GLYATL3 glycine-N-acyltransferase like 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GLYATL3provided by HGNC
Official Full Name: glycine-N-acyltransferase like 3provided by HGNC
Primary source: HGNC:HGNC:21349
See related: Ensembl:ENSG00000203972 MIM:614763; AllianceGenome:HGNC:21349
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: C6orf140; bA28H17.2
Summary: Predicted to enable glycine N-acyltransferase activity. Predicted to be involved in lipid metabolic process. Predicted to be located in mitochondrion. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 6p12.3

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (49499923..49528078)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (49342084..49370250)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (49467636..49495791)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

Submit: New GeneRIF Correction

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

EBI GWAS Catalog

Description
Voxelwise genome-wide association study (vGWAS). EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables glycine N-acyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables glycine N-acyltransferase activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in lipid metabolic process	IEA Inferred from Electronic Annotation more info

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

General protein information

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Preferred Names: glycine N-acyltransferase-like protein 3

Names: acyl-CoA:glycine-N-acyltransferase-like protein 3

NP_001010904.1

EC 2.3.1.13

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_001010904.2 → NP_001010904.1 glycine N-acyltransferase-like protein 3

See identical proteins and their annotated locations for NP_001010904.1

Status: VALIDATED

Source sequence(s)

AL590244, AW591696, DB246049

Consensus CDS

CCDS47440.1

UniProtKB/Swiss-Prot

Q5SZD4

Related

ENSP00000360240.4, ENST00000371197.9

Conserved Domains (2) summary

pfam06021
Location:10 → 190

Gly_acyl_tr_N; Aralkyl acyl-CoA:amino acid N-acyltransferase

cl17182
Location:191 → 279

NAT_SF; N-Acyltransferase superfamily: Various enyzmes that characteristicly catalyze the transfer of an acyl group to a substrate