LOCUS       NM_001122608            2254 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens holocytochrome c synthase (HCCS), transcript variant
            2, mRNA.
ACCESSION   NM_001122608
VERSION     NM_001122608.3
KEYWORDS    RefSeq.
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 2254)
  AUTHORS   Choi,H., Lee,K., Kim,D., Kim,S. and Lee,J.H.
  TITLE     The implication of holocytochrome c synthase mutation in Korean
            familial hypoplastic amelogenesis imperfecta
  JOURNAL   Clin Oral Investig 26 (6), 4487-4498 (2022)
   PUBMED   35243551
  REMARK    GeneRIF: The implication of holocytochrome c synthase mutation in
            Korean familial hypoplastic amelogenesis imperfecta.
REFERENCE   2  (bases 1 to 2254)
  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   3  (bases 1 to 2254)
  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   4  (bases 1 to 2254)
  AUTHORS   Schwarz,Q.P. and Cox,T.C.
  TITLE     Complementation of a yeast CYC3 deficiency identifies an X-linked
            mammalian activator of apocytochrome c
  JOURNAL   Genomics 79 (1), 51-57 (2002)
   PUBMED   11827457
REFERENCE   5  (bases 1 to 2254)
  AUTHORS   Van den Veyver,I.B., Subramanian,S. and Zoghbi,H.Y.
  TITLE     Genomic structure of a human holocytochrome c-type synthetase gene
            in Xp22.3 and mutation analysis in patients with Rett syndrome
  JOURNAL   Am J Med Genet 78 (2), 179-181 (1998)
   PUBMED   9674913
REFERENCE   6  (bases 1 to 2254)
  AUTHORS   Schaefer,L., Ballabio,A. and Zoghbi,H.Y.
  TITLE     Cloning and characterization of a putative human holocytochrome
            c-type synthetase gene (HCCS) isolated from the critical region for
            microphthalmia with linear skin defects (MLS)
  JOURNAL   Genomics 34 (2), 166-172 (1996)
   PUBMED   8661044
REFERENCE   7  (bases 1 to 2254)
  AUTHORS   Wapenaar,M.C., Bassi,M.T., Schaefer,L., Grillo,A., Ferrero,G.B.,
            Chinault,A.C., Ballabio,A. and Zoghbi,H.Y.
  TITLE     The genes for X-linked ocular albinism (OA1) and microphthalmia
            with linear skin defects (MLS): cloning and characterization of the
            critical regions
  JOURNAL   Hum Mol Genet 2 (7), 947-952 (1993)
   PUBMED   8364577
REFERENCE   8  (bases 1 to 2254)
  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   9  (bases 1 to 2254)
  AUTHORS   Bardakjian,T., Weiss,A. and Schneider,A.
  TITLE     Microphthalmia/Anophthalmia/Coloboma Spectrum - RETIRED CHAPTER,
            FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301552
REFERENCE   10 (bases 1 to 2254)
  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 AK097815.1 and AI027533.1.
            
            On Jun 1, 2019 this sequence version replaced NM_001122608.2.
            
            Summary: The protein encoded by this gene is an enzyme that
            covalently links a heme group to the apoprotein of cytochrome c.
            Defects in this gene are a cause of microphthalmia syndromic type 7
            (MCOPS7). Three transcript variants encoding the same protein have
            been found for this gene. [provided by RefSeq, Jan 2010].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1, 2 and 3 encode the same protein.
            
            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 :: SRR1803614.10361.1,
                                           SRR1803615.149874.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1452              AK097815.1         32-1483
            1453-2246           AK097815.1         1485-2278
            2247-2254           AI027533.1         8-15                c
FEATURES             Location/Qualifiers
     source          1..2254
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp22.2"
     gene            1..2254
                     /gene="HCCS"
                     /gene_synonym="CCHL; LSDMCA1; MCOPS7; MLS"
                     /note="holocytochrome c synthase"
                     /db_xref="GeneID:3052"
                     /db_xref="HGNC:HGNC:4837"
                     /db_xref="MIM:300056"
     exon            1..129
                     /gene="HCCS"
                     /gene_synonym="CCHL; LSDMCA1; MCOPS7; MLS"
                     /inference="alignment:Splign:2.1.0"
     exon            130..271
                     /gene="HCCS"
                     /gene_synonym="CCHL; LSDMCA1; MCOPS7; MLS"
                     /inference="alignment:Splign:2.1.0"
     CDS             172..978
                     /gene="HCCS"
                     /gene_synonym="CCHL; LSDMCA1; MCOPS7; MLS"
                     /EC_number="4.4.1.17"
                     /note="cytochrome c heme-lyase; cytochrome c-type heme
                     lyase; microphthalamia with linear skin defects;
                     microphthalmia with linear skin defects; holocytochrome-c
                     synthetase"
                     /codon_start=1
                     /product="holocytochrome c-type synthase"
                     /protein_id="NP_001116080.1"
                     /db_xref="CCDS:CCDS14139.1"
                     /db_xref="GeneID:3052"
                     /db_xref="HGNC:HGNC:4837"
                     /db_xref="MIM:300056"
                     /translation="MGLSPSAPAVAVQASNASASPPSGCPMHEGKMKGCPVNTEPSGP
                     TCEKKTYSVPAHQERAYEYVECPIRGTAAENKENLDPSNLMPPPNQTPAPDQPFALST
                     VREESSIPRADSEKKWVYPSEQMFWNAMLKKGWKWKDEDISQKDMYNIIRIHNQNNEQ
                     AWKEILKWEALHAAECPCGPSLIRFGGKAKEYSPRARIRSWMGYELPFDRHDWIINRC
                     GTEVRYVIDYYDGGEVNKDYQFTILDVRPALDSLSAVWDRMKVAWWRWTS"
     exon            272..423
                     /gene="HCCS"
                     /gene_synonym="CCHL; LSDMCA1; MCOPS7; MLS"
                     /inference="alignment:Splign:2.1.0"
     exon            424..572
                     /gene="HCCS"
                     /gene_synonym="CCHL; LSDMCA1; MCOPS7; MLS"
                     /inference="alignment:Splign:2.1.0"
     exon            573..692
                     /gene="HCCS"
                     /gene_synonym="CCHL; LSDMCA1; MCOPS7; MLS"
                     /inference="alignment:Splign:2.1.0"
     exon            693..779
                     /gene="HCCS"
                     /gene_synonym="CCHL; LSDMCA1; MCOPS7; MLS"
                     /inference="alignment:Splign:2.1.0"
     exon            780..2254
                     /gene="HCCS"
                     /gene_synonym="CCHL; LSDMCA1; MCOPS7; MLS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1028..1033
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HCCS"
                     /gene_synonym="CCHL; LSDMCA1; MCOPS7; MLS"
                     /note="hexamer: ATTAAA"
     polyA_site      1047
                     /gene="HCCS"
                     /gene_synonym="CCHL; LSDMCA1; MCOPS7; MLS"
                     /note="major polyA site"
     regulatory      2223..2228
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HCCS"
                     /gene_synonym="CCHL; LSDMCA1; MCOPS7; MLS"
                     /note="hexamer: AATAAA"
     polyA_site      2254
                     /gene="HCCS"
                     /gene_synonym="CCHL; LSDMCA1; MCOPS7; MLS"
ORIGIN      
        1 acagcggtga ccgagtgaga ggaaggcggc ggcggcggcg gcggcggcgt gaagtcactg
       61 ctgctctggg ttcgggttgg cgactgaagg cggtaccggc ctcccggaac agcccggggg
      121 agggcttagg tggaaattta aaattgttta cagtcaacac tgtttccagc catgggtttg
      181 tctccatctg ctcctgctgt tgcagttcag gcctcaaatg cttcagcgtc cccaccttca
      241 ggatgcccga tgcatgaagg gaaaatgaaa ggctgtccag tgaatacaga gccatctggc
      301 ccaacctgtg agaagaaaac atactctgtg cctgcccacc aggaacgcgc ctatgagtac
      361 gtggagtgtc ccattagggg cactgcggct gagaataagg agaacctaga tccttcaaat
      421 ctgatgccac caccaaatca aacaccagct ccagatcagc catttgcatt gtctactgtc
      481 agagaagagt catccattcc gagagcagat tcagagaaaa agtgggttta cccttctgag
      541 cagatgttct ggaatgcaat gttaaagaaa gggtggaagt ggaaggatga ggatatcagt
      601 cagaaggata tgtataatat cattagaatt cacaatcaga ataacgagca ggcttggaag
      661 gagattttga agtgggaagc ccttcatgct gcagagtgtc cttgtggtcc atcattgatc
      721 cggtttggag ggaaagcaaa agagtattca ccaagggcac gaattcgttc ctggatgggg
      781 tatgagttgc cttttgatag gcacgattgg atcataaacc gttgcgggac agaagttaga
      841 tatgtgattg attattatga tggtggtgaa gtcaacaagg actaccagtt caccatcctg
      901 gacgtccgtc ctgccttaga ttcactttcg gcagtatggg acagaatgaa agtcgcttgg
      961 tggcgttgga cctcgtaaag cactgtttca gatggaaaaa tataaactat ttttttctga
     1021 gcgatacatt aaactatttt ccccagattg aattgcactc atgatgtaat gggaacttca
     1081 agtgggtaat cacacttttt ccttcactta acgaaggata ctatgcactg ttcacttttg
     1141 acttgtgttg taccttgcag tttatagcag atcattttgt tttcttccta cttagcttaa
     1201 gtgggaagca gtctctcagt ttttccttta cctgcagtat tgtctgtata tttcatctcg
     1261 aaaagcctga acaacctctg aaaaagagct tttaaaaagt gatgaaagtt gctttttttt
     1321 cttactattt tctcaggaat actccagaga tgtaaagcct gagagtccat ggtgatgctc
     1381 aagagctttc atctggccaa atattttaac taaagctgtt cattataaat aagaggtgat
     1441 tatacctttt ttaaaaaaag ttaccattat ttctaaagcc cctatggtat gattgtgacc
     1501 tttaacaaaa tgcaaaggta tacactggaa aggtactcag caaaattctc tccaaattct
     1561 gatttatatg aatttcttgg actggataga gtactttcaa ctataccttc ctttggaaca
     1621 taccttttaa aaaatgttcc ctttaaatcc tgttattcta atatgtaact ctgctcccaa
     1681 caaacaggtc tcctcattgt ccttggcatt tgacaagtta tcccaacttc gaatctcatt
     1741 tcttcctttg ctggcagcct ccacccttcc ccacatcagt cggcctaatc caaaccttga
     1801 aagcctggct taagtcccag tatcagtgat ggtccccctc taaaacatga ttttatattt
     1861 ggctgagtgt taaaattcac aagatgagca tttttttccc agatggagaa cgcttcaact
     1921 cagtctagat tttttttgtt tgttttaagg aagctctaag tttgccattg aaactttttg
     1981 taccagtaat ccataaactg gttgttctat ttatagcagc atgttacaaa tgactgcttt
     2041 ttttttttaa ctgtctatac tattaaatcc tttaatttat cctgaatgct gtagtgttaa
     2101 attagtggat gaaattggca gtctgtgggt gattaatttg gtatggattt gtcagttttg
     2161 tgtggagttt aagaaataga acagccttaa actctacatt tcaaaatact tgtatatttt
     2221 aaaataaagc tgattagttc acaggttttg aaaa
//
