LOCUS       NM_001329752            2107 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens family with sequence similarity 136 member A
            (FAM136A), transcript variant 2, mRNA.
ACCESSION   NM_001329752
VERSION     NM_001329752.2
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 2107)
  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 2107)
  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   3  (bases 1 to 2107)
  AUTHORS   Zhao,L., Ge,C., Zhang,Z., Hu,H., Zhang,Y., Zhao,W., Li,R., Zeng,B.,
            Song,X. and Li,G.
  TITLE     FAM136A immunoreactivity is associated with nodal involvement and
            survival in lung adenocarcinoma in a Chinese case series
  JOURNAL   Bioengineered 11 (1), 261-271 (2020)
   PUBMED   32098576
  REMARK    GeneRIF: FAM136A immunoreactivity is associated with nodal
            involvement and survival in lung adenocarcinoma in a Chinese case
            series.
REFERENCE   4  (bases 1 to 2107)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 2107)
  AUTHORS   Frejo,L., Giegling,I., Teggi,R., Lopez-Escamez,J.A. and Rujescu,D.
  TITLE     Genetics of vestibular disorders: pathophysiological insights
  JOURNAL   J Neurol 263 Suppl 1, S45-S53 (2016)
   PUBMED   27083884
  REMARK    GeneRIF: This study showed that FAM136A genes have been identified
            in familial Meniere's disease.
            Review article
REFERENCE   6  (bases 1 to 2107)
  AUTHORS   Requena,T., Cabrera,S., Martin-Sierra,C., Price,S.D., Lysakowski,A.
            and Lopez-Escamez,J.A.
  TITLE     Identification of two novel mutations in FAM136A and DTNA genes in
            autosomal-dominant familial Meniere's disease
  JOURNAL   Hum Mol Genet 24 (4), 1119-1126 (2015)
   PUBMED   25305078
  REMARK    GeneRIF: our findings suggest that novel mutations in FAM136A and
            DTNA genes are probably causal variants in FMD.
REFERENCE   7  (bases 1 to 2107)
  AUTHORS   Wang,A.G., Yoon,S.Y., Oh,J.H., Jeon,Y.J., Kim,M., Kim,J.M.,
            Byun,S.S., Yang,J.O., Kim,J.H., Kim,D.G., Yeom,Y.I., Yoo,H.S.,
            Kim,Y.S. and Kim,N.S.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC022201.4, BU186527.1,
            CB108776.1, AK225151.1 and BC026293.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001329752.1.
            
            Summary: This gene encodes a mitochondrially localized protein that
            is highly conserved across species. The gene is expressed in a
            variety of tissues including human lymphoblast cells and rat
            neurosensorial epithelium of the cristaampullaris. A mutation in
            this gene has been associated with familial Meniere's disease, a
            chronic disorder of the inner ear. Several pseudogenes of this gene
            are found on other chromosomes. Alternative splicing results in
            multiple transcript variants. [provided by RefSeq, Aug 2016].
            
            ##Evidence-Data-START##
            Transcript exon combination :: BU186527.1, SRR9304717.382096.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142853, SAMEA2148874
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: PMID: 25305078; reported by
                                                  MitoCarta
            MANE Ensembl match                 :: ENST00000430566.6/
                                                  ENSP00000397269.1
            RefSeq Select criteria             :: based on conservation,
                                                  longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-22                AC022201.4         8161-8182           c
            23-669              BU186527.1         1-647
            670-836             CB108776.1         401-567
            837-1476            AK225151.1         505-1144
            1477-2107           BC026293.1         1737-2367
FEATURES             Location/Qualifiers
     source          1..2107
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p13.3"
     gene            1..2107
                     /gene="FAM136A"
                     /note="family with sequence similarity 136 member A"
                     /db_xref="GeneID:84908"
                     /db_xref="HGNC:HGNC:25911"
                     /db_xref="MIM:616275"
     exon            1..464
                     /gene="FAM136A"
                     /inference="alignment:Splign:2.1.0"
     CDS             57..794
                     /gene="FAM136A"
                     /note="isoform 2 is encoded by transcript variant 2;
                     protein FAM136A"
                     /codon_start=1
                     /product="protein FAM136A isoform 2"
                     /protein_id="NP_001316681.1"
                     /db_xref="CCDS:CCDS86849.1"
                     /db_xref="GeneID:84908"
                     /db_xref="HGNC:HGNC:25911"
                     /db_xref="MIM:616275"
                     /translation="MAELQQLRVQEAVESMVKSLERENIRKMQVAGLGPNQDPLLSGW
                     VPGPSLSHHATPCTAAASPQTGCGRPWGRRGGLGQDFGSFGGSDEIRVPLPCARLFSA
                     PSSPGQERPRRQVGSPWWQALAPPPSPLTRPLPQGLMFRCSASCCEDSQASMKQVHQC
                     IERCHVPLAQAQALVTSELEKFQDRLARCTMHCNDKAKDSIDAGSKELQVKQQLDSCV
                     TKCVDDHMHLIPTMTKKMKEALLSIGK"
     exon            465..605
                     /gene="FAM136A"
                     /inference="alignment:Splign:2.1.0"
     exon            606..2107
                     /gene="FAM136A"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2081..2086
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAM136A"
                     /note="hexamer: AATAAA"
     polyA_site      2107
                     /gene="FAM136A"
                     /note="major polyA site"
ORIGIN      
        1 acgccgattc catatgggcg ccggcgcgga gcgccgcggg gcagcgcggg gtcgccatgg
       61 ctgagctgca gcagctccgg gtgcaggagg cggtggagtc catggtgaag agtctggaaa
      121 gagagaacat ccggaagatg caggtagcgg ggctggggcc gaaccaggac ccccttctca
      181 gcgggtgggt tccgggccct tccctcagcc accacgcgac gccttgcact gcagccgcgt
      241 ccccgcagac cgggtgtggg cggccctggg gtcgccgggg cggcctcgga caggacttcg
      301 gaagctttgg cggatcggat gaaatccgtg tgcccttgcc gtgcgcgagg ctgttttccg
      361 ccccttccag cccggggcag gagcgtcctc ggcggcaggt gggaagcccc tggtggcagg
      421 cgctcgcccc accaccttcc cctcttacgc ggccccttcc gcagggtctc atgttccggt
      481 gcagcgccag ctgttgtgag gacagccagg cctccatgaa gcaggtgcac cagtgcatcg
      541 agcgctgcca tgtgcctctg gctcaagccc aggctttggt caccagtgag ctggagaagt
      601 tccaggaccg cctggcccgg tgcaccatgc attgcaacga caaagccaaa gattcaatag
      661 atgctgggag taaggagctt caggtgaagc agcagctgga cagttgtgtg accaagtgtg
      721 tggatgacca catgcacctc atcccaacta tgaccaagaa gatgaaggag gctctcttat
      781 caattggaaa ataaaagtat ttgccagtgg ccatcagggc tgagggcaag aatatatttt
      841 ttataaggaa ttgggaattt tagtctttta agcaaagttt acgaatgaag aaatgaagga
      901 tggccacaag cgtaaggcat atgtcacttg cctctggaca ctggttattt tatgtttcag
      961 tccctaaaaa atgaaatgga aaaaagtggt gctaaatcga gtcagagata ttacaggaga
     1021 gttttagagc ttattatttc ctgtggccag tgcttgtcct ggcagtaagg ctttcccctg
     1081 taacaagcca gagccctcca aggtaccaga ctcttcttac tacacaggta ctaacaggct
     1141 ggcaggttag agttggtgga gtctgaggag agatattttc tctttgttgc caacatcctg
     1201 tttaccaaaa gtgtcacccc accatcttcc ataagctgtg aaacaaaatc aatgaggtca
     1261 ctaacttaga agggaaagaa agttttctgg gtctttgttt tcttgatttg gggtaattta
     1321 tacaagggca tacaagttga ttttaagatg tggaactggg aggtagacta gtttggataa
     1381 gaactttgaa atgttccttg tggatcccca tttctggtca tcaagatgtg gatgtacatt
     1441 tcttaaaatt attacatgct gcatctttca gcctggagac tgtgcagaaa catgagaggt
     1501 gatgacacac taattatggg aagcagaatt actggctgat ggcccctgag gctgtgtgta
     1561 acaaaatgac aggacaatct tgcagtaaca ctttcccctt gaagagaagg gggttttgat
     1621 tgtgatatat actagtatct aggaatgaac agtaaaagag gagcagttgg ctacttgatt
     1681 acaacagagt aaatgaagta ctggatttgg gaaaacctgg ttttattaga acatatggaa
     1741 tgaaagccta cacctagcat tgcctactta gccccctgaa ttaacagagc ccaattgaga
     1801 caaacccctg gcaacaggaa attcaaggga gaaaaagtaa gcaacttggg ctaggatgag
     1861 ctgactccct tagagcaaag gagagacagc ccccattacc aaataccatt tttgcctggg
     1921 gcttgtgcag ctggcagtgt tcctgcccca gcatggcacc ttattgtttt gatagcaact
     1981 tcgttgaatt ttcaccaact tattacttga aattataata tagcctgtcc gtttgctgtt
     2041 tccaggctgt gatatatttt cctagtggtt tgactttaaa aataaataag gtttaatttt
     2101 ctcccca
//
