NDUFAF1

GENERAL INFORMATION

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Gene name

NDUFAF1

Gene description

NADH dehydrogenase (ubiquinone) complex I, assembly factor 1

Protein class

Mitochondrial proteins
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

3
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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

Ubiquitous cytoplasmic expression, often granular.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 2 antibodies.
HPA039933 , HPA040064
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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

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

NDUFAF1 (HGNC Symbol)

Synonyms

CGI-65, CIA30

Description

NADH dehydrogenase (ubiquinone) complex I, assembly factor 1 (HGNC Symbol)

Entrez gene summary

This gene encodes a complex I assembly factor protein. Complex I (NADH-ubiquinone oxidoreductase) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. The encoded protein is required for assembly of complex I, and mutations in this gene are a cause of mitochondrial complex I deficiency. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 19. [provided by RefSeq, Dec 2011]

Chromosome

15

Cytoband

q15.1

Chromosome location (bp)

41387349 - 41402519

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000137806 (version 78.38)

Entrez gene

51103

UniProt

Q9Y375 (UniProt - Evidence at protein level)

neXtProt

NX_Q9Y375

Antibodypedia

NDUFAF1 antibodies


PROTEIN BROWSER

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ENST00000260361
 
ENST00000558719
 
ENST00000560978
 
 
 
 


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)

NDUFAF1-001 ENSP00000260361
ENST00000260361
Q9Y375
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Show » Show » 327 37.8 No 0
NDUFAF1-003 ENSP00000453944
ENST00000560978
H0YNB7
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Show » Show » 209 23.8 No 0
NDUFAF1-004 ENSP00000454083
ENST00000558719
H0YNN4
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Show » Show » 191 21.6 No 0