| Tag | Content |
|---|---|
| UniProt Accession | NDUS2_HUMAN; O75306; |
| Entrez ID | 4720 |
| GenBank Protein ID | NM_001166159.1; NM_004550.4; XM_005245208.2; XM_017001357.1; |
| GenBank Nucleotide ID | NP_001159631.1; NP_004541.1; XP_005245265.1; XP_016856846.1; |
| Protein Name | NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial (EC 1.6.5.3) (EC 1.6.99.3) (Complex I-49kD) (CI-49kD) (NADH-ubiquinone oxidoreductase 49 kDa subunit) |
| Gene Name | NDUFS2 |
| Organism | Homo sapiens |
| NCBI Taxa ID | 9606 |
| Functional Description | Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (PubMed:12611891). |
| Sequence (Fasta) | MAALRALCGF RGVAAQVLRP GAGVRLPIQP SRGVRQWQPD VEWAQQFGGA VMYPSKETAH 60 WKPPPWNDVD PPKDTIVKNI TLNFGPQHPA AHGVLRLVME LSGEMVRKCD PHIGLLHRGT 120 EKLIEYKTYL QALPYFDRLD YVSMMCNEQA YSLAVEKLLN IRPPPRAQWI RVLFGEITRL 180 LNHIMAVTTH ALDLGAMTPF FWLFEEREKM FEFYERVSGA RMHAAYIRPG GVHQDLPLGL 240 MDDIYQFSKN FSLRLDELEE LLTNNRIWRN RTIDIGVVTA EEALNYGFSG VMLRGSGIQW 300 DLRKTQPYDV YDQVEFDVPV GSRGDCYDRY LCRVEEMRQS LRIIAQCLNK MPPGEIKVDD 360 AKVSPPKRAE MKTSMESLIH HFKLYTEGYQ VPPGATYTAI EAPKGEFGVY LVSDGSSRPY 420 RCKIKAPGFA HLAGLDKMSK GHMLADVVAI IGTQDIVFGE VDR 464 |
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| Database | Annotation |
|---|---|
| CTD (Curated) (count: 3) | MESH:D009202
; Cardiomyopathies MESH:C537475 ; Mitochondrial complex I deficiency MESH:D017237 ; Mitochondrial Encephalomyopathies |
| HGMD (count: 4) | CM045974; Isolated Complex I deficiency; Missense/nonsense
CM010350; Isolated Complex I deficiency; Missense/nonsense CM010351; Isolated Complex I deficiency; Missense/nonsense CM010352; Isolated Complex I deficiency; Missense/nonsense |
| GWASdb (count: 3) | rs3813624; Lung function (forced expiratory volume in 1 second); lung disease
rs10908826; Lung function (forced expiratory volume in 1 second); lung disease rs3924264; Type 2 diabetes; type 2 diabetes mellitus |
| PTM | Modification Sites |
|---|---|
| Phosphorylation (count: 3) | 141 PYFDRLDYVSMMCNE dbPAF
272 NRIWRNRTIDIGVVT dbPAF 364 KVDDAKVSPPKRAEM dbPAF |
| Acetylation (count: 3) | 350 IIAQCLNKMPPGEIK PLMD
357 KMPPGEIKVDDAKVS PLMD 425 RPYRCKIKAPGFAHL PLMD |
| Ubiquitination (count: 3) | 127 TEKLIEYKTYLQALP PLMD
209 WLFEEREKMFEFYER PLMD 304 GIQWDLRKTQPYDVY PLMD |
| Network | Interaction | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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