LOCUS       NM_014313               2266 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens transmembrane protein 50A (TMEM50A), mRNA.
ACCESSION   NM_014313
VERSION     NM_014313.4
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 2266)
  AUTHORS   Chen,H., Lv,P., Liu,Z., Chen,W., Yao,Y., Liu,C., Cao,Q. and Zhou,H.
  TITLE     Preliminary study on the function of TMEM50A and its correlation
            with the RH genes
  JOURNAL   Transfus Med 31 (4), 277-285 (2021)
   PUBMED   33899290
REFERENCE   2  (bases 1 to 2266)
  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   3  (bases 1 to 2266)
  AUTHORS   Kullo,I.J., Ding,K., Shameer,K., McCarty,C.A., Jarvik,G.P.,
            Denny,J.C., Ritchie,M.D., Ye,Z., Crosslin,D.R., Chisholm,R.L.,
            Manolio,T.A. and Chute,C.G.
  TITLE     Complement receptor 1 gene variants are associated with erythrocyte
            sedimentation rate
  JOURNAL   Am J Hum Genet 89 (1), 131-138 (2011)
   PUBMED   21700265
REFERENCE   4  (bases 1 to 2266)
  AUTHORS   Tao,W.A., Wollscheid,B., O'Brien,R., Eng,J.K., Li,X.J.,
            Bodenmiller,B., Watts,J.D., Hood,L. and Aebersold,R.
  TITLE     Quantitative phosphoproteome analysis using a dendrimer conjugation
            chemistry and tandem mass spectrometry
  JOURNAL   Nat Methods 2 (8), 591-598 (2005)
   PUBMED   16094384
REFERENCE   5  (bases 1 to 2266)
  AUTHORS   Wagner,F.F. and Flegel,W.A.
  TITLE     RHCE represents the ancestral RH position, while RHD is the
            duplicated gene
  JOURNAL   Blood 99 (6), 2272-2273 (2002)
   PUBMED   11902138
REFERENCE   6  (bases 1 to 2266)
  AUTHORS   Simpson,J.C., Wellenreuther,R., Poustka,A., Pepperkok,R. and
            Wiemann,S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
REFERENCE   7  (bases 1 to 2266)
  AUTHORS   Wagner,F.F. and Flegel,W.A.
  TITLE     RHD gene deletion occurred in the Rhesus box
  JOURNAL   Blood 95 (12), 3662-3668 (2000)
   PUBMED   10845894
REFERENCE   8  (bases 1 to 2266)
  AUTHORS   Flegel,W.A. and Wagner,F.F.
  TITLE     Molecular genetics of RH
  JOURNAL   Vox Sang 78 Suppl 2, 109-115 (2000)
   PUBMED   10938938
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL928711.18, BC066908.1,
            AI968279.1 and CX867650.1.
            
            On Nov 23, 2018 this sequence version replaced NM_014313.3.
            
            Summary: This gene is located in the RH gene locus, between the RHD
            and RHCE genes. The function of its protein product is unknown;
            however, its sequence has potential transmembrane domains
            suggesting that it may be an integral membrane protein. Its
            position between the RH genes suggests that polymorphisms in this
            gene may be tightly linked to RH haplotypes and may contribute to
            selective pressure for or against certain RH haplotypes. [provided
            by RefSeq, Jul 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: JX644905.1, JX644906.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000374358.5/ ENSP00000363478.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-123               AL928711.18        72340-72462
            124-229             AL928711.18        74480-74585
            230-342             AL928711.18        76967-77079
            343-410             AL928711.18        85632-85699
            411-503             AL928711.18        86888-86980
            504-564             AL928711.18        90799-90859
            565-899             AL928711.18        94666-95000
            900-1689            BC066908.1         875-1664
            1690-2256           AI968279.1         15-581              c
            2257-2266           CX867650.1         26-35               c
FEATURES             Location/Qualifiers
     source          1..2266
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.11"
     gene            1..2266
                     /gene="TMEM50A"
                     /gene_synonym="IFNRC; SMP1"
                     /note="transmembrane protein 50A"
                     /db_xref="GeneID:23585"
                     /db_xref="HGNC:HGNC:30590"
                     /db_xref="MIM:605348"
     exon            1..123
                     /gene="TMEM50A"
                     /gene_synonym="IFNRC; SMP1"
                     /inference="alignment:Splign:2.1.0"
     exon            124..229
                     /gene="TMEM50A"
                     /gene_synonym="IFNRC; SMP1"
                     /inference="alignment:Splign:2.1.0"
     CDS             137..610
                     /gene="TMEM50A"
                     /gene_synonym="IFNRC; SMP1"
                     /note="small membrane protein 1; cervical cancer oncogene
                     9"
                     /codon_start=1
                     /product="transmembrane protein 50A"
                     /protein_id="NP_055128.1"
                     /db_xref="CCDS:CCDS264.1"
                     /db_xref="GeneID:23585"
                     /db_xref="HGNC:HGNC:30590"
                     /db_xref="MIM:605348"
                     /translation="MSGFLEGLRCSECIDWGEKRNTIASIAAGVLFFTGWWIIIDAAV
                     IYPTMKDFNHSYHACGVIATIAFLMINAVSNGQVRGDSYSEGCLGQTGARIWLFVGFM
                     LAFGSLIASMWILFGGYVAKEKDIVYPGIAVFFQNAFIFFGGLVFKFGRTEDLWQ"
     exon            230..342
                     /gene="TMEM50A"
                     /gene_synonym="IFNRC; SMP1"
                     /inference="alignment:Splign:2.1.0"
     exon            343..410
                     /gene="TMEM50A"
                     /gene_synonym="IFNRC; SMP1"
                     /inference="alignment:Splign:2.1.0"
     exon            411..503
                     /gene="TMEM50A"
                     /gene_synonym="IFNRC; SMP1"
                     /inference="alignment:Splign:2.1.0"
     exon            504..564
                     /gene="TMEM50A"
                     /gene_synonym="IFNRC; SMP1"
                     /inference="alignment:Splign:2.1.0"
     exon            565..2266
                     /gene="TMEM50A"
                     /gene_synonym="IFNRC; SMP1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2245..2250
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM50A"
                     /gene_synonym="IFNRC; SMP1"
                     /note="hexamer: ATTAAA"
     polyA_site      2266
                     /gene="TMEM50A"
                     /gene_synonym="IFNRC; SMP1"
                     /note="major polyA site"
ORIGIN      
        1 actgctgcat ccgggtgtct ggaggctgtg gccgttttgt tttcttggct aaaatcgggg
       61 gagtgaggcg ggccggcgcg gcgcgacacc gggctccgga accactgcac gacggggctg
      121 gactgacctg aaaaaaatgt ctggatttct agagggcttg agatgctcag aatgcattga
      181 ctggggggaa aagcgcaata ctattgcttc cattgctgct ggtgtactat tttttacagg
      241 ctggtggatt atcatagatg cagctgttat ttatcccacc atgaaagatt tcaaccactc
      301 ataccatgcc tgtggtgtta tagcaaccat agccttccta atgattaatg cagtatcgaa
      361 tggacaagtc cgaggtgata gttacagtga aggttgtctg ggtcaaacag gtgctcgcat
      421 ttggcttttc gttggtttca tgttggcctt tggatctctg attgcatcta tgtggattct
      481 ttttggaggt tatgttgcta aagaaaaaga catagtatac cctggaattg ctgtattttt
      541 ccagaatgcc ttcatctttt ttggagggct ggtttttaag tttggccgca ctgaagactt
      601 atggcagtga acacatctga tttcccacag cacaacagcc ctgcatgggt ttgtttgttt
      661 ttttactgct cactcccaac cttttgtaat gccattttct aaacttattt ctgagtgtag
      721 tctcagctta aagttgtgta atactaaaat cacgagaaca cctaaacaac aaccaaaaat
      781 ctattgtggt atgcacttga ttaacttata aaatgttaga ggaaactttc acatgaataa
      841 tttttgtcaa attttatcat ggtataattt gtaaaaataa aaagaaatta caaaagaaat
      901 tatggatttg tcaatgtaag tatttgtcat atctgaggtc caaaaccaca atgaaagtgc
      961 tctgaagatt taatgtgttt attcaaatgt ggtctcttct gtgtcaaatg ttaaatgaaa
     1021 tataaacatt ttttagtttt taaaatattc cgtggtcaaa attcttcctc actataattg
     1081 gtatttactt ttaccaaaaa ttctgtgaac atgtaatgta actggctttt gagggtctcc
     1141 caaggggtga gtggacgtgt tggaagagag aagcaccatg gtccagccac caggctccct
     1201 gtgtcccttc catgggaagg tcttccgctg tgcctctcat tccaagggca ggaagatgtg
     1261 actcagccat gacacgtggt tctggtggga tgcacagtca ctccacatcc accattgaag
     1321 gaaaggaaaa aagggcagag acttgacact ccagtcttag acaggggaca atttctttgt
     1381 agttgttctg ataataaact gggttccatg ttgcatttca tctgtgtact gaaccactag
     1441 cctaatagac cagcacggtc aactagaatg acaaacatta gctactggga actcttgttg
     1501 tctcttcctc ttcagaactc ttgtcccccc aggctcccca cctctgcaag atgggataca
     1561 ctcttcagga ccacagtttg aaatgtcttt cataaaatgt gctacaatta gccttcggaa
     1621 tatttgctgg gtgatttaaa tgtgtgggtc tcatttccat gctagccatg gtcatctgac
     1681 agtctctaca ctgtgaatat tgcctggtga tcaagactct cctcaaagaa atgacttgct
     1741 gtcatcccac atgaactcct gatgtttttt ctacaaaagt ccataaaatg tgaaaactgg
     1801 agaagatctt agaggttgaa gcccaccttc tcttttcaca taggagggaa cagaccatgg
     1861 aaatttaaac gacttcctca cggtcacaga actagttttt taatcctcag gcagtgcatc
     1921 cccccaccct acaactgagc acaacctctt tccccacagt gcaattcaga atatgctcag
     1981 ggaatgccag ccaccttgta aaactgctgg gagaaaagca tgattcccac aaggactaag
     2041 tatcagtgat ttgtaatttt cctgttttgt attatctgct ttgctgatgt agacaagagt
     2101 taactgagta gcatgcttta ttaagcatga gaaagaatct taagaattgt caataaaatt
     2161 aacccaaaac tttaataatg tgtctgtaac caagaaaata ttgatagcat catcctaatg
     2221 aaactaaaca tttattttaa acttattaaa ttgactctta aactaa
//
