LOCUS       NM_004699               1337 bp    mRNA    linear   PRI 02-APR-2024
DEFINITION  Homo sapiens family with sequence similarity 50 member A (FAM50A),
            mRNA.
ACCESSION   NM_004699
VERSION     NM_004699.4
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 1337)
  AUTHORS   Hu,M.Z., Dai,Z.Z., Ji,H.Y., Zheng,A.Q., Liang,H., Shen,M.M.,
            Liu,J.N., Tang,K.F., Zhu,S.J. and Wang,K.J.
  TITLE     Upregulation of FAM50A promotes cancer development
  JOURNAL   Med Oncol 40 (8), 217 (2023)
   PUBMED   37393403
  REMARK    GeneRIF: Upregulation of FAM50A promotes cancer development.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1337)
  AUTHORS   Xie,X., Li,L., Tao,S., Chen,M., Fei,L., Yang,Q., Huang,C. and
            Chen,L.
  TITLE     Proto-Oncogene FAM50A Can Regulate the Immune Microenvironment and
            Development of Hepatocellular Carcinoma In Vitro and In Vivo
  JOURNAL   Int J Mol Sci 24 (4), 3217 (2023)
   PUBMED   36834630
  REMARK    GeneRIF: Proto-Oncogene FAM50A Can Regulate the Immune
            Microenvironment and Development of Hepatocellular Carcinoma In
            Vitro and In Vivo.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1337)
  AUTHORS   Haghshenas,S., Levy,M.A., Kerkhof,J., Aref-Eshghi,E., McConkey,H.,
            Balci,T., Siu,V.M., Skinner,C.D., Stevenson,R.E., Sadikovic,B. and
            Schwartz,C.
  TITLE     Detection of a DNA Methylation Signature for the Intellectual
            Developmental Disorder, X-Linked, Syndromic, Armfield Type
  JOURNAL   Int J Mol Sci 22 (3), 1111 (2021)
   PUBMED   33498634
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1337)
  AUTHORS   Lee,Y.R., Khan,K., Armfield-Uhas,K., Srikanth,S., Thompson,N.A.,
            Pardo,M., Yu,L., Norris,J.W., Peng,Y., Gripp,K.W., Aleck,K.A.,
            Li,C., Spence,E., Choi,T.I., Kwon,S.J., Park,H.M., Yu,D., Heo,W.D.,
            Mooney,M.R., Baig,S.M., Wentzensen,I.M., Telegrafi,A., McWalter,K.,
            Moreland,T., Roadhouse,C., Ramsey,K., Lyons,M.J., Skinner,C.,
            Alexov,E., Katsanis,N., Stevenson,R.E., Choudhary,J.S., Adams,D.J.,
            Kim,C.H., Davis,E.E. and Schwartz,C.E.
  TITLE     Mutations in FAM50A suggest that Armfield XLID syndrome is a
            spliceosomopathy
  JOURNAL   Nat Commun 11 (1), 3698 (2020)
   PUBMED   32703943
  REMARK    GeneRIF: Mutations in FAM50A suggest that Armfield XLID syndrome is
            a spliceosomopathy.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1337)
  AUTHORS   Armfield,K., Nelson,R., Lubs,H.A., Hane,B., Schroer,R.J., Arena,F.,
            Schwartz,C.E. and Stevenson,R.E.
  TITLE     X-linked mental retardation syndrome with short stature, small
            hands and feet, seizures, cleft palate, and glaucoma is linked to
            Xq28
  JOURNAL   Am J Med Genet 85 (3), 236-242 (1999)
   PUBMED   10398235
REFERENCE   6  (bases 1 to 1337)
  AUTHORS   Mazzarella,R., Pengue,G., Yoon,J., Jones,J. and Schlessinger,D.
  TITLE     Differential expression of XAP5, a candidate disease gene
  JOURNAL   Genomics 45 (1), 216-219 (1997)
   PUBMED   9339379
REFERENCE   7  (bases 1 to 1337)
  AUTHORS   Toyoda,A., Sakai,T., Sugiyama,Y., Kusuda,J., Hashimoto,K. and
            Maeda,H.
  TITLE     Isolation and analysis of a novel gene, HXC-26, adjacent to the rab
            GDP dissociation inhibitor gene located at human chromosome Xq28
            region
  JOURNAL   DNA Res 3 (5), 337-340 (1996)
   PUBMED   9039504
REFERENCE   8  (bases 1 to 1337)
  AUTHORS   Chen,E.Y., Zollo,M., Mazzarella,R., Ciccodicola,A., Chen,C.N.,
            Zuo,L., Heiner,C., Burough,F., Repetto,M., Schlessinger,D. and
            D'Urso,M.
  TITLE     Long-range sequence analysis in Xq28: thirteen known and six
            candidate genes in 219.4 kb of high GC DNA between the RCP/GCP and
            G6PD loci
  JOURNAL   Hum Mol Genet 5 (5), 659-668 (1996)
   PUBMED   8733135
REFERENCE   9  (bases 1 to 1337)
  AUTHORS   Bione,S., Tamanini,F., Maestrini,E., Tribioli,C., Poustka,A.,
            Torri,G., Rivella,S. and Toniolo,D.
  TITLE     Transcriptional organization of a 450-kb region of the human X
            chromosome in Xq28
  JOURNAL   Proc Natl Acad Sci U S A 90 (23), 10977-10981 (1993)
   PUBMED   8248200
REFERENCE   10 (bases 1 to 1337)
  AUTHORS   Sedlacek,Z., Korn,B., Konecki,D.S., Siebenhaar,R., Coy,J.F.,
            Kioschis,P. and Poustka,A.
  TITLE     Construction of a transcription map of a 300 kb region around the
            human G6PD locus by direct cDNA selection
  JOURNAL   Hum Mol Genet 2 (11), 1865-1869 (1993)
   PUBMED   8281148
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CR992165.1, D83260.1 and
            BQ018378.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_004699.3.
            
            Summary: This gene belongs to the FAM50 family. The encoded protein
            is highly conserved in length and sequence across different
            species. It is a basic protein containing a nuclear localization
            signal, and may function as a DNA-binding protein or a
            transcriptional factor. [provided by RefSeq, Sep 2009].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189652.90169.1,
                                           SRR1163658.232695.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000393600.8/ ENSP00000377225.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-115               CR992165.1         16-130
            116-1331            D83260.1           1-1216
            1332-1337           BQ018378.1         18-23               c
FEATURES             Location/Qualifiers
     source          1..1337
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     gene            1..1337
                     /gene="FAM50A"
                     /gene_synonym="9F; DXS9928E; HXC-26; HXC26; MRXSA; XAP5"
                     /note="family with sequence similarity 50 member A"
                     /db_xref="GeneID:9130"
                     /db_xref="HGNC:HGNC:18786"
                     /db_xref="MIM:300453"
     exon            1..206
                     /gene="FAM50A"
                     /gene_synonym="9F; DXS9928E; HXC-26; HXC26; MRXSA; XAP5"
                     /inference="alignment:Splign:2.1.0"
     CDS             96..1115
                     /gene="FAM50A"
                     /gene_synonym="9F; DXS9928E; HXC-26; HXC26; MRXSA; XAP5"
                     /note="protein XAP-5; Armfield X-linked mental retardation
                     syndrome"
                     /codon_start=1
                     /product="protein FAM50A"
                     /protein_id="NP_004690.1"
                     /db_xref="CCDS:CCDS14751.1"
                     /db_xref="GeneID:9130"
                     /db_xref="HGNC:HGNC:18786"
                     /db_xref="MIM:300453"
                     /translation="MAQYKGAASEAGRAMHLMKKREKQREQMEQMKQRIAEENIMKSN
                     IDKKFSAHYDAVEAELKSSTVGLVTLNDMKAKQEALVKEREKQLAKKEQSKELQMKLE
                     KLREKERKKEAKRKISSLSFTLEEEEEGGEEEEEAAMYEEEMEREEITTKKRKLGKNP
                     DVDTSFLPDRDREEEENRLREELRQEWEAKQEKIKSEEIEITFSYWDGSGHRRTVKMR
                     KGNTMQQFLQKALEILRKDFSELRSAGVEQLMYIKEDLIIPHHHSFYDFIVTKARGKS
                     GPLFNFDVHDDVRLLSDATVEKDESHAGKVVLRSWYEKNKHIFPASRWEPYDPEKKWD
                     KYTIR"
     exon            207..291
                     /gene="FAM50A"
                     /gene_synonym="9F; DXS9928E; HXC-26; HXC26; MRXSA; XAP5"
                     /inference="alignment:Splign:2.1.0"
     exon            292..391
                     /gene="FAM50A"
                     /gene_synonym="9F; DXS9928E; HXC-26; HXC26; MRXSA; XAP5"
                     /inference="alignment:Splign:2.1.0"
     exon            392..537
                     /gene="FAM50A"
                     /gene_synonym="9F; DXS9928E; HXC-26; HXC26; MRXSA; XAP5"
                     /inference="alignment:Splign:2.1.0"
     exon            538..614
                     /gene="FAM50A"
                     /gene_synonym="9F; DXS9928E; HXC-26; HXC26; MRXSA; XAP5"
                     /inference="alignment:Splign:2.1.0"
     exon            615..681
                     /gene="FAM50A"
                     /gene_synonym="9F; DXS9928E; HXC-26; HXC26; MRXSA; XAP5"
                     /inference="alignment:Splign:2.1.0"
     exon            682..743
                     /gene="FAM50A"
                     /gene_synonym="9F; DXS9928E; HXC-26; HXC26; MRXSA; XAP5"
                     /inference="alignment:Splign:2.1.0"
     exon            744..820
                     /gene="FAM50A"
                     /gene_synonym="9F; DXS9928E; HXC-26; HXC26; MRXSA; XAP5"
                     /inference="alignment:Splign:2.1.0"
     exon            821..875
                     /gene="FAM50A"
                     /gene_synonym="9F; DXS9928E; HXC-26; HXC26; MRXSA; XAP5"
                     /inference="alignment:Splign:2.1.0"
     exon            876..924
                     /gene="FAM50A"
                     /gene_synonym="9F; DXS9928E; HXC-26; HXC26; MRXSA; XAP5"
                     /inference="alignment:Splign:2.1.0"
     exon            925..995
                     /gene="FAM50A"
                     /gene_synonym="9F; DXS9928E; HXC-26; HXC26; MRXSA; XAP5"
                     /inference="alignment:Splign:2.1.0"
     exon            996..1106
                     /gene="FAM50A"
                     /gene_synonym="9F; DXS9928E; HXC-26; HXC26; MRXSA; XAP5"
                     /inference="alignment:Splign:2.1.0"
     exon            1107..1337
                     /gene="FAM50A"
                     /gene_synonym="9F; DXS9928E; HXC-26; HXC26; MRXSA; XAP5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1287..1292
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAM50A"
                     /gene_synonym="9F; DXS9928E; HXC-26; HXC26; MRXSA; XAP5"
                     /note="hexamer: AATAAA"
     polyA_site      1315
                     /gene="FAM50A"
                     /gene_synonym="9F; DXS9928E; HXC-26; HXC26; MRXSA; XAP5"
                     /note="major polyA site"
     polyA_site      1337
                     /gene="FAM50A"
                     /gene_synonym="9F; DXS9928E; HXC-26; HXC26; MRXSA; XAP5"
                     /note="major polyA site"
ORIGIN      
        1 agctgactgt tcggccgcca ccgccgctgc cgctgccgct gtcgctgtcg ccgccgccgc
       61 cgcccgccgc cgccgccgcc gccgccgccg ctgccatggc tcaatacaag ggcgccgcga
      121 gcgaggccgg ccgcgccatg cacctgatga agaagcggga gaagcagcgc gagcagatgg
      181 agcagatgaa gcagcgcatc gcggaggaga acatcatgaa atccaacatt gacaagaagt
      241 tctctgcgca ctacgacgcg gtggaggcag agctcaagtc cagcaccgtg ggtctcgtga
      301 ccctgaatga catgaaggcc aagcaggagg ctctggtgaa ggagcgggag aagcagctgg
      361 ccaagaagga gcagtccaag gagctgcaga tgaagctgga gaagcttcga gagaaggagc
      421 gtaagaagga agccaagcgg aagatctcca gcctgtcctt caccctggag gaggaagaag
      481 agggaggcga ggaggaagag gaggcggcca tgtatgagga ggagatggaa agggaagaga
      541 tcaccacgaa gaagagaaaa ctggggaaga acccagacgt tgacacaagc ttcttgcctg
      601 atcgagaccg tgaggaggag gagaatcggc ttcgggaaga gctgcggcag gagtgggaag
      661 ccaagcagga gaagatcaag agtgaggaga tcgagatcac cttcagctac tgggatggct
      721 ctgggcaccg gcggacagtc aagatgagaa agggcaacac catgcagcag ttcctgcaga
      781 aggcgctcga gatccttcgg aaagacttca gtgagctgag gtccgcaggg gtggagcagc
      841 tcatgtacat caaggaggac ttgatcatcc ctcaccatca cagcttctac gacttcatcg
      901 tcaccaaggc acgggggaag agtggaccac tcttcaactt tgatgttcat gacgatgtgc
      961 ggttgctcag tgacgccact gtggagaagg atgagtccca tgcaggcaag gtggtgctga
     1021 ggagctggta cgagaagaac aagcacatct ttcccgccag ccgctgggaa ccctacgacc
     1081 ctgaaaagaa gtgggacaag tacacgatcc gctgagcatc caggaggctg cgcggccccg
     1141 gctcctcagc tccctcagtg tgccccgtgg tgtcaccggg actccaggca cccgctcccc
     1201 tgcgaccatg ccaggcacgc tgggaggagg acggcagctg ctcgtgtcct gcccctgcca
     1261 catcagtgac tgctttattc ttttccaata aagaagtgca cgtgtcagag ctggagcgcc
     1321 tgcattgtga gaaacca
//
