LOCUS       NM_001302348            2232 bp    mRNA    linear   PRI 04-AUG-2024
DEFINITION  Homo sapiens UBAP1-MVB12-associated (UMA) domain containing 1
            (UMAD1), transcript variant 1, mRNA.
ACCESSION   NM_001302348 NR_034084 XR_040869 XR_040870
VERSION     NM_001302348.2
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 2232)
  AUTHORS   Shirai,Y., Honda,S., Ikari,K., Kanai,M., Takeda,Y., Kamatani,Y.,
            Morisaki,T., Tanaka,E., Kumanogoh,A., Harigai,M. and Okada,Y.
  TITLE     Association of the RPA3-UMAD1 locus with interstitial lung diseases
            complicated with rheumatoid arthritis in Japanese
  JOURNAL   Ann Rheum Dis 79 (10), 1305-1309 (2020)
   PUBMED   32737115
  REMARK    GeneRIF: Association of the RPA3-UMAD1 locus with interstitial lung
            diseases complicated with rheumatoid arthritis in Japanese.
REFERENCE   2  (bases 1 to 2232)
  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 2232)
  AUTHORS   Zeng,Z., Feingold,E., Wang,X., Weeks,D.E., Lee,M., Cuenco,D.T.,
            Broffitt,B., Weyant,R.J., Crout,R., McNeil,D.W., Levy,S.M.,
            Marazita,M.L. and Shaffer,J.R.
  TITLE     Genome-wide association study of primary dentition pit-and-fissure
            and smooth surface caries
  JOURNAL   Caries Res 48 (4), 330-338 (2014)
   PUBMED   24556642
REFERENCE   4  (bases 1 to 2232)
  AUTHORS   Shen,Y., Nicoletti,P., Floratos,A., Pirmohamed,M., Molokhia,M.,
            Geppetti,P., Benemei,S., Giomi,B., Schena,D., Vultaggio,A.,
            Stern,R., Daly,M.J., John,S., Nelson,M.R. and Pe'er,I.
  CONSRTM   International Serious Adverse Events Consortium (SAEC)
  TITLE     Genome-wide association study of serious blistering skin rash
            caused by drugs
  JOURNAL   Pharmacogenomics J 12 (2), 96-104 (2012)
   PUBMED   21221126
REFERENCE   5  (bases 1 to 2232)
  AUTHORS   Kaplan,R.C., Petersen,A.K., Chen,M.H., Teumer,A., Glazer,N.L.,
            Doring,A., Lam,C.S., Friedrich,N., Newman,A., Muller,M., Yang,Q.,
            Homuth,G., Cappola,A., Klopp,N., Smith,H., Ernst,F., Psaty,B.M.,
            Wichmann,H.E., Sawyer,D.B., Biffar,R., Rotter,J.I., Gieger,C.,
            Sullivan,L.S., Volzke,H., Rice,K., Spyroglou,A., Kroemer,H.K., Ida
            Chen,Y.D., Manolopoulou,J., Nauck,M., Strickler,H.D.,
            Goodarzi,M.O., Reincke,M., Pollak,M.N., Bidlingmaier,M., Vasan,R.S.
            and Wallaschofski,H.
  TITLE     A genome-wide association study identifies novel loci associated
            with circulating IGF-I and IGFBP-3
  JOURNAL   Hum Mol Genet 20 (6), 1241-1251 (2011)
   PUBMED   21216879
REFERENCE   6  (bases 1 to 2232)
  AUTHORS   de Souza,R.F. and Aravind,L.
  TITLE     UMA and MABP domains throw light on receptor endocytosis and
            selection of endosomal cargoes
  JOURNAL   Bioinformatics 26 (12), 1477-1480 (2010)
   PUBMED   20448139
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DC368552.1, AC006465.2 and AI565121.1.
            
            On Jun 2, 2019 this sequence version replaced NM_001302348.1.
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (a). Variants 1 and 2 encode the same isoform (a).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.371540.1,
                                           DRR138515.348592.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142363, SAMEA2145240
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000682710.1/ ENSP00000507605.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-549               DC368552.1         1-549
            550-2015            AC006465.2         37507-38972
            2016-2232           AI565121.1         10-226              c
FEATURES             Location/Qualifiers
     source          1..2232
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p21.3"
     gene            1..2232
                     /gene="UMAD1"
                     /gene_synonym="RPA3-AS1; RPA3OS"
                     /note="UBAP1-MVB12-associated (UMA) domain containing 1"
                     /db_xref="GeneID:729852"
                     /db_xref="HGNC:HGNC:48955"
     exon            1..70
                     /gene="UMAD1"
                     /gene_synonym="RPA3-AS1; RPA3OS"
                     /inference="alignment:Splign:2.1.0"
     exon            71..215
                     /gene="UMAD1"
                     /gene_synonym="RPA3-AS1; RPA3OS"
                     /inference="alignment:Splign:2.1.0"
     CDS             134..547
                     /gene="UMAD1"
                     /gene_synonym="RPA3-AS1; RPA3OS"
                     /note="isoform a is encoded by transcript variant 1; RPA3
                     antisense RNA 1; RPA3 opposite strand;
                     UBAP1-MVB12-associated (UMA)-domain containing protein 1"
                     /codon_start=1
                     /product="UBAP1-MVB12-associated (UMA)-domain containing
                     protein 1 isoform a"
                     /protein_id="NP_001289277.1"
                     /db_xref="CCDS:CCDS83158.1"
                     /db_xref="GeneID:729852"
                     /db_xref="HGNC:HGNC:48955"
                     /translation="MFHFFRKPPESKKPSVPETEADGFVLLGDTTDEQRMTARGKTSD
                     IEANQPLETNKENSSSVTVSDPEMENKAGQTLENSSLMAELLSDVPFTLAPHVLAVQG
                     TITDLPDHLLSYDGSENLSRFWYDFTLENSVLCDS"
     exon            216..289
                     /gene="UMAD1"
                     /gene_synonym="RPA3-AS1; RPA3OS"
                     /inference="alignment:Splign:2.1.0"
     exon            290..2232
                     /gene="UMAD1"
                     /gene_synonym="RPA3-AS1; RPA3OS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2198..2203
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UMAD1"
                     /gene_synonym="RPA3-AS1; RPA3OS"
                     /note="hexamer: AATAAA"
     polyA_site      2232
                     /gene="UMAD1"
                     /gene_synonym="RPA3-AS1; RPA3OS"
                     /note="major polyA site"
ORIGIN      
        1 gacttgaccc cggaagtggg gtgtgaagct ccggtgctgg tgcggcgggg gactgcgggg
       61 ccagcctcag gtagcagcag cagcagcagc agcagcagca gcagcagcag cagcagcagc
      121 agcagcagca gcaatgtttc acttcttcag aaagcctccg gaatctaaaa agccctcagt
      181 accagagaca gaagcagatg gattcgtcct tttaggagat acaacagatg agcaaagaat
      241 gacagcaaga ggcaaaactt cggacataga ggccaaccaa cctttggaga ccaacaaaga
      301 aaattcatcc agtgtgactg tatcagaccc tgagatggaa aataaggcag gccagactct
      361 ggagaacagc tcattaatgg ccgagctcct gagcgatgtg ccgttcaccc tggccccgca
      421 tgtgctggca gtacagggca ccatcactga ccttcccgac cacttactct cctatgatgg
      481 cagcgaaaac ttatcacggt tttggtatga tttcactctt gaaaattcag tgctctgtga
      541 ttcataacct ttatgtctgt ttgcacctta acagctttaa aatatgttcg cctattttat
      601 ctaacctgtt tgatgttctt tgccgtttca ctgtttaagg tcctcagcaa ggatcataaa
      661 gcaaagaaaa tagcattatg ttcactactc tatttttaag aaaaaggtac atttgtatac
      721 aaattgaact taagttctac ttcctttctc ccatataata aatatacaaa ttaggctatg
      781 aaggttttag gaaaggactc gattccttca gatggtctct caaaatataa cacctcaaat
      841 ttatcttaga agaactgtga aaaagaattg tggcattttt cagtcactac agctccgaag
      901 tctgagcaag aagtgggtgt gaagtctcct ctctggtttg taggaagttg aattggtgtt
      961 attcctgcat ttttttcttc cacagtgttt atgaatgaat tcagaaaaaa agttgccagt
     1021 tagcttaatt tcttcagatg cattgatgtg gaaatttaaa acttgtccta aacagcagtg
     1081 ctagtttgct gatacaagga tgctagacct gctctgcgtg ctctttctgg agtggcccat
     1141 ttcggttttc tgaaacccat ggcagccctt tccatcgtga ataatcgttg tgttcccacc
     1201 tttgttctct gcctttttgc tacttcagtg tgctctctga ccagctttcc aaagaacttt
     1261 ccctgcttct gcctcggttg ccatttgctc tccttaccac atatgttccc agtttatgaa
     1321 gagatccaca tttcctttca acccctctgc ctcctgaaga aaaacatctc atgatgatac
     1381 atattattgc tgataacacc cttatttaga aatttgttgg ccacaataga gatggaaatg
     1441 ttttactgct ggaaaaactg aaatcaactc atttccaatt agagtatagg cagaacacct
     1501 agatatgact tttagttctt gaatatccat tacttacttt aatgaaaaca gaactgccat
     1561 tggtcaataa actgtaaagg gaagaggtaa attgtgatag agaattttct atgtcatggg
     1621 aaattgaaat cacatttatt ttgattacca gcaatatgat ttgttaactc tgtgccaagt
     1681 tttaagtata ttttttcaca aagatagagt gccatagtga aactaaacac tgtgcataaa
     1741 ggtacatgaa ttattccagt tttaaagtat tatgcatgtt tgtttaataa atgtggcatg
     1801 gttttaatac aaatgctatg ttatttaaaa gttagaggaa catttctatt gacaaaaata
     1861 tgcttcattt acatataatg ttaccatatg gtgttaatga ttaaattaga tctttacata
     1921 gttcttacaa agcatcagtc taggaaatat gacttattac tgatgcaaac gtgaacattt
     1981 tgtagtagtt ttgtaaaaga acatcctttt caaatatctg tgttaatgta cccttgaaat
     2041 taaatgcaag cacatagtca gtttgtctaa ttttgtgtga aattttgtcg aaaataccta
     2101 aacatttcat ctatatttgt gcctaccatg ttataaatgt tcataagtac cttcatgtgt
     2161 ctataaaaaa tgttatattt aaataaatgt gaattaaaat aaaatttttg attattttca
     2221 gatccagaaa aa
//
