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NDUFAF5

GENERAL INFORMATION

Gene name

 NDUFAF5

Gene description

 NADH dehydrogenase (ubiquinone) complex I, assembly factor 5

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:Mixed
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Low cytoplasmic expression in several tissues and high membranous expression in fallopian tube and nasopharynx.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly not consistent with RNA expression data. Pending external verification.

Reliability score

 Uncertain based on 1 antibody.
HPA051184
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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
Bronchus
N/A
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: Mixed
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

 NDUFAF5 (HGNC Symbol)

Synonyms

 C20orf7, dJ842G6.1

Description

 NADH dehydrogenase (ubiquinone) complex I, assembly factor 5 (HGNC Symbol)

Entrez gene summary

 The NADH-ubiquinone oxidoreductase complex (complex I) of the mitochondrial respiratory chain catalyzes the transfer of electrons from NADH to ubiquinone, and consists of at least 43 subunits. The complex is located in the inner mitochondrial membrane. This gene encodes a mitochondrial protein that is associated with the matrix face of the mitochondrial inner membrane and is required for complex I assembly. A mutation in this gene results in mitochondrial complex I deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

Chromosome

 20

Cytoband

 p12.1

Chromosome location (bp)

 13784950 - 13821582

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000101247 (version 83.38)

Entrez gene

 79133

UniProt

 Q5TEU4 (UniProt - Evidence at protein level)

neXtProt

 NX_Q5TEU4

Antibodypedia

 NDUFAF5 antibodies

PROTEIN BROWSER
NDUFAF5-006
NDUFAF5-008

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
NDUFAF5-006
ENSP00000367346
ENST00000378106
Q5TEU4 [Direct mapping]
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 5
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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:0003674 [molecular_function]
GO:0005739 [mitochondrion]
GO:0005743 [mitochondrial inner membrane]
GO:0008152 [metabolic process]
GO:0008168 [methyltransferase activity]
GO:0022904 [respiratory electron transport chain]
GO:0031314 [extrinsic component of mitochondrial inner membrane]
GO:0032259 [methylation]
GO:0032981 [mitochondrial respiratory chain complex I assembly]
GO:0044237 [cellular metabolic process]
GO:0044281 [small molecule metabolic process]
Show all
 345 aa
38.9 kDa 		No 0
NDUFAF5-008
ENSP00000420497
ENST00000463598
Q5TEU4 [Direct mapping]
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 5
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003674 [molecular_function]
GO:0005743 [mitochondrial inner membrane]
GO:0008168 [methyltransferase activity]
GO:0022904 [respiratory electron transport chain]
GO:0031314 [extrinsic component of mitochondrial inner membrane]
GO:0032259 [methylation]
GO:0032981 [mitochondrial respiratory chain complex I assembly]
GO:0044237 [cellular metabolic process]
GO:0044281 [small molecule metabolic process]
Show all
 317 aa
36.1 kDa 		No 0

Contact

The Project

The Human Protein Atlas

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