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Q9UMS0 (NFU1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 112. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
NFU1 iron-sulfur cluster scaffold homolog, mitochondrial
Alternative name(s):
HIRA-interacting protein 5
Gene names
Name:NFU1
Synonyms:HIRIP5
ORF Names:CGI-33
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length254 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Iron-sulfur cluster scaffold protein which can assemble [4Fe-2S] clusters and deliver them to target proteins. Ref.3

Subunit structure

Interacts with HIRA and EPM2A/laforin. Ref.2

Subcellular location

Mitochondrion. Cytoplasmcytosol Ref.2 Ref.3 Ref.9.

Tissue specificity

Ubiquitous. Expression in adult lung is weak compared to fetal lung. Ref.2

Developmental stage

Expressed in embryo and adult. Ref.2

Involvement in disease

Multiple mitochondrial dysfunctions syndrome 1 (MMDS1) [MIM:605711]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.9 Ref.12

Sequence similarities

Belongs to the NifU family.

Sequence caution

The sequence AAD27742.1 differs from that shown. Reason: Frameshift at positions 5, 16, 115 and 117.

The sequence AAY14828.1 differs from that shown. Reason: Erroneous gene model prediction.

The sequence BAG36716.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

The sequence CAB53015.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Ontologies

Keywords
   Cellular componentCytoplasm
Mitochondrion
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseDisease mutation
   DomainTransit peptide
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processiron-sulfur cluster assembly

Inferred from direct assay Ref.3. Source: UniProtKB

   Cellular_componentcytosol

Inferred from direct assay Ref.3Ref.2. Source: UniProtKB

mitochondrion

Inferred from direct assay Ref.3. Source: UniProtKB

nucleus

Inferred from direct assay Ref.3. Source: UniProtKB

   Molecular_function4 iron, 4 sulfur cluster binding

Inferred from direct assay Ref.3. Source: UniProtKB

iron ion binding

Inferred from direct assay Ref.3. Source: UniProtKB

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

ORFQ9Q2G43EBI-725252,EBI-6248094From a different organism.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9UMS0-1)

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.
Isoform 2 (identifier: Q9UMS0-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-141: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: Q9UMS0-3)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Transit peptide1 – 99Mitochondrion Potential
Chain10 – 254245NFU1 iron-sulfur cluster scaffold homolog, mitochondrial
PRO_0000166191

Regions

Region173 – 24169NifU

Natural variations

Alternative sequence1 – 141141Missing in isoform 2.
VSP_041224
Alternative sequence1 – 2424Missing in isoform 3.
VSP_041225
Natural variant251M → K. Ref.2 Ref.5
Corresponds to variant rs4453725 [ dbSNP | Ensembl ].
VAR_044429
Natural variant2081G → C in MMDS1. Ref.12
VAR_066639

Experimental info

Sequence conflict1581S → P in AAD27742. Ref.4

Secondary structure

............................... 254
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified September 2, 2008. Version 2.
Checksum: E84B7F47A4A282CF

FASTA25428,463
        10         20         30         40         50         60 
MAATARRGWG AAAVAAGLRR RFCHMLKNPY TIKKQPLHQF VQRPLFPLPA AFYHPVRYMF 

        70         80         90        100        110        120 
IQTQDTPNPN SLKFIPGKPV LETRTMDFPT PAAAFRSPLA RQLFRIEGVK SVFFGPDFIT 

       130        140        150        160        170        180 
VTKENEELDW NLLKPDIYAT IMDFFASGLP LVTEETPSGE AGSEEDDEVV AMIKELLDTR 

       190        200        210        220        230        240 
IRPTVQEDGG DVIYKGFEDG IVQLKLQGSC TSCPSSIITL KNGIQNMLQF YIPEVEGVEQ 

       250 
VMDDESDEKE ANSP 

« Hide

Isoform 2 [UniParc].

Checksum: C46A36AEC7E4C515
Show »

FASTA11312,347
Isoform 3 [UniParc].

Checksum: 2B953543B3A68DCC
Show »

FASTA23025,924

References

« Hide 'large scale' references
[1]"Identification of human and mouse HIRA-interacting protein-5 (HIRIP5), two mammalian representatives in a family of phylogenetically conserved proteins with a role in the biogenesis of Fe/S proteins."
Lorain S., Lecluse Y., Scamps C., Mattei M.-G., Lipinski M.
Biochim. Biophys. Acta 1517:376-383(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
Tissue: Myeloid leukemia cell.
[2]"The Lafora disease gene product laforin interacts with HIRIP5, a phylogenetically conserved protein containing a NifU-like domain."
Ganesh S., Tsurutani N., Suzuki T., Ueda K., Agarwala K.L., Osada H., Delgado-Escueta A.V., Yamakawa K.
Hum. Mol. Genet. 12:2359-2368(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), INTERACTION WITH EPM2A, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE, VARIANT LYS-25.
Tissue: Brain.
[3]"Subcellular compartmentalization of human Nfu, an iron-sulfur cluster scaffold protein, and its ability to assemble a [4Fe-4S] cluster."
Tong W.-H., Jameson G.N.L., Huynh B.H., Rouault T.A.
Proc. Natl. Acad. Sci. U.S.A. 100:9762-9767(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 3), FUNCTION, SUBCELLULAR LOCATION.
[4]"Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics."
Lai C.-H., Chou C.-Y., Ch'ang L.-Y., Liu C.-S., Lin W.-C.
Genome Res. 10:703-713(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
[5]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANT LYS-25.
Tissue: Skeletal muscle.
[6]"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. expand/collapse author list , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Cerebellum.
[9]"Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes."
Cameron J.M., Janer A., Levandovskiy V., Mackay N., Rouault T.A., Tong W.H., Ogilvie I., Shoubridge E.A., Robinson B.H.
Am. J. Hum. Genet. 89:486-495(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, INVOLVEMENT IN MMDS1.
[10]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[11]"Solution NMR structure of NFU1 iron-sulfur cluster scaffold homolog from Homo sapiens, Northeast structural genomics consortium (NESG) target HR2876B."
Northeast structural genomics consortium (NESG)
Submitted (AUG-2012) to the PDB data bank
Cited for: STRUCTURE BY NMR OF 59-155.
[12]"A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins."
Navarro-Sastre A., Tort F., Stehling O., Uzarska M.A., Arranz J.A., Del Toro M., Labayru M.T., Landa J., Font A., Garcia-Villoria J., Merinero B., Ugarte M., Gutierrez-Solana L.G., Campistol J., Garcia-Cazorla A., Vaquerizo J., Riudor E., Briones P. expand/collapse author list , Elpeleg O., Ribes A., Lill R.
Am. J. Hum. Genet. 89:656-667(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MMDS1 CYS-208.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001002755.1. NM_001002755.2.
NP_001002756.1. NM_001002756.2.
NP_056515.2. NM_015700.3.
UniGeneHs.430439.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
2LTMNMR-A59-155[»]
2M5ONMR-A162-247[»]
ProteinModelPortalQ9UMS0.
SMRQ9UMS0. Positions 59-155, 164-247.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid118095. 5 interactions.
IntActQ9UMS0. 4 interactions.
MINTMINT-1388264.
STRING9606.ENSP00000387219.

Polymorphism databases

DMDM205371805.

Proteomic databases

PaxDbQ9UMS0.
PRIDEQ9UMS0.

Protocols and materials databases

DNASU27247.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000303698; ENSP00000306965; ENSG00000169599. [Q9UMS0-3]
ENST00000394305; ENSP00000377842; ENSG00000169599. [Q9UMS0-2]
ENST00000410022; ENSP00000387219; ENSG00000169599. [Q9UMS0-1]
ENST00000462320; ENSP00000418598; ENSG00000169599. [Q9UMS0-2]
GeneID27247.
KEGGhsa:27247.
UCSCuc002sfj.3. human. [Q9UMS0-1]
uc002sfl.3. human. [Q9UMS0-2]

Organism-specific databases

CTD27247.
GeneCardsGC02M069622.
HGNCHGNC:16287. NFU1.
HPAHPA035825.
MIM605711. phenotype.
608100. gene.
neXtProtNX_Q9UMS0.
Orphanet293838. Fatal infantile encephalopathy-pulmonary hypertension syndrome.
289573. Fatal multiple mitochondrial dysfunction syndrome.
PharmGKBPA162397454.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0694.
HOVERGENHBG054438.
InParanoidQ9UMS0.
OMAGAIMEHF.
OrthoDBEOG7SXW47.
PhylomeDBQ9UMS0.
TreeFamTF315076.

Gene expression databases

ArrayExpressQ9UMS0.
BgeeQ9UMS0.
CleanExHS_NFU1.
GenevestigatorQ9UMS0.

Family and domain databases

Gene3D3.30.1370.70. 1 hit.
InterProIPR017065. HIRA-interacting_protein_5.
IPR014824. NIF_FeS_clus_asmbl_NifU-like_N.
IPR001075. NIF_FeS_clus_asmbl_NifU_C.
[Graphical view]
PfamPF08712. Nfu_N. 1 hit.
PF01106. NifU. 1 hit.
[Graphical view]
PIRSFPIRSF036773. HIRIP5. 1 hit.
ProDomPD002830. NIF_FeS_clus_asmbl_NifU_C. 1 hit.
[Graphical view] [Entries sharing at least one domain]
SMARTSM00932. Nfu_N. 1 hit.
[Graphical view]
SUPFAMSSF110836. SSF110836. 1 hit.
ProtoNetSearch...

Other

ChiTaRSNFU1. human.
GenomeRNAi27247.
NextBio50161.
PROQ9UMS0.
SOURCESearch...

Entry information

Entry nameNFU1_HUMAN
AccessionPrimary (citable) accession number: Q9UMS0
Secondary accession number(s): B4DUL9 expand/collapse secondary AC list , Q53QE5, Q6VNZ8, Q7Z5B1, Q7Z5B2, Q9Y322
Entry history
Integrated into UniProtKB/Swiss-Prot: August 13, 2002
Last sequence update: September 2, 2008
Last modified: April 16, 2014
This is version 112 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 2

Human chromosome 2: entries, gene names and cross-references to MIM