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Protein

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 5

Gene

NDUFAF5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I, MT-ND1) at early stages. May have methyltransferase activity.1 Publication

GO - Molecular functioni

GO - Biological processi

  • mitochondrial respiratory chain complex I assembly Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Methyltransferase, Transferase

Names & Taxonomyi

Protein namesi
Recommended name:
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 5
Alternative name(s):
Probable methyltransferase C20orf7, mitochondrial (EC:2.1.1.-)
Gene namesi
Name:NDUFAF5
Synonyms:C20orf7
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 20

Organism-specific databases

HGNCiHGNC:15899. NDUFAF5.

Subcellular locationi

GO - Cellular componenti

  • extrinsic component of mitochondrial inner membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

Mitochondrial complex I deficiency (MT-C1D)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA 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.

See also OMIM:252010
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti229 – 2291L → P in MT-C1D. 1 Publication
VAR_054119
Leigh syndrome (LS)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionAn 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.

See also OMIM:256000
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti159 – 1591L → F in LS. 1 Publication
VAR_067956

Keywords - Diseasei

Disease mutation, Leigh syndrome

Organism-specific databases

MIMi252010. phenotype.
256000. phenotype.
Orphaneti2609. Isolated NADH-CoQ reductase deficiency.
PharmGKBiPA25780.

Polymorphism and mutation databases

BioMutaiNDUFAF5.
DMDMi74762247.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 3636MitochondrionSequence AnalysisAdd
BLAST
Chaini37 – 345309NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 5PRO_0000307213Add
BLAST

Proteomic databases

MaxQBiQ5TEU4.
PaxDbiQ5TEU4.
PRIDEiQ5TEU4.

PTM databases

PhosphoSiteiQ5TEU4.

Expressioni

Gene expression databases

BgeeiQ5TEU4.
CleanExiHS_C20orf7.
ExpressionAtlasiQ5TEU4. baseline and differential.
GenevisibleiQ5TEU4. HS.

Organism-specific databases

HPAiHPA051184.

Interactioni

Protein-protein interaction databases

BioGridi122554. 17 interactions.
STRINGi9606.ENSP00000367346.

Structurei

3D structure databases

ProteinModelPortaliQ5TEU4.
SMRiQ5TEU4. Positions 94-190.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the methyltransferase superfamily.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiCOG0500.
GeneTreeiENSGT00390000014687.
HOGENOMiHOG000265011.
HOVERGENiHBG107772.
InParanoidiQ5TEU4.
KOiK18162.
OMAiEMEIPTV.
OrthoDBiEOG7WHHB5.
PhylomeDBiQ5TEU4.
TreeFamiTF315222.

Family and domain databases

Gene3Di3.40.50.150. 1 hit.
InterProiIPR013216. Methyltransf_11.
IPR029063. SAM-dependent_MTases.
[Graphical view]
PfamiPF08241. Methyltransf_11. 1 hit.
[Graphical view]
SUPFAMiSSF53335. SSF53335. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

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

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q5TEU4-1) [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
MLRPAGLWRL CRRPWAARVP AENLGRREVT SGVSPRGSTS PRTLNIFDRD
60 70 80 90 100
LKRKQKNWAA RQPEPTKFDY LKEEVGSRIA DRVYDIPRNF PLALDLGCGR
110 120 130 140 150
GYIAQYLNKE TIGKFFQADI AENALKNSSE TEIPTVSVLA DEEFLPFKEN
160 170 180 190 200
TFDLVVSSLS LHWVNDLPRA LEQIHYILKP DGVFIGAMFG GDTLYELRCS
210 220 230 240 250
LQLAETEREG GFSPHISPFT AVNDLGHLLG RAGFNTLTVD TDEIQVNYPG
260 270 280 290 300
MFELMEDLQG MGESNCAWNR KALLHRDTML AAAAVYREMY RNEDGSVPAT
310 320 330 340
YQIYYMIGWK YHESQARPAE RGSATVSFGE LGKINNLMPP GKKSQ
Length:345
Mass (Da):38,918
Last modified:December 21, 2004 - v1
Checksum:i96E1D29B91980026
GO
Isoform 2 (identifier: Q5TEU4-2) [UniParc]FASTAAdd to basket

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

Show »
Length:317
Mass (Da):36,076
Checksum:iA55D8FDE885083AB
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti159 – 1591L → F in LS. 1 Publication
VAR_067956
Natural varianti229 – 2291L → P in MT-C1D. 1 Publication
VAR_054119
Natural varianti337 – 3371L → F.
Corresponds to variant rs6042368 [ dbSNP | Ensembl ].
VAR_035376

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei110 – 16051ETIGK…VSSLS → LQLFHCRKLLESFSKLTLQK MLC in isoform 2. 1 PublicationVSP_028637Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS13118.1. [Q5TEU4-1]
CCDS33441.1. [Q5TEU4-2]
RefSeqiNP_001034464.1. NM_001039375.2. [Q5TEU4-2]
NP_077025.2. NM_024120.4. [Q5TEU4-1]
UniGeneiHs.472165.

Genome annotation databases

EnsembliENST00000378106; ENSP00000367346; ENSG00000101247. [Q5TEU4-1]
ENST00000463598; ENSP00000420497; ENSG00000101247. [Q5TEU4-2]
GeneIDi79133.
KEGGihsa:79133.
UCSCiuc002wom.3. human. [Q5TEU4-1]
uc002won.3. human. [Q5TEU4-2]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS13118.1. [Q5TEU4-1]
CCDS33441.1. [Q5TEU4-2]
RefSeqiNP_001034464.1. NM_001039375.2. [Q5TEU4-2]
NP_077025.2. NM_024120.4. [Q5TEU4-1]
UniGeneiHs.472165.

3D structure databases

ProteinModelPortaliQ5TEU4.
SMRiQ5TEU4. Positions 94-190.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122554. 17 interactions.
STRINGi9606.ENSP00000367346.

PTM databases

PhosphoSiteiQ5TEU4.

Polymorphism and mutation databases

BioMutaiNDUFAF5.
DMDMi74762247.

Proteomic databases

MaxQBiQ5TEU4.
PaxDbiQ5TEU4.
PRIDEiQ5TEU4.

Protocols and materials databases

DNASUi79133.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000378106; ENSP00000367346; ENSG00000101247. [Q5TEU4-1]
ENST00000463598; ENSP00000420497; ENSG00000101247. [Q5TEU4-2]
GeneIDi79133.
KEGGihsa:79133.
UCSCiuc002wom.3. human. [Q5TEU4-1]
uc002won.3. human. [Q5TEU4-2]

Organism-specific databases

CTDi79133.
GeneCardsiGC20P013765.
HGNCiHGNC:15899. NDUFAF5.
HPAiHPA051184.
MIMi252010. phenotype.
256000. phenotype.
612360. gene.
neXtProtiNX_Q5TEU4.
Orphaneti2609. Isolated NADH-CoQ reductase deficiency.
PharmGKBiPA25780.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG0500.
GeneTreeiENSGT00390000014687.
HOGENOMiHOG000265011.
HOVERGENiHBG107772.
InParanoidiQ5TEU4.
KOiK18162.
OMAiEMEIPTV.
OrthoDBiEOG7WHHB5.
PhylomeDBiQ5TEU4.
TreeFamiTF315222.

Miscellaneous databases

GenomeRNAii79133.
NextBioi67997.
PROiQ5TEU4.
SOURCEiSearch...

Gene expression databases

BgeeiQ5TEU4.
CleanExiHS_C20orf7.
ExpressionAtlasiQ5TEU4. baseline and differential.
GenevisibleiQ5TEU4. HS.

Family and domain databases

Gene3Di3.40.50.150. 1 hit.
InterProiIPR013216. Methyltransf_11.
IPR029063. SAM-dependent_MTases.
[Graphical view]
PfamiPF08241. Methyltransf_11. 1 hit.
[Graphical view]
SUPFAMiSSF53335. SSF53335. 1 hit.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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.
    , 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. 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. Cited for: FUNCTION, SUBCELLULAR LOCATION, VARIANT MT-C1D PRO-229.
  6. Cited for: VARIANT LS PHE-159.

Entry informationi

Entry nameiNDUF5_HUMAN
AccessioniPrimary (citable) accession number: Q5TEU4
Secondary accession number(s): A8K166, Q6GPH3, Q9H6F4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 23, 2007
Last sequence update: December 21, 2004
Last modified: June 24, 2015
This is version 95 of the entry and version 1 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 20
    Human chromosome 20: 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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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 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.