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ACAD8

GENERAL INFORMATION

Gene name

 ACAD8

Gene description

 Acyl-CoA dehydrogenase family, member 8

Protein class

 Disease related genes
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 2
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 General granular cytoplasmic expression.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Supported based on 2 antibodies.
HPA040689 , HPA043903
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Nasopharynx
N/A
N/A
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 ACAD8

Synonyms

Description

 Acyl-CoA dehydrogenase family, member 8 (HGNC Symbol)

Entrez gene summary

 This gene encodes a member of the acyl-CoA dehydrogenase family of enzymes that catalyze the dehydrogenation of acyl-CoA derivatives in the metabolism of fatty acids or branch chained amino acids. The encoded protein is a mitochondrial enzyme that functions in catabolism of the branched-chain amino acid valine. Defects in this gene are the cause of isobutyryl-CoA dehydrogenase deficiency.[provided by RefSeq, Nov 2009]

Chromosome

 11

Cytoband

 q25

Chromosome location (bp)

 134253495 - 134265855

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000151498 (version 83.38)

Entrez gene

 27034

UniProt

 Q9UKU7 (UniProt - Evidence at protein level)

neXtProt

 NX_Q9UKU7

Antibodypedia

 ACAD8 antibodies

PROTEIN BROWSER
ACAD8-001
ACAD8-006

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
ACAD8-001
ENSP00000281182
ENST00000281182
Q9UKU7 [Direct mapping]
Isobutyryl-CoA dehydrogenase, mitochondrial
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Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000062 [fatty-acyl-CoA binding]
GO:0003995 [acyl-CoA dehydrogenase activity]
GO:0005739 [mitochondrion]
GO:0005759 [mitochondrial matrix]
GO:0006351 [transcription, DNA-templated]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006574 [valine catabolic process]
GO:0006629 [lipid metabolic process]
GO:0008152 [metabolic process]
GO:0009055 [electron carrier activity]
GO:0009083 [branched-chain amino acid catabolic process]
GO:0016627 [oxidoreductase activity, acting on the CH-CH group of donors]
GO:0033539 [fatty acid beta-oxidation using acyl-CoA dehydrogenase]
GO:0034641 [cellular nitrogen compound metabolic process]
GO:0044281 [small molecule metabolic process]
GO:0050660 [flavin adenine dinucleotide binding]
GO:0052890 [oxidoreductase activity, acting on the CH-CH group of donors, with a flavin as acceptor]
GO:0055088 [lipid homeostasis]
GO:0055114 [oxidation-reduction process]
Show all
 415 aa
45.1 kDa 		No 0
ACAD8-006
ENSP00000363884
ENST00000374752
Q9UKU7 [Direct mapping]
Isobutyryl-CoA dehydrogenase, mitochondrial
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   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000062 [fatty-acyl-CoA binding]
GO:0003995 [acyl-CoA dehydrogenase activity]
GO:0005739 [mitochondrion]
GO:0005759 [mitochondrial matrix]
GO:0006351 [transcription, DNA-templated]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006574 [valine catabolic process]
GO:0006629 [lipid metabolic process]
GO:0008152 [metabolic process]
GO:0009055 [electron carrier activity]
GO:0009083 [branched-chain amino acid catabolic process]
GO:0016627 [oxidoreductase activity, acting on the CH-CH group of donors]
GO:0033539 [fatty acid beta-oxidation using acyl-CoA dehydrogenase]
GO:0034641 [cellular nitrogen compound metabolic process]
GO:0044281 [small molecule metabolic process]
GO:0050660 [flavin adenine dinucleotide binding]
GO:0052890 [oxidoreductase activity, acting on the CH-CH group of donors, with a flavin as acceptor]
GO:0055088 [lipid homeostasis]
GO:0055114 [oxidation-reduction process]
Show all
 288 aa
31 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.