ETFA

GENERAL INFORMATION

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Gene name

ETFA

Gene description

Electron-transfer-flavoprotein, alpha polypeptide

Protein class

Disease related genes
Mitochondrial proteins
Plasma proteins
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

8
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Granular cytoplasmic staining of varying intensity in all cell types.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 4 antibodies.
HPA018990 , HPA018993 , HPA018996 , HPA024089
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Heart muscle

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

ETFA (HGNC Symbol)

Synonyms

EMA, GA2, MADD

Description

Electron-transfer-flavoprotein, alpha polypeptide (HGNC Symbol)

Entrez gene summary

ETFA participates in catalyzing the initial step of the mitochondrial fatty acid beta-oxidation. It shuttles electrons between primary flavoprotein dehydrogenases and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. Defects in electron-transfer-flavoprotein have been implicated in type II glutaricaciduria in which multiple acyl-CoA dehydrogenase deficiencies result in large excretion of glutaric, lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Chromosome

15

Cytoband

Chromosome location (bp)

76215355 - 76311472

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000140374 (version 78.38)

Entrez gene

2108

UniProt

P13804 (UniProt - Evidence at protein level)

neXtProt

NX_P13804

Antibodypedia

ETFA antibodies


PROTEIN BROWSER

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ENST00000433983
 
ENST00000557943
 
ENST00000559386
 
ENST00000559602
 
ENST00000559973
 
ENST00000560345
 
ENST00000560595
 
ENST00000560726
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ETFA-001 ENSP00000452762
ENST00000557943
P13804
Show all »
Show » Show » 333 35.1 No 0
ETFA-002 ENSP00000399273
ENST00000433983
P13804
Show all »
Show » Show » 284 30 No 0
ETFA-006 ENSP00000453098
ENST00000560726
H0YL83
Show all »
Show » Show » 73 7.8 No 0
ETFA-011 ENSP00000452777
ENST00000559386
H0YKF0
Show all »
Show » Show » 289 30.2 No 0
ETFA-012 ENSP00000453017
ENST00000560345
Show » 240 24.9 No 0
ETFA-014 ENSP00000452659
ENST00000559602
H0YK49
Show all »
Show » Show » 229 24.2 No 0
ETFA-017 ENSP00000454194
ENST00000559973
Show » 254 26.8 No 0
ETFA-019 ENSP00000453345
ENST00000560595
H0YLU7
Show all »
Show » Show » 303 31.7 No 0