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Q5TEU4 (NDUF5_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 90. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 5
Alternative name(s):
Probable methyltransferase C20orf7, mitochondrial
EC=2.1.1.-
Gene names
Name:NDUFAF5
Synonyms:C20orf7
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length345 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I, MT-ND1) at early stages. May have methyltransferase activity. Ref.5

Subcellular location

Mitochondrion inner membrane. Note: Peripherally localized on the matrix face of the mitochondrial inner membrane. Ref.5

Involvement in disease

Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]: A disorder of the mitochondrial respiratory chain that causes a wide range of clinical manifestations from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5

Leigh syndrome (LS) [MIM:256000]: An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6

Sequence similarities

Belongs to the methyltransferase superfamily.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q5TEU4-1)

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: Q5TEU4-2)

The sequence of this isoform differs from the canonical sequence as follows:
     110-160: ETIGKFFQADIAENALKNSSETEIPTVSVLADEEFLPFKENTFDLVVSSLS → LQLFHCRKLLESFSKLTLQKMLC

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Transit peptide1 – 3636Mitochondrion Potential
Chain37 – 345309NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 5
PRO_0000307213

Natural variations

Alternative sequence110 – 16051ETIGK…VSSLS → LQLFHCRKLLESFSKLTLQK MLC in isoform 2.
VSP_028637
Natural variant1591L → F in LS. Ref.6
VAR_067956
Natural variant2291L → P in MT-C1D. Ref.5
VAR_054119
Natural variant3371L → F.
Corresponds to variant rs6042368 [ dbSNP | Ensembl ].
VAR_035376

Sequences

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

Last modified December 21, 2004. Version 1.
Checksum: 96E1D29B91980026

FASTA34538,918
        10         20         30         40         50         60 
MLRPAGLWRL CRRPWAARVP AENLGRREVT SGVSPRGSTS PRTLNIFDRD LKRKQKNWAA 

        70         80         90        100        110        120 
RQPEPTKFDY LKEEVGSRIA DRVYDIPRNF PLALDLGCGR GYIAQYLNKE TIGKFFQADI 

       130        140        150        160        170        180 
AENALKNSSE TEIPTVSVLA DEEFLPFKEN TFDLVVSSLS LHWVNDLPRA LEQIHYILKP 

       190        200        210        220        230        240 
DGVFIGAMFG GDTLYELRCS LQLAETEREG GFSPHISPFT AVNDLGHLLG RAGFNTLTVD 

       250        260        270        280        290        300 
TDEIQVNYPG MFELMEDLQG MGESNCAWNR KALLHRDTML AAAAVYREMY RNEDGSVPAT 

       310        320        330        340 
YQIYYMIGWK YHESQARPAE RGSATVSFGE LGKINNLMPP GKKSQ 

« Hide

Isoform 2 [UniParc].

Checksum: A55D8FDE885083AB
Show »

FASTA31736,076

References

« Hide 'large scale' references
[1]"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] (ISOFORM 1).
Tissue: Brain.
[2]"The DNA sequence and comparative analysis of human chromosome 20."
Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E. expand/collapse author list , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.
Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]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].
[4]"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 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 50-345 (ISOFORM 1).
Tissue: Pancreas.
[5]"Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease."
Sugiana C., Pagliarini D.J., McKenzie M., Kirby D.M., Salemi R., Abu-Amero K.K., Dahl H.-H.M., Hutchison W.M., Vascotto K.A., Smith S.M., Newbold R.F., Christodoulou J., Calvo S., Mootha V.K., Ryan M.T., Thorburn D.R.
Am. J. Hum. Genet. 83:468-478(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION, VARIANT MT-C1D PRO-229.
[6]"Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome."
Gerards M., Sluiter W., van den Bosch B.J., de Wit L.E., Calis C.M., Frentzen M., Akbari H., Schoonderwoerd K., Scholte H.R., Jongbloed R.J., Hendrickx A.T., de Coo I.F., Smeets H.J.
J. Med. Genet. 47:507-512(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT LS PHE-159.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK025977 mRNA. Translation: BAB15305.1.
AK289781 mRNA. Translation: BAF82470.1.
AL161659, AL109657 Genomic DNA. Translation: CAI15136.1.
AL161659, AL109657 Genomic DNA. Translation: CAI15137.1.
AL109657, AL161659 Genomic DNA. Translation: CAI22985.1.
AL109657, AL161659 Genomic DNA. Translation: CAI22986.1.
CH471133 Genomic DNA. Translation: EAX10311.1.
BC005984 mRNA. Translation: AAH05984.1.
BC073158 mRNA. Translation: AAH73158.1.
CCDSCCDS13118.1. [Q5TEU4-1]
CCDS33441.1. [Q5TEU4-2]
RefSeqNP_001034464.1. NM_001039375.2. [Q5TEU4-2]
NP_077025.2. NM_024120.4. [Q5TEU4-1]
UniGeneHs.472165.

3D structure databases

ProteinModelPortalQ5TEU4.
SMRQ5TEU4. Positions 94-190.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid122554. 1 interaction.
STRING9606.ENSP00000367346.

PTM databases

PhosphoSiteQ5TEU4.

Polymorphism databases

DMDM74762247.

Proteomic databases

MaxQBQ5TEU4.
PaxDbQ5TEU4.
PRIDEQ5TEU4.

Protocols and materials databases

DNASU79133.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000378106; ENSP00000367346; ENSG00000101247. [Q5TEU4-1]
ENST00000463598; ENSP00000420497; ENSG00000101247. [Q5TEU4-2]
GeneID79133.
KEGGhsa:79133.
UCSCuc002wom.3. human. [Q5TEU4-1]
uc002won.3. human. [Q5TEU4-2]

Organism-specific databases

CTD79133.
GeneCardsGC20P013765.
HGNCHGNC:15899. NDUFAF5.
HPAHPA051184.
MIM252010. phenotype.
256000. phenotype.
612360. gene.
neXtProtNX_Q5TEU4.
Orphanet2609. Isolated NADH-CoQ reductase deficiency.
PharmGKBPA25780.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0500.
HOGENOMHOG000265011.
HOVERGENHBG107772.
InParanoidQ5TEU4.
KOK18162.
OMAEMEIPTV.
OrthoDBEOG7WHHB5.
PhylomeDBQ5TEU4.
TreeFamTF315222.

Gene expression databases

ArrayExpressQ5TEU4.
BgeeQ5TEU4.
CleanExHS_C20orf7.
GenevestigatorQ5TEU4.

Family and domain databases

Gene3D3.40.50.150. 1 hit.
InterProIPR013216. Methyltransf_11.
IPR029063. SAM-dependent_MTases-like.
[Graphical view]
PfamPF08241. Methyltransf_11. 1 hit.
[Graphical view]
SUPFAMSSF53335. SSF53335. 1 hit.
ProtoNetSearch...

Other

GenomeRNAi79133.
NextBio67997.
PROQ5TEU4.
SOURCESearch...

Entry information

Entry nameNDUF5_HUMAN
AccessionPrimary (citable) accession number: Q5TEU4
Secondary accession number(s): A8K166, Q6GPH3, Q9H6F4
Entry history
Integrated into UniProtKB/Swiss-Prot: October 23, 2007
Last sequence update: December 21, 2004
Last modified: July 9, 2014
This is version 90 of the entry and version 1 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

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 20

Human chromosome 20: entries, gene names and cross-references to MIM