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Protein

Protein arginine methyltransferase NDUFAF7, mitochondrial

Gene

NDUFAF7

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

Functioni

Arginine methyltransferase involved in the assembly or stability of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I) (PubMed:20406883, PubMed:24089531, PubMed:24838397). Acts by mediating symmetric dimethylation of 'Arg-118' of NDUFS2 after it assembles into the complex I, stabilizing the early intermediate complex (PubMed:24089531).3 Publications

Caution

Stoichiometry of the protein is unclear. According to a report, it forms a homodimer (PubMed:20406883). According to another publication, it is mainly monomeric (PubMed:24838397).2 Publications

Catalytic activityi

2 S-adenosyl-L-methionine + [protein]-L-arginine = 2 S-adenosyl-L-homocysteine + [protein]-N(omega),N(omega')-dimethyl-L-arginine.1 Publication

GO - Molecular functioni

  • enzyme binding Source: UniProtKB
  • methyltransferase activity Source: UniProtKB
  • protein-arginine omega-N symmetric methyltransferase activity Source: UniProtKB

GO - Biological processi

  • ATP metabolic process Source: GO_Central
  • mitochondrial respiratory chain complex I assembly Source: UniProtKB
  • peptidyl-arginine methylation, to symmetrical-dimethyl arginine Source: UniProtKB

Keywordsi

Molecular functionMethyltransferase, Transferase

Enzyme and pathway databases

ReactomeiR-HSA-6799198 Complex I biogenesis

Names & Taxonomyi

Protein namesi
Recommended name:
Protein arginine methyltransferase NDUFAF7, mitochondrialCurated (EC:2.1.1.3201 Publication)
Alternative name(s):
NADH dehydrogenase [ubiquinone] complex I, assembly factor 7
Protein midA homolog1 Publication
Gene namesi
Name:NDUFAF7Imported
Synonyms:C2orf56Imported
ORF Names:PRO1853
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000003509.15
HGNCiHGNC:28816 NDUFAF7
MIMi615898 gene
neXtProtiNX_Q7L592

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Defects in NDUFAF7 may be a cause of susceptibility to pathologic myopia, a genetically heterogeneous disorder characterized by extreme, familial, early-onset vision loss and described as myopia accompanied by severe deformation of the eye besides excessive elongation of the eye.1 Publication

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi124G → V: Loss of function. 1 Publication1

Organism-specific databases

OpenTargetsiENSG00000003509
PharmGKBiPA162379266

Polymorphism and mutation databases

BioMutaiNDUFAF7
DMDMi74749891

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 46MitochondrionSequence analysisAdd BLAST46
ChainiPRO_000031567247 – 441Protein arginine methyltransferase NDUFAF7, mitochondrialAdd BLAST395

Proteomic databases

EPDiQ7L592
MaxQBiQ7L592
PaxDbiQ7L592
PeptideAtlasiQ7L592
PRIDEiQ7L592
ProteomicsDBi68801
68802 [Q7L592-2]

PTM databases

iPTMnetiQ7L592
PhosphoSitePlusiQ7L592

Expressioni

Gene expression databases

BgeeiENSG00000003509
CleanExiHS_C2orf56
ExpressionAtlasiQ7L592 baseline and differential
GenevisibleiQ7L592 HS

Organism-specific databases

HPAiHPA045217

Interactioni

Subunit structurei

Interacts with NDUFS2 (PubMed:20406883, PubMed:24089531).1 Publication

GO - Molecular functioni

  • enzyme binding Source: UniProtKB

Protein-protein interaction databases

BioGridi120676, 34 interactors
IntActiQ7L592, 7 interactors
STRINGi9606.ENSP00000002125

Structurei

3D structure databases

ProteinModelPortaliQ7L592
SMRiQ7L592
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the NDUFAF7 family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG2901 Eukaryota
COG1565 LUCA
GeneTreeiENSGT00390000001588
HOGENOMiHOG000077514
HOVERGENiHBG108135
InParanoidiQ7L592
KOiK18164
OMAiHEMGELF
OrthoDBiEOG091G0A98
PhylomeDBiQ7L592
TreeFamiTF314312

Family and domain databases

Gene3Di3.40.50.12710, 1 hit
InterProiView protein in InterPro
IPR003788 NDUFAF7
IPR038375 NDUFAF7_sf
IPR029063 SAM-dependent_MTases
PANTHERiPTHR12049 PTHR12049, 1 hit
PfamiView protein in Pfam
PF02636 Methyltransf_28, 1 hit
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: Q7L592-1) [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
MSVLLRSGLG PLCAVARAAI PFIWRGKYFS SGNEPAENPV TPMLRHLMYK
60 70 80 90 100
IKSTGPITVA EYMKEVLTNP AKGYYVYRDM LGEKGDFITS PEISQIFGEL
110 120 130 140 150
LGIWFISEWM ATGKSTAFQL VELGPGRGTL VGDILRVFTQ LGSVLKNCDI
160 170 180 190 200
SVHLVEVSQK LSEIQALTLT KEKVPLERNA GSPVYMKGVT KSGIPISWYR
210 220 230 240 250
DLHDVPKGYS FYLAHEFFDV LPVHKFQKTP QGWREVFVDI DPQVSDKLRF
260 270 280 290 300
VLAPSATPAE AFIQHDETRD HVEVCPDAGV IIEELSQRIA LTGGAALVAD
310 320 330 340 350
YGHDGTKTDT FRGFCDHKLH DVLIAPGTAD LTADVDFSYL RRMAQGKVAS
360 370 380 390 400
LGPIKQHTFL KNMGIDVRLK VLLDKSNEPS VRQQLLQGYD MLMNPKKMGE
410 420 430 440
RFNFFALLPH QRLQGGRYQR NARQSKPFAS VVAGFSELAW Q
Length:441
Mass (Da):49,238
Last modified:July 5, 2004 - v1
Checksum:i9F3D667CCE470623
GO
Isoform 2 (identifier: Q7L592-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     73-99: Missing.
     157-227: Missing.

Note: No experimental confirmation available.
Show »
Length:343
Mass (Da):38,022
Checksum:iAEFBDC33EAAA2AF6
GO

Sequence cautioni

The sequence AAF71091 differs from that shown. Reason: Erroneous initiation.Curated
The sequence AAH12374 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03827439P → A. Corresponds to variant dbSNP:rs2714473EnsemblClinVar.1
Natural variantiVAR_079608266D → E Probable disease-associated mutation found in patients with pathologic myopia; may decrease mitochondrial complex I activity; decreases the production of ATP; decreases reactive oxygen species production. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_03060673 – 99Missing in isoform 2. 1 PublicationAdd BLAST27
Alternative sequenceiVSP_030607157 – 227Missing in isoform 2. 1 PublicationAdd BLAST71

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
BX538031 mRNA Translation: CAD97976.1
AC007390 Genomic DNA Translation: AAY14816.1
CH471053 Genomic DNA Translation: EAX00402.1
BC004548 mRNA Translation: AAH04548.2
BC012374 mRNA Translation: AAH12374.2 Different initiation.
AF116671 mRNA Translation: AAF71091.1 Different initiation.
CCDSiCCDS1788.1 [Q7L592-1]
CCDS42673.1 [Q7L592-2]
RefSeqiNP_001077415.1, NM_001083946.1 [Q7L592-2]
NP_653337.1, NM_144736.4 [Q7L592-1]
UniGeneiHs.433466

Genome annotation databases

EnsembliENST00000002125; ENSP00000002125; ENSG00000003509 [Q7L592-1]
ENST00000336237; ENSP00000337431; ENSG00000003509 [Q7L592-2]
GeneIDi55471
KEGGihsa:55471
UCSCiuc002rqa.6 human [Q7L592-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiNDUF7_HUMAN
AccessioniPrimary (citable) accession number: Q7L592
Secondary accession number(s): Q7Z399, Q9P1G3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: July 5, 2004
Last modified: June 20, 2018
This is version 121 of the entry and version 1 of the sequence. See 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

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