LOCUS       NM_182922               4416 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens HEAT repeat containing 3 (HEATR3), transcript variant
            1, mRNA.
ACCESSION   NM_182922
VERSION     NM_182922.4
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 4416)
  AUTHORS   Dou,X., Ma,X., Meng,W., Zhang,W., Yang,S., Niu,F., Xiong,Y. and
            Jin,T.
  TITLE     HEATR3 involved in the cell proliferation, metastasis and cell
            cycle development of bladder cancer acts as a tumor suppressor
  JOURNAL   Mol Genet Genomics 298 (6), 1353-1364 (2023)
   PUBMED   37518364
  REMARK    GeneRIF: HEATR3 involved in the cell proliferation, metastasis and
            cell cycle development of bladder cancer acts as a tumor
            suppressor.
REFERENCE   2  (bases 1 to 4416)
  AUTHORS   O'Donohue,M.F., Da Costa,L., Lezzerini,M., Unal,S., Joret,C.,
            Bartels,M., Brilstra,E., Scheijde-Vermeulen,M., Wacheul,L., De
            Keersmaecker,K., Vereecke,S., Labarque,V., Saby,M., Lefevre,S.D.,
            Platon,J., Montel-Lehry,N., Laugero,N., Lacazette,E., van
            Gassen,K., Houtkooper,R.H., Simsek-Kiper,P.O., Leblanc,T.,
            Yarali,N., Cetinkaya,A., Akarsu,N.A., Gleizes,P.E.,
            Lafontaine,D.L.J. and MacInnes,A.W.
  TITLE     HEATR3 variants impair nuclear import of uL18 (RPL5) and drive
            Diamond-Blackfan anemia
  JOURNAL   Blood 139 (21), 3111-3126 (2022)
   PUBMED   35213692
  REMARK    GeneRIF: HEATR3 variants impair nuclear import of uL18 (RPL5) and
            drive Diamond-Blackfan anemia.
REFERENCE   3  (bases 1 to 4416)
  AUTHORS   Jia,X., Liu,P., Zhang,M., Feng,T., Tang,H., Tang,Z., Zhao,H. and
            Jin,T.
  TITLE     Genetic variants at 6p21, 10q23, 16q21 and 22q12 are associated
            with esophageal cancer risk in a Chinese Han population
  JOURNAL   Int J Clin Exp Med 8 (10), 19381-19387 (2015)
   PUBMED   26770579
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4416)
  AUTHORS   Calvino,F.R., Kharde,S., Ori,A., Hendricks,A., Wild,K.,
            Kressler,D., Bange,G., Hurt,E., Beck,M. and Sinning,I.
  TITLE     Symportin 1 chaperones 5S RNP assembly during ribosome biogenesis
            by occupying an essential rRNA-binding site
  JOURNAL   Nat Commun 6, 6510 (2015)
   PUBMED   25849277
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4416)
  AUTHORS   Zhang,W., Hui,K.Y., Gusev,A., Warner,N., Ng,S.M., Ferguson,J.,
            Choi,M., Burberry,A., Abraham,C., Mayer,L., Desnick,R.J.,
            Cardinale,C.J., Hakonarson,H., Waterman,M., Chowers,Y., Karban,A.,
            Brant,S.R., Silverberg,M.S., Gregersen,P.K., Katz,S., Lifton,R.P.,
            Zhao,H., Nunez,G., Pe'er,I., Peter,I. and Cho,J.H.
  TITLE     Extended haplotype association study in Crohn's disease identifies
            a novel, Ashkenazi Jewish-specific missense mutation in the
            NF-kappaB pathway gene, HEATR3
  JOURNAL   Genes Immun 14 (5), 310-316 (2013)
   PUBMED   23615072
  REMARK    GeneRIF: Data indicate that HEATR3 plays a positive role in
            NOD2-mediated NF-kappaB signaling.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC007610.10.
            
            On Nov 23, 2018 this sequence version replaced NM_182922.3.
            
            Summary: The protein encoded by this gene plays a role in ribosomal
            protein transport and in the assembly of the 5S ribonucleoprotein
            particle (5S RNP). The encoded protein also may be involved in
            NOD2-mediated NF-kappaB signaling. [provided by RefSeq, Jul 2016].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (a).
            
            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 :: BC018730.1, SRR1803617.172137.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000299192.8/ ENSP00000299192.7
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-300               AC007610.10        142775-143074       c
            301-473             AC007610.10        142505-142677       c
            474-561             AC007610.10        140177-140264       c
            562-674             AC007610.10        138754-138866       c
            675-784             AC007610.10        136330-136439       c
            785-925             AC007610.10        133333-133473       c
            926-1203            AC007610.10        130026-130303       c
            1204-1294           AC007610.10        125017-125107       c
            1295-1452           AC007610.10        124753-124910       c
            1453-1535           AC007610.10        124393-124475       c
            1536-1672           AC007610.10        122693-122829       c
            1673-1761           AC007610.10        114251-114339       c
            1762-1905           AC007610.10        108671-108814       c
            1906-2082           AC007610.10        106609-106785       c
            2083-4416           AC007610.10        101772-104105       c
FEATURES             Location/Qualifiers
     source          1..4416
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q12.1"
     gene            1..4416
                     /gene="HEATR3"
                     /gene_synonym="DBA21; hsSyo1; SYO1"
                     /note="HEAT repeat containing 3"
                     /db_xref="GeneID:55027"
                     /db_xref="HGNC:HGNC:26087"
                     /db_xref="MIM:614951"
     exon            1..300
                     /gene="HEATR3"
                     /gene_synonym="DBA21; hsSyo1; SYO1"
                     /inference="alignment:Splign:2.1.0"
     CDS             163..2205
                     /gene="HEATR3"
                     /gene_synonym="DBA21; hsSyo1; SYO1"
                     /note="isoform a is encoded by transcript variant 1; HEAT
                     repeat-containing protein 3; symportin 1; symportin Syo1"
                     /codon_start=1
                     /product="HEAT repeat-containing protein 3 isoform a"
                     /protein_id="NP_891552.1"
                     /db_xref="CCDS:CCDS10739.1"
                     /db_xref="GeneID:55027"
                     /db_xref="HGNC:HGNC:26087"
                     /db_xref="MIM:614951"
                     /translation="MGKSRTKRFKRPQFSPTGDCQAEAAAAANGTGGEEDDGPAAELL
                     EKLQHPSAEVRECACAGLARLVQQRPALPGLARRDAVRRLGPLLLDPSLAVRETAAGA
                     LRNLSACGGFEVCDDMVTKDIMTPLVALLKECSAGLDSNEMSLQEKKDQNRNSIENIA
                     NETVNVLWNICECSSRAVSIFNKEGCLEIVLKYLSRFPTNVDLAISVAYCLQTVTEDN
                     PELLKSFSATALNMLESALLSPVSSMESLLLKTLVAGTIWNLKDIIPCKSQAEIINAL
                     LKILSEVLGMDAGEMVIQMKEAETQRLKTAAEAEEILENTNGDDLIEDDEMEGISHKR
                     RVRRKTFVSDLLPPTDKELRETIALLTAQQTALEIIVNMCCNEDPSDDEWEELSSSDE
                     SDAFMENSFSECGGQLFSPLCLSHEVHTALTNYLIPKKIFEKTAFPNSIAVDLCSRNP
                     TWKPLIRKMNTIQCRALFCLQSLVSLLDVEHLGGAAALQTLAQHLSQLLFSQPDFAKH
                     VDFLEAISSALRALLQTMASKNISQCMTPDQLMTLCKAGIHSSNVGVRVNVVSILGIT
                     GSVLAKEDGTLETLKNIGCFLLEVTTKDPSLVVAGEALDALFDVFADGKEAERASIQI
                     KLLSALKEFQPVFKMKIRKEGRGNYSTDQLCVLDNVKMNLRRFIAYQETVEKRLTS"
     exon            301..473
                     /gene="HEATR3"
                     /gene_synonym="DBA21; hsSyo1; SYO1"
                     /inference="alignment:Splign:2.1.0"
     exon            474..561
                     /gene="HEATR3"
                     /gene_synonym="DBA21; hsSyo1; SYO1"
                     /inference="alignment:Splign:2.1.0"
     exon            562..674
                     /gene="HEATR3"
                     /gene_synonym="DBA21; hsSyo1; SYO1"
                     /inference="alignment:Splign:2.1.0"
     exon            675..784
                     /gene="HEATR3"
                     /gene_synonym="DBA21; hsSyo1; SYO1"
                     /inference="alignment:Splign:2.1.0"
     exon            785..925
                     /gene="HEATR3"
                     /gene_synonym="DBA21; hsSyo1; SYO1"
                     /inference="alignment:Splign:2.1.0"
     exon            926..1203
                     /gene="HEATR3"
                     /gene_synonym="DBA21; hsSyo1; SYO1"
                     /inference="alignment:Splign:2.1.0"
     exon            1204..1294
                     /gene="HEATR3"
                     /gene_synonym="DBA21; hsSyo1; SYO1"
                     /inference="alignment:Splign:2.1.0"
     exon            1295..1452
                     /gene="HEATR3"
                     /gene_synonym="DBA21; hsSyo1; SYO1"
                     /inference="alignment:Splign:2.1.0"
     exon            1453..1535
                     /gene="HEATR3"
                     /gene_synonym="DBA21; hsSyo1; SYO1"
                     /inference="alignment:Splign:2.1.0"
     exon            1536..1672
                     /gene="HEATR3"
                     /gene_synonym="DBA21; hsSyo1; SYO1"
                     /inference="alignment:Splign:2.1.0"
     exon            1673..1761
                     /gene="HEATR3"
                     /gene_synonym="DBA21; hsSyo1; SYO1"
                     /inference="alignment:Splign:2.1.0"
     exon            1762..1905
                     /gene="HEATR3"
                     /gene_synonym="DBA21; hsSyo1; SYO1"
                     /inference="alignment:Splign:2.1.0"
     exon            1906..2082
                     /gene="HEATR3"
                     /gene_synonym="DBA21; hsSyo1; SYO1"
                     /inference="alignment:Splign:2.1.0"
     exon            2083..4416
                     /gene="HEATR3"
                     /gene_synonym="DBA21; hsSyo1; SYO1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3509..3514
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HEATR3"
                     /gene_synonym="DBA21; hsSyo1; SYO1"
                     /note="hexamer: AATAAA"
     polyA_site      3531
                     /gene="HEATR3"
                     /gene_synonym="DBA21; hsSyo1; SYO1"
                     /note="major polyA site"
     regulatory      3567..3572
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HEATR3"
                     /gene_synonym="DBA21; hsSyo1; SYO1"
                     /note="hexamer: AATAAA"
     polyA_site      3592
                     /gene="HEATR3"
                     /gene_synonym="DBA21; hsSyo1; SYO1"
     regulatory      3653..3658
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HEATR3"
                     /gene_synonym="DBA21; hsSyo1; SYO1"
                     /note="hexamer: ATTAAA"
     polyA_site      3673
                     /gene="HEATR3"
                     /gene_synonym="DBA21; hsSyo1; SYO1"
     regulatory      4392..4397
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HEATR3"
                     /gene_synonym="DBA21; hsSyo1; SYO1"
                     /note="hexamer: AATAAA"
     polyA_site      4416
                     /gene="HEATR3"
                     /gene_synonym="DBA21; hsSyo1; SYO1"
ORIGIN      
        1 agacgacgcg ccgtgcgcct gcgcacggct tgcccatgtg tgctgcagcc gtcagccggc
       61 ccagctgagc agcagcaacg gaccttgtta acggcgcggc agcctccacc gcctgctgtt
      121 gccctcctct ctcggtggtc tgtccgccca gcgcacgtca ccatgggcaa gagccggacg
      181 aagcgcttca agcgacctca gttctcccct acgggcgact gtcaggccga ggcggctgcg
      241 gcggcgaatg ggaccggagg cgaggaggac gacgggccgg cggcggagct gctggaaaag
      301 ctccagcacc cgagcgccga ggtccgcgag tgcgcctgcg cagggctggc ccggctggtg
      361 cagcagcggc cggcactccc gggcctggcg cgacgagacg ccgtgcgccg cctcgggccg
      421 ctgctgctag accccagcct ggccgtcagg gagactgcag ccggcgcgct gagaaatctc
      481 agtgcttgtg gaggttttga agtttgtgat gacatggtga ctaaggatat catgacccct
      541 ctggttgcgc tgctaaaaga gtgtagtgct ggactggatt caaatgagat gtctctgcag
      601 gagaaaaaag atcagaacag aaattctatt gagaacatag ccaatgagac tgtgaacgtg
      661 ctgtggaata tatgtgaatg cagtagtaga gcagtgtcta tattcaacaa agaagggtgt
      721 ttggagattg tgttaaagta tttaagtagg tttcctacca atgttgacct ggctatttca
      781 gtagcatatt gtttgcagac agtgactgag gataacccag agctgctgaa gtctttcagt
      841 gctacagcat tgaacatgct ggaatcagca ctgctttctc ctgtcagttc catggaatct
      901 cttctattga agacattggt agcaggcaca atttggaatc taaaggacat tattccatgc
      961 aagagtcaag cagaaatcat aaatgcctta ctaaagatct tatctgaagt tttgggaatg
     1021 gatgctggtg aaatggttat tcaaatgaaa gaggctgaaa cgcaaaggtt aaaaactgct
     1081 gcagaggctg aggaaatatt agagaacact aatggggatg atttgattga agatgatgaa
     1141 atggaaggaa tttctcataa aagaagagtc agaaggaaaa ctttcgtttc agatttactt
     1201 ccgcccactg acaaggaact gagagagact atagcattgc tgacagccca acagactgct
     1261 ctggaaatta ttgtcaacat gtgctgcaat gaagatccct ctgatgacga atgggaagag
     1321 ctttctagca gtgatgaaag tgacgcattt atggagaatt ccttcagtga gtgcggggga
     1381 cagctgtttt ctcccctctg cctctcccat gaagttcaca cggctctcac caactacctc
     1441 atcccaaaga agatttttga gaaaactgcc tttccaaaca gcattgcagt tgacctatgt
     1501 tctaggaacc ctacttggaa acctttgatt agaaaaatga acactattca gtgcagagcc
     1561 ctcttctgtc tccagagtct tgtgtccctc ctggatgtgg agcacctggg aggagccgca
     1621 gcccttcaga cgcttgcaca gcatctgtca cagctgcttt tttctcaacc agattttgct
     1681 aaacatgttg actttctaga agccataagt agtgctttga gggccctttt gcaaacaatg
     1741 gcctccaaga acatttccca gtgcatgact cctgatcagc tgatgacatt atgcaaagca
     1801 ggcattcata gtagtaatgt cggggttaga gtgaatgtcg ttagcatttt aggaatcact
     1861 ggcagcgtcc ttgccaaaga agatggtaca cttgaaactc ttaagaacat tgggtgcttt
     1921 ctgcttgaag ttaccaccaa agatccttcc cttgtggtag caggagaagc tttggatgcc
     1981 ctctttgatg tttttgcaga tggtaaagaa gccgaaagag cctcgattca aattaaatta
     2041 ttatctgctc tgaaagaatt ccagccggtc tttaaaatga agatacgtaa agaagggaga
     2101 ggtaactata gcacagatca gctgtgtgtt cttgacaatg tgaaaatgaa tttgcgaaga
     2161 tttattgctt atcaagaaac tgttgagaaa agactgactt cttaaacaat ccaaaaaaga
     2221 aaccagttct tcccccaaag tattcaatgc ttagaatact aaaaggtttt ctttgaatgt
     2281 atatgtttct gaaagtcatt ttttaatgat tacattctgt acattctgta aaaacttcaa
     2341 aacctggcca ggcatggtgg ctcacgccta taatcccagc accttgggag accgaggcgg
     2401 gtggatcact tgaggtcagg agtttgaggc cagcctggcc aacatggtga aaccgcatgc
     2461 ataagcatgg tggcacatgc ctgtgatccc agctactcgg gaggctgagg gaggagagtc
     2521 ggttgaacct gggagacaga ggttgcagtg agctgagatc acgctactgc actccagcct
     2581 gggtgacaga gggagaccct gtctccaaaa aaaaaaaaaa aaaaaaactt caaaacctgt
     2641 cagaaactct gttgctggtt tttttgtgtg tgtgttttgt ttgtttgttt tgttttgttg
     2701 tttttttctt ttttgagatg gagtctcact gctgcccagg ctgtattaca gtgctgcgat
     2761 cttggcttac tgcaacctct gccattccag gttcaagcga ttctcatgcc tcagcctcct
     2821 gagtagctgg aattacaggc acccaccacc acaccttgtt tttgtttttg gttttttggt
     2881 ttgttttttt ttttcagtag agacgggttt caccgtgttg gccaggctgg tctcaaattc
     2941 ctgacctcaa gtgatccgcc tgccctggcc tcccaaagtg ctgggattac aggcatgagc
     3001 caccgtgcct ggccagaaac tcttttttaa gtgatgagat ctgtgtggca tttctagcgc
     3061 tctctaaatt atgtctctgg catattttaa tcactggaaa ctcaaagagt ggaagagtgg
     3121 aagtgcgaag gaatctcagg tagctcttaa ctaattcgcc agcagtgaag aaacttcaac
     3181 caatcatgtt ttccttgaat tttgcaaaga aagaaaatcc aaagcattgc ttggatgttc
     3241 ttttaaggca ttttatatca gttgaacctt aaactgaaat atgaagacaa gctttataaa
     3301 ctagtttttt gatatgaagt atatcaatta tgtttgcctt ttgtgaagaa gtaaatgagt
     3361 tgaatttcta tttcacttac tagattatac taatgagcta atggggtcat tgccatcctc
     3421 cctactcatg actttgatga gttattgctg taacatcact tcttgattta atttgatatg
     3481 gaatcagaat tgggagaagg tatttttaaa taaacaactt tttaatggaa agttttgtgt
     3541 cttacaaaat cttttttaag ataccaaata aagggttatt agtagaaaat gagatgatac
     3601 tattcgtgga tatttgtttg ctaatgcata ttgcttggaa tatatgtgag acattaaaaa
     3661 aatgacagca cgactttgca gcattacctc tcagtgtctt cgaagtacta ggtgacagct
     3721 ggggctcgag ggagtttccc tgtgcatcat tgtctcggct gggcctctga accggcttca
     3781 ttgtccatcc gtttgcctga tgagaaggga aatttgaaaa tttctgtaca gttgatctca
     3841 gttgccctga caaaaggccc aatccccagt acaggactta attttaattc actgcttcca
     3901 cagcagcaca aaatgagcta gtagtgttag atttcatctg cactgtgatg tattttacag
     3961 ttttcaccta tatgatatag actgttggga aaccaagatt gtttcccagc cctaagagtt
     4021 cctagcccat ggcaccaagt aaaataaccc aaattgtgta tatggtggga aaacagaaat
     4081 gtataccata tacaacacct cgctttatta tggtccttgc tcatgaattt taaggtatat
     4141 atgtatgttt agtgatcatt tcagctaaat gattggccca agcatgtctc cttggagaac
     4201 gactcttcca aaaaagaaag tattagagtt ctctctgcct caattattta taaaatataa
     4261 ttattttcaa ggagaaaaaa gttcctcatt ctgtttattc ttccccacag tttctgacct
     4321 ataaacaata tccaggatat ttagcacagg acctagtata tagtcgactc ttcataaata
     4381 tttgttgagt aaataaatgc tggtgatttt ctcgtt
//
