LOCUS       NM_001369789            4232 bp    mRNA    linear   PRI 02-APR-2024
DEFINITION  Homo sapiens PWWP domain containing 3A, DNA repair factor (PWWP3A),
            transcript variant 3, mRNA.
ACCESSION   NM_001369789
VERSION     NM_001369789.1
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 4232)
  AUTHORS   Huen,M.S., Huang,J., Leung,J.W., Sy,S.M., Leung,K.M., Ching,Y.P.,
            Tsao,S.W. and Chen,J.
  TITLE     Regulation of chromatin architecture by the PWWP domain-containing
            DNA damage-responsive factor EXPAND1/MUM1
  JOURNAL   Mol Cell 37 (6), 854-864 (2010)
   PUBMED   20347427
  REMARK    GeneRIF: report the identification of the PWWP domain-containing
            protein EXPAND1/MUM1 as an architectural component of the
            chromatin, which in response to DNA damage serves as an accessory
            factor to promote cell survival.
REFERENCE   2  (bases 1 to 4232)
  AUTHORS   Coulie,P.G., Lehmann,F., Lethe,B., Herman,J., Lurquin,C.,
            Andrawiss,M. and Boon,T.
  TITLE     A mutated intron sequence codes for an antigenic peptide recognized
            by cytolytic T lymphocytes on a human melanoma
  JOURNAL   Proc Natl Acad Sci U S A 92 (17), 7976-7980 (1995)
   PUBMED   7644523
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC004623.2 and AC005329.1.
            
            Transcript Variant: This variant (3) differs in the 5' UTR and
            lacks an alternate coding exon compared to variant 4. The resulting
            isoform (b) has the same N- and C-termini but is shorter compared
            to isoform a. Variants 1 and 3 both encode the same isoform (b).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.236832.1,
                                           SRR1660809.106782.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
                                                is not conserved
            MANE Ensembl match               :: ENST00000591337.7/
                                                ENSP00000467287.4
            RefSeq Select criteria           :: based on manual assertion,
                                                conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-177               AC004623.2         15042-15218
            178-303             AC004623.2         16407-16532
            304-389             AC004623.2         17092-17177
            390-460             AC004623.2         18477-18547
            461-1357            AC004623.2         20219-21115
            1358-1459           AC004623.2         22333-22434
            1460-1530           AC004623.2         24592-24662
            1531-1607           AC004623.2         26388-26464
            1608-1668           AC004623.2         27243-27303
            1669-1744           AC004623.2         29348-29423
            1745-1795           AC004623.2         29679-29729
            1796-2232           AC004623.2         30725-31161
            2233-2321           AC004623.2         33155-33243
            2322-2720           AC004623.2         36602-37000
            2721-4232           AC005329.1         527-2038
FEATURES             Location/Qualifiers
     source          1..4232
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     gene            1..4232
                     /gene="PWWP3A"
                     /gene_synonym="EXPAND1; HSPC211; MUM-1; MUM1"
                     /note="PWWP domain containing 3A, DNA repair factor"
                     /db_xref="GeneID:84939"
                     /db_xref="HGNC:HGNC:29641"
     exon            1..177
                     /gene="PWWP3A"
                     /gene_synonym="EXPAND1; HSPC211; MUM-1; MUM1"
                     /inference="alignment:Splign:2.1.0"
     exon            178..303
                     /gene="PWWP3A"
                     /gene_synonym="EXPAND1; HSPC211; MUM-1; MUM1"
                     /inference="alignment:Splign:2.1.0"
     CDS             247..2379
                     /gene="PWWP3A"
                     /gene_synonym="EXPAND1; HSPC211; MUM-1; MUM1"
                     /note="isoform b is encoded by transcript variant 3;
                     melanoma ubiquitous mutated protein; mutated
                     melanoma-associated antigen 1; PWWP domain-containing
                     protein MUM1; protein expandere; melanoma associated
                     antigen (mutated) 1; PWWP domain-containing DNA repair
                     factor 3A"
                     /codon_start=1
                     /product="PWWP domain-containing DNA repair factor 3A
                     isoform b"
                     /protein_id="NP_001356718.1"
                     /db_xref="CCDS:CCDS12062.2"
                     /db_xref="GeneID:84939"
                     /db_xref="HGNC:HGNC:29641"
                     /translation="MADAKYVLCRWEKRLWPAKVLARTATSTKNKRRKEYFLAVQILS
                     LEEKIKVKSTEVEILEKSQIEAIASSLASQNEVPAAPLEELAYRRSLRVALDVLSEGS
                     IWSQESSAGTGRADRSLRGKPMEHVSSPCDSNSSSLPRGDVLGSSRPHRRRPCVQQSL
                     SSSFTCEKDPECKVDHKKGLRKSENPRGPLVLPAGGGAQDESGSRIHHKNWTLASKRG
                     GNSAQKASLCLNGSSLSEDDTERDMGSKGGSWAAPSLPSGVREDDPCANAEGHDPGLP
                     LGSLTAPPAPEPSACSEPGECPAKKRPRLDGSQRPPAVQLEPMAAGAAPSPGPGPGPR
                     ESVTPRSTARLGPPPSHASADATRCLPCPDSQKLEKECQSSEESMGSNSMRSILEEDE
                     EDEEPPRVLLYHEPRSFEVGMLVWHKHKKYPFWPAVVKSVRQRDKKASVLYIEGHMNP
                     KMKGFTVSLKSLKHFDCKEKQTLLNQAREDFNQDIGWCVSLITDYRVRLGCGSFAGSF
                     LEYYAADISYPVRKSIQQDVLGTKLPQLSKGSPEEPVVGCPLGQRQPCRKMLPDRSRA
                     ARDRANQKLVEYIVKAKGAESHLRAILKSRKPSRWLQTFLSSSQYVTCVETYLEDEGQ
                     LDLVVKYLQGVYQEVGAKVLQRTNGDRIRFILDVLLPEAIICAISAVDEVDYKTAEEK
                     YIKGPSLSYREKEIFDNQLLEERNRRRR"
     exon            304..389
                     /gene="PWWP3A"
                     /gene_synonym="EXPAND1; HSPC211; MUM-1; MUM1"
                     /inference="alignment:Splign:2.1.0"
     exon            390..460
                     /gene="PWWP3A"
                     /gene_synonym="EXPAND1; HSPC211; MUM-1; MUM1"
                     /inference="alignment:Splign:2.1.0"
     exon            461..1357
                     /gene="PWWP3A"
                     /gene_synonym="EXPAND1; HSPC211; MUM-1; MUM1"
                     /inference="alignment:Splign:2.1.0"
     exon            1358..1459
                     /gene="PWWP3A"
                     /gene_synonym="EXPAND1; HSPC211; MUM-1; MUM1"
                     /inference="alignment:Splign:2.1.0"
     exon            1460..1530
                     /gene="PWWP3A"
                     /gene_synonym="EXPAND1; HSPC211; MUM-1; MUM1"
                     /inference="alignment:Splign:2.1.0"
     exon            1531..1607
                     /gene="PWWP3A"
                     /gene_synonym="EXPAND1; HSPC211; MUM-1; MUM1"
                     /inference="alignment:Splign:2.1.0"
     exon            1608..1668
                     /gene="PWWP3A"
                     /gene_synonym="EXPAND1; HSPC211; MUM-1; MUM1"
                     /inference="alignment:Splign:2.1.0"
     exon            1669..1744
                     /gene="PWWP3A"
                     /gene_synonym="EXPAND1; HSPC211; MUM-1; MUM1"
                     /inference="alignment:Splign:2.1.0"
     exon            1745..1795
                     /gene="PWWP3A"
                     /gene_synonym="EXPAND1; HSPC211; MUM-1; MUM1"
                     /inference="alignment:Splign:2.1.0"
     exon            1796..2232
                     /gene="PWWP3A"
                     /gene_synonym="EXPAND1; HSPC211; MUM-1; MUM1"
                     /inference="alignment:Splign:2.1.0"
     exon            2233..2321
                     /gene="PWWP3A"
                     /gene_synonym="EXPAND1; HSPC211; MUM-1; MUM1"
                     /inference="alignment:Splign:2.1.0"
     exon            2322..4232
                     /gene="PWWP3A"
                     /gene_synonym="EXPAND1; HSPC211; MUM-1; MUM1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2734..2739
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PWWP3A"
                     /gene_synonym="EXPAND1; HSPC211; MUM-1; MUM1"
                     /note="hexamer: ATTAAA"
     polyA_site      2755
                     /gene="PWWP3A"
                     /gene_synonym="EXPAND1; HSPC211; MUM-1; MUM1"
                     /note="major polyA site"
     regulatory      4214..4219
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PWWP3A"
                     /gene_synonym="EXPAND1; HSPC211; MUM-1; MUM1"
                     /note="hexamer: ATTAAA"
     polyA_site      4232
                     /gene="PWWP3A"
                     /gene_synonym="EXPAND1; HSPC211; MUM-1; MUM1"
                     /note="major polyA site"
ORIGIN      
        1 aagccccgcc cccggccccg cggggagcgg cggcggcggc ggcggcggcg gtggcggagg
       61 cggtgagcgc gggcggcgcg gacggcagcg gttggcgggc gggtcctccg ctgttgcggc
      121 cgctgcggcc tccttgcccg ggcttggggc gccgcgctgg ggaaagccgg gggcccggac
      181 acattggcgt gagacctggg agtacgttgt gccaaatcat tgccacttgc cacatgagtg
      241 taaatgatgg cggatgccaa gtatgtcctc tgccgatggg aaaagcgatt atggcctgcg
      301 aaggttttgg cccgaaccgc gacttcaaca aaaaataaga gaagaaagga atattttcta
      361 gctgtgcaaa tcctctctct agaggaaaaa attaaggtga aaagcactga agttgagatc
      421 ctagagaagt ctcaaattga agccattgct tcctcgttag cctcacagaa tgaggttcct
      481 gcggcacccc tggaagaact ggcctacaga cggtcgcttc gcgtggctct ggacgttctg
      541 agcgagggct cgatttggag tcaagaaagc tctgcaggga caggtagagc tgaccggtct
      601 ctgcgaggga agcccatgga gcatgtctcc tcgccctgtg attcgaactc ctcatctctt
      661 ccccgcggag acgtgttggg cagttccaga cctcacagga ggaggccatg tgtgcaacaa
      721 agcctgtcaa gttcgttcac ttgtgaaaag gaccccgagt gcaaagtgga ccacaagaag
      781 gggctcagga aaagtgaaaa cccaagaggc ccgttggtcc tcccagctgg aggtggtgcc
      841 caagatgaga gtgggtccag aatccaccac aaaaattgga ctcttgcaag taagagggga
      901 ggaaactcag cgcagaaggc tagcttgtgc ctgaatggat cttccctttc agaggacgac
      961 acggagagag acatggggag caaaggaggc agctgggcag ccccgtcctt gccctccggg
     1021 gtcagggagg acgatccctg tgccaacgct gagggacacg accccggtct gccgttgggc
     1081 agcctcactg cgcccccagc ccctgagccc tcggcctgct cagagcctgg agaatgccct
     1141 gcgaaaaaga ggccgcgcct ggatggcagc caaaggccgc ctgccgtgca gctggagccc
     1201 atggcagcag gggccgcacc atcccccggg ccggggccag ggcccagaga gtctgtgacc
     1261 ccgcgcagca ccgccaggct gggcccgcct ccctcccacg cctctgcgga tgcaaccaga
     1321 tgtcttcctt gcccggattc ccagaagctg gagaaagagt gccagtcttc cgaagagtcc
     1381 atggggtcta attccatgcg ttctatcctg gaggaagacg aggaagacga ggagccacca
     1441 agagtccttt tataccacga accacgttcg tttgaagtag gaatgctagt ctggcataaa
     1501 cataaaaaat accccttctg gccagcagtg gtcaaaagcg tcaggcagag agataagaaa
     1561 gcaagtgtgc tatacatcga aggacacatg aacccgaaaa tgaaaggttt cacagtgtct
     1621 cttaaaagtt taaagcactt tgattgtaaa gagaaacaga cgcttctgaa tcaagccagg
     1681 gaggacttca accaggacat cggctggtgt gtctccctca tcaccgacta cagggtccgg
     1741 ttaggctgcg ggtcttttgc tggctctttc ctggaatatt acgcggctga tataagctat
     1801 cctgtccgaa aatccatcca gcaggacgtc ttggggacca agcttcctca actgagcaag
     1861 gggagccccg aggagcccgt ggtggggtgc cccctggggc agaggcagcc ctgccggaaa
     1921 atgctccccg accgctcgcg ggccgcccgg gaccgggcca accagaagct ggtggagtac
     1981 attgtgaagg ccaagggcgc ggagagccac ctgcgggcca tcctaaagag caggaagcca
     2041 tctcgctggc tgcagacctt cctgagctcc agccagtacg tgacctgtgt ggagacctac
     2101 ctggaggatg aggggcagct ggacctggtg gtgaagtacc tgcagggcgt ctaccaggag
     2161 gtgggggcca aggtgctcca gcgcaccaac ggcgaccgga tccggttcat tctggacgtg
     2221 cttctgcccg aggccatcat ctgtgcgatc tctgcggtgg acgaggtgga ctacaagacg
     2281 gctgaggaga agtacatcaa ggggccttcg ctgagctacc gggaaaaaga aatatttgac
     2341 aaccagctcc ttgaagagcg gaaccggcgc cgtcggtgag ggagcagccg gctgtgctgt
     2401 cagcggggcc tggcggtgga agcgcctcca gtgtgcatga gcgtgtctga agatgggggg
     2461 ctcagggggc acgtttgcgt ttggacctgt ctgtgcgttc tcctgcgtgg cagtcctgat
     2521 ttccatgctt ctggagaatc catttcgtta acactgaaag ccagttctct tttcctggca
     2581 gtttttttca ttttattttt ggcatttttt acaagatacc gttcgggaaa ggcttttgaa
     2641 aggacggaag cgtattcact gtgcgccagt actcctggct gtgctgtggt ttctcccgac
     2701 gtgcacatcg atctcgtatg tgtggcatct gatattaaac gggaggtttt aagaagcgtc
     2761 tgccgtgatc atggagcttc ggaagcggga atggttcttc cgggtttgct gttttgtctg
     2821 tttccccctt gtgtggtttc cgcctgcgac agttccagaa tttgctctcc cactcagtgt
     2881 gctctgcagc tgtgaggaaa cagccttcgt tagaggcggg agcagagacg agccgctgct
     2941 ctgtgtcgtg tttgctgtgg ccgcagggag aggagcagga cacgcacctt tccaggggcc
     3001 tctgtgtccc gcactgtgtg tgagtggacc gcagcgcgca gccacatgcc ctggctgcca
     3061 tgggccagac cgcctccacc tcccccgccc gcctggcctg tcctgagtgc atttccctgc
     3121 actgtgtcgt cactgcacag ccagtcaccg cggtctcagt catcggcgcg gatggctatg
     3181 ctggggtccc agggtggccg cagcagtcag ggtcactgtg ggagccctgg ggtggagtga
     3241 caaaccgcat tgtcctgtgc ccgccatggc agaagcgcag cctttgtatg gaggcccaac
     3301 cgcgctcccg tctggagaag cggcttccgg ggtgtggctg ccgggtcggc tctggtccac
     3361 agcacggtgc cggggctgca ggttgttgag ggctgtgact ccgtggggct cagccaggct
     3421 ccagcagggt cagacgtgct gttaagagca aagccacaga cgatgacttg tccattctca
     3481 gtggatgctc caggctgtgc ctacacagca gtgctggtga catgtccagg gttccagggc
     3541 ccggtggcct gggagctgct ttctccccac tggctgggct gcatctggcc ctggctggag
     3601 gccttgcttt gaggggctgt gaccctcttc ccccaggccc tccccagccg acgacagcca
     3661 ccggagagga gatcggaaca cgattgtctc agatgcaggg cgctgtgcgg gacgaagccg
     3721 caaggactct cgtatcgggc ccttgggact cgggaggtgc cagaggcggc ggctgctctg
     3781 gacctcggtg ttcactgacc tttgtttcac ttgcctctgc tcgactccga gagcaggaaa
     3841 cccggccgtg gcctggcagc tccgcctccc atgcccgcac gctggggtct gtcttgtctg
     3901 gagcagtggg gcacaccccg gaggaggcgg gggtcagggc tgtcggcctt ggccccctgc
     3961 tggtcgctgt ttcggggact cggggcggcc agtaccaccg cctgaggcgg ggctcagcag
     4021 cgttgcatgt acgggcctcg tactgcctca tggaaaatcc tccggagccg ccctccattg
     4081 tgggttcctg agagtaggac acattgccat ggttttgtgg gaatcacgcg cccctgatgg
     4141 aacttttctg ctgttgtgaa gtacttttat ccatttgctt ctctgctgac cttgccaagt
     4201 tgttcgaggt ggaattaaac acctcccaga cc
//
