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Protein

Protein arginine methyltransferase NDUFAF7, mitochondrial

Gene

NDUFAF7

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

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
Complete GO annotation...

Keywords - Molecular functioni

Methyltransferase, 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

HGNCiHGNC:28816. NDUFAF7.

Subcellular locationi

GO - Cellular componenti

  • extracellular space Source: UniProtKB
  • mitochondrial matrix Source: Reactome
  • mitochondrion Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

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.

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. 26 interactors.
IntActiQ7L592. 4 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.
OMAiYYVYRDM.
OrthoDBiEOG091G0A98.
PhylomeDBiQ7L592.
TreeFamiTF314312.

Family and domain databases

InterProiIPR003788. MidA.
IPR029063. SAM-dependent_MTases.
[Graphical view]
PANTHERiPTHR12049. PTHR12049. 1 hit.
PfamiPF02636. Methyltransf_28. 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: 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 rs2714473dbSNPEnsembl.1

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

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ7L592.
SMRiQ7L592.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120676. 26 interactors.
IntActiQ7L592. 4 interactors.
STRINGi9606.ENSP00000002125.

PTM databases

iPTMnetiQ7L592.
PhosphoSitePlusiQ7L592.

Polymorphism and mutation databases

BioMutaiNDUFAF7.
DMDMi74749891.

Proteomic databases

EPDiQ7L592.
MaxQBiQ7L592.
PaxDbiQ7L592.
PeptideAtlasiQ7L592.
PRIDEiQ7L592.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi55471.
GeneCardsiNDUFAF7.
HGNCiHGNC:28816. NDUFAF7.
HPAiHPA045217.
MIMi615898. gene.
neXtProtiNX_Q7L592.
OpenTargetsiENSG00000003509.
PharmGKBiPA162379266.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

ReactomeiR-HSA-6799198. Complex I biogenesis.

Miscellaneous databases

GenomeRNAii55471.
PROiQ7L592.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000003509.
CleanExiHS_C2orf56.
ExpressionAtlasiQ7L592. baseline and differential.
GenevisibleiQ7L592. HS.

Family and domain databases

InterProiIPR003788. MidA.
IPR029063. SAM-dependent_MTases.
[Graphical view]
PANTHERiPTHR12049. PTHR12049. 1 hit.
PfamiPF02636. Methyltransf_28. 1 hit.
[Graphical view]
SUPFAMiSSF53335. SSF53335. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiNDUF7_HUMAN
AccessioniPrimary (citable) accession number: Q7L592
Secondary accession number(s): Q7Z399, Q9P1G3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: July 5, 2004
Last modified: November 30, 2016
This is version 110 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

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

Keywords - Technical termi

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. SIMILARITY comments
    Index of protein domains and families

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 one 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.