LOCUS       NM_001042493            2438 bp    mRNA    linear   PRI 03-OCT-2024
DEFINITION  Homo sapiens small integral membrane protein 8 (SMIM8), transcript
            variant 1, mRNA.
ACCESSION   NM_001042493
VERSION     NM_001042493.3
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 2438)
  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 2438)
  AUTHORS   Deng,X., Sabino,E.C., Cunha-Neto,E., Ribeiro,A.L., Ianni,B.,
            Mady,C., Busch,M.P. and Seielstad,M.
  CONSRTM   REDSII Chagas Study Group from the NHLBI Retrovirus Epidemiology
            Donor Study-II Component International
  TITLE     Genome wide association study (GWAS) of Chagas cardiomyopathy in
            Trypanosoma cruzi seropositive subjects
  JOURNAL   PLoS One 8 (11), e79629 (2013)
   PUBMED   24324551
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2438)
  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
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BG534658.1, AK311963.1, AL096817.12 and AI239454.1.
            
            On Nov 23, 2018 this sequence version replaced NM_001042493.2.
            
            Transcript Variant: This variant (1) represents the longest
            transcript. Variants 1 and 2 encode the same isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.1016859.1,
                                           SRR1803617.49432.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743, SAMEA2151119
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000392863.6/ ENSP00000376603.1
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-29                BG534658.1         2-30
            30-383              AK311963.1         1-354
            384-2305            AL096817.12        42353-44274
            2306-2437           AI239454.1         1-132               c
            2438-2438           AL096817.12        44407-44407
FEATURES             Location/Qualifiers
     source          1..2438
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q15"
     gene            1..2438
                     /gene="SMIM8"
                     /gene_synonym="C6orf162; dJ102H19.2"
                     /note="small integral membrane protein 8"
                     /db_xref="GeneID:57150"
                     /db_xref="HGNC:HGNC:21401"
     exon            1..45
                     /gene="SMIM8"
                     /gene_synonym="C6orf162; dJ102H19.2"
                     /inference="alignment:Splign:2.1.0"
     exon            46..66
                     /gene="SMIM8"
                     /gene_synonym="C6orf162; dJ102H19.2"
                     /inference="alignment:Splign:2.1.0"
     exon            67..224
                     /gene="SMIM8"
                     /gene_synonym="C6orf162; dJ102H19.2"
                     /inference="alignment:Splign:2.1.0"
     CDS             90..383
                     /gene="SMIM8"
                     /gene_synonym="C6orf162; dJ102H19.2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     UPF0708 protein C6orf162"
                     /codon_start=1
                     /product="small integral membrane protein 8 isoform 1"
                     /protein_id="NP_001035958.1"
                     /db_xref="CCDS:CCDS34496.1"
                     /db_xref="GeneID:57150"
                     /db_xref="HGNC:HGNC:21401"
                     /translation="MSSAPEPPTFKKEPPKEKEFQSPGLRGVRTTTLFRAVNPELFIK
                     PNKPVMAFGLVTLSLCVAYIGYLHAIQENKKDLYEAIDSEGHSYMRRKTSKWD"
     exon            225..2438
                     /gene="SMIM8"
                     /gene_synonym="C6orf162; dJ102H19.2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      668..673
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SMIM8"
                     /gene_synonym="C6orf162; dJ102H19.2"
                     /note="hexamer: AATAAA"
     polyA_site      691
                     /gene="SMIM8"
                     /gene_synonym="C6orf162; dJ102H19.2"
                     /note="major polyA site"
     regulatory      1841..1846
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SMIM8"
                     /gene_synonym="C6orf162; dJ102H19.2"
                     /note="hexamer: AATAAA"
     polyA_site      1868
                     /gene="SMIM8"
                     /gene_synonym="C6orf162; dJ102H19.2"
                     /note="major polyA site"
     polyA_site      1937
                     /gene="SMIM8"
                     /gene_synonym="C6orf162; dJ102H19.2"
     regulatory      2412..2417
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SMIM8"
                     /gene_synonym="C6orf162; dJ102H19.2"
                     /note="hexamer: AATAAA"
     polyA_site      2438
                     /gene="SMIM8"
                     /gene_synonym="C6orf162; dJ102H19.2"
ORIGIN      
        1 ggggcggggc gtctcgggcg aggagaggag gtgaccccgc gaaaggagga tggacagaag
       61 aaaaagataa taaatcatca ttgatcaaga tgtcttcagc acctgagcct ccaacattca
      121 aaaaggaacc acccaaagag aaagagtttc aaagcccagg gctcagaggg gtgcgcacaa
      181 caaccttatt tcgtgctgtg aatccagagc tcttcattaa acctaacaaa cctgtaatgg
      241 ctttcggatt ggtaactctt tcactttgcg tggcatatat tggttatcta catgcaatac
      301 aagagaataa aaaggacctc tatgaagcta ttgatagtga ggggcacagt tatatgaggc
      361 ggaaaacatc caaatgggat tagtagtgct ggttagtgca gatggacctt tattaaaggt
      421 tctgaaatct tcaaatgaaa gaccttgtga gtgtacagta tcatgtttct tgttctagaa
      481 catgctaatg aagagagaag atagcagttg caaccagaca actgtcgtaa attttgtcct
      541 ttcacagctg cagccattat ctcattcttt ttccacagag tgagcgtcat aatatttttc
      601 tttccttacc tcttataaaa gtgccatgag aatggaagtt gtttttgtta attattaaat
      661 tctgtataat aaaagtaccc atgctgttaa atttgcatga tgttttaaat attttaagat
      721 gaattatgcc ggtgcagctg tcgtgaaagt ttacttgtgt tttgctactt gcaaaggaaa
      781 tgttcatgtt ctccctggca tagaacctat atttttaaag aaagataaat agaaatttta
      841 aggcctgaag tcaatattaa aaatatgaga tatgagaaac tgagttggct ctgacaagta
      901 gtttttatag tgtcacaaat ggttcatata tttcagtttc cattttagct atttttggga
      961 cagaatttta ttttaatgga aaagatcctt ccactcagct actaaaataa ggattaagaa
     1021 tatcccagag taattggagt ttttctttaa aaaaaaaaaa aaagtatgtt ttactgaggt
     1081 atgatgattt tgactacaac taaatgttat ctattttagt gtttatgtta attaatgtta
     1141 attaattttg tttatgttaa tttgtgttaa ttaatgttac tgtaatgtta taaacataag
     1201 accaagtgtt cttatagtta tttaaaaact acaactactc aatggataag gaatagataa
     1261 ggtctcctta ttgtaccttt tttttctttt gaagtttata tgccagcagg cctttttgtt
     1321 tttttccttt tcagaatgtt tcttattctc tgaagcatca gcattttgaa gtgtctttta
     1381 tggaagtggg gacagaaatg ggggtaaaaa tgagtgtaaa caaagcctag ccctacggtc
     1441 agtacccact ggaggtgaga agcagaatgg ccttggttgt cctggcacct ggcccagggg
     1501 cctaggacag aggtcaaggc taggcccctg tgtctggcca gattctgcct tatagaattc
     1561 aaatctttct tacaagggtt ctggacccgt ttcatttcta gatatatacc taattctcca
     1621 aatcattgtc attgggcctc agtagtaaat cttacctctg aagtcttgct tcagtcgcta
     1681 ttaatattac caagtaataa taacagcaca ggcagagttt atcataatgt tatttttaat
     1741 ttgtcatact ttattatggt tttgtaaggt acatgaaaat gtaattatgt gtgatttgta
     1801 ggtattaaag aacttagcta attgaattta catgaaacta aataaaatct ttactactga
     1861 gccccaaata tgtatttgct atgcctgtct gtataatgta cttcatatag tttaaaatgc
     1921 acttcagtga tacaaaatcc cttttaaaga ctcttttgtt tttgttttcc ctgtgtattt
     1981 tggctatcac aaaactaggg ttcttctgtt tttaacttat gcatttaatg acacattgcc
     2041 atcttttaga attttttact attcaacaga ataagctgat gtttggtggc agaggagtta
     2101 ttagttgcgt gaactgtcaa gagattgcag tgcaggaggg caacagaaac tgtacaaggt
     2161 gcagacttga gtcatgtaag atctatgtga atgaaccaaa gtaactagag tcagtcaagc
     2221 acaaagctgt gaaaagtagt gtgtggaaag aatcatactg aattttagga acaagtacct
     2281 gactatgata ctttttacag agtgactaca agttgtagga cagtctttgt gtgtgctgag
     2341 tgtcaacagc tgcctgccta tgtgttgatg ttttcatcct ttctttgttg aatgagggta
     2401 taaccatcaa aaataaaata cctttcaaat agtccaaa
//
