NDUFAF6

GENERAL INFORMATION

? »

Gene name

NDUFAF6

Gene description

NADH dehydrogenase (ubiquinone) complex I, assembly factor 6

Protein class

Disease related genes
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

6
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

? »

RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Mainly cytoplasmic expression in most tissues.

ANTIBODY RELIABILITY

? »

Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 2 antibodies.
HPA047148 , HPA050545
SHOW MORE

RNA AND PROTEIN EXPRESSION SUMMARY

? »
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

? »

Organ

Expression



RNA EXPRESSION OVERVIEW

? »
HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

? »

Gene name

NDUFAF6 (HGNC Symbol)

Synonyms

C8orf38, MGC40214

Description

NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 (HGNC Symbol)

Entrez gene summary

This gene encodes a protein that localizes to mitochondria and contains a predicted phytoene synthase domain. The encoded protein plays an important role in the assembly of complex I (NADH-ubiquinone oxidoreductase) of the mitochondrial respiratory chain through regulation of subunit ND1 biogenesis. Mutations in this gene are associated with complex I enzymatic deficiency. [provided by RefSeq, Nov 2011]

Chromosome

8

Cytoband

q22.1

Chromosome location (bp)

94895767 - 95116455

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000156170 (version 78.38)

Entrez gene

137682

UniProt

Q330K2 (UniProt - Evidence at protein level)

neXtProt

NX_Q330K2

Antibodypedia

NDUFAF6 antibodies


PROTEIN BROWSER

? »
 
 
 
ENST00000396111
 
ENST00000396113
 
ENST00000396124
 
ENST00000519136
 
ENST00000519804
 
ENST00000523378
 
 
 
 


PROTEIN INFORMATION

? »

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

NDUFAF6-001 ENSP00000379417
ENST00000396111
A0A075B6P0
Show all »
Show » Show » 241 28.5 No 0
NDUFAF6-003 ENSP00000379419
ENST00000396113
A0A075B6P0
Show all »
Show » Show » 241 28.5 No 0
NDUFAF6-004 ENSP00000379430
ENST00000396124
Q330K2
Show all »
Show » Show » 333 38.2 No 0
NDUFAF6-008 ENSP00000428034
ENST00000523378
E5RFN5
Show all »
Show » Show » 133 15.6 No 0
NDUFAF6-014 ENSP00000429585
ENST00000519136
E5RHX9
Show all »
Show » Show » 95 11.4 No 0
NDUFAF6-015 ENSP00000430230
ENST00000519804
E5RGD6
Show all »
Show » Show » 103 12.1 No 0