UniProtKB - Q7L592 (NDUF7_HUMAN)
Protein arginine methyltransferase NDUFAF7, mitochondrial
NDUFAF7
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 PublicationsCaution
Catalytic activityi
- L-arginyl-[protein] + 2 S-adenosyl-L-methionine = 2 H+ + Nω,Nω'-dimethyl-L-arginyl-[protein] + 2 S-adenosyl-L-homocysteine1 PublicationEC:2.1.1.3201 Publication
GO - Molecular functioni
- enzyme binding Source: UniProtKB
- methyltransferase activity Source: UniProtKB
- protein-arginine omega-N symmetric methyltransferase activity Source: UniProtKB
GO - Biological processi
- mitochondrial respiratory chain complex I assembly Source: UniProtKB
- peptidyl-arginine methylation, to symmetrical-dimethyl arginine Source: UniProtKB
Keywordsi
Molecular function | Methyltransferase, Transferase |
Enzyme and pathway databases
PathwayCommonsi | Q7L592 |
Reactomei | R-HSA-6799198, Complex I biogenesis |
SignaLinki | Q7L592 |
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 | ORF Names:PRO1853 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:28816, NDUFAF7 |
MIMi | 615898, gene |
neXtProti | NX_Q7L592 |
VEuPathDBi | HostDB:ENSG00000003509 |
Subcellular locationi
Mitochondrion
- Mitochondrion 4 Publications
Extracellular region or secreted
- extracellular space Source: UniProtKB
Mitochondrion
- mitochondrial matrix Source: Reactome
- mitochondrion Source: UniProtKB
Keywords - Cellular componenti
MitochondrionPathology & Biotechi
Involvement in diseasei
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 124 | G → V: Loss of function. 1 Publication | 1 |
Organism-specific databases
DisGeNETi | 55471 |
OpenTargetsi | ENSG00000003509 |
PharmGKBi | PA162379266 |
Miscellaneous databases
Pharosi | Q7L592, Tbio |
Genetic variation databases
BioMutai | NDUFAF7 |
DMDMi | 74749891 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transit peptidei | 1 – 46 | MitochondrionSequence analysisAdd BLAST | 46 | |
ChainiPRO_0000315672 | 47 – 441 | Protein arginine methyltransferase NDUFAF7, mitochondrialAdd BLAST | 395 |
Proteomic databases
EPDi | Q7L592 |
jPOSTi | Q7L592 |
MassIVEi | Q7L592 |
MaxQBi | Q7L592 |
PaxDbi | Q7L592 |
PeptideAtlasi | Q7L592 |
PRIDEi | Q7L592 |
ProteomicsDBi | 68801 [Q7L592-1] 68802 [Q7L592-2] |
PTM databases
iPTMneti | Q7L592 |
PhosphoSitePlusi | Q7L592 |
Expressioni
Gene expression databases
Bgeei | ENSG00000003509, Expressed in testis and 219 other tissues |
ExpressionAtlasi | Q7L592, baseline and differential |
Genevisiblei | Q7L592, HS |
Organism-specific databases
HPAi | ENSG00000003509, Tissue enhanced (testis) |
Interactioni
Subunit structurei
Binary interactionsi
Q7L592
With | #Exp. | IntAct |
---|---|---|
LRRK2 [Q5S007] | 2 | EBI-2555519,EBI-5323863 |
GO - Molecular functioni
- enzyme binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 120676, 68 interactors |
IntActi | Q7L592, 32 interactors |
MINTi | Q7L592 |
STRINGi | 9606.ENSP00000002125 |
Miscellaneous databases
RNActi | Q7L592, protein |
Family & Domainsi
Sequence similaritiesi
Keywords - Domaini
Transit peptidePhylogenomic databases
eggNOGi | KOG2901, Eukaryota |
GeneTreei | ENSGT00390000001588 |
InParanoidi | Q7L592 |
OMAi | YYHPQRN |
OrthoDBi | 491869at2759 |
PhylomeDBi | Q7L592 |
TreeFami | TF314312 |
Family and domain databases
Gene3Di | 3.40.50.12710, 1 hit |
InterProi | View protein in InterPro IPR003788, NDUFAF7 IPR038375, NDUFAF7_sf IPR029063, SAM-dependent_MTases |
PANTHERi | PTHR12049, PTHR12049, 1 hit |
Pfami | View protein in Pfam PF02636, Methyltransf_28, 1 hit |
SUPFAMi | SSF53335, SSF53335, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketC9JEL7 | C9JEL7_HUMAN | Protein arginine methyltransferase ... | NDUFAF7 | 111 | Annotation score: | ||
C9JP36 | C9JP36_HUMAN | Protein arginine methyltransferase ... | NDUFAF7 | 148 | Annotation score: | ||
C9JS27 | C9JS27_HUMAN | Protein arginine methyltransferase ... | NDUFAF7 | 267 | Annotation score: | ||
C9J236 | C9J236_HUMAN | Protein arginine methyltransferase ... | NDUFAF7 | 230 | Annotation score: | ||
H7C3N5 | H7C3N5_HUMAN | Protein arginine methyltransferase ... | NDUFAF7 | 88 | Annotation score: | ||
B4E0W7 | B4E0W7_HUMAN | Protein arginine methyltransferase ... | NDUFAF7 | 137 | Annotation score: |
Sequence cautioni
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_038274 | 39 | P → A. Corresponds to variant dbSNP:rs2714473EnsemblClinVar. | 1 | |
Natural variantiVAR_079608 | 266 | D → E Probable disease-associated variant found in patients with pathologic myopia; may decrease mitochondrial complex I activity; decreases the production of ATP; decreases reactive oxygen species production. 1 Publication | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_030606 | 73 – 99 | Missing in isoform 2. 1 PublicationAdd BLAST | 27 | |
Alternative sequenceiVSP_030607 | 157 – 227 | Missing in isoform 2. 1 PublicationAdd BLAST | 71 |
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. |
CCDSi | CCDS1788.1 [Q7L592-1] CCDS42673.1 [Q7L592-2] |
RefSeqi | NP_001077415.1, NM_001083946.1 [Q7L592-2] NP_653337.1, NM_144736.4 [Q7L592-1] |
Genome annotation databases
Ensembli | ENST00000002125.9; ENSP00000002125.4; ENSG00000003509.16 ENST00000336237.10; ENSP00000337431.6; ENSG00000003509.16 [Q7L592-2] |
GeneIDi | 55471 |
KEGGi | hsa:55471 |
MANE-Selecti | ENST00000002125.9; ENSP00000002125.4; NM_144736.5; NP_653337.1 |
UCSCi | uc002rqa.6, human [Q7L592-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
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. |
CCDSi | CCDS1788.1 [Q7L592-1] CCDS42673.1 [Q7L592-2] |
RefSeqi | NP_001077415.1, NM_001083946.1 [Q7L592-2] NP_653337.1, NM_144736.4 [Q7L592-1] |
3D structure databases
AlphaFoldDBi | Q7L592 |
SMRi | Q7L592 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 120676, 68 interactors |
IntActi | Q7L592, 32 interactors |
MINTi | Q7L592 |
STRINGi | 9606.ENSP00000002125 |
PTM databases
iPTMneti | Q7L592 |
PhosphoSitePlusi | Q7L592 |
Genetic variation databases
BioMutai | NDUFAF7 |
DMDMi | 74749891 |
Proteomic databases
EPDi | Q7L592 |
jPOSTi | Q7L592 |
MassIVEi | Q7L592 |
MaxQBi | Q7L592 |
PaxDbi | Q7L592 |
PeptideAtlasi | Q7L592 |
PRIDEi | Q7L592 |
ProteomicsDBi | 68801 [Q7L592-1] 68802 [Q7L592-2] |
Protocols and materials databases
Antibodypediai | 52425, 121 antibodies from 16 providers |
DNASUi | 55471 |
Genome annotation databases
Ensembli | ENST00000002125.9; ENSP00000002125.4; ENSG00000003509.16 ENST00000336237.10; ENSP00000337431.6; ENSG00000003509.16 [Q7L592-2] |
GeneIDi | 55471 |
KEGGi | hsa:55471 |
MANE-Selecti | ENST00000002125.9; ENSP00000002125.4; NM_144736.5; NP_653337.1 |
UCSCi | uc002rqa.6, human [Q7L592-1] |
Organism-specific databases
CTDi | 55471 |
DisGeNETi | 55471 |
GeneCardsi | NDUFAF7 |
HGNCi | HGNC:28816, NDUFAF7 |
HPAi | ENSG00000003509, Tissue enhanced (testis) |
MIMi | 615898, gene |
neXtProti | NX_Q7L592 |
OpenTargetsi | ENSG00000003509 |
PharmGKBi | PA162379266 |
VEuPathDBi | HostDB:ENSG00000003509 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2901, Eukaryota |
GeneTreei | ENSGT00390000001588 |
InParanoidi | Q7L592 |
OMAi | YYHPQRN |
OrthoDBi | 491869at2759 |
PhylomeDBi | Q7L592 |
TreeFami | TF314312 |
Enzyme and pathway databases
PathwayCommonsi | Q7L592 |
Reactomei | R-HSA-6799198, Complex I biogenesis |
SignaLinki | Q7L592 |
Miscellaneous databases
BioGRID-ORCSi | 55471, 178 hits in 1078 CRISPR screens |
ChiTaRSi | NDUFAF7, human |
GenomeRNAii | 55471 |
Pharosi | Q7L592, Tbio |
PROi | PR:Q7L592 |
RNActi | Q7L592, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000003509, Expressed in testis and 219 other tissues |
ExpressionAtlasi | Q7L592, baseline and differential |
Genevisiblei | Q7L592, HS |
Family and domain databases
Gene3Di | 3.40.50.12710, 1 hit |
InterProi | View protein in InterPro IPR003788, NDUFAF7 IPR038375, NDUFAF7_sf IPR029063, SAM-dependent_MTases |
PANTHERi | PTHR12049, PTHR12049, 1 hit |
Pfami | View protein in Pfam PF02636, Methyltransf_28, 1 hit |
SUPFAMi | SSF53335, SSF53335, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | NDUF7_HUMAN | |
Accessioni | Q7L592Primary (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: | May 25, 2022 | |
This is version 141 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 2
Human chromosome 2: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families