ACAD10 acyl-CoA dehydrogenase family member 10 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ACAD10provided by HGNC
Official Full Name: acyl-CoA dehydrogenase family member 10provided by HGNC
Primary source: HGNC:HGNC:21597
See related: Ensembl:ENSG00000111271 MIM:611181; AllianceGenome:HGNC:21597
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
Summary: This gene encodes a member of the acyl-CoA dehydrogenase family of enzymes (ACADs), which participate in the beta-oxidation of fatty acids in mitochondria. The encoded enzyme contains a hydrolase domain at the N-terminal portion, a serine/threonine protein kinase catlytic domain in the central region, and a conserved ACAD domain at the C-terminus. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Nov 2008]
Expression: Ubiquitous expression in kidney (RPKM 11.6), duodenum (RPKM 7.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q24.12

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (111686053..111757099)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (111662974..111734020)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (112123857..112194903)

Chromosome 12 - NC_000012.12 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
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 Genome-Wide Association Study of a Korean Population Identifies Genetic Susceptibility to Hypertension Based on Sex-Specific Differences.
Title: A Genome-Wide Association Study of a Korean Population Identifies Genetic Susceptibility to Hypertension Based on Sex-Specific Differences.
ACAD10 protein expression and Neurobehavioral assessment of Acad10-deficient mice.
Title: ACAD10 protein expression and Neurobehavioral assessment of Acad10-deficient mice.
Two imaging features (total en face area of drusen restricted to a circular area 3 mm from the fovea and mean drusen reflectivity) and 1 genetic variant (ACAD10 locus) were associated with conversion to neovascular age-related macular degeneration (AMD).
Title: Imaging, Genetic, and Demographic Factors Associated With Conversion to Neovascular Age-Related Macular Degeneration: Secondary Analysis of a Randomized Clinical Trial.
Six polymorphisms (rs12229654 at 12q24.1, rs671 of ALDH2, rs11066015 of ACAD10, rs2074356 and rs11066280 of HECTD4, and rs3782886 of BRAP) were found to be associated with both systolic and diastolic blood pressure, with those at 12q24.1 or in ACAD10 or BRAP being novel determinants of blood pressure in Japanese.
Title: Identification of polymorphisms in 12q24.1, ACAD10, and BRAP as novel genetic determinants of blood pressure in Japanese by exome-wide association studies.
ACAD10 has significant activity towards the branched-chain substrates R and S, 2 methyl-C15-CoA and is highly expressed in fetal but not adult brain
Title: Identification and characterization of new long chain acyl-CoA dehydrogenases.
Results propose that ACAD10 variation may increase type 2 diabetes susceptibility by impairing insulin sensitivity via abnormal lipid oxidation.
Title: Variants in ACAD10 are associated with type 2 diabetes, insulin resistance and lipid oxidation in Pima Indians.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
cDNA ACAD10 maps to chromosome 12q24.1
Title: Cloning and characterization of a human cDNA ACAD10 mapped to chromosome 12q24.1.

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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

EBI GWAS Catalog

Description
A genome-wide association study of a coronary artery disease risk variant. EBI GWAS Catalog EBI GWAS CatalogPubMed
A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies three new susceptibility loci for esophageal squamous-cell carcinoma in Chinese populations. 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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Markers

WI-14804 (e-PCR)
- UniSTS:81199

STS-H17854 (e-PCR)
- UniSTS:80184

A004F15 (e-PCR)
- UniSTS:44132

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables acyl-CoA dehydrogenase activity	IBA Inferred from Biological aspect of Ancestor more info
enables acyl-CoA dehydrogenase activity	TAS Traceable Author Statement more info
enables flavin adenine dinucleotide binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in fatty acid beta-oxidation	TAS Traceable Author Statement more info
involved_in fatty acid beta-oxidation using acyl-CoA dehydrogenase	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial matrix	TAS Traceable Author Statement more info
located_in mitochondrion	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: acyl-CoA dehydrogenase family member 10

Names: ACAD-10; acyl-Coenzyme A dehydrogenase family, member 10

NP_001130010.1

EC 1.2.1.3

NP_079523.3

EC 1.2.1.3

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_001136538.2 → NP_001130010.1 acyl-CoA dehydrogenase family member 10 isoform a

See identical proteins and their annotated locations for NP_001130010.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).

Source sequence(s)

AL832043, BC126358, CA419108, DA146693

Consensus CDS

CCDS44973.1

UniProtKB/Swiss-Prot

Q6JQN1

Related

ENSP00000389813.2, ENST00000455480.6

Conserved Domains (5) summary

PLN02876
Location:288 → 1087

PLN02876; acyl-CoA dehydrogenase

cd05154
Location:317 → 567

ACAD10_11_N-like; N-terminal domain of Acyl-CoA dehydrogenase (ACAD) 10 and 11, and similar proteins

TIGR02247
Location:41 → 278

HAD-1A3-hyp; epoxide hydrolase N-terminal domain-like phosphatase

cl09933
Location:694 → 1087

ACAD; Acyl-CoA dehydrogenase

cl21460
Location:46 → 238

HAD_like; Haloacid Dehalogenase-like Hydrolases
NM_025247.6 → NP_079523.3 acyl-CoA dehydrogenase family member 10 isoform b

See identical proteins and their annotated locations for NP_079523.3

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform b) compared to isoform a.

Source sequence(s)

AL832043, AY323912, CA419108, DA146693

Consensus CDS

CCDS31903.1

UniProtKB/Swiss-Prot

G3XAJ0, Q6JQN1, Q8N828, Q8NAP2, Q96BX5

Related

ENSP00000325137.5, ENST00000313698.9

Conserved Domains (5) summary

PLN02876
Location:257 → 1056

PLN02876; acyl-CoA dehydrogenase

cd05154
Location:286 → 536

ACAD10_11_N-like; N-terminal domain of Acyl-CoA dehydrogenase (ACAD) 10 and 11, and similar proteins

TIGR02247
Location:41 → 247

HAD-1A3-hyp; epoxide hydrolase N-terminal domain-like phosphatase

cl09933
Location:663 → 1056

ACAD; Acyl-CoA dehydrogenase

cl21460
Location:46 → 236

HAD_like; Haloacid Dehalogenase-like Hydrolases

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

111686053..111757099

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060936.1 Alternate T2T-CHM13v2.0

Range

111662974..111734020

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001136542.1: Suppressed sequence

Description

NM_001136542.1: This RefSeq was permanently suppressed because it is 3' partial and would be a nonsense-mediated mRNA decay (NMD) candidate if fully extended.