GGRNA Home | Help | Advanced search

2024-03-29 08:18:53, 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:

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
This page is licensed under a Creative Commons Attribution 2.1 Japan License.