LOCUS       NM_144736               2184 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens NADH:ubiquinone oxidoreductase complex assembly factor
            7 (NDUFAF7), transcript variant 1, mRNA; nuclear gene for
            mitochondrial product.
ACCESSION   NM_144736
VERSION     NM_144736.5
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 2184)
  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   2  (bases 1 to 2184)
  AUTHORS   Tomkins,J.E., Dihanich,S., Beilina,A., Ferrari,R., Ilacqua,N.,
            Cookson,M.R., Lewis,P.A. and Manzoni,C.
  TITLE     Comparative Protein Interaction Network Analysis Identifies Shared
            and Distinct Functions for the Human ROCO Proteins
  JOURNAL   Proteomics 18 (10), e1700444 (2018)
   PUBMED   29513927
REFERENCE   3  (bases 1 to 2184)
  AUTHORS   Wang,B., Liu,Y., Chen,S., Wu,Y., Lin,S., Duan,Y., Zheng,K.,
            Zhang,L., Gu,X., Hong,W., Shao,H., Zeng,X., Sun,B. and Duan,S.
  TITLE     A Novel Potentially Causative Variant of NDUFAF7 Revealed by
            Mutation Screening in a Chinese Family With Pathologic Myopia
  JOURNAL   Invest Ophthalmol Vis Sci 58 (10), 4182-4192 (2017)
   PUBMED   28837730
  REMARK    GeneRIF: We propose that the heterozygous mutation (c.798C>G) in
            NDUFAF7 may contribute to the pathogenesis of pathologic myopia,
            possibly by interfering with the phototransduction cascade.
            Mitochondrial dysfunction during eye development may lead to
            pathologic myopia.
REFERENCE   4  (bases 1 to 2184)
  AUTHORS   Zurita Rendon,O., Silva Neiva,L., Sasarman,F. and Shoubridge,E.A.
  TITLE     The arginine methyltransferase NDUFAF7 is essential for complex I
            assembly and early vertebrate embryogenesis
  JOURNAL   Hum Mol Genet 23 (19), 5159-5170 (2014)
   PUBMED   24838397
  REMARK    GeneRIF: NDUFAF7 functions to methylate NDUFS2 after it assembles
            into a complex I, stabilizing an early intermediate in the assembly
            pathway, and that this function is essential for normal vertebrate
            development.
REFERENCE   5  (bases 1 to 2184)
  AUTHORS   Beilina,A., Rudenko,I.N., Kaganovich,A., Civiero,L., Chau,H.,
            Kalia,S.K., Kalia,L.V., Lobbestael,E., Chia,R., Ndukwe,K., Ding,J.,
            Nalls,M.A., Olszewski,M., Hauser,D.N., Kumaran,R., Lozano,A.M.,
            Baekelandt,V., Greene,L.E., Taymans,J.M., Greggio,E. and
            Cookson,M.R.
  CONSRTM   International Parkinson's Disease Genomics Consortium; North
            American Brain Expression Consortium
  TITLE     Unbiased screen for interactors of leucine-rich repeat kinase 2
            supports a common pathway for sporadic and familial Parkinson
            disease
  JOURNAL   Proc Natl Acad Sci U S A 111 (7), 2626-2631 (2014)
   PUBMED   24510904
REFERENCE   6  (bases 1 to 2184)
  AUTHORS   Speedy,H.E., Di Bernardo,M.C., Sava,G.P., Dyer,M.J., Holroyd,A.,
            Wang,Y., Sunter,N.J., Mansouri,L., Juliusson,G., Smedby,K.E.,
            Roos,G., Jayne,S., Majid,A., Dearden,C., Hall,A.G.,
            Mainou-Fowler,T., Jackson,G.H., Summerfield,G., Harris,R.J.,
            Pettitt,A.R., Allsup,D.J., Bailey,J.R., Pratt,G., Pepper,C.,
            Fegan,C., Rosenquist,R., Catovsky,D., Allan,J.M. and Houlston,R.S.
  TITLE     A genome-wide association study identifies multiple susceptibility
            loci for chronic lymphocytic leukemia
  JOURNAL   Nat Genet 46 (1), 56-60 (2014)
   PUBMED   24292274
REFERENCE   7  (bases 1 to 2184)
  AUTHORS   Rhein,V.F., Carroll,J., Ding,S., Fearnley,I.M. and Walker,J.E.
  TITLE     NDUFAF7 methylates arginine 85 in the NDUFS2 subunit of human
            complex I
  JOURNAL   J Biol Chem 288 (46), 33016-33026 (2013)
   PUBMED   24089531
  REMARK    GeneRIF: NDUFAF7 methylates arginine 85 in the NDUFS2 subunit of
            human complex I.
REFERENCE   8  (bases 1 to 2184)
  AUTHORS   Kensche,P.R., Duarte,I. and Huynen,M.A.
  TITLE     A three-dimensional topology of complex I inferred from
            evolutionary correlations
  JOURNAL   BMC Struct Biol 12, 19 (2012)
   PUBMED   22857522
  REMARK    Publication Status: Online-Only
REFERENCE   9  (bases 1 to 2184)
  AUTHORS   Carilla-Latorre,S., Gallardo,M.E., Annesley,S.J., Calvo-Garrido,J.,
            Grana,O., Accari,S.L., Smith,P.K., Valencia,A., Garesse,R.,
            Fisher,P.R. and Escalante,R.
  TITLE     MidA is a putative methyltransferase that is required for
            mitochondrial complex I function
  JOURNAL   J Cell Sci 123 (Pt 10), 1674-1683 (2010)
   PUBMED   20406883
  REMARK    GeneRIF: a role for MidA in complex I assembly or stability
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BM172474.1, BC004548.2 and
            BX538031.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_144736.4.
            
            Summary: This gene encodes an assembly factor protein which helps
            in the assembly and stabilization of Complex I, a large
            multi-subunit enzyme in the mitochondrial respiratory chain.
            Complex I is involved in several physiological activities in the
            cell, including metabolite transport and ATP synthesis. The encoded
            protein is a methyltransferase which methylates Arg85 of a subunit
            of Complex I in the early stages of its assembly. A pseudogene
            related to this gene is located on chromosome 8. Alternative
            splicing results in multiple transcript variants. [provided by
            RefSeq, Sep 2016].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.254428.1,
                                           SRR3476690.336220.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000002125.9/
                                                  ENSP00000002125.4
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-8                 BM172474.1         33-40
            9-1444              BC004548.2         1-1436
            1445-2184           BX538031.1         1131-1870
FEATURES             Location/Qualifiers
     source          1..2184
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p22.2"
     gene            1..2184
                     /gene="NDUFAF7"
                     /gene_synonym="C2orf56; MidA; PRO1853"
                     /note="NADH:ubiquinone oxidoreductase complex assembly
                     factor 7"
                     /db_xref="GeneID:55471"
                     /db_xref="HGNC:HGNC:28816"
                     /db_xref="MIM:615898"
     exon            1..103
                     /gene="NDUFAF7"
                     /gene_synonym="C2orf56; MidA; PRO1853"
                     /inference="alignment:Splign:2.1.0"
     CDS             49..1374
                     /gene="NDUFAF7"
                     /gene_synonym="C2orf56; MidA; PRO1853"
                     /EC_number="2.1.1.320"
                     /note="isoform 1 is encoded by transcript variant 1;
                     mitochondrial dysfunction protein A homolog; protein midA
                     homolog, mitochondrial; NADH dehydrogenase [ubiquinone]
                     complex I, assembly factor 7; NADH dehydrogenase
                     (ubiquinone) complex I, assembly factor 7; protein
                     arginine methyltransferase NDUFAF7, mitochondrial"
                     /codon_start=1
                     /product="protein arginine methyltransferase NDUFAF7,
                     mitochondrial isoform 1"
                     /protein_id="NP_653337.1"
                     /db_xref="CCDS:CCDS1788.1"
                     /db_xref="GeneID:55471"
                     /db_xref="HGNC:HGNC:28816"
                     /db_xref="MIM:615898"
                     /translation="MSVLLRSGLGPLCAVARAAIPFIWRGKYFSSGNEPAENPVTPML
                     RHLMYKIKSTGPITVAEYMKEVLTNPAKGYYVYRDMLGEKGDFITSPEISQIFGELLG
                     IWFISEWMATGKSTAFQLVELGPGRGTLVGDILRVFTQLGSVLKNCDISVHLVEVSQK
                     LSEIQALTLTKEKVPLERNAGSPVYMKGVTKSGIPISWYRDLHDVPKGYSFYLAHEFF
                     DVLPVHKFQKTPQGWREVFVDIDPQVSDKLRFVLAPSATPAEAFIQHDETRDHVEVCP
                     DAGVIIEELSQRIALTGGAALVADYGHDGTKTDTFRGFCDHKLHDVLIAPGTADLTAD
                     VDFSYLRRMAQGKVASLGPIKQHTFLKNMGIDVRLKVLLDKSNEPSVRQQLLQGYDML
                     MNPKKMGERFNFFALLPHQRLQGGRYQRNARQSKPFASVVAGFSELAWQ"
     exon            104..264
                     /gene="NDUFAF7"
                     /gene_synonym="C2orf56; MidA; PRO1853"
                     /inference="alignment:Splign:2.1.0"
     exon            265..345
                     /gene="NDUFAF7"
                     /gene_synonym="C2orf56; MidA; PRO1853"
                     /inference="alignment:Splign:2.1.0"
     exon            346..456
                     /gene="NDUFAF7"
                     /gene_synonym="C2orf56; MidA; PRO1853"
                     /inference="alignment:Splign:2.1.0"
     exon            457..670
                     /gene="NDUFAF7"
                     /gene_synonym="C2orf56; MidA; PRO1853"
                     /inference="alignment:Splign:2.1.0"
     exon            671..729
                     /gene="NDUFAF7"
                     /gene_synonym="C2orf56; MidA; PRO1853"
                     /inference="alignment:Splign:2.1.0"
     exon            730..840
                     /gene="NDUFAF7"
                     /gene_synonym="C2orf56; MidA; PRO1853"
                     /inference="alignment:Splign:2.1.0"
     exon            841..984
                     /gene="NDUFAF7"
                     /gene_synonym="C2orf56; MidA; PRO1853"
                     /inference="alignment:Splign:2.1.0"
     exon            985..1158
                     /gene="NDUFAF7"
                     /gene_synonym="C2orf56; MidA; PRO1853"
                     /inference="alignment:Splign:2.1.0"
     exon            1159..2184
                     /gene="NDUFAF7"
                     /gene_synonym="C2orf56; MidA; PRO1853"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2155..2160
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NDUFAF7"
                     /gene_synonym="C2orf56; MidA; PRO1853"
                     /note="hexamer: AATAAA"
     polyA_site      2184
                     /gene="NDUFAF7"
                     /gene_synonym="C2orf56; MidA; PRO1853"
                     /note="major polyA site"
ORIGIN      
        1 gtctaagccc cagctcctgg cggagcgagc tagcctgcga atttcagcat gagtgtactg
       61 ctgaggtcag gtttggggcc gttgtgtgcc gtggcgcgcg cagccattcc ttttatttgg
      121 agagggaaat acttcagctc cgggaatgag cctgcagaaa acccggtgac gccgatgctg
      181 cggcatctta tgtacaaaat aaagtctact ggtcccatca ctgtggccga gtacatgaag
      241 gaggtgttga ctaatccagc caagggttat tatgtgtacc gtgacatgct aggcgaaaaa
      301 ggagatttca ttacttcacc tgaaataagt caaatctttg gggagctact aggtatatgg
      361 ttcattagtg aatggatggc cactggaaaa agcacagctt tccagctggt ggaactgggc
      421 ccaggtaggg gaaccctcgt gggagatatt ttgagggtgt tcactcaact tggatctgtg
      481 ctgaaaaatt gtgacatttc agtacatctg gtagaggtaa gccaaaaatt aagtgagatt
      541 caagcattga cactgactaa agagaaggtc ccgttagagc gaaatgctgg atccccagtg
      601 tatatgaaag gtgtcactaa gtctgggatt ccaatttcct ggtaccgaga tctgcacgat
      661 gttccaaaag ggtacagctt ttatcttgca catgaatttt ttgatgttct tcctgtgcat
      721 aaatttcaga aaacaccaca gggatggcga gaagtatttg ttgacattga tccacaggtt
      781 tctgataaac tgaggtttgt tttggcacct tctgccaccc cagcagaagc cttcatacaa
      841 catgacgaaa caagggatca tgttgaagtg tgtcctgatg ctggtgttat catcgaggaa
      901 ctttctcaac gcattgcatt aactggaggt gctgcactgg ttgctgatta tggtcatgat
      961 ggaacaaaga cagatacctt cagagggttt tgcgaccaca agcttcatga tgtcttaatt
     1021 gccccaggaa cagcagatct aacagctgat gtggacttca gttatttgcg aagaatggca
     1081 cagggaaaag tagcctctct gggcccaata aaacaacaca catttttaaa aaatatgggt
     1141 attgatgtcc ggctgaaggt tcttttagat aaatcaaatg agccatcagt gaggcagcag
     1201 ttacttcaag gatatgatat gttaatgaat ccaaagaaga tgggagagag atttaacttt
     1261 tttgccttgc tacctcatca gagacttcaa ggtggaagat atcagaggaa tgcacgtcag
     1321 tcaaaaccct ttgcatccgt tgtagctggg tttagtgaac ttgcttggca gtgatatttc
     1381 agcttggaca ttttaccctt cagtcggccc aagaaatcaa aataaaggaa acacatttca
     1441 tatactgcag gtaacaaaag tcaaagtatt ttatcttttc acagcaagaa cagtccatgt
     1501 tgtatataat acaaccaaca ttatagaact tttagggttg tgactggctt tggtgcaaat
     1561 gtgtgctcaa gctaataagt tattgtgaaa ctgagtttcc tttaacttac aaagctagtt
     1621 gccatatttc tattttattt taaaaagtaa acatgcggct gggcgtggtg gctcatgcct
     1681 gtaatcccag cactttggga ggctgaggtg ggcatatcac ctgaggtcag cagttaaaga
     1741 ccagcctgac caaaatggag aaaccccatc tctactaaaa atacaaaact agccgggtat
     1801 ggtggtacat gcctgtaatc ccagctactc aggaggctga gacaggagaa tcacttgaac
     1861 ctgggaggtg gaggttgcgg tgagctgaga tcgtgccact gcactccagc ctgggcaaca
     1921 agagcaaaaa tccctctcaa aaaaaaaagt aaacatgggc actgattgtt ttaataaaaa
     1981 tgggaaacag actaaatggc tattcacagg aaactgataa gatatatgtt atttttttaa
     2041 atgagctagg gcaatatgtt ttgacagaaa actctctaag atttagtaag tgaaaaaaag
     2101 taggatgcaa gagtttttat agttgattcc atttttgttg aaggagaaaa actaaataaa
     2161 tacgagtaat ttcatagaaa cgaa
//
