LOCUS       NM_001104544            3350 bp    mRNA    linear   PRI 09-JUN-2024
DEFINITION  Homo sapiens transmembrane protein 255A (TMEM255A), transcript
            variant 2, mRNA.
ACCESSION   NM_001104544
VERSION     NM_001104544.3
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 3350)
  AUTHORS   Majer,F., Kousal,B., Dusek,P., Piherova,L., Reboun,M., Mihalova,R.,
            Gurka,J., Krebsova,A., Vlaskova,H., Dvorakova,L., Krihova,J.,
            Liskova,P., Kmoch,S., Kalina,T., Kubanek,M. and Sikora,J.
  TITLE     Alu-mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4,
            TMEM255A, and ZBTB33 genes causes Danon disease in a female patient
  JOURNAL   Am J Med Genet A 182 (1), 219-223 (2020)
   PUBMED   31729179
REFERENCE   2  (bases 1 to 3350)
  AUTHORS   Ross,M.T., Grafham,D.V., Coffey,A.J., Scherer,S., McLay,K.,
            Muzny,D., Platzer,M., Howell,G.R., Burrows,C., Bird,C.P.,
            Frankish,A., Lovell,F.L., Howe,K.L., Ashurst,J.L., Fulton,R.S.,
            Sudbrak,R., Wen,G., Jones,M.C., Hurles,M.E., Andrews,T.D.,
            Scott,C.E., Searle,S., Ramser,J., Whittaker,A., Deadman,R.,
            Carter,N.P., Hunt,S.E., Chen,R., Cree,A., Gunaratne,P., Havlak,P.,
            Hodgson,A., Metzker,M.L., Richards,S., Scott,G., Steffen,D.,
            Sodergren,E., Wheeler,D.A., Worley,K.C., Ainscough,R.,
            Ambrose,K.D., Ansari-Lari,M.A., Aradhya,S., Ashwell,R.I.,
            Babbage,A.K., Bagguley,C.L., Ballabio,A., Banerjee,R., Barker,G.E.,
            Barlow,K.F., Barrett,I.P., Bates,K.N., Beare,D.M., Beasley,H.,
            Beasley,O., Beck,A., Bethel,G., Blechschmidt,K., Brady,N.,
            Bray-Allen,S., Bridgeman,A.M., Brown,A.J., Brown,M.J., Bonnin,D.,
            Bruford,E.A., Buhay,C., Burch,P., Burford,D., Burgess,J.,
            Burrill,W., Burton,J., Bye,J.M., Carder,C., Carrel,L., Chako,J.,
            Chapman,J.C., Chavez,D., Chen,E., Chen,G., Chen,Y., Chen,Z.,
            Chinault,C., Ciccodicola,A., Clark,S.Y., Clarke,G., Clee,C.M.,
            Clegg,S., Clerc-Blankenburg,K., Clifford,K., Cobley,V., Cole,C.G.,
            Conquer,J.S., Corby,N., Connor,R.E., David,R., Davies,J., Davis,C.,
            Davis,J., Delgado,O., Deshazo,D., Dhami,P., Ding,Y., Dinh,H.,
            Dodsworth,S., Draper,H., Dugan-Rocha,S., Dunham,A., Dunn,M.,
            Durbin,K.J., Dutta,I., Eades,T., Ellwood,M., Emery-Cohen,A.,
            Errington,H., Evans,K.L., Faulkner,L., Francis,F., Frankland,J.,
            Fraser,A.E., Galgoczy,P., Gilbert,J., Gill,R., Glockner,G.,
            Gregory,S.G., Gribble,S., Griffiths,C., Grocock,R., Gu,Y.,
            Gwilliam,R., Hamilton,C., Hart,E.A., Hawes,A., Heath,P.D.,
            Heitmann,K., Hennig,S., Hernandez,J., Hinzmann,B., Ho,S., Hoffs,M.,
            Howden,P.J., Huckle,E.J., Hume,J., Hunt,P.J., Hunt,A.R.,
            Isherwood,J., Jacob,L., Johnson,D., Jones,S., de Jong,P.J.,
            Joseph,S.S., Keenan,S., Kelly,S., Kershaw,J.K., Khan,Z.,
            Kioschis,P., Klages,S., Knights,A.J., Kosiura,A., Kovar-Smith,C.,
            Laird,G.K., Langford,C., Lawlor,S., Leversha,M., Lewis,L., Liu,W.,
            Lloyd,C., Lloyd,D.M., Loulseged,H., Loveland,J.E., Lovell,J.D.,
            Lozado,R., Lu,J., Lyne,R., Ma,J., Maheshwari,M., Matthews,L.H.,
            McDowall,J., McLaren,S., McMurray,A., Meidl,P., Meitinger,T.,
            Milne,S., Miner,G., Mistry,S.L., Morgan,M., Morris,S., Muller,I.,
            Mullikin,J.C., Nguyen,N., Nordsiek,G., Nyakatura,G., O'Dell,C.N.,
            Okwuonu,G., Palmer,S., Pandian,R., Parker,D., Parrish,J.,
            Pasternak,S., Patel,D., Pearce,A.V., Pearson,D.M., Pelan,S.E.,
            Perez,L., Porter,K.M., Ramsey,Y., Reichwald,K., Rhodes,S.,
            Ridler,K.A., Schlessinger,D., Schueler,M.G., Sehra,H.K.,
            Shaw-Smith,C., Shen,H., Sheridan,E.M., Shownkeen,R., Skuce,C.D.,
            Smith,M.L., Sotheran,E.C., Steingruber,H.E., Steward,C.A.,
            Storey,R., Swann,R.M., Swarbreck,D., Tabor,P.E., Taudien,S.,
            Taylor,T., Teague,B., Thomas,K., Thorpe,A., Timms,K., Tracey,A.,
            Trevanion,S., Tromans,A.C., d'Urso,M., Verduzco,D., Villasana,D.,
            Waldron,L., Wall,M., Wang,Q., Warren,J., Warry,G.L., Wei,X.,
            West,A., Whitehead,S.L., Whiteley,M.N., Wilkinson,J.E.,
            Willey,D.L., Williams,G., Williams,L., Williamson,A.,
            Williamson,H., Wilming,L., Woodmansey,R.L., Wray,P.W., Yen,J.,
            Zhang,J., Zhou,J., Zoghbi,H., Zorilla,S., Buck,D., Reinhardt,R.,
            Poustka,A., Rosenthal,A., Lehrach,H., Meindl,A., Minx,P.J.,
            Hillier,L.W., Willard,H.F., Wilson,R.K., Waterston,R.H., Rice,C.M.,
            Vaudin,M., Coulson,A., Nelson,D.L., Weinstock,G., Sulston,J.E.,
            Durbin,R., Hubbard,T., Gibbs,R.A., Beck,S., Rogers,J. and
            Bentley,D.R.
  TITLE     The DNA sequence of the human X chromosome
  JOURNAL   Nature 434 (7031), 325-337 (2005)
   PUBMED   15772651
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL512286.6 and AC002086.1.
            
            On May 20, 2020 this sequence version replaced NM_001104544.2.
            
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon in the mid-coding region, compared to variant 1, resulting in
            a shorter protein (isoform 2), compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK056403.1, SRR11853566.30033.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000371369.9/ ENSP00000360420.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-210               AL512286.6         41630-41839         c
            211-353             AL512286.6         34727-34869         c
            354-416             AL512286.6         24367-24429         c
            417-506             AL512286.6         21629-21718         c
            507-575             AL512286.6         17532-17600         c
            576-664             AL512286.6         15505-15593         c
            665-827             AL512286.6         7263-7425           c
            828-971             AC002086.1         111208-111351       c
            972-3350            AC002086.1         101614-103992       c
FEATURES             Location/Qualifiers
     source          1..3350
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq24"
     gene            1..3350
                     /gene="TMEM255A"
                     /gene_synonym="FAM70A"
                     /note="transmembrane protein 255A"
                     /db_xref="GeneID:55026"
                     /db_xref="HGNC:HGNC:26086"
     exon            1..210
                     /gene="TMEM255A"
                     /gene_synonym="FAM70A"
                     /inference="alignment:Splign:2.1.0"
     CDS             153..1130
                     /gene="TMEM255A"
                     /gene_synonym="FAM70A"
                     /note="isoform 2 is encoded by transcript variant 2;
                     protein FAM70A; family with sequence similarity 70, member
                     A"
                     /codon_start=1
                     /product="transmembrane protein 255A isoform 2"
                     /protein_id="NP_001098014.1"
                     /db_xref="CCDS:CCDS43986.1"
                     /db_xref="GeneID:55026"
                     /db_xref="HGNC:HGNC:26086"
                     /translation="MHQSLTQQRSSDMSLPDSMGAFNRRKRNSIYVTVTLLIVSVLIL
                     TVGLAATTRTQNVTVGGYYPGVILGFGSFLGIIGSNLIENKRQMLVASIVFISFGVIA
                     AFCCAIVDGVFAARHIDLKPLYANRCHYVPKTSQKEAEEVNCPHLSREFCTPRIRGNT
                     CFCCDLYNCGNRVEITGGYYEYIDVSSCQDIIHLYHLLWSATILNIVGLFLGIITAAV
                     LGGFKDMNPTLPALNCSVENTHPTVSYYAHPQVASYNTYYHSPPHLPPYSAYDFQHSG
                     VFPSSPPSGLSDEPQSASPSPSYMWSSSAPPRYSPPYYPPFEKPPPYSP"
     exon            211..353
                     /gene="TMEM255A"
                     /gene_synonym="FAM70A"
                     /inference="alignment:Splign:2.1.0"
     exon            354..416
                     /gene="TMEM255A"
                     /gene_synonym="FAM70A"
                     /inference="alignment:Splign:2.1.0"
     exon            417..506
                     /gene="TMEM255A"
                     /gene_synonym="FAM70A"
                     /inference="alignment:Splign:2.1.0"
     exon            507..575
                     /gene="TMEM255A"
                     /gene_synonym="FAM70A"
                     /inference="alignment:Splign:2.1.0"
     exon            576..664
                     /gene="TMEM255A"
                     /gene_synonym="FAM70A"
                     /inference="alignment:Splign:2.1.0"
     exon            665..827
                     /gene="TMEM255A"
                     /gene_synonym="FAM70A"
                     /inference="alignment:Splign:2.1.0"
     exon            828..971
                     /gene="TMEM255A"
                     /gene_synonym="FAM70A"
                     /inference="alignment:Splign:2.1.0"
     exon            972..3350
                     /gene="TMEM255A"
                     /gene_synonym="FAM70A"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3327..3332
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM255A"
                     /gene_synonym="FAM70A"
                     /note="hexamer: AATAAA"
     polyA_site      3350
                     /gene="TMEM255A"
                     /gene_synonym="FAM70A"
                     /note="major polyA site"
ORIGIN      
        1 acttgggctg cagctcgcaa ccagaggcag tgtctctcag ctctcggaag gaccgagaga
       61 ggcaaccgcg gagtaggatg ctctgcgggg cgcccagagc cgggggcgct tgaagcagct
      121 tcggggactg gggcaaccgg gcagttttca ccatgcatca gtccctgact cagcagcggt
      181 ccagcgacat gtccctgccc gattccatgg gagcattcaa tcggaggaaa cgaaactcca
      241 tctatgtcac cgtgactttg cttattgtgt ccgtgttaat tctcacagtg ggccttgctg
      301 caaccaccag gacccagaat gtgactgtag gaggttatta ccccggagtt attctcggct
      361 ttggatcgtt ccttggaatc attggatcaa accttattga gaacaaaagg cagatgctgg
      421 tggcttctat cgtgtttatc agctttggtg tgattgcggc tttttgttgt gccatagttg
      481 acggggtctt tgctgccaga cacattgatc tgaaaccact ctacgctaac cggtgccatt
      541 atgttcccaa gacatcacag aaggaagctg aggaggttaa ctgccctcac ctcagccgtg
      601 aattctgcac acctcgcatc cggggcaaca cctgcttctg ctgtgacctc tacaactgtg
      661 gcaaccgggt ggagatcact ggtgggtact acgaatacat cgatgtcagc agttgccaag
      721 atatcatcca cctctaccac ctgctctggt ctgccaccat cctcaacatt gttggcctgt
      781 tcctgggcat catcactgcc gctgtccttg gaggctttaa ggacatgaac ccaactctcc
      841 cagcactgaa ctgttctgtt gaaaataccc atccaacagt ttcttactat gctcatcccc
      901 aagtggcatc ctacaatacc tactaccata gccctcctca cctgccacca tattctgctt
      961 atgactttca gcattccggt gtctttccat cctcccctcc ctctggactt tctgatgagc
     1021 cccagtctgc ctctccctca cccagctaca tgtggtcctc aagtgcaccg ccccgttact
     1081 ctccacccta ctatccacct tttgaaaagc caccacctta cagtccctaa agaggaatgc
     1141 ctgctggcta ttgagattat tgtggctttt gtatttctgc ttcagtggaa gtgtgtaggg
     1201 tacaaaattt aaagtgtgac tcttatgcat aaagttttac aatggcctgc caggctaggg
     1261 aaagataggg acgaagctta ttcattatta gtgcagagca ggggtggtca ggctgaacgc
     1321 agcacagaag ggcagctcac attctctaag caagactggg gagccagccc agcaagaagc
     1381 ttgtttggac ttgcattacc ctatgctcca cctctgtatt cagcagaagt gtggttgcca
     1441 tctttttcac tttatgtaaa ggagtgttgc cctcgggccc ttggcagatt gccaccccag
     1501 cacctaggtt gaagcacctg gtttataggc cctatctttc cctaccccta aagtcagtcc
     1561 ctaaggacaa tttcccagct gatggggcta cacagtagtt ccaatacaga gagttctggc
     1621 taagattttg tttgcttgtg tctggatgtt gaaaaagact gcccgtatct cttactcctt
     1681 ccttctctgt gagtattgta aaaatggctg ttgtgatcac tcagctcagc ttttgttatt
     1741 ggtacctcct aaagggaaaa gtgcaatatt cttgcatctt cagtagtggg gaacaggatg
     1801 tattgttccg gaaacactga aatacacagc aacatgtgag atgttttaag tagatcactt
     1861 aggagacagt ggttctacta catgttgcat tattacaaaa tacatttgct acaggagata
     1921 taaatcttat ggttgtaatt cagagtttaa aaatgttata aattaggttc ttgggtcgtg
     1981 atatgaattg ttactaatct ttgtgactat ttaatcttca aatattgtgc ttaaccccag
     2041 caatccgcac gtatcctgca ccccacccca aaagagtcat ctgtatttta atgccactgg
     2101 tcttatcggt ccttttgtct gttgagacca gtcatgacag cattcaagat tatgaaagtg
     2161 ttacaatgcc gcttcaagtc tgcaaaacct caaacgtagc caacttgaca aatatttaag
     2221 tgttacggca gatttaaaat ccatctggca caccgtggta ggtatttgta cagttctttt
     2281 aattacacat agctttaaac catcaacctg atgagtttaa agcttttgca cccatgcctt
     2341 cacttcagaa tgaacacctt cattgtgatc ttatgttaac ctgagaattg atttaaagga
     2401 agattgataa tcctatactt tataacgtaa aaatacaggg gctacaggag ggtacctaat
     2461 tagacagttc tccaaacaca gaacacacac tggaaaattt tccggccaat tttgctacct
     2521 cccaacttga tggattagag gtagcgcaaa tgctggtgct cccatctacc ttgtagacac
     2581 ttagccatca agaatcaagg cacaagaagt gcactctctc attaacagta aatgtttgca
     2641 agatattcag tttaactttc agcatcatga atgttcttat ccagattttg aatccgaaaa
     2701 actataatcc ttttatgtta tacaaaatta ctatgatttt ttacagttct gagcatatta
     2761 aaattctact ggatttcaaa aagagactaa tacccaactg actaactaaa caaatatcaa
     2821 cttgtaatac tcaatgaatt tttttgccat ttacatttga ccgttggctt tagtgaatgt
     2881 ccatatttaa ttttttaagg caccattaca cagtttatcc tacatttatc acatttctta
     2941 aagtgttaag attctatggc tcatttctat gtatttttct tactttacaa aataacctga
     3001 aacagtatag attttgtaac acttaatttg agcagctttt ttattacatt gaattataca
     3061 aagtgcatgt taccttagaa aaattaatat ttgctgcttt actcttttgc aaaacatttg
     3121 ctgtaatgaa tggatttgta tttccaatat gtatcttgac tgcattttgt aatatttact
     3181 gctttattcc taattctgct ttaaagtact gaactgggca tgaaacatta aaatattaat
     3241 ccagaaactg tataaactgg atgttgctta aaatctgtat cactgccatg ttgaaaactc
     3301 agactgcttt tgtgatgttt caaatgaata aaactatcct cccctcgtta
//
