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2025-05-09 19:33:28, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_002493 873 bp mRNA linear PRI 07-JUL-2013
DEFINITION Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6,
17kDa (NDUFB6), transcript variant 1, mRNA.
ACCESSION NM_002493
VERSION NM_002493.4 GI:316983169
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 873)
AUTHORS Kennedy,R.B., Ovsyannikova,I.G., Pankratz,V.S., Haralambieva,I.H.,
Vierkant,R.A. and Poland,G.A.
TITLE Genome-wide analysis of polymorphisms associated with cytokine
responses in smallpox vaccine recipients
JOURNAL Hum. Genet. 131 (9), 1403-1421 (2012)
PUBMED 22610502
REFERENCE 2 (bases 1 to 873)
AUTHORS Loublier,S., Bayot,A., Rak,M., El-Khoury,R., Benit,P. and Rustin,P.
TITLE The NDUFB6 subunit of the mitochondrial respiratory chain complex I
is required for electron transfer activity: a proof of principle
study on stable and controlled RNA interference in human cell lines
JOURNAL Biochem. Biophys. Res. Commun. 414 (2), 367-372 (2011)
PUBMED 21964293
REMARK GeneRIF: NDUFB6 subunit is required for complex I activity.
REFERENCE 3 (bases 1 to 873)
AUTHORS Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M.,
Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D.,
Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J.
TITLE Genetic variants in nuclear-encoded mitochondrial genes influence
AIDS progression
JOURNAL PLoS ONE 5 (9), E12862 (2010)
PUBMED 20877624
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
Publication Status: Online-Only
REFERENCE 4 (bases 1 to 873)
AUTHORS Kacerovsky-Bielesz,G., Chmelik,M., Ling,C., Pokan,R.,
Szendroedi,J., Farukuoye,M., Kacerovsky,M., Schmid,A.I., Gruber,S.,
Wolzt,M., Moser,E., Pacini,G., Smekal,G., Groop,L. and Roden,M.
TITLE Short-term exercise training does not stimulate skeletal muscle ATP
synthesis in relatives of humans with type 2 diabetes
JOURNAL Diabetes 58 (6), 1333-1341 (2009)
PUBMED 19265027
REMARK GeneRIF: Polymorphism in the NDUFB6 gene from respiratory chain
complex I related to ATP synthesis and insulin sensitivity response
to exercise training found in relatives of humans with type 2
diabetes.
GeneRIF: Clinical trial of gene-disease association and
gene-environment interaction. (HuGE Navigator)
REFERENCE 5 (bases 1 to 873)
AUTHORS Wang,L., McDonnell,S.K., Hebbring,S.J., Cunningham,J.M., St
Sauver,J., Cerhan,J.R., Isaya,G., Schaid,D.J. and Thibodeau,S.N.
TITLE Polymorphisms in mitochondrial genes and prostate cancer risk
JOURNAL Cancer Epidemiol. Biomarkers Prev. 17 (12), 3558-3566 (2008)
PUBMED 19064571
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 6 (bases 1 to 873)
AUTHORS Smeitink,J. and van den Heuvel,L.
TITLE Human mitochondrial complex I in health and disease
JOURNAL Am. J. Hum. Genet. 64 (6), 1505-1510 (1999)
PUBMED 10330338
REMARK Review article
REFERENCE 7 (bases 1 to 873)
AUTHORS Loeffen,J.L., Triepels,R.H., van den Heuvel,L.P., Schuelke,M.,
Buskens,C.A., Smeets,R.J., Trijbels,J.M. and Smeitink,J.A.
TITLE cDNA of eight nuclear encoded subunits of NADH:ubiquinone
oxidoreductase: human complex I cDNA characterization completed
JOURNAL Biochem. Biophys. Res. Commun. 253 (2), 415-422 (1998)
PUBMED 9878551
REFERENCE 8 (bases 1 to 873)
AUTHORS Smeitink,J., Loeffen,J., Smeets,R., Triepels,R., Ruitenbeek,W.,
Trijbels,F. and van den Heuvel,L.
TITLE Molecular characterization and mutational analysis of the human B17
subunit of the mitochondrial respiratory chain complex I
JOURNAL Hum. Genet. 103 (2), 245-250 (1998)
PUBMED 9760212
REFERENCE 9 (bases 1 to 873)
AUTHORS Emahazion,T., Beskow,A., Gyllensten,U. and Brookes,A.J.
TITLE Intron based radiation hybrid mapping of 15 complex I genes of the
human electron transport chain
JOURNAL Cytogenet. Cell Genet. 82 (1-2), 115-119 (1998)
PUBMED 9763677
REFERENCE 10 (bases 1 to 873)
AUTHORS Earley,F.G. and Ragan,C.I.
TITLE Identification of the subunits of bovine heart mitochondrial NADH
dehydrogenase that are exposed to the phospholipid bilayer by
photo-labelling with 5-iodonaphth-1-yl azide
JOURNAL Biochem. J. 191 (2), 429-436 (1980)
PUBMED 7236204
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from CB140469.1, BP208846.1,
BI669356.1 and BG220924.1.
On Jan 5, 2011 this sequence version replaced gi:33519470.
Summary: The protein encoded by this gene is a subunit of the
multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian
complex I is composed of 45 different subunits. It locates at the
mitochondrial inner membrane. This protein has NADH dehydrogenase
activity and oxidoreductase activity. It transfers electrons from
NADH to the respiratory chain. The immediate electron acceptor for
the enzyme is believed to be ubiquinone. Alternative splicing
occurs at this locus and three transcript variants encoding
distinct isoforms have been identified. [provided by RefSeq, Jan
2011].
Transcript Variant: This variant (1) encodes the longest isoform
(1).
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: BI670433.1, BG716746.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025081, ERS025082 [ECO:0000348]
##Evidence-Data-END##
##RefSeq-Attributes-START##
gene product(s) localized to mito. :: reported by MitoCarta
##RefSeq-Attributes-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-2 CB140469.1 1-2
3-585 BP208846.1 1-583
586-736 BI669356.1 520-670
737-873 BG220924.1 348-484
FEATURES Location/Qualifiers
source 1..873
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="9"
/map="9p21.1"
gene 1..873
/gene="NDUFB6"
/gene_synonym="B17; CI"
/note="NADH dehydrogenase (ubiquinone) 1 beta subcomplex,
6, 17kDa"
/db_xref="GeneID:4712"
/db_xref="HGNC:7701"
/db_xref="HPRD:04504"
/db_xref="MIM:603322"
exon 1..304
/gene="NDUFB6"
/gene_synonym="B17; CI"
/inference="alignment:Splign:1.39.8"
variation 36
/gene="NDUFB6"
/gene_synonym="B17; CI"
/replace="c"
/replace="g"
/db_xref="dbSNP:631678"
misc_feature 71..73
/gene="NDUFB6"
/gene_synonym="B17; CI"
/note="upstream in-frame stop codon"
CDS 125..511
/gene="NDUFB6"
/gene_synonym="B17; CI"
/EC_number="1.6.5.3"
/EC_number="1.6.99.3"
/note="isoform 1 is encoded by transcript variant 1;
NADH-ubiquinone oxidoreductase beta subunit, 6;
NADH-ubiquinone oxidoreductase B17 subunit; complex I,
mitochondrial respiratory chain, B17 subunit; NADH
dehydrogenase [ubiquinone] 1 beta subcomplex subunit 6;
CI-B17; complex I-B17"
/codon_start=1
/product="NADH dehydrogenase [ubiquinone] 1 beta
subcomplex subunit 6 isoform 1"
/protein_id="NP_002484.1"
/db_xref="GI:4505365"
/db_xref="CCDS:CCDS6528.1"
/db_xref="GeneID:4712"
/db_xref="HGNC:7701"
/db_xref="HPRD:04504"
/db_xref="MIM:603322"
/translation="
MTGYTPDEKLRLQQLRELRRRWLKDQELSPREPVLPPQKMGPMEKFWNKFLENKSPWRKMVHGVYKKSIFVFTHVLVPVWIIHYYMKYHVSEKPYGIVEKKSRIFPGDTILETGEVIPPMKEFPDQHH
"
misc_feature <197..508
/gene="NDUFB6"
/gene_synonym="B17; CI"
/note="NADH:ubiquinone oxidoreductase, NDUFB6/B17 subunit;
Region: NDUF_B6; pfam09782"
/db_xref="CDD:150450"
misc_feature 326..382
/gene="NDUFB6"
/gene_synonym="B17; CI"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (O95139.3);
transmembrane region"
variation 234
/gene="NDUFB6"
/gene_synonym="B17; CI"
/replace="a"
/replace="c"
/db_xref="dbSNP:11540819"
variation 291
/gene="NDUFB6"
/gene_synonym="B17; CI"
/replace="c"
/replace="t"
/db_xref="dbSNP:3204903"
exon 305..397
/gene="NDUFB6"
/gene_synonym="B17; CI"
/inference="alignment:Splign:1.39.8"
exon 398..442
/gene="NDUFB6"
/gene_synonym="B17; CI"
/inference="alignment:Splign:1.39.8"
exon 443..861
/gene="NDUFB6"
/gene_synonym="B17; CI"
/inference="alignment:Splign:1.39.8"
STS 484..558
/gene="NDUFB6"
/gene_synonym="B17; CI"
/standard_name="G30177"
/db_xref="UniSTS:62369"
STS 486..707
/gene="NDUFB6"
/gene_synonym="B17; CI"
/standard_name="RH81057"
/db_xref="UniSTS:87749"
polyA_signal 507..512
/gene="NDUFB6"
/gene_synonym="B17; CI"
polyA_site 532
/gene="NDUFB6"
/gene_synonym="B17; CI"
polyA_signal 598..603
/gene="NDUFB6"
/gene_synonym="B17; CI"
polyA_site 624
/gene="NDUFB6"
/gene_synonym="B17; CI"
polyA_site 699
/gene="NDUFB6"
/gene_synonym="B17; CI"
STS 721..841
/gene="NDUFB6"
/gene_synonym="B17; CI"
/standard_name="STS-H04756"
/db_xref="UniSTS:57886"
polyA_signal 842..847
/gene="NDUFB6"
/gene_synonym="B17; CI"
polyA_site 861
/gene="NDUFB6"
/gene_synonym="B17; CI"
ORIGIN
gtaataaccgcgcgcggcgctcggcgttcccgcaaggtcgctttgcagagcgggagcgcgcttaagtaactagtccgtagttcgagggtgcgccgtgtccttttgcgttggtaccagcggcgacatgacggggtacactccggatgagaaactgcggctgcagcagctgcgagagctgagaaggcgatggctgaaggaccaggagctgagccctcgggagccggtgctgcccccacagaagatggggcctatggagaaattctggaataaatttttggagaataaatccccttggaggaaaatggtccatggggtatacaaaaagagtatctttgttttcactcatgtacttgtacctgtctggattattcattattacatgaagtatcatgtttctgaaaaaccatatggcatagttgaaaagaagtccagaatattccctggtgatacaattctggagactggagaagtaattccaccaatgaaagaatttcctgatcaacatcattaaagattatgtaaaaagttaaaaggcttatgagcctaagtttgttcctatattaccatatttactgaattttctggaaaagtaactttaataaagtttaatctcagaaattgtcatatctgttttcaagcattgtacaatttgagactgagtaatttaacaataagtaaaaagtggacatgctaaacaaatatgagagactacctactttttctggtcattcttgacttggaaaacggtatggaaaagtatttagttacatgtttgtttgtttttttcttacacagtacttacactaatttggtatcagggtatgcaacagtgaaatatcacaataaacaaatgtaagaacaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:4712 -> Molecular function: GO:0008137 [NADH dehydrogenase (ubiquinone) activity] evidence: NAS
GeneID:4712 -> Biological process: GO:0006120 [mitochondrial electron transport, NADH to ubiquinone] evidence: NAS
GeneID:4712 -> Biological process: GO:0022904 [respiratory electron transport chain] evidence: TAS
GeneID:4712 -> Biological process: GO:0044237 [cellular metabolic process] evidence: TAS
GeneID:4712 -> Biological process: GO:0044281 [small molecule metabolic process] evidence: TAS
GeneID:4712 -> Cellular component: GO:0005634 [nucleus] evidence: IDA
GeneID:4712 -> Cellular component: GO:0005730 [nucleolus] evidence: IDA
GeneID:4712 -> Cellular component: GO:0005739 [mitochondrion] evidence: IDA
GeneID:4712 -> Cellular component: GO:0005743 [mitochondrial inner membrane] evidence: TAS
GeneID:4712 -> Cellular component: GO:0005747 [mitochondrial respiratory chain complex I] evidence: IDA
GeneID:4712 -> Cellular component: GO:0005747 [mitochondrial respiratory chain complex I] evidence: NAS
GeneID:4712 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA
GeneID:4712 -> Cellular component: GO:0031966 [mitochondrial membrane] evidence: IDA
ANNOTATIONS from NCBI Entrez Gene (20130726):
NP_002484 -> EC 1.6.5.3
NP_002484 -> EC 1.6.99.3
by
@meso_cacase at
DBCLS
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