LOCUS       NM_001395294            6042 bp    mRNA    linear   PRI 13-FEB-2025
DEFINITION  Homo sapiens family with sequence similarity 149 member A
            (FAM149A), transcript variant 6, mRNA.
ACCESSION   NM_001395294
VERSION     NM_001395294.1
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 6042)
  AUTHORS   Zhang,J., Dai,Y., Wu,D., Li,Y. and Xu,J.
  TITLE     Whole exome sequencing identified FAM149A as a plausible causative
            gene for congenital hereditary endothelial dystrophy, affecting
            Nrf2-Antioxidant signaling upon oxidative stress
  JOURNAL   Free Radic Biol Med 173, 117-124 (2021)
   PUBMED   34303830
  REMARK    GeneRIF: Whole exome sequencing identified FAM149A as a plausible
            causative gene for congenital hereditary endothelial dystrophy,
            affecting Nrf2-Antioxidant signaling upon oxidative stress.
REFERENCE   2  (bases 1 to 6042)
  AUTHORS   MacInnis,M.J., Widmer,N., Timulsina,U., Subedi,A., Siwakoti,A.,
            Pandit,B.P., Freeman,M.G., Carter,E.A., Manokhina,I., Thapa,G.B.
            and Koehle,M.S.
  TITLE     A Preliminary Genome-Wide Association Study of Acute Mountain
            Sickness Susceptibility in a Group of Nepalese Pilgrims Ascending
            to 4380 m
  JOURNAL   High Alt Med Biol 16 (4), 290-297 (2015)
   PUBMED   26600424
  REMARK    GeneRIF: In total, 270,389 single nucleotide polymorphisms passed
            quality control, and 4 SNPs in the FAM149A gene were associated
            with Acute Mountain Sickness; however, in the validation cohorts,
            FAM149A was not associated with the presence or severity of AMS.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC104070.3 and AC110771.3.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074967.2039455.1,
                                           SRR14372080.757789.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000706927.1/ ENSP00000516649.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-939               AC104070.3         92827-93765
            940-1050            AC110771.3         16005-16115
            1051-1189           AC110771.3         16398-16536
            1190-1332           AC110771.3         18735-18877
            1333-1458           AC110771.3         20477-20602
            1459-1629           AC110771.3         21300-21470
            1630-1820           AC110771.3         22832-23022
            1821-1975           AC110771.3         24397-24551
            1976-2079           AC110771.3         29677-29780
            2080-2289           AC110771.3         30256-30465
            2290-2410           AC110771.3         32176-32296
            2411-2539           AC110771.3         33800-33928
            2540-2618           AC110771.3         34016-34094
            2619-6042           AC110771.3         38746-42169
FEATURES             Location/Qualifiers
     source          1..6042
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q35.1"
     gene            1..6042
                     /gene="FAM149A"
                     /gene_synonym="MST119; MSTP119"
                     /note="family with sequence similarity 149 member A"
                     /db_xref="GeneID:25854"
                     /db_xref="HGNC:HGNC:24527"
     exon            1..939
                     /gene="FAM149A"
                     /gene_synonym="MST119; MSTP119"
                     /inference="alignment:Splign:2.1.0"
     CDS             374..2692
                     /gene="FAM149A"
                     /gene_synonym="MST119; MSTP119"
                     /note="isoform 4 is encoded by transcript variant 6;
                     protein FAM149A"
                     /codon_start=1
                     /product="protein FAM149A isoform 4"
                     /protein_id="NP_001382223.1"
                     /db_xref="GeneID:25854"
                     /db_xref="HGNC:HGNC:24527"
                     /translation="MKAAVLDLGSLLAKLFETSTAPPAGPSSRPSGGAAAAGSGGSRA
                     GTPLGTAPTLLRALAPDSPSASRRSPAPLLSSPYSRGSAASRAAGAVGTLLSWPSSPR
                     AGKAPPQPPTPSGGGCSPARLVVPARPPSGPGGVWAALPRNPLQPGPGERELGACVAP
                     GAGPRTLFLTLPDIGEEGASDGDSGDGEARGLSEGRRRHGFTVRSKDSLPTHFTRNVQ
                     KAIDKYTCKSLSSFSSSGSHTPTGAHTSWSGSATQSSTTGSSTERGSVYSWRDDEFDE
                     ASSQSVQRLLWEVEEMLFEGKVNPQTQSLLAECGEWTRRSLHLRVLGRQLILPTDKGV
                     QHFQGSTPASAVHRPPLSACGHSSNIRELCISGSQIVPAALSASALPGPDDTGVADLT
                     ARSSLEEEVYHVDGKIEEYFAFDRKEDDDECLEQKPAQPGRKWRKLGLPPVSPRDCVK
                     DAVAAEVFDHVWTNMVELLEELIRKHWETTLTEGKKQRETLKVAGNRFPHVLVPHAHA
                     DGASGPPSGHAEAHGISLASRLNPPQIHHFSSSFYSDMNGVMTIQAKPLQRRPAYFAD
                     RTQNEKEDKASGGGAGALSSAPHRLGRASDTHGLSPSAKKTPVPWRLPSLASDSQRLK
                     TPNIYSDEVLRGTKLPTGVDHMASPLVQTSRSRFPPLVTETRGQNTAVPGCRLVSYRG
                     RHLQNRVLSAMPDGTERSRLRERTATLERLSRPSTTHTFRSDTPRKSSLTQMEFAAHT
                     WTGQSILTGSQYVPKSFQRTTLTFKRRFQVTS"
     exon            940..1050
                     /gene="FAM149A"
                     /gene_synonym="MST119; MSTP119"
                     /inference="alignment:Splign:2.1.0"
     exon            1051..1189
                     /gene="FAM149A"
                     /gene_synonym="MST119; MSTP119"
                     /inference="alignment:Splign:2.1.0"
     exon            1190..1332
                     /gene="FAM149A"
                     /gene_synonym="MST119; MSTP119"
                     /inference="alignment:Splign:2.1.0"
     exon            1333..1458
                     /gene="FAM149A"
                     /gene_synonym="MST119; MSTP119"
                     /inference="alignment:Splign:2.1.0"
     exon            1459..1629
                     /gene="FAM149A"
                     /gene_synonym="MST119; MSTP119"
                     /inference="alignment:Splign:2.1.0"
     exon            1630..1820
                     /gene="FAM149A"
                     /gene_synonym="MST119; MSTP119"
                     /inference="alignment:Splign:2.1.0"
     exon            1821..1975
                     /gene="FAM149A"
                     /gene_synonym="MST119; MSTP119"
                     /inference="alignment:Splign:2.1.0"
     exon            1976..2079
                     /gene="FAM149A"
                     /gene_synonym="MST119; MSTP119"
                     /inference="alignment:Splign:2.1.0"
     exon            2080..2289
                     /gene="FAM149A"
                     /gene_synonym="MST119; MSTP119"
                     /inference="alignment:Splign:2.1.0"
     exon            2290..2410
                     /gene="FAM149A"
                     /gene_synonym="MST119; MSTP119"
                     /inference="alignment:Splign:2.1.0"
     exon            2411..2539
                     /gene="FAM149A"
                     /gene_synonym="MST119; MSTP119"
                     /inference="alignment:Splign:2.1.0"
     exon            2540..2618
                     /gene="FAM149A"
                     /gene_synonym="MST119; MSTP119"
                     /inference="alignment:Splign:2.1.0"
     exon            2619..6042
                     /gene="FAM149A"
                     /gene_synonym="MST119; MSTP119"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2827..2832
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAM149A"
                     /gene_synonym="MST119; MSTP119"
                     /note="hexamer: AATAAA"
     polyA_site      2847
                     /gene="FAM149A"
                     /gene_synonym="MST119; MSTP119"
                     /note="major polyA site"
     regulatory      3348..3353
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAM149A"
                     /gene_synonym="MST119; MSTP119"
                     /note="hexamer: TATAAA"
     polyA_site      3368
                     /gene="FAM149A"
                     /gene_synonym="MST119; MSTP119"
     regulatory      3868..3873
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAM149A"
                     /gene_synonym="MST119; MSTP119"
                     /note="hexamer: AATAAA"
     polyA_site      3887
                     /gene="FAM149A"
                     /gene_synonym="MST119; MSTP119"
     regulatory      5978..5983
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAM149A"
                     /gene_synonym="MST119; MSTP119"
                     /note="hexamer: TATAAA"
     polyA_site      5995
                     /gene="FAM149A"
                     /gene_synonym="MST119; MSTP119"
     regulatory      6018..6023
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAM149A"
                     /gene_synonym="MST119; MSTP119"
                     /note="hexamer: TATAAA"
     polyA_site      6042
                     /gene="FAM149A"
                     /gene_synonym="MST119; MSTP119"
ORIGIN      
        1 agcctggagc gcggccgggt gtgttgaacg tagcaaccgc gggcggcggg cggcgggcgg
       61 cgggcgtctg gggcgggcgg cggccgcgct tcccggggct cctggccctt cggccctcgg
      121 gggtctcacg gcgctgggac gaggcggggc tgctctccgc agccggggcg ctcggcggac
      181 ggacccgggc cggggaaggg cgaccccagc ggcgcggagc tgagcgtcct cggggaggag
      241 agggagccag gggcctccgg ggctccgggt gcggggacct caggctcctc gccccggccc
      301 gggccgcctc ggccggatct ccgcggtctg aactctcggg cggcggcgag gacggcgtgt
      361 ccactgtcga ggcatgaagg ctgctgtgct ggaccttggg tctctcttgg ccaaactctt
      421 cgagacctcg acggcgcccc ccgcaggccc ctcctccaga ccctcgggag gtgctgccgc
      481 tgcagggtcg gggggctcca gggcgggcac cccgttgggt accgccccga ccctcctccg
      541 cgccctggct ccggactccc cctccgcctc gcggcggtcg cccgccccgc tgctctcctc
      601 cccctactcc cggggctccg ccgccagccg cgccgcggga gcagtgggga ccctgctctc
      661 ttggcccagt agccctagag cgggtaaagc cccgccccag ccccccactc cctccggcgg
      721 gggctgctcc cctgctcgcc tggtggtccc agcgcggccg ccctcgggcc ccggcggggt
      781 ctgggccgcg ctccccagga acccgctcca gcctggcccc ggagagcgag agctcggcgc
      841 ctgcgtggcc cccggggctg gccccagaac cctgttcctt acgctgcctg acatcggcga
      901 ggagggggcc tcggacggcg actccgggga tggcgaagca agaggactgt cagaaggacg
      961 tagaaggcac ggttttactg tgaggagcaa agattcttta cctacgcatt ttacaagaaa
     1021 tgtgcagaaa gccattgata aatatacctg caaatccttg tcatcctttt cctccagcgg
     1081 aagccataca cccacgggag cccacacctc ttggtctggg tcggccacac agagctctac
     1141 caccggctca tccacggaga ggggctccgt ttattcctgg agagatgacg aatttgacga
     1201 agccagttca cagtcagtgc agcggttact ctgggaggtg gaggaaatgt tatttgaagg
     1261 gaaagtgaac cctcagaccc agagtctgct ggccgaatgc ggggagtgga caagaagatc
     1321 cctccatttg agagtattag gaagacagct gatcctgccc actgacaaag gcgtccagca
     1381 tttccagggc agcactcctg cctccgcagt ccacagaccc ccgctcagtg cctgcggaca
     1441 cagcagcaac atcagagagt tgtgcatttc tggctctcaa atagtcccag cagcactctc
     1501 agcctctgcc ctgccaggcc ctgatgacac aggggttgct gacctaacgg cacgttcatc
     1561 cctggaagaa gaggtttacc atgtggatgg aaagattgag gagtatttcg cttttgacag
     1621 aaaagaggat gatgatgaat gtcttgaaca aaaaccagct cagcccggta ggaaatggcg
     1681 caaactcgga cttcctcctg tttccccgcg tgactgtgtc aaagatgccg tggcagcaga
     1741 agtgtttgat cacgtctgga caaatatggt agaacttttg gaagagctga ttagaaaaca
     1801 ctgggaaact acactcacag aagggaaaaa acagagagaa acattgaaag tggctggaaa
     1861 cagatttccg cacgtcctcg ttccacacgc tcacgccgat ggagccagtg gccccccgtc
     1921 cggacacgcc gaggctcacg gcatctccct ggcttctcgt ctgaacccgc cccagattca
     1981 tcacttctcc agcagttttt atagtgacat gaatggtgtc atgacaattc aagcaaaacc
     2041 gcttcagcgg agacctgcct attttgctga cagaacgcag aatgagaagg aggacaaagc
     2101 atcgggtgga ggggcaggtg ctctctcctc cgcaccgcac agactgggac gggcctcaga
     2161 cactcatgga ttatcacctt ctgcaaagaa aacaccagtg ccctggaggc tgccttctct
     2221 tgcttcagat tcacagagac taaaaactcc caacatctat agtgacgaag ttcttcgggg
     2281 aacaaaactg ccgactggcg tggaccacat ggcttcccca ctggttcaaa cgtcacggag
     2341 caggttcccc ccgctagtca cggagaccag ggggcagaat acagcagttc ctggatgccg
     2401 ccttgtttct tacagaggaa ggcatctaca aaaccgtgtg ttgagtgcca tgcctgacgg
     2461 tacagaacga tcgcgtcttc gagaaagaac agccaccctg gaacggttgt caaggcccag
     2521 cacaacccac acgttccggt cggatacgcc tcgaaaaagt tcattgacac aaatggaatt
     2581 tgctgctcac acatggacag gtcaaagtat tttgacaggt tcacaatatg tgcctaaatc
     2641 ttttcagagg acaactttga ctttcaagag gagattccaa gtgacatctt gaaaccacct
     2701 caccagaacc attggagcac ctgtggcctc ggcacactgc ttatcacttg aaaaatggag
     2761 gaacaagtgt tatatttatc tgtgtgtctg acagtgtgag atgttagacc gagagaaaag
     2821 caaacaaata aatcacttaa tcttgaacac tttgcactgt aaagagagtg aaagtcaaac
     2881 ccaccaagct gccttgctga aagcatctcc aaggttctgt aggctttgtt cagaagcccc
     2941 tgatgtgtgt ttgcagtccg tcattttatc aatgatacgc aaacataatt agcatgtgta
     3001 tgtactcaca cactaattac atgtaagaat atattatcta ggaatatgtc atttgtaact
     3061 ttgtactctg acgtattttc tagtctcacc ctattagtaa ttctgtcaaa atcctagacg
     3121 ctagtagata ttagtatttg agacaatatg tcagagtctg aataagactc agcttgttct
     3181 agtcatgctg agtttctcat atatttttta aaagtgcttc cgccatgaac ctctttgaga
     3241 aatgtcagtg gcaaaatctc ccaagctaat tttctttttc tatgttccat cttcaaattc
     3301 agacagttca cgtgaagtac cccacattta ttgatcttag ggttgaatat aaacgcaatt
     3361 aaaagctatg gcaggtgatg tcatctttat tgtttacagt cgaagctcct ccatgggagg
     3421 ggagcctccc accctccacg tgccatcagg agctggcctt tgcccagacg ccaccactgc
     3481 aatgacacct tcccagagcc ctcgtctcct cgcgctctgt cctgctctgc ctggcttttc
     3541 ttcagagtgt gtttccccat ctgacattac tgtagaaaat ggagcagaga acaggaaggg
     3601 gaattagcag agatgaggct ccaggcatgt cttcctcttg tccctctccc cactgtttct
     3661 cttgattgtg attcaagtcc ttacactcat ttttacattc tcaaatctca aatcagctaa
     3721 tttcctcttt tctatcagat aattgcattt catcagtcta atttttacta atccaaactg
     3781 taactttata aggctatata tatgagcata tttataaact tagatttata aactatatac
     3841 acacatatat gtatcatata aatgcataat aaattacttt cagactattt ctggctgtaa
     3901 ggagaaggga tcattgccta ctagtagatg tctgaaattt taaaagatgt gttgagacta
     3961 acattaatgt tgtcctttat cacagggtga caaaaatgac ccagagcctt gcctctgttt
     4021 gaaaatttct ccttgacttt gctgactcca tttctttttt cttttctttt tttttgaaac
     4081 ggagtctggc tctgtggccc cggctggagt gcagtggcac gatctcggct cactacaacc
     4141 tccacctcct gggctcaagc gattctcctg cttcagcctc ctgggtagct aggattacag
     4201 gtgcatgcca ccacacccag ctaaattttt tttgtatttt tagtagaggc agggtttcac
     4261 catgttagcc aggccggtgt tgaactcctg acctcaggtg atctgcccac ctcggcctcc
     4321 caaagtgctg ggattatagg cgtgagcttc cgcgcctggc cagctgactc catttctata
     4381 gcaatgagac acattaggca gcagcagcag cagcagcagc agcgaccacc aggtccatgc
     4441 ctcttttccg tggtcacagc tccatgtgtc cggggaagat tgctaatgct tagtttcctg
     4501 cacaaagcaa accaaagcat ttttgagaat tttctacatt attcctaaac attagcaata
     4561 gaaactttta agagcaaatg ccagtcttaa ttcagcagct ctcccacttg aggaatagtt
     4621 agatatgtga gtagcctgga gcccatgtta tagggctgct ggttaggtgc tctctggtgc
     4681 atcattactg ctcaaagcat gacccacttg ctctttcaga tccactcagg gtattttatg
     4741 tccatttcca ggaaccatcc aactccttcc ctattcagtc caaacttcct tttttttttt
     4801 ttttacttga agttcagggg tacatgtgca ggttgttaca taggtaaact tgtgtcgtgg
     4861 gagtttgttg tacagattat cacccaggta ttaagcctag tatccattag ttatttttcc
     4921 tgatcctctc cctccttcca ccctccaccc tttgataggc cctagtgtgt gctgttcccc
     4981 tctgtgtcca tgtgttctca tcatttagct cccacttaga agtgagaacg gatggcattt
     5041 gtttttctgt ttctgcatta gtttgctaag gataatgact tccagctcca gccatgcctc
     5101 tgcaaaggac ataatctcat tcttttttat gagctcaagc ttcgtagtag ggaaaacacc
     5161 ggatattcag tctaaactaa cattaaggta gggtatccaa gataaaatgt tttttctttg
     5221 aaaaccactg aatatacttt atggtagctt taccttgttt ggctccagag gtttgcaaat
     5281 aagaatctat tatttatata tatatattgg taaaagacaa aatatttttt aaaaagtgat
     5341 cttgagtctt ctaaacatta aattggaaga taaagtgcca ttttagagat tacatagaga
     5401 cttggccctg tcattgattt taaaaatgac cttctcattg cactgatttt tactccatgt
     5461 taaagttagt attttattta tacattaaat tagatttaga gattagtaaa taatgcttat
     5521 atcaaggatg gtgcttttta agctaattag gtaaaaatta gggcagtgtt ttataatcta
     5581 ctttaataaa tgagtcttac cttagaatta atctattaaa aattaaaaaa gaaaaattga
     5641 actacttctg agatagattt ttaaattcag attagtgaat tttacactaa ttgaattaca
     5701 ttaattaaaa tgcctgttag tttatccaaa accaaagaaa gaatgaagaa attttaaaac
     5761 aatctaagaa aatgtaaaat accatagaaa actgctagat tttgtgaatt taatataaaa
     5821 ggaagtatcc atattgatat tattctgaac tagatggaat ttctacacca attcagaagt
     5881 acgtttttat atatcatttg gatattatat tttttattgt tttattataa ctacagatca
     5941 ttgtgtagga tttttgattc cttaatttct aataaaatat aaaagtgtta aaagagtttt
     6001 caaaaatgtg taacatttat aaaagtattt ttagattccc aa
//
