LOCUS       NM_018346               2467 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens radical S-adenosyl methionine domain containing 1
            (RSAD1), transcript variant 1, mRNA; nuclear gene for mitochondrial
            product.
ACCESSION   NM_018346
VERSION     NM_018346.3
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 2467)
  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 2467)
  AUTHORS   Haskamp,V., Karrie,S., Mingers,T., Barthels,S., Alberge,F.,
            Magalon,A., Muller,K., Bill,E., Lubitz,W., Kleeberg,K.,
            Schweyen,P., Broring,M., Jahn,M. and Jahn,D.
  TITLE     The radical SAM protein HemW is a heme chaperone
  JOURNAL   J Biol Chem 293 (7), 2558-2572 (2018)
   PUBMED   29282292
REFERENCE   3  (bases 1 to 2467)
  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
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK002026.1 and AK022105.1.
            
            On Nov 22, 2018 this sequence version replaced NM_018346.2.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the supported protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK022105.1, AK002026.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000258955.7/ ENSP00000258955.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1772              AK002026.1         32-1803
            1773-2467           AK022105.1         1773-2467
FEATURES             Location/Qualifiers
     source          1..2467
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.33"
     gene            1..2467
                     /gene="RSAD1"
                     /gene_synonym="HemW"
                     /note="radical S-adenosyl methionine domain containing 1"
                     /db_xref="GeneID:55316"
                     /db_xref="HGNC:HGNC:25634"
                     /db_xref="MIM:620590"
     exon            1..160
                     /gene="RSAD1"
                     /gene_synonym="HemW"
                     /inference="alignment:Splign:2.1.0"
     CDS             26..1354
                     /gene="RSAD1"
                     /gene_synonym="HemW"
                     /note="radical S-adenosyl methionine domain-containing
                     protein 1, mitochondrial; oxygen-independent
                     coproporphyrinogen-III oxidase-like protein RSAD1;
                     putative heme chaperone"
                     /codon_start=1
                     /product="radical S-adenosyl methionine domain-containing
                     protein 1, mitochondrial precursor"
                     /protein_id="NP_060816.1"
                     /db_xref="CCDS:CCDS11569.1"
                     /db_xref="GeneID:55316"
                     /db_xref="HGNC:HGNC:25634"
                     /db_xref="MIM:620590"
                     /translation="MALPGARARGWAAAARAAQRRRRVENAGGSPSPEPAGRRAALYV
                     HWPYCEKRCSYCNFNKYIPRRLEEAAMQKCLVTEAQTLLRLSGVQRVESVFFGGGTPS
                     LASPHTVAAVLEAVAQAAHLPADLEVTLEANPTSAPGSRLAEFGAAGVNRLSIGLQSL
                     DDTELRLLGRTHSACDALRTLAEARRLFPGRVSVDLMLGLPAQQVGPWLGQLQELLHH
                     CDDHLSLYQLSLERGTALFAQVQRGALPAPDPELAAEMYQRGRAVLREAGFHQYEVSN
                     FARNGALSTHNWTYWQCGQYLGVGPGAHGRFMPQGAGGHTREARIQTLEPDNWMKEVM
                     LFGHGTRKRVPLGRLELLEEVLALGLRTDVGITHQHWQQFEPQLTLWDVFGANKEVQE
                     LLERGLLQLDHRGLRCSWEGLAVLDSLLLTLLPQLQEAWQQRTPSPVPGG"
     exon            161..294
                     /gene="RSAD1"
                     /gene_synonym="HemW"
                     /inference="alignment:Splign:2.1.0"
     exon            295..499
                     /gene="RSAD1"
                     /gene_synonym="HemW"
                     /inference="alignment:Splign:2.1.0"
     exon            500..865
                     /gene="RSAD1"
                     /gene_synonym="HemW"
                     /inference="alignment:Splign:2.1.0"
     exon            866..929
                     /gene="RSAD1"
                     /gene_synonym="HemW"
                     /inference="alignment:Splign:2.1.0"
     exon            930..1077
                     /gene="RSAD1"
                     /gene_synonym="HemW"
                     /inference="alignment:Splign:2.1.0"
     exon            1078..1132
                     /gene="RSAD1"
                     /gene_synonym="HemW"
                     /inference="alignment:Splign:2.1.0"
     exon            1133..1236
                     /gene="RSAD1"
                     /gene_synonym="HemW"
                     /inference="alignment:Splign:2.1.0"
     exon            1237..2467
                     /gene="RSAD1"
                     /gene_synonym="HemW"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2447..2452
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RSAD1"
                     /gene_synonym="HemW"
                     /note="hexamer: AATAAA"
     polyA_site      2467
                     /gene="RSAD1"
                     /gene_synonym="HemW"
                     /note="major polyA site"
ORIGIN      
        1 agtgcgccgc gctgcgctgg gcgccatggc gctccccgga gcccgggctc gcggctgggc
       61 ggcagcagcc agagcggccc agaggcgccg ccgcgtggag aacgcaggag ggtccccgag
      121 tcctgagcct gcgggccggc gcgcggcgct ttacgtacac tggccttact gcgagaagcg
      181 ctgcagttac tgcaacttca acaagtacat ccctcgccgc ctggaggagg ctgccatgca
      241 gaagtgtctg gtgaccgaag ctcagacgct gctgcggctc agcggggtgc aacgggtgga
      301 gtctgtgttc tttggtgggg ggacccccag tctagccagt ccccacacgg tggctgctgt
      361 cctggaggct gtggcacagg cagcccacct gcctgcagac ttggaagtca cattggaggc
      421 taatcctact tcagctccgg gctccagact ggcagagttc ggggcagcag gggttaacag
      481 gttgtctata ggcctccagt ccctagatga cactgagctc cggctgttgg gacggacgca
      541 ctcggcctgc gatgctctgc ggacgctggc agaggcccgg cgcctctttc ccgggcgcgt
      601 gtctgtagac ttgatgctgg ggctgccggc acagcaggtg gggccgtggc ttgggcagct
      661 gcaggaactg ctgcaccact gtgatgacca cctctccctc taccagctgt ccctggagcg
      721 gggcaccgca ctcttcgccc aggtgcagcg gggtgccctt ccagcccctg acccggagct
      781 cgcagctgag atgtaccaga ggggccgggc tgtccttcgg gaggctggct tccaccagta
      841 tgaggtctcc aactttgccc ggaatggggc gctcagtacc cacaattgga cttactggca
      901 gtgtggtcag taccttggcg ttgggcctgg ggcccatgga cgatttatgc cccagggggc
      961 tggaggccac acccgggagg ctcggatcca gacactggag cctgacaact ggatgaagga
     1021 ggtgatgctg tttggccatg gcacccggaa gcgtgtcccc ctgggcaggc tggagctgct
     1081 ggaggaagtt ttggccctgg ggctacgcac cgatgtgggg atcactcacc agcactggca
     1141 gcagtttgag ccccagctga ccctgtggga tgtgtttgga gcgaacaagg aggtgcagga
     1201 gctgctggag cggggcctac tgcagctgga tcacaggggt cttcggtgtt cctgggaggg
     1261 tctggctgtg ctggactctc tcttgctgac cctcctgcct cagctccaag aagcctggca
     1321 gcagagaacc ccctcccctg tgccaggagg atgacaaaaa tgttcctgtg ttccagggta
     1381 atgccaggtg ggttttgaga gctgggtcgg tactgcagac atctcttctc cgttgtcggg
     1441 tgccgtctct gctccttgtg gttattgctc agccctggca tccccagggg aatggcagca
     1501 gtgaggtaga tgggaggaca tttctggtca gggaactggc atcccattca gcatctcagg
     1561 actcacaggc caacatgtgt tccatggctg ggaattgcct accacccaca tcagcttctg
     1621 tttacctttt tggcatcaaa taatgaacag tgtttggaaa tctttctaca ggcaattacc
     1681 tccccaagag aagccttcct tattttggag taaggtccta agatagctgg atgaatcagg
     1741 aaaaccatgt cccctctagg tattattaat ataagcagga agggatctac tataggaatg
     1801 aagtatttat aaaccactga aagggataga gaagtgaaca ttggagaaag ccagtagcaa
     1861 ctgtgagaaa tcagcaactt gcaggaggca cagaaaactc ctgctgatgg tctcagcttc
     1921 cagcagcaca aaagcagatg atgtactgga aaatgctcag aagatgctac aaaacctcat
     1981 gcctactgtc tgccactgct ggagaaggaa tcatggtttc tagaagtgcc tctcattagt
     2041 ggactttaaa gcaaatcctg gctggcagga aattctgagg aatatagctc ttaggcttcc
     2101 agcctctacc atgcaggaga gaacacagaa ggactgatgt atgttggtgg atccatgtat
     2161 gtgtccagca cagcggcctg ctggactctg agaactggga aagatcagag caagccttgc
     2221 ctcttatctt cgggaaacca gaatatgttt ggggtggtag gagccacaca gactcttctg
     2281 agccccctca ctcacttcct tccccctgtg cctttccttt gagagtgaag gtgggtggag
     2341 ttgaccagag aaaggggaga gaattcggga aagacccaaa gtgtttgtaa ttcttctttg
     2401 tccttttacc tacagaaatg gtcacatggt tctatttaaa tagcctaata aacacatctg
     2461 gagcctg
//
