LOCUS       NM_001174070            2848 bp    mRNA    linear   PRI 11-JUN-2024
DEFINITION  Homo sapiens family with sequence similarity 53 member A (FAM53A),
            transcript variant 2, mRNA.
ACCESSION   NM_001174070
VERSION     NM_001174070.3
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 2848)
  AUTHORS   Fagerholm,R., Khan,S., Schmidt,M.K., Garcia-Closas,M., Heikkila,P.,
            Saarela,J., Beesley,J., Jamshidi,M., Aittomaki,K., Liu,J.,
            Ali,H.R., Andrulis,I.L., Beckmann,M.W., Behrens,S., Blows,F.M.,
            Brenner,H., Chang-Claude,J., Couch,F.J., Czene,K., Fasching,P.A.,
            Figueroa,J., Floris,G., Glendon,G., Guo,Q., Hall,P., Hallberg,E.,
            Hamann,U., Holleczek,B., Hooning,M.J., Hopper,J.L., Jager,A.,
            Kabisch,M., Keeman,R., Kosma,V.M., Lambrechts,D., Lindblom,A.,
            Mannermaa,A., Margolin,S., Provenzano,E., Shah,M., Southey,M.C.,
            Dennis,J., Lush,M., Michailidou,K., Wang,Q., Bolla,M.K.,
            Dunning,A.M., Easton,D.F., Pharoah,P.D., Chenevix-Trench,G.,
            Blomqvist,C. and Nevanlinna,H.
  CONSRTM   kConFab/AOCS Investigators
  TITLE     TP53-based interaction analysis identifies cis-eQTL variants for
            TP53BP2, FBXO28, and FAM53A that associate with survival and
            treatment outcome in breast cancer
  JOURNAL   Oncotarget 8 (11), 18381-18398 (2017)
   PUBMED   28179588
  REMARK    GeneRIF: Expression levels of TP53BP2, FBXO28, and FAM53A genes
            were associated with patient survival specifically in ER-positive,
            TP53-mutated tumors.
REFERENCE   2  (bases 1 to 2848)
  AUTHORS   Girard,A., Sachidanandam,R., Hannon,G.J. and Carmell,M.A.
  TITLE     A germline-specific class of small RNAs binds mammalian Piwi
            proteins
  JOURNAL   Nature 442 (7099), 199-202 (2006)
   PUBMED   16751776
REFERENCE   3  (bases 1 to 2848)
  AUTHORS   Jun,L., Balboni,A.L., Laitman,J.T. and Bergemann,A.D.
  TITLE     Isolation of DNTNP, which encodes a potential nuclear protein that
            is expressed in the developing, dorsal neural tube
  JOURNAL   Dev Dyn 224 (1), 116-123 (2002)
   PUBMED   11984880
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            HY040719.1, BC070112.1 and AC147067.4.
            
            On Aug 13, 2020 this sequence version replaced NM_001174070.2.
            
            Transcript Variant: This variant (2) differs in the 5' UTR,
            compared to variant 1. Both variants 1 and 2 encode the same
            isoform (1).
            
            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 :: SRR14038192.1943434.1,
                                           SRR14038194.508810.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1966682,
                                           SAMEA1968540 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000308132.11/ ENSP00000310057.6
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-81                HY040719.1         1-81
            82-1656             BC070112.1         35-1609
            1657-2848           AC147067.4         146796-147987       c
FEATURES             Location/Qualifiers
     source          1..2848
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p16.3"
     gene            1..2848
                     /gene="FAM53A"
                     /gene_synonym="DNTNP"
                     /note="family with sequence similarity 53 member A"
                     /db_xref="GeneID:152877"
                     /db_xref="HGNC:HGNC:31860"
                     /db_xref="MIM:617229"
     exon            1..81
                     /gene="FAM53A"
                     /gene_synonym="DNTNP"
                     /inference="alignment:Splign:2.1.0"
     exon            82..320
                     /gene="FAM53A"
                     /gene_synonym="DNTNP"
                     /inference="alignment:Splign:2.1.0"
     CDS             246..1442
                     /gene="FAM53A"
                     /gene_synonym="DNTNP"
                     /note="isoform 1 is encoded by transcript variant 2;
                     dorsal neural-tube nuclear protein; protein FAM53A"
                     /codon_start=1
                     /product="protein FAM53A isoform 1"
                     /protein_id="NP_001167541.1"
                     /db_xref="CCDS:CCDS33939.1"
                     /db_xref="GeneID:152877"
                     /db_xref="HGNC:HGNC:31860"
                     /db_xref="MIM:617229"
                     /translation="MVTLITEKLQSQSLDDLTCKAEAGPLQYSAETLNKSGRLFPLEL
                     NDQSPWKVFSGGPPVRSQAATGPDFSFLPGLSAAAHTMGLQWQPQSPRPGAGLGAAST
                     VDPSESTGSSTAPPTKRHCRSLSEPEELVRCRSPWRPGSSKVWTPVSKRRCDSGGSAT
                     RQGSPGAVLPRSAVWSTGPTSPATPRPSSASGGFVDSSEGSAGSGPLWCSAESCLPST
                     RRRPSLSQERLAGAGTPLPWASSSPTSTPALGGRRGLLRCRSQPCVLSGKRSRRKRRR
                     EEDARWTRPSLDFLKMTQTLKNSKSLCSLNYEDDDEDDTPVKTVLSSPCDSRGLPGIT
                     MPGCSQRGLRTSPVHPNLWASRESVTSDGSRRSSGDPRDGDSVGEEGVFPRARWELDL
                     EQIENN"
     exon            321..381
                     /gene="FAM53A"
                     /gene_synonym="DNTNP"
                     /inference="alignment:Splign:2.1.0"
     exon            382..1127
                     /gene="FAM53A"
                     /gene_synonym="DNTNP"
                     /inference="alignment:Splign:2.1.0"
     exon            1128..2848
                     /gene="FAM53A"
                     /gene_synonym="DNTNP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2250..2255
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAM53A"
                     /gene_synonym="DNTNP"
                     /note="hexamer: ATTAAA"
     polyA_site      2273
                     /gene="FAM53A"
                     /gene_synonym="DNTNP"
                     /note="major polyA site"
     regulatory      2658..2663
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAM53A"
                     /gene_synonym="DNTNP"
                     /note="hexamer: AATACA"
     polyA_site      2679
                     /gene="FAM53A"
                     /gene_synonym="DNTNP"
     regulatory      2806..2811
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FAM53A"
                     /gene_synonym="DNTNP"
                     /note="hexamer: AATAAA"
     polyA_site      2848
                     /gene="FAM53A"
                     /gene_synonym="DNTNP"
ORIGIN      
        1 ggctgaggcg cgtcgccctg agcgagcggg gcctgggcgg ccggcagtct tctcgctccg
       61 cacccccgcg gccgcgctca ggcacaaatc ctgaagagcc cgtgggcgtg gactgctcat
      121 ctgtaaagaa agtggagaca tgaccttgag atttggctga cccagcaatg ctggggcctt
      181 cgcaagtctg atgttccagg actccagtgc ctgttggtgt ggacggagga cacggggccc
      241 cgaccatggt cacactcatc actgagaagc tgcagagcca gagcctggac gacctcacct
      301 gcaaggcgga ggctggcccg ttgcagtatt ctgcggaaac cctgaacaag agcggtcgtc
      361 tgttcccttt ggagctcaac gaccagagtc cctggaaggt cttcagtgga ggaccgcccg
      421 tcagaagcca ggcagccacg ggccctgatt tctccttcct gccgggcctg tctgctgccg
      481 ctcacaccat gggtcttcag tggcagccac agtccccgcg cccaggcgca ggcctgggtg
      541 cagccagcac cgtggacccc agtgaaagca caggctcgtc cacggcccca ccgaccaagc
      601 ggcattgccg gtccttgtca gaacccgagg agcttgtgcg ctgccggtcc ccctggcgcc
      661 ccggcagctc caaggtctgg actccagtct ccaagaggcg gtgcgacagc ggcgggagtg
      721 ccacgcggca gggaagcccc ggcgccgtcc tgccgaggag tgctgtgtgg tcgaccggtc
      781 ccacctcgcc cgccacgccc cggccgtcct ccgccagcgg cggcttcgtg gacagcagcg
      841 agggcagtgc gggctcaggc ccgctctggt gttccgcgga gtcctgcttg ccctccacga
      901 ggcgccgccc gtccctctca caggagcgac tcgcgggtgc gggcactccc ctgccctggg
      961 ccagcagcag ccccacgtcc acgcctgcgc tgggcgggcg ccgtgggctg ctccggtgcc
     1021 gctcacagcc ttgcgtgctc agtgggaaga ggagccggcg caaacggagg cgtgaggagg
     1081 acgccaggtg gacacgccca tccttggact tcctgaaaat gacccagact ttaaaaaatt
     1141 caaaaagcct ttgctccctc aattacgaag atgacgatga ggatgacacc ccagtgaaga
     1201 cggttctgtc ctccccatgt gactcccggg gcctccctgg catcaccatg cctggctgca
     1261 gccagagggg cctcaggacc agccctgtcc accccaacct gtgggcctct agggagtcgg
     1321 tgaccagtga tggctcccgc aggagcagcg gggacccccg tgatggggac agtgtcgggg
     1381 aggagggcgt cttcccccgg gcccgctggg agctggacct ggagcagatc gagaacaact
     1441 gaggctggtg ggggctggtc ggggccatgg ctgccgcctg cacctgccct ggggcacaga
     1501 gtaggtttcc tgtgagctgg tcggggccac ggcccggcac ctgccctggg gcacagagta
     1561 ggtttcctgt gagctggtcg gggccacggc tgccgccggc acctgccctg gggcacagag
     1621 taggtttcct gtgagctggt cggggccacg gctgccgccg gcacctgccc tggggcacag
     1681 agtaggtttc ctgtgagctg gtcggggcca cggctgccac cggcacctgc cctggggcac
     1741 agagtaggtt tcctgtgagc tggtcggggc cacggctgcc gcctgcactg ccctggggca
     1801 cagactaggt ttcctgtgag ctggtcgggg ccatggctgc tgcctgcacc tgccccaggg
     1861 cacagagtag gtttcctgtg agctggtcgg ggccatggct gccgcctgca cctgccccgg
     1921 ggcacagagt aggtttcctg tgagctggtc ggggccatgg ctgccaccgg cacctgccct
     1981 ggggcacaga gtaggtttcc tgtgagttgg tcggggccac ggctgccgcc tgcactgccc
     2041 tggggcacag actaggtttc atgtgagctg gtcggggcca tggctgctgc cggcacctgc
     2101 cctggggcac agagtaggtt tcgtgttgct tggaacatta aggcgtaatt ttgattcagt
     2161 ttttcctaaa gaagcatttt gcatttttat ggcttttgca gttcgggaga aagcttctct
     2221 attttggatg catttcagaa gggcgttcta ttaaacatga atctgcaaac agattaacat
     2281 gcgtctgtgt tccccacgaa aggcctgctg tgcagggcgc cttgtgtgct ttagttgcta
     2341 ggaaaccccg ggcgttggtg gtcagagtcc cactggcccc gtgtgtcccc ccctcccgac
     2401 gggtcacggt gcttggggct tgcgcatggg catctgtgcc catgaacctt gtcacccacg
     2461 tgccagtgaa ccgccagctt gtggccgcct ggttttccac cggtggcagt gatggccttt
     2521 ggggcagacc aaggtgccat gagtccctgc ttcccgtggc ctgggagggc ccttgcacct
     2581 tcaggtgggg tgtagtgcca gacctctggg aaggctgtcc tgccggcagc acccgtcagc
     2641 acccactctg tgaatttaat acaaggcctt tgctttgtgc atacgacttc tgattaattt
     2701 tcgtttccac catctgaagt gggcctggct gcgcctcagg cctctggtct ctggctcaga
     2761 accagacaag gcaagggatt tcctgttttt cattcttgca cttttaataa aatcgtaggg
     2821 gtttcgagtt tgcgatagca aaagaaaa
//
