MBOAT4 membrane bound O-acyltransferase domain containing 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MBOAT4provided by HGNC
Official Full Name: membrane bound O-acyltransferase domain containing 4provided by HGNC
Primary source: HGNC:HGNC:32311
See related: Ensembl:ENSG00000177669 MIM:611940; AllianceGenome:HGNC:32311
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GOAT; OACT4; FKSG89
Summary: Enables acyltransferase activity, transferring groups other than amino-acyl groups. Involved in peptidyl-serine octanoylation. Predicted to be located in endoplasmic reticulum. Predicted to be active in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in stomach (RPKM 1.5), gall bladder (RPKM 0.4) and 10 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8p12

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (30131671..30144665, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (30410588..30423543, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (29989187..30002181, complement)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

Anorexia of ageing is associated with elevated fasted and lower post-prandial ghrelin, independent of ghrelin O-acyltransferase.
Title: Anorexia of ageing is associated with elevated fasted and lower post-prandial ghrelin, independent of ghrelin O-acyltransferase.
Unacylated-Ghrelin Impairs Hippocampal Neurogenesis and Memory in Mice and Is Altered in Parkinson's Dementia in Humans.
Title: Unacylated-Ghrelin Impairs Hippocampal Neurogenesis and Memory in Mice and Is Altered in Parkinson's Dementia in Humans.
GOAT-levels could also represent a novel predictive biomarker of aggressiveness, as its levels are positively associated with Gleason Score and the presence of metastasis at the time of diagnoses.
Title: Plasma ghrelin O-acyltransferase (GOAT) enzyme levels: A novel non-invasive diagnosis tool for patients with significant prostate cancer.
GOAT was significantly overexpressed in gastroenteropancreatic tumor samples compared to adjacent non-tumor tissue
Title: Ghrelin-O-Acyltransferase (GOAT) Enzyme as a Novel Potential Biomarker in Gastroenteropancreatic Neuroendocrine Tumors.
GOAT is a druggable target, and its inhibitors are promising antiobesity drugs.
Title: Identification and Characterization of a New Series of Ghrelin O-Acyl Transferase Inhibitors.
MBOAT4 expression is significantly increased in Japanese patients with schizophrenia compared to controls.
Title: Differential expression of the ghrelin-related mRNAs GHS-R1a, GHS-R1b, and MBOAT4 in Japanese patients with schizophrenia.
Plasma GOAT levels exhibit high specificity/sensitivity to predict prostate carcinoma-presence compared with other PCa-biomarkers, especially in non-diabetic individuals.
Title: Ghrelin O-acyltransferase (GOAT) enzyme is overexpressed in prostate cancer, and its levels are associated with patient's metabolic status: Potential value as a non-invasive biomarker.
The role of ghrelin O-acyltransferase cysteine residue in the ghrelin acylation
Title: Synthetic Triterpenoid Inhibition of Human Ghrelin O-Acyltransferase: The Involvement of a Functionally Required Cysteine Provides Mechanistic Insight into Ghrelin Acylation.
GOAT prefers n-hexanoyl-CoA over n-octanoyl-CoA as the acyl donor, although in the stomach the n-octanoyl form is the predominant form of acyl-modified ghrelin.
Title: Ghrelin O-acyltransferase (GOAT), a specific enzyme that modifies ghrelin with a medium-chain fatty acid.
The GOAT active site was characterized by defining substrate-enzyme interactions used to bind and recognize ghrelin.
Title: Structure-activity analysis of human ghrelin O-acyltransferase reveals chemical determinants of ghrelin selectivity and acyl group recognition.

Submit: New GeneRIF Correction See all GeneRIFs (23)

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables O-acyltransferase activity	TAS Traceable Author Statement more info
enables acyltransferase activity, transferring groups other than amino-acyl groups	IDA Inferred from Direct Assay more info	PubMed
enables serine O-acyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in lipid modification	IBA Inferred from Biological aspect of Ancestor more info
involved_in peptide hormone processing	TAS Traceable Author Statement more info
involved_in peptidyl-serine octanoylation	IDA Inferred from Direct Assay more info	PubMed
involved_in protein decanoylation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum	ISS Inferred from Sequence or Structural Similarity more info
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: ghrelin O-acyltransferase

Names: O-acyltransferase (membrane bound) domain containing 4; O-acyltransferase domain-containing protein 4; membrane-bound O-acyltransferase domain-containing protein 4

NP_001094386.1

EC 2.3.1.-

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.