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
//