LOCUS       NM_033428               2456 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens distal membrane arm assembly component 1 (DMAC1),
            transcript variant 2, mRNA.
ACCESSION   NM_033428 XM_372075
VERSION     NM_033428.3
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 2456)
  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 2456)
  AUTHORS   Stroud,D.A., Surgenor,E.E., Formosa,L.E., Reljic,B., Frazier,A.E.,
            Dibley,M.G., Osellame,L.D., Stait,T., Beilharz,T.H., Thorburn,D.R.,
            Salim,A. and Ryan,M.T.
  TITLE     Accessory subunits are integral for assembly and function of human
            mitochondrial complex I
  JOURNAL   Nature 538 (7623), 123-126 (2016)
   PUBMED   27626371
REFERENCE   3  (bases 1 to 2456)
  AUTHORS   Wu,J., Liu,S., Liu,G., Dombkowski,A., Abrams,J., Martin-Trevino,R.,
            Wicha,M.S., Ethier,S.P. and Yang,Z.Q.
  TITLE     Identification and functional analysis of 9p24 amplified genes in
            human breast cancer
  JOURNAL   Oncogene 31 (3), 333-341 (2012)
   PUBMED   21666724
REFERENCE   4  (bases 1 to 2456)
  AUTHORS   Trynka,G., Zhernakova,A., Romanos,J., Franke,L., Hunt,K.A.,
            Turner,G., Bruinenberg,M., Heap,G.A., Platteel,M., Ryan,A.W., de
            Kovel,C., Holmes,G.K., Howdle,P.D., Walters,J.R., Sanders,D.S.,
            Mulder,C.J., Mearin,M.L., Verbeek,W.H., Trimble,V., Stevens,F.M.,
            Kelleher,D., Barisani,D., Bardella,M.T., McManus,R., van Heel,D.A.
            and Wijmenga,C.
  TITLE     Coeliac disease-associated risk variants in TNFAIP3 and REL
            implicate altered NF-kappaB signalling
  JOURNAL   Gut 58 (8), 1078-1083 (2009)
   PUBMED   19240061
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (bases 1 to 2456)
  AUTHORS   Humphray,S.J., Oliver,K., Hunt,A.R., Plumb,R.W., Loveland,J.E.,
            Howe,K.L., Andrews,T.D., Searle,S., Hunt,S.E., Scott,C.E.,
            Jones,M.C., Ainscough,R., Almeida,J.P., Ambrose,K.D., Ashwell,R.I.,
            Babbage,A.K., Babbage,S., Bagguley,C.L., Bailey,J., Banerjee,R.,
            Barker,D.J., Barlow,K.F., Bates,K., Beasley,H., Beasley,O.,
            Bird,C.P., Bray-Allen,S., Brown,A.J., Brown,J.Y., Burford,D.,
            Burrill,W., Burton,J., Carder,C., Carter,N.P., Chapman,J.C.,
            Chen,Y., Clarke,G., Clark,S.Y., Clee,C.M., Clegg,S., Collier,R.E.,
            Corby,N., Crosier,M., Cummings,A.T., Davies,J., Dhami,P., Dunn,M.,
            Dutta,I., Dyer,L.W., Earthrowl,M.E., Faulkner,L., Fleming,C.J.,
            Frankish,A., Frankland,J.A., French,L., Fricker,D.G., Garner,P.,
            Garnett,J., Ghori,J., Gilbert,J.G., Glison,C., Grafham,D.V.,
            Gribble,S., Griffiths,C., Griffiths-Jones,S., Grocock,R., Guy,J.,
            Hall,R.E., Hammond,S., Harley,J.L., Harrison,E.S., Hart,E.A.,
            Heath,P.D., Henderson,C.D., Hopkins,B.L., Howard,P.J., Howden,P.J.,
            Huckle,E., Johnson,C., Johnson,D., Joy,A.A., Kay,M., Keenan,S.,
            Kershaw,J.K., Kimberley,A.M., King,A., Knights,A., Laird,G.K.,
            Langford,C., Lawlor,S., Leongamornlert,D.A., Leversha,M., Lloyd,C.,
            Lloyd,D.M., Lovell,J., Martin,S., Mashreghi-Mohammadi,M.,
            Matthews,L., McLaren,S., McLay,K.E., McMurray,A., Milne,S.,
            Nickerson,T., Nisbett,J., Nordsiek,G., Pearce,A.V., Peck,A.I.,
            Porter,K.M., Pandian,R., Pelan,S., Phillimore,B., Povey,S.,
            Ramsey,Y., Rand,V., Scharfe,M., Sehra,H.K., Shownkeen,R.,
            Sims,S.K., Skuce,C.D., Smith,M., Steward,C.A., Swarbreck,D.,
            Sycamore,N., Tester,J., Thorpe,A., Tracey,A., Tromans,A.,
            Thomas,D.W., Wall,M., Wallis,J.M., West,A.P., Whitehead,S.L.,
            Willey,D.L., Williams,S.A., Wilming,L., Wray,P.W., Young,L.,
            Ashurst,J.L., Coulson,A., Blocker,H., Durbin,R., Sulston,J.E.,
            Hubbard,T., Jackson,M.J., Bentley,D.R., Beck,S., Rogers,J. and
            Dunham,I.
  TITLE     DNA sequence and analysis of human chromosome 9
  JOURNAL   Nature 429 (6990), 369-374 (2004)
   PUBMED   15164053
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BI550091.1, AL137489.1, AI310403.1, AI284226.1, AL354694.18 and
            CA438622.1.
            
            On Nov 22, 2018 this sequence version replaced NM_033428.2.
            
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice site in the 3' coding region compared to variant 1. It
            encodes isoform 2, which is shorter than isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK292632.1, SRR1660803.208379.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000358227.5/ ENSP00000350961.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-285               BI550091.1         29-313
            286-437             AL137489.1         118-269
            438-438             AI310403.1         179-179             c
            439-520             AL137489.1         271-352
            521-521             AI284226.1         98-98               c
            522-835             AL137489.1         354-667
            836-836             AL354694.18        116207-116207       c
            837-2107            AL137489.1         669-1939
            2108-2456           CA438622.1         17-365              c
FEATURES             Location/Qualifiers
     source          1..2456
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p24.1"
     gene            1..2456
                     /gene="DMAC1"
                     /gene_synonym="C9orf123; TMEM261"
                     /note="distal membrane arm assembly component 1"
                     /db_xref="GeneID:90871"
                     /db_xref="HGNC:HGNC:30536"
                     /db_xref="MIM:617261"
     exon            1..318
                     /gene="DMAC1"
                     /gene_synonym="C9orf123; TMEM261"
                     /inference="alignment:Splign:2.1.0"
     CDS             45..383
                     /gene="DMAC1"
                     /gene_synonym="C9orf123; TMEM261"
                     /note="isoform 2 is encoded by transcript variant 2;
                     transmembrane protein C9orf123; transmembrane protein 261;
                     distal membrane-arm assembly complex protein 1; distal
                     membrane arm assembly complex 1"
                     /codon_start=1
                     /product="distal membrane-arm assembly complex protein 1
                     isoform 2"
                     /protein_id="NP_219500.1"
                     /db_xref="CCDS:CCDS34989.1"
                     /db_xref="GeneID:90871"
                     /db_xref="HGNC:HGNC:30536"
                     /db_xref="MIM:617261"
                     /translation="MGSRLSQPFESYITAPPGTAAAPAKPAPPATPGAPTSPAEHRLL
                     KTCWSCRVLSGLGLMGAGGYVYWVARKPMKMGYPPSPWTITQMVIGLSIATWGIVVMA
                     DPKGKAYRVV"
     exon            319..2456
                     /gene="DMAC1"
                     /gene_synonym="C9orf123; TMEM261"
                     /inference="alignment:Splign:2.1.0"
     regulatory      590..595
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DMAC1"
                     /gene_synonym="C9orf123; TMEM261"
                     /note="hexamer: AATAAA"
     polyA_site      612
                     /gene="DMAC1"
                     /gene_synonym="C9orf123; TMEM261"
                     /note="major polyA site"
     regulatory      2432..2437
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DMAC1"
                     /gene_synonym="C9orf123; TMEM261"
                     /note="hexamer: AATAAA"
     polyA_site      2456
                     /gene="DMAC1"
                     /gene_synonym="C9orf123; TMEM261"
ORIGIN      
        1 agtttgaacc aaagacgccc aaggttgagg ccgagttcca gagcatgggg tctcggttgt
       61 cccagccttt tgagtcctat atcactgcgc ctcccggtac cgccgccgcg cccgccaaac
      121 ctgcgccccc agctacaccc ggagcgccga cctccccagc agaacaccgc ctgttgaaga
      181 cctgctggag ctgtcgcgtg ctttctgggt tggggctgat gggggcgggc gggtacgtgt
      241 actgggtggc acggaagccc atgaagatgg gatacccccc gagtccatgg accattacgc
      301 agatggtcat cggcctcagc attgccacct ggggtatcgt tgtcatggca gaccccaaag
      361 ggaaggccta ccgcgttgtt tgaaagtacc accagtgaat ctgtcttctg tctctgtccc
      421 tttccccgtg acacacacag caggcatgga atttaatggg tgttctggac agacacttgt
      481 acatggacag acatcactac tgtggatact acaagactga gaagaaaatc gtatgttgtc
      541 attctctggc tatggagtgt ttgtggcctt cacagatttc acaggaacca ataaatccct
      601 cagagaagta aacaggttct ttgtcttatc tggggaagga aagtataact tatatttaaa
      661 tataattgct taattaagca ttatatataa acataatagt atgtcttata taattgcatg
      721 tcatattata tataataaac ataaatatgt ttagttatat agttagtata atttttaaaa
      781 cttttaaata cagcatatgg taaaccaacg ggaaaattag ctattttact tcattatttt
      841 aaagagttct ttttatttct ttcataattg gatcaacaac tgttaaccta accctgggtg
      901 ggcatcatgc aatatataga agtacgtgaa attttctgtg tatgaattgc tgatactttg
      961 caaggcattt tcaaatccat caccttatga gagcttcaca gctagtctga ggtagttact
     1021 tcattggagg taaaacttaa aacacaagaa agagcccaca tgatttgcct agggtcattc
     1081 agtaagtccg tgatggagct agaacttgtt cttgtcagtt ttttgttcta gtcttccctt
     1141 tcatggaggc aagaataacc attatgaaac agttagataa tcataaaaat cagcatacaa
     1201 taaaagactt aaatgtcaca agaaaaattc aaaaccttta gctaaaaaaa aaaaagatct
     1261 tttgattctt tttccacaag cactagatat gtttctgtga tgattttgag ataagtactc
     1321 aaaattacat agttcatttc taagagaagg ccatgttttc tacctattgg gtttttctac
     1381 cctgagatac tatggcttct ttgtaaaggt atataaagtg tttttcaaag cggaaagata
     1441 ctgttaaatt cagctgctaa tcatagtgta tttgtttgga atgacatgtt gagcaggtag
     1501 tacctttacg gctgttgctt tttgcagcat tatgtggaag tgcctaagtc tatttagcct
     1561 cacagatgac tttagaatct tgtattttct acatcagagt tcatagcggg gatggtgcta
     1621 catatatcta tgcaactgaa aaagaaaaca tttcaaacct aaagtacgca acaagatatt
     1681 atttatatga aatccatagc tcagttatgc tatgttcatg aatagagaag ttttaagttg
     1741 gaagggacca tggatgaccc aaagcagata catatggtca ttcatatacc taaaatacct
     1801 acaaagacaa gttgttccct ggtttaaaag gcagtctgtt ctattgatgg actgctttag
     1861 tccctgaaca ttttctttgg ttaaaccaaa aacacataaa cctaacttgg tcttggcttg
     1921 atctactggg taaataataa ctcttaaata tatatacagt tgacccttgg acaacacagg
     1981 agttaagagc gctgaacatt tgctcagtgg agaatctgca tataacctga ctcctcaaaa
     2041 acttaattag tagttagttt acaattgact ggaagcctta ttgataacat aaagcagttg
     2101 attaacacat tttttgtgtt gtatgtatta tattccgtat tcttacaaga aggtaagcta
     2161 gagaaaaaaa aaatgttatt aaggaagtaa tatattcact attcgttagg tagaagtgaa
     2221 tcatcctaaa ggtcttcatc ctcatcttca cgctgagtag tctgaggagc aagaggagtt
     2281 ggtctttctg tcccagtggc agaggtggaa gaaaatccac agatacgtgg acctgcgcag
     2341 ttcaaacctg tgttgtttgg gtcaactgta ttgtaatagc attttaatgt ttttctcaga
     2401 cttttacgag tatgaatctg agctttttct gaataaacct gcctgctcac cattaa
//
