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Homo sapiens NADH:ubiquinone oxidoreductase core subunit S1 (NDUFS1), transcript variant 1, mRNA

NCBI Reference Sequence: NM_005006.6

FASTA Graphics 

LOCUS       NM_005006               3473 bp    mRNA    linear   PRI 04-MAY-2019
DEFINITION  Homo sapiens NADH:ubiquinone oxidoreductase core subunit S1
            (NDUFS1), transcript variant 1, mRNA.
ACCESSION   NM_005006
VERSION     NM_005006.6
KEYWORDS    RefSeq; RefSeq Select.
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 3473)
  AUTHORS   Su CY, Chang YC, Yang CJ, Huang MS and Hsiao M.
  TITLE     The opposite prognostic effect of NDUFS1 and NDUFS8 in lung cancer
            reflects the oncojanus role of mitochondrial complex I
  JOURNAL   Sci Rep 6, 31357 (2016)
   PUBMED   27516145
  REMARK    GeneRIF: Results show that NDUFS1 protein and mRNA levels are
            down-regulated in lung neoplasm and correlate with poor overall
            survival.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3473)
  AUTHORS   Michalak S, Rybacka-Mossakowska J, Gazdulska J, Golda-Gocka I and
            Ramlau R.
  TITLE     The Effect on Cognition of Mitochondrial Respiratory System
            Proteins in Peripheral Blood Mononuclear Cells in the Course of
            Lung Cancer
  JOURNAL   Adv. Exp. Med. Biol. 911, 45-52 (2016)
   PUBMED   26987334
  REMARK    GeneRIF: High NDUFS1 expression is associated with cognitive
            impairment in lung cancer.
REFERENCE   3  (bases 1 to 3473)
  AUTHORS   Lemire BD.
  TITLE     Glutathione metabolism links FOXRED1 to NADH:ubiquinone
            oxidoreductase (complex I) deficiency: A hypothesis
  JOURNAL   Mitochondrion 24, 105-112 (2015)
   PUBMED   26235939
  REMARK    GeneRIF: Loss of FOXRED1, coupled with protein, choline and/or
            folate-deficient diets results in the depletion of glutathione, the
            dysregulation of nitric oxide metabolism and the
            peroxynitrite-mediated inactivation of complex I.
REFERENCE   4  (bases 1 to 3473)
  AUTHORS   Li X, Zhang W, Tang J, Tan L, Luo XJ, Chen X and Yao YG.
  TITLE     Do nuclear-encoded core subunits of mitochondrial complex I confer
            genetic susceptibility to schizophrenia in Han Chinese populations?
  JOURNAL   Sci Rep 5, 11076 (2015)
   PUBMED   26053550
  REMARK    GeneRIF: Results found nominal significant associations of 2 SNPs
            in the NDUFS1 gene and 4 SNPs in the NDUFS2 gene with early onset
            schizophrenia (EOS), but none of these associations survived the
            Bonferroni correction.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3473)
  AUTHORS   Bjorkman K, Sofou K, Darin N, Holme E, Kollberg G, Asin-Cayuela J,
            Holmberg Dahle KM, Oldfors A, Moslemi AR and Tulinius M.
  TITLE     Broad phenotypic variability in patients with complex I deficiency
            due to mutations in NDUFS1 and NDUFV1
  JOURNAL   Mitochondrion 21, 33-40 (2015)
   PUBMED   25615419
  REMARK    GeneRIF: The presented clinical courses of NDUFV1 and NDUFS1
            mutation-based complex I deficiencies are characterized by
            leukoencephalopathy or early death and expand the already
            heterogeneous phenotypic spectrum.
REFERENCE   6  (bases 1 to 3473)
  AUTHORS   Loeffen JL, Triepels RH, van den Heuvel LP, Schuelke M, Buskens CA,
            Smeets RJ, Trijbels JM and Smeitink JA.
  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   7  (bases 1 to 3473)
  AUTHORS   Rahman,S. and Thorburn,D.
  TITLE     Nuclear Gene-Encoded Leigh Syndrome Overview
  JOURNAL   (in) Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens
            K and Amemiya A (Eds.);
            GENEREVIEWS((R));
            (1993)
   PUBMED   26425749
REFERENCE   8  (bases 1 to 3473)
  AUTHORS   Duncan AM, Chow W and Robinson BH.
  TITLE     Localization of the human 75-kDal Fe-S protein of NADH-coenzyme Q
            reductase gene (NDUFS1) to 2q33----q34
  JOURNAL   Cytogenet. Cell Genet. 60 (3-4), 212-213 (1992)
   PUBMED   1505218
REFERENCE   9  (bases 1 to 3473)
  AUTHORS   Chow W, Ragan I and Robinson BH.
  TITLE     Determination of the cDNA sequence for the human mitochondrial
            75-kDa Fe-S protein of NADH-coenzyme Q reductase
  JOURNAL   Eur. J. Biochem. 201 (3), 547-550 (1991)
   PUBMED   1935949
REFERENCE   10 (bases 1 to 3473)
  AUTHORS   Sumegi,B. and Srere,P.A.
  TITLE     Complex I binds several mitochondrial NAD-coupled dehydrogenases
  JOURNAL   J. Biol. Chem. 259 (24), 15040-15045 (1984)
   PUBMED   6439716
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC413278.1, BC018900.1,
            AW074155.1, CA419316.1 and AA150435.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            [WARNING] On May 17, 2019 this sequence was replaced by
            NM_005006.7.
            
            On Jan 5, 2011 this sequence version replaced NM_005006.5.
            
            Summary: The protein encoded by this gene belongs to the complex I
            75 kDa subunit family. 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. This protein is the largest subunit of complex I
            and it is a component of the iron-sulfur (IP) fragment of the
            enzyme. It may form part of the active site crevice where NADH is
            oxidized. Mutations in this gene are associated with complex I
            deficiency. Several transcript variants encoding different isoforms
            have been found for this gene. [provided by RefSeq, Jan 2011].
            
            Transcript Variant: This variant (1) represents the longest and
            predominant transcript. Variant 1 encodes 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 :: SRR1803613.36283.1,
                                           SRR1803616.137428.1 [ECO:0000332]
            RNAseq introns              :: mixed/partial sample support
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-130               DC413278.1         1-130
            131-2483            BC018900.1         7-2359
            2484-2823           AW074155.1         21-360              c
            2824-3448           CA419316.1         12-636              c
            3449-3473           AA150435.1         1-25                c
FEATURES             Location/Qualifiers
     source          1..3473
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q33.3"
     gene            1..3473
                     /gene="NDUFS1"
                     /gene_synonym="CI-75k; CI-75Kd; MC1DN5; PRO1304"
                     /note="NADH:ubiquinone oxidoreductase core subunit S1"
                     /db_xref="GeneID:4719"
                     /db_xref="HGNC:HGNC:7707"
                     /db_xref="MIM:157655"
     exon            1..179
                     /gene="NDUFS1"
                     /gene_synonym="CI-75k; CI-75Kd; MC1DN5; PRO1304"
                     /inference="alignment:Splign:2.1.0"
     misc_feature    103..105
                     /gene="NDUFS1"
                     /gene_synonym="CI-75k; CI-75Kd; MC1DN5; PRO1304"
                     /note="upstream in-frame stop codon"
     exon            180..244
                     /gene="NDUFS1"
                     /gene_synonym="CI-75k; CI-75Kd; MC1DN5; PRO1304"
                     /inference="alignment:Splign:2.1.0"
     CDS             184..2367
                     /gene="NDUFS1"
                     /gene_synonym="CI-75k; CI-75Kd; MC1DN5; PRO1304"
                     /EC_number="7.1.1.2"
                     /EC_number="1.6.99.3"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; complex I 75kDa subunit; complex I,
                     mitochondrial respiratory chain, 75-kD subunit; NADH
                     dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa
                     (NADH-coenzyme Q reductase); mitochondrial NADH-ubiquinone
                     oxidoreductase 75 kDa subunit"
                     /codon_start=1
                     /product="NADH-ubiquinone oxidoreductase 75 kDa subunit,
                     mitochondrial isoform 1 precursor"
                     /protein_id="NP_004997.4"
                     /db_xref="CCDS:CCDS2366.1"
                     /db_xref="GeneID:4719"
                     /db_xref="HGNC:HGNC:7707"
                     /db_xref="MIM:157655"
                     /translation="MLRIPVRKALVGLSKSPKGCVRTTATAASNLIEVFVDGQSVMVE
                     PGTTVLQACEKVGMQIPRFCYHERLSVAGNCRMCLVEIEKAPKVVAACAMPVMKGWNI
                     LTNSEKSKKAREGVMEFLLANHPLDCPICDQGGECDLQDQSMMFGNDRSRFLEGKRAV
                     EDKNIGPLVKTIMTRCIQCTRCIRFASEIAGVDDLGTTGRGNDMQVGTYIEKMFMSEL
                     SGNIIDICPVGALTSKPYAFTARPWETRKTESIDVMDAVGSNIVVSTRTGEVMRILPR
                     MHEDINEEWISDKTRFAYDGLKRQRLTEPMVRNEKGLLTYTSWEDALSRVAGMLQSFQ
                     GKDVAAIAGGLVDAEALVALKDLLNRVDSDTLCTEEVFPTAGAGTDLRSNYLLNTTIA
                     GVEEADVVLLVGTNPRFEAPLFNARIRKSWLHNDLKVALIGSPVDLTYTYDHLGDSPK
                     ILQDIASGSHPFSQVLKEAKKPMVVLGSSALQRNDGAAILAAVSSIAQKIRMTSGVTG
                     DWKVMNILHRIASQVAALDLGYKPGVEAIRKNPPKVLFLLGADGGCITRQDLPKDCFI
                     IYQGHHGDVGAPIADVILPGAAYTEKSATYVNTEGRAQQTKVAVTPPGLAREDWKIIR
                     ALSEIAGMTLPYDTLDQVRNRLEEVSPNLVRYDDIEGANYFQQANELSKLVNQQLLAD
                     PLVPPQLTIKDFYMTDSISRASQTMAKCVKAVTEGAQAVEEPSIC"
     misc_feature    433..435
                     /gene="NDUFS1"
                     /gene_synonym="CI-75k; CI-75Kd; MC1DN5; PRO1304"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="N6-acetyllysine. {ECO:0000250|UniProtKB:Q91VD9};
                     propagated from UniProtKB/Swiss-Prot (P28331.3);
                     acetylation site"
     misc_feature    1582..1584
                     /gene="NDUFS1"
                     /gene_synonym="CI-75k; CI-75Kd; MC1DN5; PRO1304"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="N6-acetyllysine. {ECO:0000250|UniProtKB:Q91VD9};
                     propagated from UniProtKB/Swiss-Prot (P28331.3);
                     acetylation site"
     misc_feature    1678..1680
                     /gene="NDUFS1"
                     /gene_synonym="CI-75k; CI-75Kd; MC1DN5; PRO1304"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="N6-acetyllysine. {ECO:0000250|UniProtKB:Q91VD9};
                     propagated from UniProtKB/Swiss-Prot (P28331.3);
                     acetylation site"
     misc_feature    2308..2310
                     /gene="NDUFS1"
                     /gene_synonym="CI-75k; CI-75Kd; MC1DN5; PRO1304"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="N6-acetyllysine. {ECO:0000250|UniProtKB:Q91VD9};
                     propagated from UniProtKB/Swiss-Prot (P28331.3);
                     acetylation site"
     exon            245..336
                     /gene="NDUFS1"
                     /gene_synonym="CI-75k; CI-75Kd; MC1DN5; PRO1304"
                     /inference="alignment:Splign:2.1.0"
     exon            337..444
                     /gene="NDUFS1"
                     /gene_synonym="CI-75k; CI-75Kd; MC1DN5; PRO1304"
                     /inference="alignment:Splign:2.1.0"
     exon            445..521
                     /gene="NDUFS1"
                     /gene_synonym="CI-75k; CI-75Kd; MC1DN5; PRO1304"
                     /inference="alignment:Splign:2.1.0"
     exon            522..603
                     /gene="NDUFS1"
                     /gene_synonym="CI-75k; CI-75Kd; MC1DN5; PRO1304"
                     /inference="alignment:Splign:2.1.0"
     exon            604..734
                     /gene="NDUFS1"
                     /gene_synonym="CI-75k; CI-75Kd; MC1DN5; PRO1304"
                     /inference="alignment:Splign:2.1.0"
     exon            735..920
                     /gene="NDUFS1"
                     /gene_synonym="CI-75k; CI-75Kd; MC1DN5; PRO1304"
                     /inference="alignment:Splign:2.1.0"
     exon            921..1055
                     /gene="NDUFS1"
                     /gene_synonym="CI-75k; CI-75Kd; MC1DN5; PRO1304"
                     /inference="alignment:Splign:2.1.0"
     exon            1056..1170
                     /gene="NDUFS1"
                     /gene_synonym="CI-75k; CI-75Kd; MC1DN5; PRO1304"
                     /inference="alignment:Splign:2.1.0"
     exon            1171..1316
                     /gene="NDUFS1"
                     /gene_synonym="CI-75k; CI-75Kd; MC1DN5; PRO1304"
                     /inference="alignment:Splign:2.1.0"
     exon            1317..1445
                     /gene="NDUFS1"
                     /gene_synonym="CI-75k; CI-75Kd; MC1DN5; PRO1304"
                     /inference="alignment:Splign:2.1.0"
     exon            1446..1575
                     /gene="NDUFS1"
                     /gene_synonym="CI-75k; CI-75Kd; MC1DN5; PRO1304"
                     /inference="alignment:Splign:2.1.0"
     exon            1576..1736
                     /gene="NDUFS1"
                     /gene_synonym="CI-75k; CI-75Kd; MC1DN5; PRO1304"
                     /inference="alignment:Splign:2.1.0"
     exon            1737..1891
                     /gene="NDUFS1"
                     /gene_synonym="CI-75k; CI-75Kd; MC1DN5; PRO1304"
                     /inference="alignment:Splign:2.1.0"
     exon            1892..2067
                     /gene="NDUFS1"
                     /gene_synonym="CI-75k; CI-75Kd; MC1DN5; PRO1304"
                     /inference="alignment:Splign:2.1.0"
     exon            2068..2202
                     /gene="NDUFS1"
                     /gene_synonym="CI-75k; CI-75Kd; MC1DN5; PRO1304"
                     /inference="alignment:Splign:2.1.0"
     exon            2203..2275
                     /gene="NDUFS1"
                     /gene_synonym="CI-75k; CI-75Kd; MC1DN5; PRO1304"
                     /inference="alignment:Splign:2.1.0"
     exon            2276..3473
                     /gene="NDUFS1"
                     /gene_synonym="CI-75k; CI-75Kd; MC1DN5; PRO1304"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      2646
                     /gene="NDUFS1"
                     /gene_synonym="CI-75k; CI-75Kd; MC1DN5; PRO1304"
     regulatory      2708..2713
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NDUFS1"
                     /gene_synonym="CI-75k; CI-75Kd; MC1DN5; PRO1304"
     polyA_site      2736
                     /gene="NDUFS1"
                     /gene_synonym="CI-75k; CI-75Kd; MC1DN5; PRO1304"
     regulatory      3447..3452
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NDUFS1"
                     /gene_synonym="CI-75k; CI-75Kd; MC1DN5; PRO1304"
     polyA_site      3473
                     /gene="NDUFS1"
                     /gene_synonym="CI-75k; CI-75Kd; MC1DN5; PRO1304"
ORIGIN      
        1 ggaaattgcc gacaaacttg tcgaatgcaa ggattctagt ccctccgggc tttccgttct
       61 ccaggcccgg ctgacagagt tagccgaggc cgccatattg aataagcgac ccggcctcct
      121 agggggtcgt cgtggtccag acagtttagc agaacagcct ccgcggctcc ggggagaagc
      181 aatatgttaa ggatacctgt aagaaaggcc ttagtaggcc tttctaagtc tcctaaagga
      241 tgtgttcgaa caactgccac agcagcaagc aacttgattg aagtatttgt tgatggtcag
      301 tctgtcatgg tggaaccggg aacgaccgtc ctccaagctt gtgagaaggt tggcatgcag
      361 atccctcgat tctgttatca tgaaaggttg tctgttgctg gaaactgcag gatgtgcctt
      421 gttgaaattg agaaagcccc taaggttgta gctgcttgtg ccatgccagt aatgaagggt
      481 tggaatatcc taacaaactc agaaaaatcc aaaaaagcca gggaaggtgt gatggagttc
      541 ttattagcaa atcacccatt ggactgtcct atttgtgacc agggaggtga atgtgatctg
      601 caggaccagt ccatgatgtt tggaaatgat aggagccgat ttttagaggg gaagcgtgct
      661 gtggaagaca agaacattgg gccattggta aagaccatca tgacaagatg tatacagtgt
      721 actcgctgca tcaggtttgc aagtgagatt gcaggagtag atgatttggg aacaacaggc
      781 agaggaaatg atatgcaagt tggcacatac attgaaaaga tgttcatgtc tgaactgtct
      841 gggaatatca ttgatatctg ccctgtaggt gccctaacct ctaagcccta tgcctttact
      901 gcccggcctt gggaaacaag aaagacagaa tccattgatg taatggatgc ggttggaagt
      961 aatattgtgg ttagcacaag aactggagaa gtgatgagga ttttgccacg tatgcatgag
     1021 gacatcaatg aagagtggat ctctgataaa accagatttg cctatgatgg gctaaaacgt
     1081 caaagactta ccgagccaat ggtcagaaat gaaaaagggc ttttaaccta tacttcttgg
     1141 gaggatgcgc tctctcgcgt agctggaatg ttgcagagtt ttcaaggcaa agatgtggca
     1201 gcaattgcag gtggcttggt ggatgctgaa gccctggtag ctctcaaaga tttgcttaat
     1261 agagtggact ctgacacctt atgcactgaa gaggtcttcc ccactgcagg agctggcaca
     1321 gatttgcgtt ccaattatct tcttaatact acaattgctg gtgtggaaga ggcagatgtt
     1381 gttcttctgg ttggtacaaa cccacgtttt gaggcaccac tgtttaatgc tagaattcga
     1441 aagagctggc tgcataatga cttaaaagtg gcccttatag gcagtccagt ggacctcact
     1501 tacacatatg accacctggg agactccccc aaaattcttc aagacattgc ttcgggaagc
     1561 catccattta gccaggtcct aaaggaagct aaaaaaccaa tggtggtttt aggcagttct
     1621 gcactccaaa gaaatgatgg agcagcaatt cttgcagctg tttctagcat tgcacaaaag
     1681 attcggatga ctagtggtgt tactggtgat tggaaagtta tgaatatcct tcataggatt
     1741 gcaagtcaag tagctgcttt ggaccttggc tataagcctg gggtggaagc aattcggaag
     1801 aaccctccca aggtgctgtt tctcctggga gcagatggag gttgtatcac acgacaggat
     1861 ttgccaaagg attgtttcat tatttatcaa ggacatcatg gtgatgttgg ggctcccata
     1921 gctgatgtta ttctcccagg agctgcttac acagagaagt ctgctacata tgtcaacact
     1981 gagggtagag ctcagcagac taaggtagca gtgacacctc ctggcttggc aagagaagac
     2041 tggaaaatta taagagcact ctctgagatt gctggaatga ctcttccata tgatactctg
     2101 gatcaagtaa ggaacagatt ggaagaagtc tctcctaatc ttgttcgata tgatgatatt
     2161 gaaggggcta attacttcca gcaagcaaat gagctctcaa agctagtgaa ccagcagctt
     2221 cttgctgacc cacttgttcc acctcagcta actataaaag acttctacat gacagattca
     2281 attagcagag cctcacagac aatggccaaa tgtgtcaaag ctgtcacaga gggtgcccag
     2341 gcagtagagg aaccatccat atgctgaagc ttctactagg atcccagttt tgccgcagat
     2401 aattaatgga caactgtagt gcagtgatcc tttacaggtt tatttctttg taaaaaaaaa
     2461 taataataat ttgaatcatg taatatttaa ggttatacta tgcctatttg aaaatgatat
     2521 tagttatcaa ctttgcagtt tgaaaaacat gtattgtgtg taaaggttaa ataacaaaac
     2581 tatgcagatg ctcttaaaag cattgataac ctttgtgacg aacataaaga gatccttaaa
     2641 ttatgagttg ttggcttatc ttcataaata atttgtctgt aaaatggatg aaatgaaaag
     2701 aggttcaatt aaaacctact tttttctagt gctaaagaaa agatttaagc accttgtcaa
     2761 gctgggtaaa taggaaaaat acataatcat gctcagatat gtatctagga taattataat
     2821 taataataat catagtaaca atggctaatg ataatttagc tttattatat gtgctaagca
     2881 ctctggtttt acatgcatta tcttcttttg ttcttgctac aaccctgtga gatagtagta
     2941 ttatctcatt ttactgatga agactgaagc ctaggtatat taaatagctt gcccaaggcc
     3001 acacagcaaa agtcaccaac tcaaacctac ttcttattta ctccaaagcc tgttgttctt
     3061 aactgcaaca tattatttcg tctcattaat gttgattcta taggttgtta cttctaaaaa
     3121 ttagtattga gtttaatggt gaacacattt ttctattttc tcttgaatct gcttctataa
     3181 tgtcatggtg atttatgtgg cttttttttt tttataagtt atacatgtat gcatgtatac
     3241 ttatgagacc tcccttggaa tgagggaggt ctcaagagat ataatttaga ttctcattga
     3301 tgttctgtat tcattatcct aacaccatct gtagtgttaa atcaactaaa ttatttcagc
     3361 aataggagac aaaacaacca gctttcataa tttttaattg tcaaaaccaa aaggaatcag
     3421 aataaggatc actgagaatt taaaaaaata aaaaaggaag taaaaatttt aca
//
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