
See related: Ensembl:ENSG00000204427 MIM:142620; AllianceGenome:HGNC:13921
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BAT5; NG26; PP199; SPG86; hBAT5; D6S82E
Summary: A cluster of genes, BAT1-BAT5, has been localized in the vicinity of the genes for tumor necrosis factor alpha and tumor necrosis factor 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. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010]
Expression: Ubiquitous expression in testis (RPKM 19.9), prostate (RPKM 13.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6p21.33

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (31686955..31703324, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (31539989..31556359, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (31654732..31671101, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A homozygous ABHD16A variant causes a complex hereditary spastic paraplegia with developmental delay, absent speech, and characteristic face.
Title: A homozygous ABHD16A variant causes a complex hereditary spastic paraplegia with developmental delay, absent speech, and characteristic face.
ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies.
Title: ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies.
Mapping the Neuroanatomy of ABHD16A, ABHD12, and Lysophosphatidylserines Provides New Insights into the Pathophysiology of the Human Neurological Disorder PHARC.
Title: Mapping the Neuroanatomy of ABHD16A, ABHD12, and Lysophosphatidylserines Provides New Insights into the Pathophysiology of the Human Neurological Disorder PHARC.
ABHD16A is located on chromosome 6p21.33. It has 21 exons and four different transcripts, two of which encode proteins, while the other two encode LncRNAs. Its conformation revealed four transmembrane regions with 8 beta-strands and 6 alpha-helices as a typical a/b-hydrolase. [review]
Title: Sequence analysis and structure prediction of ABHD16A and the roles of the ABHD family members in human disease.
BAT5 is a genuine lipase with preference for long-chain unsaturated monoacylglycerols, and could in this capacity regulate glycerolipid metabolism in vivo as well.
Title: Biochemical and pharmacological characterization of the human lymphocyte antigen B-associated transcript 5 (BAT5/ABHD16A).
Results suggest BAT2 -8671, BAT3 8854, and BAT5 22655, 9569 SNPs as well as BAT haplotypes (ATTGTG and ATCATG) might be associated with higher Kawasaki disease susceptibility and coronary artery aneurysm formation.
Title: Human lymphocyte antigen B-associated transcript 2, 3, and 5 polymorphisms and haplotypes are associated with susceptibility of Kawasaki disease and coronary artery aneurysm.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Polymorphisms in innate immunity genes and risk of childhood leukemia.
Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Genomewide association study of an AIDS-nonprogression cohort emphasizes the role played by HLA genes (ANRS Genomewide Association Study 02).
Observational study of gene-disease association. (HuGE Navigator)
Title: An integrative method for scoring candidate genes from association studies: application to warfarin dosing.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Spastic paraplegia 86, autosomal recessive MedGen: C5676910 OMIM: 619735 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp160, precursor	env	HIV-1 gp160 interacts with ABHD16A (BAT5); predicted interaction to be involved in antigenicity/immunity	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NIB1238 (e-PCR)
- UniSTS:19457

D6S1938 (e-PCR)
- UniSTS:5392

RH1536 (e-PCR)
- UniSTS:29746

RH93334 (e-PCR)
- UniSTS:90677

D6S1165E (e-PCR)
- UniSTS:46148

A002L14 (e-PCR)
- UniSTS:63430

WI-10341 (e-PCR)
- UniSTS:81623

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
NOT enables lysophospholipase activity	IDA Inferred from Direct Assay more info	PubMed
enables monoacylglycerol lipase activity	IBA Inferred from Biological aspect of Ancestor more info
enables monoacylglycerol lipase activity	IDA Inferred from Direct Assay more info	PubMed
enables phospholipase activity	IBA Inferred from Biological aspect of Ancestor more info
enables phospholipase activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in monoacylglycerol catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in monoacylglycerol catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in phosphatidylserine catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in phosphatidylserine catabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in prostaglandin catabolic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: phosphatidylserine lipase ABHD16A

Names: HLA-B associated transcript 5; abhydrolase domain-containing protein 16A; alpha/beta hydrolase domain-containing protein 16A; monoacylglycerol lipase ABHD16A; protein ABHD16A; protein G5

NP_001170986.1

EC 3.1.1.23

NP_066983.1

EC 3.1.1.23

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001177515.2 → NP_001170986.1 phosphatidylserine lipase ABHD16A isoform b

See identical proteins and their annotated locations for NP_001170986.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and has multiple coding region differences, compared to variant 1. These differences cause translation initiation at an alternate AUG and result in an isoform (b) with a shorter, distinct N-terminus, compared to isoform 1.

Source sequence(s)

AI076373, AK297712, BC031839, BE272017, BP261875

Consensus CDS

CCDS54988.1

UniProtKB/TrEMBL

A8K0A4

Related

ENSP00000410347.2, ENST00000440843.2

Conserved Domains (1) summary

pfam00561
Location:247 → 375

Abhydrolase_1; alpha/beta hydrolase fold
NM_021160.3 → NP_066983.1 phosphatidylserine lipase ABHD16A isoform a

See identical proteins and their annotated locations for NP_066983.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (a).

Source sequence(s)

AI076373, AK023194, BC031839, BE272017, DC360732

Consensus CDS

CCDS4713.1

UniProtKB/Swiss-Prot

A2BEY3, B7Z4R6, O95870, Q5SRR1, Q5SRR2, Q8WYH0, Q9NW33

UniProtKB/TrEMBL

A0A1U9X777, A8K0A4

Related

ENSP00000379282.3, ENST00000395952.8

Conserved Domains (1) summary

pfam00561
Location:280 → 408

Abhydrolase_1; alpha/beta hydrolase fold

RNA

NR_033488.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) contains an alternate 5' exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AI076373, AK055255, BE272017

Related

ENST00000492084.5
NR_033489.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks two internal exons compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AI076373, AK308573, BC031839, BE272017, DC318775

Related

ENST00000495769.5