LOCUS       NM_001135998             586 bp    mRNA    linear   PRI 05-OCT-2024
DEFINITION  Homo sapiens NADH:ubiquinone oxidoreductase subunit B11 (NDUFB11),
            transcript variant 2, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001135998 NR_024235
VERSION     NM_001135998.3
KEYWORDS    RefSeq; MANE 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 586)
  AUTHORS   Yang,Y., Li,J.H., Yao,B.C., Chen,Q.L., Jiang,N., Wang,L.Q. and
            Guo,Z.G.
  TITLE     NDUFB11 and NDUFS3 play a role in atherosclerosis and chronic
            stress
  JOURNAL   Aging (Albany NY) 15 (16), 8026-8043 (2023)
   PUBMED   37642954
  REMARK    GeneRIF: NDUFB11 and NDUFS3 play a role in atherosclerosis and
            chronic stress.
REFERENCE   2  (bases 1 to 586)
  AUTHORS   Amate-Garcia,G., Ballesta-Martinez,M.J., Serrano-Lorenzo,P.,
            Garrido-Moraga,R., Gonzalez-Quintana,A., Blazquez,A., Rubio,J.C.,
            Garcia-Consuegra,I., Arenas,J., Ugalde,C., Moran,M.,
            Guillen-Navarro,E. and Martin,M.A.
  TITLE     A Novel Mutation Associated with Neonatal Lethal Cardiomyopathy
            Leads to an Alternative Transcript Expression in the X-Linked
            Complex I NDUFB11 Gene
  JOURNAL   Int J Mol Sci 24 (2), 1743 (2023)
   PUBMED   36675256
  REMARK    GeneRIF: A Novel Mutation Associated with Neonatal Lethal
            Cardiomyopathy Leads to an Alternative Transcript Expression in the
            X-Linked Complex I NDUFB11 Gene.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 586)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   4  (bases 1 to 586)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   5  (bases 1 to 586)
  AUTHORS   Clark,H.F., Gurney,A.L., Abaya,E., Baker,K., Baldwin,D., Brush,J.,
            Chen,J., Chow,B., Chui,C., Crowley,C., Currell,B., Deuel,B.,
            Dowd,P., Eaton,D., Foster,J., Grimaldi,C., Gu,Q., Hass,P.E.,
            Heldens,S., Huang,A., Kim,H.S., Klimowski,L., Jin,Y., Johnson,S.,
            Lee,J., Lewis,L., Liao,D., Mark,M., Robbie,E., Sanchez,C.,
            Schoenfeld,J., Seshagiri,S., Simmons,L., Singh,J., Smith,V.,
            Stinson,J., Vagts,A., Vandlen,R., Watanabe,C., Wieand,D., Woods,K.,
            Xie,M.H., Yansura,D., Yi,S., Yu,G., Yuan,J., Zhang,M., Zhang,Z.,
            Goddard,A., Wood,W.I., Godowski,P. and Gray,A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
REFERENCE   6  (bases 1 to 586)
  AUTHORS   Murray,J., Zhang,B., Taylor,S.W., Oglesbee,D., Fahy,E.,
            Marusich,M.F., Ghosh,S.S. and Capaldi,R.A.
  TITLE     The subunit composition of the human NADH dehydrogenase obtained by
            rapid one-step immunopurification
  JOURNAL   J Biol Chem 278 (16), 13619-13622 (2003)
   PUBMED   12611891
REFERENCE   7  (bases 1 to 586)
  AUTHORS   Carroll,J., Shannon,R.J., Fearnley,I.M., Walker,J.E. and Hirst,J.
  TITLE     Definition of the nuclear encoded protein composition of bovine
            heart mitochondrial complex I. Identification of two new subunits
  JOURNAL   J Biol Chem 277 (52), 50311-50317 (2002)
   PUBMED   12381726
REFERENCE   8  (bases 1 to 586)
  AUTHORS   Cui,Y., Yu,L., Gong,R., Zhang,M., Fan,Y., Yue,P. and Zhao,S.
  TITLE     Cloning and tissue expressional characterization of a full-length
            cDNA encoding human neuronal protein P17.3
  JOURNAL   Biochem Genet 37 (5-6), 175-185 (1999)
   PUBMED   10544803
REFERENCE   9  (bases 1 to 586)
  AUTHORS   Morleo,M. and Franco,B.
  TITLE     Microphthalmia with Linear Skin Defects Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301767
REFERENCE   10 (bases 1 to 586)
  AUTHORS   Longoni,M., Pober,B.R. and High,F.A.
  TITLE     Congenital Diaphragmatic Hernia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301533
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY359056.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Feb 25, 2020 this sequence version replaced NM_001135998.2.
            
            Summary: The protein encoded by this gene is a subunit of the
            multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian
            complex I is located at the mitochondrial inner membrane. This
            protein has NADH dehydrogenase activity and oxidoreductase
            activity. It transfers electrons from NADH to ubiquinone. Mutations
            in the human gene are associated with linear skin defects with
            multiple congenital anomalies 3 and mitochondrial complex I
            deficiency. [provided by RefSeq, Dec 2016].
            
            Transcript Variant: This variant (2) uses an alternate in_frame
            splice site in the 3' coding region, compared to variant 1. The
            encoded isoform (2) has a shorter C-terminus compared to 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 :: BP272300.1, CD385455.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000377811.4/
                                                  ENSP00000367042.3
            RefSeq Select criteria             :: based on manual assertion,
                                                  conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-586               AY359056.1         509-1094
FEATURES             Location/Qualifiers
     source          1..586
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.3"
     gene            1..586
                     /gene="NDUFB11"
                     /gene_synonym="CI-ESSS; ESSS; MC1DN30; Np15; NP17.3;
                     P17.3"
                     /note="NADH:ubiquinone oxidoreductase subunit B11"
                     /db_xref="GeneID:54539"
                     /db_xref="HGNC:HGNC:20372"
                     /db_xref="MIM:300403"
     exon            1..230
                     /gene="NDUFB11"
                     /gene_synonym="CI-ESSS; ESSS; MC1DN30; Np15; NP17.3;
                     P17.3"
                     /inference="alignment:Splign:2.1.0"
     CDS             24..485
                     /gene="NDUFB11"
                     /gene_synonym="CI-ESSS; ESSS; MC1DN30; Np15; NP17.3;
                     P17.3"
                     /note="isoform 2 is encoded by transcript variant 2;
                     neuronal protein 17.3; complex I NP17.3 subunit; NADH
                     dehydrogenase [ubiquinone] 1 beta subcomplex subunit 11,
                     mitochondrial; complex I-ESSS; NADH-ubiquinone
                     oxidoreductase ESSS subunit; NADH dehydrogenase
                     (ubiquinone) 1 beta subcomplex, 11, 17.3kDa"
                     /codon_start=1
                     /product="NADH dehydrogenase [ubiquinone] 1 beta
                     subcomplex subunit 11, mitochondrial isoform 2"
                     /protein_id="NP_001129470.1"
                     /db_xref="CCDS:CCDS48100.1"
                     /db_xref="GeneID:54539"
                     /db_xref="HGNC:HGNC:20372"
                     /db_xref="MIM:300403"
                     /translation="MAAGLFGLSARRLLAAAATRGLPAARVRWESSFSRTVVAPSAVA
                     GKRPPEPTTPWQEDPEPEDENLYEKNPDSHGYDKDPVLDVWNMRLVFFFGVSIILVLG
                     STFVAYLPDYRMKEWSRREAERLVKYREANGLPIMESNCFDPSKIQLPEDE"
     exon            231..361
                     /gene="NDUFB11"
                     /gene_synonym="CI-ESSS; ESSS; MC1DN30; Np15; NP17.3;
                     P17.3"
                     /inference="alignment:Splign:2.1.0"
     exon            362..586
                     /gene="NDUFB11"
                     /gene_synonym="CI-ESSS; ESSS; MC1DN30; Np15; NP17.3;
                     P17.3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      565..570
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NDUFB11"
                     /gene_synonym="CI-ESSS; ESSS; MC1DN30; Np15; NP17.3;
                     P17.3"
                     /note="hexamer: ATTAAA"
     polyA_site      586
                     /gene="NDUFB11"
                     /gene_synonym="CI-ESSS; ESSS; MC1DN30; Np15; NP17.3;
                     P17.3"
                     /note="major polyA site"
ORIGIN      
        1 gagaccctgc agcaccatct gtcatggcgg ctgggctgtt tggtttgagc gctcgccgtc
       61 ttttggcggc agcggcgacg cgagggctcc cggccgcccg cgtccgctgg gaatctagct
      121 tctccaggac tgtggtcgcc ccgtccgctg tggcgggaaa gcggccccca gaaccgacca
      181 caccgtggca agaggaccca gaacccgagg acgaaaactt gtatgagaag aacccagact
      241 cccatggtta tgacaaggac cccgttttgg acgtctggaa catgcgactt gtcttcttct
      301 ttggcgtctc catcatcctg gtccttggca gcacctttgt ggcctatctg cctgactaca
      361 ggatgaaaga gtggtcccgc cgcgaagctg agaggcttgt gaaataccga gaggccaatg
      421 gccttcccat catggaatcc aactgcttcg accccagcaa gatccagctg ccagaggatg
      481 agtgaccagt tgctaagtgg ggctcaagaa gcaccgcctt ccccaccccc tgcctgccat
      541 tctgacctct tctcagagca cctaattaaa ggggctgaaa gtctga
//
