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Q9UMS0

- NFU1_HUMAN

UniProt

Q9UMS0 - NFU1_HUMAN

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Protein
NFU1 iron-sulfur cluster scaffold homolog, mitochondrial
Gene
NFU1, HIRIP5, CGI-33
Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. 4 iron, 4 sulfur cluster binding Source: UniProtKB
  2. iron ion binding Source: UniProtKB
  3. protein binding Source: IntAct

GO - Biological processi

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

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
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:16287. NFU1.

Subcellular locationi

Mitochondrion. Cytoplasmcytosol 3 Publications

GO - Cellular componenti

  1. cytosol Source: UniProtKB
  2. mitochondrion Source: UniProtKB
  3. nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Mitochondrion

Pathology & Biotechi

Involvement in diseasei

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.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti208 – 2081G → C in MMDS1. 1 Publication
VAR_066639

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi605711. phenotype.
Orphaneti293838. Fatal infantile encephalopathy-pulmonary hypertension syndrome.
289573. Fatal multiple mitochondrial dysfunction syndrome.
PharmGKBiPA162397454.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 99Mitochondrion Reviewed prediction
Chaini10 – 254245NFU1 iron-sulfur cluster scaffold homolog, mitochondrial
PRO_0000166191Add
BLAST

Proteomic databases

MaxQBiQ9UMS0.
PaxDbiQ9UMS0.
PRIDEiQ9UMS0.

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

ArrayExpressiQ9UMS0.
BgeeiQ9UMS0.
CleanExiHS_NFU1.
GenevestigatoriQ9UMS0.

Organism-specific databases

HPAiHPA035825.

Interactioni

Subunit structurei

Interacts with HIRA and EPM2A/laforin.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
ORFQ9Q2G43EBI-725252,EBI-6248094From a different organism.

Protein-protein interaction databases

BioGridi118095. 5 interactions.
IntActiQ9UMS0. 4 interactions.
MINTiMINT-1388264.
STRINGi9606.ENSP00000387219.

Structurei

Secondary structure

Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi62 – 643
Beta strandi71 – 755
Beta strandi80 – 834
Beta strandi86 – 883
Helixi93 – 964
Helixi98 – 1036
Beta strandi109 – 1157
Beta strandi118 – 1258
Helixi130 – 14718
Helixi167 – 18822
Beta strandi192 – 1987
Beta strandi201 – 2066
Turni208 – 2125
Helixi214 – 23118
Beta strandi237 – 2404

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2LTMNMR-A59-155[»]
2M5ONMR-A162-247[»]
ProteinModelPortaliQ9UMS0.
SMRiQ9UMS0. Positions 59-155, 164-247.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni173 – 24169NifU
Add
BLAST

Sequence similaritiesi

Belongs to the NifU family.

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiCOG0694.
HOVERGENiHBG054438.
InParanoidiQ9UMS0.
OMAiIMDHFTS.
OrthoDBiEOG7SXW47.
PhylomeDBiQ9UMS0.
TreeFamiTF315076.

Family and domain databases

Gene3Di3.30.1370.70. 1 hit.
InterProiIPR017065. HIRA-interacting_protein_5.
IPR014824. Nfu/NifU_N.
IPR001075. NIF_FeS_clus_asmbl_NifU_C.
[Graphical view]
PfamiPF08712. Nfu_N. 1 hit.
PF01106. NifU. 1 hit.
[Graphical view]
PIRSFiPIRSF036773. HIRIP5. 1 hit.
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. Align

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

MAATARRGWG AAAVAAGLRR RFCHMLKNPY TIKKQPLHQF VQRPLFPLPA    50
AFYHPVRYMF IQTQDTPNPN SLKFIPGKPV LETRTMDFPT PAAAFRSPLA 100
RQLFRIEGVK SVFFGPDFIT VTKENEELDW NLLKPDIYAT IMDFFASGLP 150
LVTEETPSGE AGSEEDDEVV AMIKELLDTR IRPTVQEDGG DVIYKGFEDG 200
IVQLKLQGSC TSCPSSIITL KNGIQNMLQF YIPEVEGVEQ VMDDESDEKE 250
ANSP 254
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 AAD27742.1 differs from that shown. Reason: Frameshift at positions 5, 16, 115 and 117.
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.
The sequence AAY14828.1 differs from that shown. Reason: Erroneous gene model prediction.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti25 – 251M → K.2 Publications
Corresponds to variant rs4453725 [ dbSNP | Ensembl ].
VAR_044429
Natural varianti208 – 2081G → C in MMDS1. 1 Publication
VAR_066639

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 141141Missing in isoform 2.
VSP_041224Add
BLAST
Alternative sequencei1 – 2424Missing in isoform 3.
VSP_041225Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti158 – 1581S → P in AAD27742. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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_006712051.1. XM_006711988.1. [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.3. human. [Q9UMS0-1]
uc002sfl.3. human. [Q9UMS0-2]

Polymorphism databases

DMDMi205371805.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS33217.1. [Q9UMS0-1 ]
CCDS42694.1. [Q9UMS0-2 ]
CCDS46315.1. [Q9UMS0-3 ]
RefSeqi NP_001002755.1. NM_001002755.2. [Q9UMS0-1 ]
NP_001002756.1. NM_001002756.2. [Q9UMS0-2 ]
NP_056515.2. NM_015700.3. [Q9UMS0-3 ]
XP_006712051.1. XM_006711988.1. [Q9UMS0-3 ]
UniGenei Hs.430439.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
2LTM NMR - A 59-155 [» ]
2M5O NMR - A 162-247 [» ]
ProteinModelPortali Q9UMS0.
SMRi Q9UMS0. Positions 59-155, 164-247.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 118095. 5 interactions.
IntActi Q9UMS0. 4 interactions.
MINTi MINT-1388264.
STRINGi 9606.ENSP00000387219.

Polymorphism databases

DMDMi 205371805.

Proteomic databases

MaxQBi Q9UMS0.
PaxDbi Q9UMS0.
PRIDEi Q9UMS0.

Protocols and materials databases

DNASUi 27247.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000303698 ; ENSP00000306965 ; ENSG00000169599 . [Q9UMS0-3 ]
ENST00000394305 ; ENSP00000377842 ; ENSG00000169599 . [Q9UMS0-2 ]
ENST00000410022 ; ENSP00000387219 ; ENSG00000169599 . [Q9UMS0-1 ]
ENST00000462320 ; ENSP00000418598 ; ENSG00000169599 . [Q9UMS0-2 ]
GeneIDi 27247.
KEGGi hsa:27247.
UCSCi uc002sfj.3. human. [Q9UMS0-1 ]
uc002sfl.3. human. [Q9UMS0-2 ]

Organism-specific databases

CTDi 27247.
GeneCardsi GC02M069622.
HGNCi HGNC:16287. NFU1.
HPAi HPA035825.
MIMi 605711. phenotype.
608100. gene.
neXtProti NX_Q9UMS0.
Orphaneti 293838. Fatal infantile encephalopathy-pulmonary hypertension syndrome.
289573. Fatal multiple mitochondrial dysfunction syndrome.
PharmGKBi PA162397454.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0694.
HOVERGENi HBG054438.
InParanoidi Q9UMS0.
OMAi IMDHFTS.
OrthoDBi EOG7SXW47.
PhylomeDBi Q9UMS0.
TreeFami TF315076.

Miscellaneous databases

ChiTaRSi NFU1. human.
GenomeRNAii 27247.
NextBioi 50161.
PROi Q9UMS0.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9UMS0.
Bgeei Q9UMS0.
CleanExi HS_NFU1.
Genevestigatori Q9UMS0.

Family and domain databases

Gene3Di 3.30.1370.70. 1 hit.
InterProi IPR017065. HIRA-interacting_protein_5.
IPR014824. Nfu/NifU_N.
IPR001075. NIF_FeS_clus_asmbl_NifU_C.
[Graphical view ]
Pfami PF08712. Nfu_N. 1 hit.
PF01106. NifU. 1 hit.
[Graphical view ]
PIRSFi PIRSF036773. HIRIP5. 1 hit.
ProDomi PD002830. NIF_FeS_clus_asmbl_NifU_C. 1 hit.
[Graphical view ] [Entries sharing at least one domain ]
SMARTi SM00932. Nfu_N. 1 hit.
[Graphical view ]
SUPFAMi SSF110836. SSF110836. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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.
    , 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. 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. 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. Cited for: VARIANT MMDS1 CYS-208.

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: September 3, 2014
This is version 116 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

External Data

Dasty 3

Similar proteinsi