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Protein

NFU1 iron-sulfur cluster scaffold homolog, mitochondrial

Gene

NFU1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Iron-sulfur cluster scaffold protein which can assemble [4Fe-2S] clusters and deliver them to target proteins.1 Publication

GO - Molecular functioni

  • 4 iron, 4 sulfur cluster binding Source: UniProtKB
  • iron ion binding Source: UniProtKB

GO - Biological processi

  • iron-sulfur cluster assembly Source: UniProtKB
Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000169599-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
NFU1 iron-sulfur cluster scaffold homolog, mitochondrial
Alternative name(s):
HIRA-interacting protein 5
Gene namesi
Name:NFU1
Synonyms:HIRIP5
ORF Names:CGI-33
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:16287. NFU1.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: HPA
  • cytosol Source: UniProtKB
  • mitochondrion Source: UniProtKB
  • nucleoplasm Source: HPA
  • nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Multiple mitochondrial dysfunctions syndrome 1 (MMDS1)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA severe disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurologic development, lactic acidosis, hyperglycinemia and early death. Some patients show failure to thrive, pulmonary hypertension, hypotonia and irritability. Biochemical features include severe combined deficiency of the 2-oxoacid dehydrogenases, defective lipoic acid synthesis and reduction in activity of mitochondrial respiratory chain complexes.
See also OMIM:605711
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_066639208G → C in MMDS1. 1 PublicationCorresponds to variant rs374514431dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi27247.
MalaCardsiNFU1.
MIMi605711. phenotype.
OpenTargetsiENSG00000169599.
Orphaneti401869. Fatal multiple mitochondrial dysfunction syndrome type 1.
PharmGKBiPA162397454.

Polymorphism and mutation databases

BioMutaiNFU1.
DMDMi205371805.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 9MitochondrionSequence analysis9
ChainiPRO_000016619110 – 254NFU1 iron-sulfur cluster scaffold homolog, mitochondrialAdd BLAST245

Proteomic databases

EPDiQ9UMS0.
PaxDbiQ9UMS0.
PeptideAtlasiQ9UMS0.
PRIDEiQ9UMS0.

PTM databases

iPTMnetiQ9UMS0.
PhosphoSitePlusiQ9UMS0.

Expressioni

Tissue specificityi

Ubiquitous. Expression in adult lung is weak compared to fetal lung.1 Publication

Developmental stagei

Expressed in embryo and adult.1 Publication

Gene expression databases

BgeeiENSG00000169599.
CleanExiHS_NFU1.
ExpressionAtlasiQ9UMS0. baseline and differential.
GenevisibleiQ9UMS0. HS.

Organism-specific databases

HPAiHPA035825.
HPA035826.

Interactioni

Subunit structurei

Interacts with HIRA and EPM2A/laforin.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
AGTRAPQ6RW133EBI-725252,EBI-741181
CALCOCO2Q131373EBI-725252,EBI-739580
ORFQ9Q2G43EBI-725252,EBI-6248094From a different organism.
TFIP11Q9UBB95EBI-725252,EBI-1105213
TRIM23P364063EBI-725252,EBI-740098

Protein-protein interaction databases

BioGridi118095. 10 interactors.
IntActiQ9UMS0. 15 interactors.
MINTiMINT-1388264.
STRINGi9606.ENSP00000387219.

Structurei

Secondary structure

1254
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi62 – 64Combined sources3
Beta strandi71 – 75Combined sources5
Beta strandi80 – 83Combined sources4
Beta strandi86 – 88Combined sources3
Helixi93 – 96Combined sources4
Helixi98 – 103Combined sources6
Beta strandi109 – 115Combined sources7
Beta strandi118 – 125Combined sources8
Helixi130 – 147Combined sources18
Helixi167 – 188Combined sources22
Beta strandi192 – 198Combined sources7
Beta strandi201 – 206Combined sources6
Turni208 – 212Combined sources5
Helixi214 – 231Combined sources18
Beta strandi237 – 240Combined sources4

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2LTMNMR-A59-155[»]
2M5ONMR-A162-247[»]
ProteinModelPortaliQ9UMS0.
SMRiQ9UMS0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni173 – 241NifUAdd BLAST69

Sequence similaritiesi

Belongs to the NifU family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG2358. Eukaryota.
COG0694. LUCA.
GeneTreeiENSGT00390000011296.
HOVERGENiHBG054438.
InParanoidiQ9UMS0.
OMAiPVRYMFI.
OrthoDBiEOG091G0MY5.
PhylomeDBiQ9UMS0.
TreeFamiTF315076.

Family and domain databases

Gene3Di3.30.1370.70. 1 hit.
InterProiIPR014824. Nfu/NifU_N.
IPR017065. NFU1.
IPR001075. NIF_FeS_clus_asmbl_NifU_C.
[Graphical view]
PANTHERiPTHR11178:SF1. PTHR11178:SF1. 1 hit.
PfamiPF08712. Nfu_N. 1 hit.
PF01106. NifU. 1 hit.
[Graphical view]
ProDomiPD002830. NIF_FeS_clus_asmbl_NifU_C. 1 hit.
[Graphical view] [Entries sharing at least one domain]
SMARTiSM00932. Nfu_N. 1 hit.
[Graphical view]
SUPFAMiSSF110836. SSF110836. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9UMS0-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAATARRGWG AAAVAAGLRR RFCHMLKNPY TIKKQPLHQF VQRPLFPLPA
60 70 80 90 100
AFYHPVRYMF IQTQDTPNPN SLKFIPGKPV LETRTMDFPT PAAAFRSPLA
110 120 130 140 150
RQLFRIEGVK SVFFGPDFIT VTKENEELDW NLLKPDIYAT IMDFFASGLP
160 170 180 190 200
LVTEETPSGE AGSEEDDEVV AMIKELLDTR IRPTVQEDGG DVIYKGFEDG
210 220 230 240 250
IVQLKLQGSC TSCPSSIITL KNGIQNMLQF YIPEVEGVEQ VMDDESDEKE

ANSP
Length:254
Mass (Da):28,463
Last modified:September 2, 2008 - v2
Checksum:iE84B7F47A4A282CF
GO
Isoform 2 (identifier: Q9UMS0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-141: Missing.

Note: No experimental confirmation available.
Show »
Length:113
Mass (Da):12,347
Checksum:iC46A36AEC7E4C515
GO
Isoform 3 (identifier: Q9UMS0-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-24: Missing.

Show »
Length:230
Mass (Da):25,924
Checksum:i2B953543B3A68DCC
GO

Sequence cautioni

The sequence AAD27742 differs from that shown. Reason: Frameshift at positions 5, 16, 115 and 117.Curated
The sequence AAY14828 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence BAG36716 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAB53015 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti158S → P in AAD27742 (PubMed:10810093).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04442925M → K.2 PublicationsCorresponds to variant rs4453725dbSNPEnsembl.1
Natural variantiVAR_066639208G → C in MMDS1. 1 PublicationCorresponds to variant rs374514431dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0412241 – 141Missing in isoform 2. 1 PublicationAdd BLAST141
Alternative sequenceiVSP_0412251 – 24Missing in isoform 3. 3 PublicationsAdd BLAST24

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ132584 mRNA. Translation: CAB53015.1. Different initiation.
AY335194 mRNA. Translation: AAQ73784.1.
AY286306 mRNA. Translation: AAP92372.1.
AY286307 mRNA. Translation: AAP92373.1.
AF132967 mRNA. Translation: AAD27742.1. Frameshift.
AK314004 mRNA. Translation: BAG36716.1. Different initiation.
AK300700 mRNA. Translation: BAG62381.1.
DB304061 mRNA. No translation available.
AC114772 Genomic DNA. Translation: AAY14828.1. Sequence problems.
CH471053 Genomic DNA. Translation: EAW99849.1.
CH471053 Genomic DNA. Translation: EAW99850.1.
BC113692 mRNA. Translation: AAI13693.1.
BC113694 mRNA. Translation: AAI13695.1.
CCDSiCCDS33217.1. [Q9UMS0-1]
CCDS42694.1. [Q9UMS0-2]
CCDS46315.1. [Q9UMS0-3]
RefSeqiNP_001002755.1. NM_001002755.2. [Q9UMS0-1]
NP_001002756.1. NM_001002756.2. [Q9UMS0-2]
NP_056515.2. NM_015700.3. [Q9UMS0-3]
XP_016859297.1. XM_017003808.1. [Q9UMS0-3]
UniGeneiHs.430439.

Genome annotation databases

EnsembliENST00000303698; ENSP00000306965; ENSG00000169599. [Q9UMS0-3]
ENST00000394305; ENSP00000377842; ENSG00000169599. [Q9UMS0-2]
ENST00000410022; ENSP00000387219; ENSG00000169599. [Q9UMS0-1]
ENST00000462320; ENSP00000418598; ENSG00000169599. [Q9UMS0-2]
GeneIDi27247.
KEGGihsa:27247.
UCSCiuc002sfj.4. human. [Q9UMS0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ132584 mRNA. Translation: CAB53015.1. Different initiation.
AY335194 mRNA. Translation: AAQ73784.1.
AY286306 mRNA. Translation: AAP92372.1.
AY286307 mRNA. Translation: AAP92373.1.
AF132967 mRNA. Translation: AAD27742.1. Frameshift.
AK314004 mRNA. Translation: BAG36716.1. Different initiation.
AK300700 mRNA. Translation: BAG62381.1.
DB304061 mRNA. No translation available.
AC114772 Genomic DNA. Translation: AAY14828.1. Sequence problems.
CH471053 Genomic DNA. Translation: EAW99849.1.
CH471053 Genomic DNA. Translation: EAW99850.1.
BC113692 mRNA. Translation: AAI13693.1.
BC113694 mRNA. Translation: AAI13695.1.
CCDSiCCDS33217.1. [Q9UMS0-1]
CCDS42694.1. [Q9UMS0-2]
CCDS46315.1. [Q9UMS0-3]
RefSeqiNP_001002755.1. NM_001002755.2. [Q9UMS0-1]
NP_001002756.1. NM_001002756.2. [Q9UMS0-2]
NP_056515.2. NM_015700.3. [Q9UMS0-3]
XP_016859297.1. XM_017003808.1. [Q9UMS0-3]
UniGeneiHs.430439.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2LTMNMR-A59-155[»]
2M5ONMR-A162-247[»]
ProteinModelPortaliQ9UMS0.
SMRiQ9UMS0.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi118095. 10 interactors.
IntActiQ9UMS0. 15 interactors.
MINTiMINT-1388264.
STRINGi9606.ENSP00000387219.

PTM databases

iPTMnetiQ9UMS0.
PhosphoSitePlusiQ9UMS0.

Polymorphism and mutation databases

BioMutaiNFU1.
DMDMi205371805.

Proteomic databases

EPDiQ9UMS0.
PaxDbiQ9UMS0.
PeptideAtlasiQ9UMS0.
PRIDEiQ9UMS0.

Protocols and materials databases

DNASUi27247.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000303698; ENSP00000306965; ENSG00000169599. [Q9UMS0-3]
ENST00000394305; ENSP00000377842; ENSG00000169599. [Q9UMS0-2]
ENST00000410022; ENSP00000387219; ENSG00000169599. [Q9UMS0-1]
ENST00000462320; ENSP00000418598; ENSG00000169599. [Q9UMS0-2]
GeneIDi27247.
KEGGihsa:27247.
UCSCiuc002sfj.4. human. [Q9UMS0-1]

Organism-specific databases

CTDi27247.
DisGeNETi27247.
GeneCardsiNFU1.
HGNCiHGNC:16287. NFU1.
HPAiHPA035825.
HPA035826.
MalaCardsiNFU1.
MIMi605711. phenotype.
608100. gene.
neXtProtiNX_Q9UMS0.
OpenTargetsiENSG00000169599.
Orphaneti401869. Fatal multiple mitochondrial dysfunction syndrome type 1.
PharmGKBiPA162397454.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2358. Eukaryota.
COG0694. LUCA.
GeneTreeiENSGT00390000011296.
HOVERGENiHBG054438.
InParanoidiQ9UMS0.
OMAiPVRYMFI.
OrthoDBiEOG091G0MY5.
PhylomeDBiQ9UMS0.
TreeFamiTF315076.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000169599-MONOMER.

Miscellaneous databases

ChiTaRSiNFU1. human.
GenomeRNAii27247.
PROiQ9UMS0.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000169599.
CleanExiHS_NFU1.
ExpressionAtlasiQ9UMS0. baseline and differential.
GenevisibleiQ9UMS0. HS.

Family and domain databases

Gene3Di3.30.1370.70. 1 hit.
InterProiIPR014824. Nfu/NifU_N.
IPR017065. NFU1.
IPR001075. NIF_FeS_clus_asmbl_NifU_C.
[Graphical view]
PANTHERiPTHR11178:SF1. PTHR11178:SF1. 1 hit.
PfamiPF08712. Nfu_N. 1 hit.
PF01106. NifU. 1 hit.
[Graphical view]
ProDomiPD002830. NIF_FeS_clus_asmbl_NifU_C. 1 hit.
[Graphical view] [Entries sharing at least one domain]
SMARTiSM00932. Nfu_N. 1 hit.
[Graphical view]
SUPFAMiSSF110836. SSF110836. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiNFU1_HUMAN
AccessioniPrimary (citable) accession number: Q9UMS0
Secondary accession number(s): B4DUL9
, Q53QE5, Q6VNZ8, Q7Z5B1, Q7Z5B2, Q9Y322
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 13, 2002
Last sequence update: September 2, 2008
Last modified: November 30, 2016
This is version 139 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.