LOCUS       NM_001142311            3322 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens transmembrane protein 169 (TMEM169), transcript
            variant 2, mRNA.
ACCESSION   NM_001142311
VERSION     NM_001142311.2
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 3322)
  AUTHORS   Hersh,C.P., Pillai,S.G., Zhu,G., Lomas,D.A., Bakke,P., Gulsvik,A.,
            DeMeo,D.L., Klanderman,B.J., Lazarus,R., Litonjua,A.A., Sparrow,D.,
            Reilly,J.J., Agusti,A., Calverley,P.M., Donner,C.F., Levy,R.D.,
            Make,B.J., Pare,P.D., Rennard,S.I., Vestbo,J., Wouters,E.F.,
            Scholand,M.B., Coon,H., Hoidal,J. and Silverman,E.K.
  TITLE     Multistudy fine mapping of chromosome 2q identifies XRCC5 as a
            chronic obstructive pulmonary disease susceptibility gene
  JOURNAL   Am J Respir Crit Care Med 182 (5), 605-613 (2010)
   PUBMED   20463177
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC008604.1, AK091582.1 and AW291087.1.
            
            On Nov 23, 2018 this sequence version replaced NM_001142311.1.
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. All variants (1-4) encode the same protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: DB146976.1, SRR3476690.430119.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000437356.7/ ENSP00000401305.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1597              BC008604.1         6-1602
            1598-3176           AK091582.1         1594-3172
            3177-3322           AW291087.1         17-162              c
FEATURES             Location/Qualifiers
     source          1..3322
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q35"
     gene            1..3322
                     /gene="TMEM169"
                     /note="transmembrane protein 169"
                     /db_xref="GeneID:92691"
                     /db_xref="HGNC:HGNC:25130"
     exon            1..61
                     /gene="TMEM169"
                     /inference="alignment:Splign:2.1.0"
     exon            62..458
                     /gene="TMEM169"
                     /inference="alignment:Splign:2.1.0"
     CDS             188..1081
                     /gene="TMEM169"
                     /codon_start=1
                     /product="transmembrane protein 169"
                     /protein_id="NP_001135783.1"
                     /db_xref="CCDS:CCDS2401.1"
                     /db_xref="GeneID:92691"
                     /db_xref="HGNC:HGNC:25130"
                     /translation="MEEPTAVEGQVQLPSPHQGSLRKAVAAALALDGESTMGHRKKKR
                     KESRPESIIIYRSDNEKTDEEPGESEGGDQPKEEEGDDFLDYPVDDDMWNLPLDSRYV
                     TLTGTITRGKKKGQMVDIHVTLTEKELQELTKPKESSRETTPEGRMACQMGADRGPHV
                     VLWTLICLPVVFILSFVVSFYYGTITWYNIFLVYNEERTFWHKISYCPCLVLFYPVLI
                     MAMASSLGLYAAVVQLSWSWEAWWQAARDMEKGFCGWLCSKLGLEDCSPYSIVELLES
                     DNISSTLSNKDPIQEVETSTV"
     exon            459..3322
                     /gene="TMEM169"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3291..3296
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM169"
                     /note="hexamer: AATAAA"
     regulatory      3297..3302
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM169"
                     /note="hexamer: AATAAA"
     polyA_site      3312
                     /gene="TMEM169"
                     /note="major polyA site"
     polyA_site      3322
                     /gene="TMEM169"
                     /note="major polyA site"
ORIGIN      
        1 agaaccgctc cccgccggct gtccgcaacc tccgccagcg tcggtccctg ggcaggtgtg
       61 ggtggaatgc atccttggga catctttgca tagccccatc taggaagaag ttctgtgatg
      121 tgtgaactgt gagtttactc aaacaagtcc aactctttat aagacatagg tagacgtcag
      181 gtctggaatg gaagagccaa cagcagtaga aggccaggtc cagcttccaa gcccccacca
      241 gggctctctc aggaaggctg tggctgctgc cctggcgctg gatggggaat ccacaatggg
      301 gcacaggaaa aagaagagga aagagtcacg cccagaatcc atcatcatct accgctcaga
      361 caatgagaaa acagatgagg agcccggaga atcagaaggt ggagatcagc ctaaagagga
      421 ggagggagat gatttcctag actatcctgt ggatgatgat atgtggaacc tgcctctgga
      481 cagccgctac gtcaccttaa ctgggaccat cacacgaggg aagaaaaagg gtcagatggt
      541 ggacatccat gtcacattga cagagaaaga gctgcaggaa ctgaccaaac ctaaagagtc
      601 atcaagggaa acgacgcctg aaggaagaat ggcctgccag atgggagctg accgtgggcc
      661 ccatgtggtc ctctggacgc tgatctgcct gcctgtggtt ttcatccttt cttttgttgt
      721 ctctttctac tacggcacta tcacctggta caacatcttc ctcgtgtata atgaggaaag
      781 gaccttctgg cacaagatct cgtattgccc ttgcctcgtt ctcttctatc cagtgctcat
      841 catggccatg gcttcttccc tcggcctcta cgctgctgtg gtccagctct cgtggtcctg
      901 ggaagcatgg tggcaagctg cccgggacat ggagaaaggc ttctgtggct ggctctgcag
      961 caagctgggt ctggaggact gttctcccta cagcattgtg gagttgcttg aatccgacaa
     1021 tatctcaagc actctctcca acaaggaccc catccaagaa gtagaaacct ccacggtcta
     1081 aactcccaac aacttactcc ctcctctggc cccagtagcc tatatatcat cttaaaattc
     1141 cagcagatta tttctttaaa ttacccccta ctctccgcag ttcttctggg aaatcagagt
     1201 ccatactgat cagttttacc atcttgaggg ttccaggagg gcatggagca gacaagcaat
     1261 tgtgccaaag cagttcaccc aatggacaaa ctctttttga ttccctgccc taaaatcacc
     1321 atttatttag gacaatggaa ctctgctgtg tgtcgttttg ggagcctgga agtgttactg
     1381 gtgcctggaa ctgaggggag tatgtgacta aatgtgtcag ggagaataaa gaacctcggg
     1441 gtaaccaaat ccaccaagat aatagacagg gatggagtga gacatttagg aagctggact
     1501 accacagtgt agcagaaggt aaagatttgt gtgtatcatt tagatttaga tttagctgca
     1561 tagaattaaa accctaaaat atcagtggct taaacaagat agaagtgtat ttctttcttg
     1621 tgcagaagaa gtctggaggc agaccatcct gggaccctgt gaagtaatcc aggtcccagg
     1681 cttcttctat ttctctacca ttagtaggat gtgacccttc tcacccttat ccccaacatc
     1741 ccagtgctga ttacatcttc agccatcaca tccatgtttc tgataaaata gaggaaaggg
     1801 cagagaagca cacacccttc ctgttcaagg agacttccca gaagtcccac tcgattcttc
     1861 ttatatctca ttggcaagac ctcagtcaca tgatgtcatg agcaaaagag gctggaaatg
     1921 tagttgtttg gctgggtagc tatattctca gctaaatact gggttcacgc taattggcaa
     1981 gaaaaaggaa gaatggttat ttgggttttg ttttgttttg ttttgtttcg ctttagagac
     2041 ggagtctcac tctgttgccg aggctggagt gcagtggcac tatctcggct cactgcaacc
     2101 ttcgcctcct gggttcaagc aattcttgtg ccttggcctc cccagtagct gggattacag
     2161 gtgcgtgcca ccatacccgg ctaatttttg tatttttttt ttagtagaga tggggtttca
     2221 ccatgtgccc aggctggtct tgaactcctg acctcaggtg atccgcctgc ctcggcctcc
     2281 caaaatgctg ggattgtagg caagaatggt tatcttggta ggcaagtcag aatctttgcc
     2341 tcacaatgat catttaaata cattcagaac ccccaaactg ctaatatggt tttatttatt
     2401 tatttattca ttcatttgtt tattcattta tttatttagg cctgaatctt acacagagaa
     2461 tttatatata gatattagct acatatactt tgaatatgct atacatcgat attagcacct
     2521 cacgtacttt gcaattaagc ttctgtaatg tcatgtgatt tgtttttgga aaggaatagt
     2581 ggacaggaga gtacaattta taatagtagc ataactcttt gtcctggtgg tggaggtggg
     2641 acgaggtggt gatatttaac ctagattaaa gaccaggaag ggaggaattg catctgccaa
     2701 agtttcctcc aacagcgatc agtagcccta agtacaaaga agccagattt agccttctgt
     2761 tgtttggcaa aacctcactc agagctttac tccctcagac ctttctgagt ttaaccacag
     2821 acatgatctt tgctgtgctg agaaacttgt gtctacctgg cctgtaggga gtgtaaacta
     2881 gattaataca gattaacaga ctctgaactt aaaaaaaaaa atcactccta agggtgtcct
     2941 tctaatttca aaatatcaac tcctaagagg tcagcagaat ttggagattt gggtccttat
     3001 aagaatagct ggtgctcttt tcttgttcat gtctcaaaac aaagctgttg agagaactgc
     3061 tgcgatgaat caaaccagag gagtttgtca tgctccccac agagagccca ggacatttgc
     3121 ctgatgtatg gtgctgagct ccaccttcag aggaactctc tctttttttt ttttttaaat
     3181 aactattatt agcttgacaa gaaaaaaaaa gtgcccaaca gttttagtgt taatcttggt
     3241 gctctatggt gcattagcag agatatgaac aattaaatga agacaaagaa aataaaaata
     3301 aagtctgatt aacttttgct ca
//
