LOCUS       NM_032861               3936 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens serine active site containing 1 (SERAC1), transcript
            variant 1, mRNA.
ACCESSION   NM_032861
VERSION     NM_032861.4
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 3936)
  AUTHORS   Felhi,R., Monastiri,K., Ben Hamida,H., Ammar,M., Chioukh,F.Z.,
            Tabarki,B., Chouchen,J., Fakhfakh,F., Tlili,A. and Mkaouar-Rebai,E.
  TITLE     First description of the MEGDEHL syndrome in the Tunisian
            population via whole-exome sequencing: Novel nonsense mutation in
            SERAC1 gene
  JOURNAL   Int J Dev Neurosci 82 (8), 736-747 (2022)
   PUBMED   35943861
  REMARK    GeneRIF: First description of the MEGDEHL syndrome in the Tunisian
            population via whole-exome sequencing: Novel nonsense mutation in
            SERAC1 gene.
REFERENCE   2  (bases 1 to 3936)
  AUTHORS   Fellman,V., Banerjee,R., Lin,K.L., Pulli,I., Cooper,H.,
            Tyynismaa,H. and Kallijarvi,J.
  TITLE     Severe neonatal MEGDHEL syndrome with a homozygous truncating
            mutation in SERAC1
  JOURNAL   Biochim Biophys Acta Mol Basis Dis 1868 (1), 166298 (2022)
   PUBMED   34751152
  REMARK    GeneRIF: Severe neonatal MEGDHEL syndrome with a homozygous
            truncating mutation in SERAC1.
REFERENCE   3  (bases 1 to 3936)
  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 3936)
  AUTHORS   Iwanicka-Pronicka,K., Ciara,E., Piekutowska-Abramczuk,D., Halat,P.,
            Pajdowska,M. and Pronicki,M.
  TITLE     Congenital cochlear deafness in mitochondrial diseases related to
            RRM2B and SERAC1 gene defects. A study of the mitochondrial
            patients of the CMHI hospital in Warsaw, Poland
  JOURNAL   Int J Pediatr Otorhinolaryngol 121, 143-149 (2019)
   PUBMED   30909120
  REMARK    GeneRIF: Our study indicates that the cochlear CHI is a phenotypic
            feature of the RRM2B and SERAC1 related defects.
REFERENCE   5  (bases 1 to 3936)
  AUTHORS   Maas,R.R., Iwanicka-Pronicka,K., Kalkan Ucar,S., Alhaddad,B.,
            AlSayed,M., Al-Owain,M.A., Al-Zaidan,H.I., Balasubramaniam,S.,
            Baric,I., Bubshait,D.K., Burlina,A., Christodoulou,J., Chung,W.K.,
            Colombo,R., Darin,N., Freisinger,P., Garcia Silva,M.T.,
            Grunewald,S., Haack,T.B., van Hasselt,P.M., Hikmat,O., Horster,F.,
            Isohanni,P., Ramzan,K., Kovacs-Nagy,R., Krumina,Z.,
            Martin-Hernandez,E., Mayr,J.A., McClean,P., De Meirleir,L.,
            Naess,K., Ngu,L.H., Pajdowska,M., Rahman,S., Riordan,G., Riley,L.,
            Roeben,B., Rutsch,F., Santer,R., Schiff,M., Seders,M., Sequeira,S.,
            Sperl,W., Staufner,C., Synofzik,M., Taylor,R.W., Trubicka,J.,
            Tsiakas,K., Unal,O., Wassmer,E., Wedatilake,Y., Wolff,T.,
            Prokisch,H., Morava,E., Pronicka,E., Wevers,R.A., de Brouwer,A.P.
            and Wortmann,S.B.
  TITLE     Progressive deafness-dystonia due to SERAC1 mutations: A study of
            67 cases
  JOURNAL   Ann Neurol 82 (6), 1004-1015 (2017)
   PUBMED   29205472
  REMARK    GeneRIF: Several different SERAC1 variants were identified from
            individuals with Deafness-Dystonia syndrome.
REFERENCE   6  (bases 1 to 3936)
  AUTHORS   Piura,E. and Piura,B.
  TITLE     Autoantibodies to tailor-made panels of tumor-associated antigens
            in breast carcinoma
  JOURNAL   J Oncol 2011, 982425 (2011)
   PUBMED   21423545
REFERENCE   7  (bases 1 to 3936)
  AUTHORS   Palidwor,G.A., Shcherbinin,S., Huska,M.R., Rasko,T., Stelzl,U.,
            Arumughan,A., Foulle,R., Porras,P., Sanchez-Pulido,L., Wanker,E.E.
            and Andrade-Navarro,M.A.
  TITLE     Detection of alpha-rod protein repeats using a neural network and
            application to huntingtin
  JOURNAL   PLoS Comput Biol 5 (3), e1000304 (2009)
   PUBMED   19282972
REFERENCE   8  (bases 1 to 3936)
  AUTHORS   Wortmann,S., Rodenburg,R.J., Huizing,M., Loupatty,F.J., de
            Koning,T., Kluijtmans,L.A., Engelke,U., Wevers,R., Smeitink,J.A.
            and Morava,E.
  TITLE     Association of 3-methylglutaconic aciduria with sensori-neural
            deafness, encephalopathy, and Leigh-like syndrome (MEGDEL
            association) in four patients with a disorder of the oxidative
            phosphorylation
  JOURNAL   Mol Genet Metab 88 (1), 47-52 (2006)
   PUBMED   16527507
REFERENCE   9  (bases 1 to 3936)
  AUTHORS   Mungall,A.J., Palmer,S.A., Sims,S.K., Edwards,C.A., Ashurst,J.L.,
            Wilming,L., Jones,M.C., Horton,R., Hunt,S.E., Scott,C.E.,
            Gilbert,J.G., Clamp,M.E., Bethel,G., Milne,S., Ainscough,R.,
            Almeida,J.P., Ambrose,K.D., Andrews,T.D., Ashwell,R.I.,
            Babbage,A.K., Bagguley,C.L., Bailey,J., Banerjee,R., Barker,D.J.,
            Barlow,K.F., Bates,K., Beare,D.M., Beasley,H., Beasley,O.,
            Bird,C.P., Blakey,S., Bray-Allen,S., Brook,J., Brown,A.J.,
            Brown,J.Y., Burford,D.C., Burrill,W., Burton,J., Carder,C.,
            Carter,N.P., Chapman,J.C., Clark,S.Y., Clark,G., Clee,C.M.,
            Clegg,S., Cobley,V., Collier,R.E., Collins,J.E., Colman,L.K.,
            Corby,N.R., Coville,G.J., Culley,K.M., Dhami,P., Davies,J.,
            Dunn,M., Earthrowl,M.E., Ellington,A.E., Evans,K.A., Faulkner,L.,
            Francis,M.D., Frankish,A., Frankland,J., French,L., Garner,P.,
            Garnett,J., Ghori,M.J., Gilby,L.M., Gillson,C.J., Glithero,R.J.,
            Grafham,D.V., Grant,M., Gribble,S., Griffiths,C., Griffiths,M.,
            Hall,R., Halls,K.S., Hammond,S., Harley,J.L., Hart,E.A.,
            Heath,P.D., Heathcott,R., Holmes,S.J., Howden,P.J., Howe,K.L.,
            Howell,G.R., Huckle,E., Humphray,S.J., Humphries,M.D., Hunt,A.R.,
            Johnson,C.M., Joy,A.A., Kay,M., Keenan,S.J., Kimberley,A.M.,
            King,A., Laird,G.K., Langford,C., Lawlor,S., Leongamornlert,D.A.,
            Leversha,M., Lloyd,C.R., Lloyd,D.M., Loveland,J.E., Lovell,J.,
            Martin,S., Mashreghi-Mohammadi,M., Maslen,G.L., Matthews,L.,
            McCann,O.T., McLaren,S.J., McLay,K., McMurray,A., Moore,M.J.,
            Mullikin,J.C., Niblett,D., Nickerson,T., Novik,K.L., Oliver,K.,
            Overton-Larty,E.K., Parker,A., Patel,R., Pearce,A.V., Peck,A.I.,
            Phillimore,B., Phillips,S., Plumb,R.W., Porter,K.M., Ramsey,Y.,
            Ranby,S.A., Rice,C.M., Ross,M.T., Searle,S.M., Sehra,H.K.,
            Sheridan,E., Skuce,C.D., Smith,S., Smith,M., Spraggon,L.,
            Squares,S.L., Steward,C.A., Sycamore,N., Tamlyn-Hall,G., Tester,J.,
            Theaker,A.J., Thomas,D.W., Thorpe,A., Tracey,A., Tromans,A.,
            Tubby,B., Wall,M., Wallis,J.M., West,A.P., White,S.S.,
            Whitehead,S.L., Whittaker,H., Wild,A., Willey,D.J., Wilmer,T.E.,
            Wood,J.M., Wray,P.W., Wyatt,J.C., Young,L., Younger,R.M.,
            Bentley,D.R., Coulson,A., Durbin,R., Hubbard,T., Sulston,J.E.,
            Dunham,I., Rogers,J. and Beck,S.
  TITLE     The DNA sequence and analysis of human chromosome 6
  JOURNAL   Nature 425 (6960), 805-811 (2003)
   PUBMED   14574404
REFERENCE   10 (bases 1 to 3936)
  AUTHORS   Wortmann,S.B., de Brouwer,A.P.M., Wevers,R.A. and Morava,E.
  TITLE     SERAC1 Deficiency
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   24741715
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK027823.1 and BC001705.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_032861.3.
            
            Summary: The protein encoded by this gene is a phosphatidylglycerol
            remodeling protein found at the interface of mitochondria and
            endoplasmic reticula, where it mediates phospholipid exchange. The
            encoded protein plays a major role in mitochondrial function and
            intracellular cholesterol trafficking. Defects in this gene are a
            cause of 3-methylglutaconic aciduria with deafness, encephalopathy,
            and Leigh-like syndrome (MEGDEL). Two transcript variants, one
            protein-coding and the other non-protein coding, have been found
            for this gene. [provided by RefSeq, Aug 2012].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and is the protein-coding variant.
            
            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 :: SRR1660809.152931.1,
                                           SRR1660809.34134.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000647468.2/ ENSP00000496731.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2219              AK027823.1         9-2227
            2220-3936           BC001705.1         2195-3911
FEATURES             Location/Qualifiers
     source          1..3936
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q25.3"
     gene            1..3936
                     /gene="SERAC1"
                     /note="serine active site containing 1"
                     /db_xref="GeneID:84947"
                     /db_xref="HGNC:HGNC:21061"
                     /db_xref="MIM:614725"
     exon            1..123
                     /gene="SERAC1"
                     /inference="alignment:Splign:2.1.0"
     exon            124..215
                     /gene="SERAC1"
                     /inference="alignment:Splign:2.1.0"
     CDS             125..2089
                     /gene="SERAC1"
                     /note="serine active site-containing protein 1"
                     /codon_start=1
                     /product="protein SERAC1"
                     /protein_id="NP_116250.3"
                     /db_xref="CCDS:CCDS5255.1"
                     /db_xref="GeneID:84947"
                     /db_xref="HGNC:HGNC:21061"
                     /db_xref="MIM:614725"
                     /translation="MSLAAYCVICCRRIGTSTSPPKSGTHWRDIRNIIKFTGSLILGG
                     SLFLTYEVLALKKAVTLDTQVVEREKMKSYIYVHTVSLDKGENHGIAWQARKELHKAV
                     RKVLATSAKILRNPFADPFSTVDIEDHECAVWLLLRKSKSDDKTTRLEAVREMSETHH
                     WHDYQYRIIAQACDPKTLIGLARSEESDLRFFLLPPPLPSLKEDSSTEEELRQLLASL
                     PQTELDECIQYFTSLALSESSQSLAAQKGGLWCFGGNGLPYAESFGEVPSATVEMFCL
                     EAIVKHSEISTHCDKIEANGGLQLLQRLYRLHKDCPKVQRNIMRVIGNMALNEHLHSS
                     IVRSGWVSIMAEAMKSPHIMESSHAARILANLDRETVQEKYQDGVYVLHPQYRTSQPI
                     KADVLFIHGLMGAAFKTWRQQDSEQAVIEKPMEDEDRYTTCWPKTWLAKDCPALRIIS
                     VEYDTSLSDWRARCPMERKSIAFRSNELLRKLRAAGVGDRPVVWISHSMGGLLVKKML
                     LEASTKPEMSTVINNTRGIIFYSVPHHGSRLAEYSVNIRYLLFPSLEVKELSKDSPAL
                     KTLQDDFLEFAKDKNFQVLNFVETLPTYIGSMIKLHVVPVESADLGIGDLIPVDVNHL
                     NICKPKKKDAFLYQRTLQFIREALAKDLEN"
     exon            216..252
                     /gene="SERAC1"
                     /inference="alignment:Splign:2.1.0"
     exon            253..389
                     /gene="SERAC1"
                     /inference="alignment:Splign:2.1.0"
     exon            390..479
                     /gene="SERAC1"
                     /inference="alignment:Splign:2.1.0"
     exon            480..611
                     /gene="SERAC1"
                     /inference="alignment:Splign:2.1.0"
     exon            612..733
                     /gene="SERAC1"
                     /inference="alignment:Splign:2.1.0"
     exon            734..862
                     /gene="SERAC1"
                     /inference="alignment:Splign:2.1.0"
     exon            863..976
                     /gene="SERAC1"
                     /inference="alignment:Splign:2.1.0"
     exon            977..1139
                     /gene="SERAC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1140..1290
                     /gene="SERAC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1291..1432
                     /gene="SERAC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1433..1527
                     /gene="SERAC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1528..1625
                     /gene="SERAC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1626..1808
                     /gene="SERAC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1809..1952
                     /gene="SERAC1"
                     /inference="alignment:Splign:2.1.0"
     exon            1953..3936
                     /gene="SERAC1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3917..3922
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SERAC1"
                     /note="hexamer: AATAAA"
     polyA_site      3936
                     /gene="SERAC1"
                     /note="major polyA site"
ORIGIN      
        1 ggggtcacga gccgccagcc gccgggtgga gggtcccggc cgggagccgc ggaaagagta
       61 gggctcccca gacaacgggg tccgacgagc agttgggcac gggctgagtc cgcctgccgg
      121 cagaatgtcc ctggctgctt attgcgtcat ctgttgcaga agaataggaa cctctacttc
      181 cccaccaaaa agtggcacac actggagaga tatcagaaat ataataaagt ttactggatc
      241 acttatttta ggaggttctt tatttcttac atatgaagtt ctggccctga agaaggctgt
      301 gacattagat actcaagtgg tagaacgaga aaaaatgaag tcatatatat atgtgcacac
      361 agtttcttta gacaaaggag aaaatcatgg tattgcctgg caggcaagaa aagaacttca
      421 caaagcagta agaaaagtat tggcaacatc agccaagata ctgcggaatc catttgctga
      481 tccttttagt acagttgata tagaagatca tgagtgtgct gtgtggctgc tcctacggaa
      541 gagcaagtca gatgacaaaa ccacgcgact cgaggctgtg cgggaaatgt cggagaccca
      601 tcactggcat gattaccagt ataggataat tgctcaagcc tgtgatccga aaactcttat
      661 tggtttggca cgaagcgaag agagtgatct tcgctttttt ctcctaccac ctcctttgcc
      721 atctttaaaa gaagattctt ccactgaaga agagctcaga cagttgctgg cttccttacc
      781 tcaaacagag ctagatgagt gtatccagta ttttacatct ttggctctta gtgaaagcag
      841 tcagagtcta gctgctcaga agggtggttt atggtgtttt ggaggaaatg gacttcctta
      901 tgctgaaagt tttggagaag ttccttcagc aacagtggaa atgttctgtt tagaagctat
      961 agtaaaacat tctgagatat ccacacattg tgataaaatc gaagcaaatg gaggcctgca
     1021 gctacttcag aggctgtacc gacttcacaa ggactgccct aaagtacaga gaaatataat
     1081 gcgtgtcatt ggaaatatgg ctttgaatga acatcttcat tcttctatag ttcgctcagg
     1141 ctgggtttcc atcatggcag aagcaatgaa atctccccac attatggagt cctcacacgc
     1201 tgccagaatc ctggcaaatc tagaccgaga aactgtgcaa gaaaaatatc aggatggcgt
     1261 atatgtgctg catccccaat atcgaacaag tcagcccatt aaagcagatg tcctttttat
     1321 tcatggcctt atgggagcag cattcaaaac atggcgccag caggacagtg agcaggctgt
     1381 aattgaaaaa cctatggagg atgaagacag atatacgacg tgctggccca agacatggtt
     1441 agcaaaagac tgtcctgctc tccgaattat atctgtggag tatgacacca gcctcagcga
     1501 ctggagagca aggtgcccta tggaaagaaa gtccattgca ttcagaagca acgaacttct
     1561 taggaagctc agagctgctg gtgttgggga taggccagtg gtttggatat cacatagcat
     1621 gggaggtctt cttgtcaaaa agatgctgtt ggaagcctct acgaagccag aaatgagtac
     1681 tgttatcaac aataccagag gaataatttt ttatagtgtc cctcatcatg gatcacgttt
     1741 ggctgaatac tctgttaata ttcgctatct tctcttcccc tcgttggaag tcaaagaact
     1801 cagcaaggat tctcctgcac ttaaaacact acaagatgac tttctggagt ttgctaaaga
     1861 caaaaacttc caggtgctga attttgtgga aacactacca acctacattg gcagcatgat
     1921 taagctccat gtggtacctg tggaatcagc agatttaggc attggagatc taattcctgt
     1981 ggatgttaac catttgaaca tttgtaagcc aaagaaaaag gatgcttttt tgtaccagcg
     2041 tactttacaa ttcattcgtg aagctttagc caaagacctt gaaaactaac agttgtgctc
     2101 ttccagtttt catatgtgaa ttcagtgcaa gaaacttggt gttctgtttc ttcttttaag
     2161 ctctatgcaa tcatgcaaac atagtgatca tagcgtcaac atggtctgga gtgtgttgca
     2221 gactacagaa cattgttctc ccttcaagcg ctgtaaagca ccaacccgga agtggcaggc
     2281 acagaaggaa gggctggatt gggccccttt ggtgtaaaga agtccctgtg tgctgcttta
     2341 tggttcgcag tgttgggctt ggtgactgga gcaaagctgc tgtgagagag tgtcctttcc
     2401 catctgtgac tttcctggtg catccaggag gggcacggca ggttctgagg taactcaact
     2461 taccataaaa atgccattaa gagagtacct aaaatggaga gaagaatgaa ctagaacatt
     2521 caagactctt ttacttctgg gtattgattt gctgtacatt tttaaagttt gagtttttag
     2581 ctcagttcta ccttttatct gacacattat tactagtgtt aactttgtta gacttattgt
     2641 catgtctggg tcagttcctt gtatctattt tcgtattcct gagaacaaat ctttttctta
     2701 gaaaaattct agcttataat aattcttttc agactgtagc tgcctatgct tggaatttgt
     2761 cctagataag gataaagtag ctaatccatt attgatcaca gtatgaagta aaactattct
     2821 aagccattat atgaattagc aattcttagt atcaagattc tcagattctc tttggctaaa
     2881 taaacctttc ttcttccttg ctcatttgca agtggtatta attgacctct atagcatgtg
     2941 agtagtagat aatcatgtcg atgacctttt tttctttaga gtaacagcat tattgagata
     3001 taatttacat accataagat tcaccctttt aaattataca attcattttt gttttgtttt
     3061 gtttgtttag agacagggtc tgactctgtt gcccaagctg gagtgcagtg gcatgatcat
     3121 agctcattgt aacctcaaac tcctgggctc aagagatcct tttgcttcag cctcccaagc
     3181 agctaggact acaggcacat gccaccacac ttgggtaatt aaaaaataaa taaatacttt
     3241 tttgtagaga cagggtctca ctgtgttgcc caggtctcaa actcccgatc tcaagccacc
     3301 ctcccaaaat gctgtgatta taggccagag ccattgttcc caggctcaat tcattggttt
     3361 ttagtatagt tcactgagtt gtgcaacatc attgctattt aatttcaggc tatttcatca
     3421 tccccaaaag aaccccatac ccatgagcag tcagttccca cctctgcttt cccaagcctg
     3481 cggtaaacac taatctgttt tctgtctcta tggatttggg aattttatgt aaatggaatc
     3541 atacaatatg tggccctctc tgccttcttc cttctattag catgttttca aggttcattc
     3601 atgatatagc atgtatcagt actacttcat ttctttttat ggccgaaatt actccattgt
     3661 atgatatgcc atgtttcttt atccattcat cagctgatgg acatctaggt tctgttcatt
     3721 tttgtctatg ataaataatg ctaccatgat catttgtgta caaatttatg tgtggataga
     3781 tgtttttgat tctcttgggt ggaattgctg gtcaaatggt aagtctatgt ttaaattttg
     3841 aagatggtga acttttgtag aatgagatag tcgaagctaa aactggagta tggcatctga
     3901 aggtaaatgg ctcatcaata aactcgatat caacaa
//
