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NFU1

GENERAL INFORMATION

Gene name

 NFU1

Gene description

 NFU1 iron-sulfur cluster scaffold

Protein class

 Disease related genes
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 6
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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

 Cytoplasmic and nuclear expression in several tissues.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly not consistent with RNA expression data.

Reliability score

 Uncertain based on 1 antibody.
HPA035826
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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
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

 NFU1 (HGNC Symbol)

Synonyms

 CGI-33, HIRIP5, NifU, NIFUC

Description

 NFU1 iron-sulfur cluster scaffold (HGNC Symbol)

Entrez gene summary

 This gene encodes a protein that is localized to mitochondria and plays a critical role in iron-sulfur cluster biogenesis. The encoded protein assembles and transfers 4Fe-4S clusters to target apoproteins including succinate dehydrogenase and lipoic acid synthase. Mutations in this gene are a cause of multiple mitochondrial dysfunctions syndrome-1, and pseudogenes of this gene are located on the short arms of chromosomes 1 and 3. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

Chromosome

 2

Cytoband

 p13.3

Chromosome location (bp)

 69395750 - 69437628

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000169599 (version 83.38)

Entrez gene

 27247

UniProt

 Q9UMS0 (UniProt - Evidence at protein level)

neXtProt

 NX_Q9UMS0

Antibodypedia

 NFU1 antibodies

PROTEIN BROWSER
NFU1-001
NFU1-003
NFU1-008
NFU1-011
NFU1-012
NFU1-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
NFU1-001
ENSP00000387219
ENST00000410022
Q9UMS0 [Direct mapping]
NFU1 iron-sulfur cluster scaffold homolog, mitochondrial
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005506 [iron ion binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005829 [cytosol]
GO:0016226 [iron-sulfur cluster assembly]
GO:0051536 [iron-sulfur cluster binding]
GO:0051539 [4 iron, 4 sulfur cluster binding]
Show all
 254 aa
28.5 kDa 		No 0
NFU1-003
ENSP00000306965
ENST00000303698
Q9UMS0 [Direct mapping]
NFU1 iron-sulfur cluster scaffold homolog, mitochondrial
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005506 [iron ion binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005829 [cytosol]
GO:0016226 [iron-sulfur cluster assembly]
GO:0051536 [iron-sulfur cluster binding]
GO:0051539 [4 iron, 4 sulfur cluster binding]
Show all
 230 aa
25.9 kDa 		No 0
NFU1-008
ENSP00000418598
ENST00000462320
Q9UMS0 [Direct mapping]
NFU1 iron-sulfur cluster scaffold homolog, mitochondrial
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005506 [iron ion binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005829 [cytosol]
GO:0016226 [iron-sulfur cluster assembly]
GO:0051536 [iron-sulfur cluster binding]
GO:0051539 [4 iron, 4 sulfur cluster binding]
Show all
 113 aa
12.3 kDa 		No 0
NFU1-011
ENSP00000415102
ENST00000450796
F8W9P7 [Direct mapping]
NFU1 iron-sulfur cluster scaffold homolog, mitochondrial
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005506 [iron ion binding]
GO:0016226 [iron-sulfur cluster assembly]
GO:0051536 [iron-sulfur cluster binding]
Show all
 99 aa
10.8 kDa 		No 0
NFU1-012
ENSP00000417693
ENST00000484177
C9J8Q1 [Direct mapping]
NFU1 iron-sulfur cluster scaffold homolog, mitochondrial
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005506 [iron ion binding]
GO:0016226 [iron-sulfur cluster assembly]
GO:0051536 [iron-sulfur cluster binding]
Show all
 96 aa
10.4 kDa 		No 0
NFU1-201
ENSP00000377842
ENST00000394305
Q9UMS0 [Direct mapping]
NFU1 iron-sulfur cluster scaffold homolog, mitochondrial
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005506 [iron ion binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0005739 [mitochondrion]
GO:0005829 [cytosol]
GO:0016226 [iron-sulfur cluster assembly]
GO:0051536 [iron-sulfur cluster binding]
GO:0051539 [4 iron, 4 sulfur cluster binding]
Show all
 113 aa
12.3 kDa 		No 0

Contact

The Project

The Human Protein Atlas

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