KEGG T01001: 4720

Homo sapiens (human): 4720

Entry

4720 CDS T01001

Gene name

NDUFS2, CI-49

Definition

NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase) (EC:1.6.5.3 1.6.99.3)

Orthology

K03935

NADH dehydrogenase (ubiquinone) Fe-S protein 2 [EC:1.6.5.3 1.6.99.3]

Organism

hsa Homo sapiens (human)

Pathway

hsa00190	Oxidative phosphorylation
hsa01100	Metabolic pathways
hsa05010	Alzheimer's disease
hsa05012	Parkinson's disease
hsa05016	Huntington's disease

Module

hsa_M00143

NADH dehydrogenase (ubiquinone) Fe-S protein/flavoprotein complex, mitochondria

Disease

H00473

Mitochondrial respiratory chain deficiencies (MRCD)

Class

Metabolism; Energy metabolism; Oxidative phosphorylation [PATH:hsa00190]
Human Diseases; Neurodegenerative diseases; Alzheimer's disease [PATH:hsa05010]
Human Diseases; Neurodegenerative diseases; Parkinson's disease [PATH:hsa05012]
Human Diseases; Neurodegenerative diseases; Huntington's disease [PATH:hsa05016]

SSDB

Motif

Pfam:

Complex1_49kDa

Other DBs

NCBI-GI:

NCBI-GeneID:

OMIM:

HGNC:

HPRD:

Ensembl:

Vega:

UniProt:

Position

1q23

AA seq 457 aa
MAALRALCGFRGVAAQVLRPGAGVRLPIQPSRGVRQWQPDVEWAQQFGGAVMYPSKETAH
WKPPPWNDVDPPKDTIVKNITLNFGPQHPAAHGVLRLVMELSGEMVRKCDPHIGLLHRGT
EKLIEYKTYLQALPYFDRLDYVSMMCNEQAYSLAVEKLLNIRPPPRAQWIRVLFGEITRL
LNHIMAVTTHALDLGAMTPFFWLFEEREKMFEFYERVSGARMHAAYIRPGGVHQDLPLGL
MDDIYQFSKNFSLRLDELEELLTNNRIWRNRTIDIGVVTAEEALNYGFSGVMLRGSGIQW
DLRKTQPYDVYDQVEFDVPVGSRGDCYDRYLCRVEEMRQSLRIIAQCLNKMPPGEIKVDD
AKVSPPKRAEMKTSMESLIHHFKLYTEGYQVPPGATYTAIEAPKGEFGVYLVSDGSSRPY
RCKIKAPGFAHLAGLDKMSKGHMLADVVAIIGTRPIV

NT seq 1374 nt +upstreamnt +downstreamnt
atggcggcgctgagggctttgtgcggcttccggggcgtcgcggcccaggtgctgcggcct
ggggctggagtccgattgccgattcagcccagcagaggtgttcggcagtggcagccagat
gtggaatgggcacagcagtttgggggagctgttatgtacccaagcaaagaaacagcccac
tggaagcctccaccttggaatgatgtggaccctccaaaggacacaattgtgaagaacatt
accctgaactttgggccccaacacccagcagcgcatggtgtcctgcgactagtgatggaa
ttgagtggggagatggtgcggaagtgtgatcctcacatcgggctcctgcaccgaggcact
gagaagctcattgaatacaagacctatcttcaggcccttccatactttgaccggctagac
tatgtgtccatgatgtgtaacgaacaggcctattctctagctgtggagaagttgctaaac
atccggcctcctcctcgggcacagtggatccgagtgctgtttggagaaatcacacgtttg
ttgaaccacatcatggctgtgaccacacatgccctggaccttggggccatgacccctttc
ttctggctgtttgaagaaagggagaagatgtttgagttctacgagcgagtgtctggagcc
cgaatgcatgctgcttatatccggccaggaggagtgcaccaggacctaccccttgggctt
atggatgacatttatcagttttctaagaacttctctcttcggcttgatgagttggaggag
ttgctgaccaacaataggatctggcgaaatcggacaattgacattggggttgtaacagca
gaagaagcacttaactatggttttagtggagtgatgcttcggggctcaggcatccagtgg
gacctgcggaagacccagccctatgatgtttacgaccaggttgagtttgatgttcctgtt
ggttctcgaggggactgctatgataggtacctgtgccgggtggaggagatgcgccagtcc
ctgagaattatcgcacagtgtctaaacaagatgcctcctggggagatcaaggttgatgat
gccaaagtgtctccacctaagcgagcagagatgaagacttccatggagtcactgattcat
cactttaagttgtatactgagggctaccaagttcctccaggagccacatatactgccatt
gaggctcccaagggagagtttggggtgtacctggtgtctgatggcagcagccgcccttat
cgatgcaagatcaaggctcctggttttgcccatctggctggtttggacaagatgtctaag
ggacacatgttggcagatgtcgttgccatcataggtacgaggcctattgtgtag

All links

Ontology (1)   
   KEGG BRITE (1)   
Pathway (6)   
   KEGG PATHWAY (5)   
   KEGG MODULE (1)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Chemical reaction (2)   
   KEGG ENZYME (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (18)   
   KEGG ORTHOLOGY (1)   
   NCBI-Gene (1)   
   NCBI-GI (10)   
   UniGene (1)   
   HGNC (1)   
   HPRD (1)   
   ENSEMBL-HSA (1)   
   OC (1)   
   VEGA (1)   
Protein sequence (4)   
   UniProt (2)   
   RefSeq(pep) (2)   
DNA sequence (26)   
   RefSeq(nuc) (2)   
   GenBank (12)   
   EMBL (12)   
Protein domain (1)   
   Pfam (1)   
All databases (62)   

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