LOCUS       NP_891552                680 aa            linear   PRI 27-APR-2025
DEFINITION  HEAT repeat-containing protein 3 isoform a [Homo sapiens].
ACCESSION   NP_891552
VERSION     NP_891552.1
DBSOURCE    REFSEQ: accession 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  (residues 1 to 680)
  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  (residues 1 to 680)
  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  (residues 1 to 680)
  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  (residues 1 to 680)
  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  (residues 1 to 680)
  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.
            
            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##
FEATURES             Location/Qualifiers
     source          1..680
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q12.1"
     Protein         1..680
                     /product="HEAT repeat-containing protein 3 isoform a"
                     /note="HEAT repeat-containing protein 3; symportin 1;
                     symportin Syo1"
                     /calculated_mol_wt=74452
     Region          1..39
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z4Q2.2)"
     Region          2..673
                     /region_name="Syo1_like"
                     /note="Fungal symportin 1 (syo1) and similar proteins;
                     cd13394"
                     /db_xref="CDD:240521"
     Site            15
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q7Z4Q2.2)"
     Region          38..69
                     /region_name="HEAT 1"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z4Q2.2)"
     Site            order(56,60,64,97,101,105,161,165,169)
                     /site_type="other"
                     /note="putative peptide binding site [polypeptide
                     binding]"
                     /db_xref="CDD:293788"
     Region          69..108
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Region          74..110
                     /region_name="HEAT 2"
                     /note="propagated from UniProtKB/Swiss-Prot (Q7Z4Q2.2)"
     Region          115..170
                     /region_name="armadillo repeat"
                     /note="armadillo repeat [structural motif]"
                     /db_xref="CDD:293788"
     Site            144
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8BQM4; propagated from
                     UniProtKB/Swiss-Prot (Q7Z4Q2.2)"
     Site            340
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q7Z4Q2.2)"
     Site            order(368,375,384..385,419,468,471..472,475..476,478..480,
                     488,520,524,553,558,652,656)
                     /site_type="other"
                     /note="polypeptide substrate binding site [polypeptide
                     binding]"
                     /db_xref="CDD:240521"
     CDS             1..680
                     /gene="HEATR3"
                     /gene_synonym="DBA21; hsSyo1; SYO1"
                     /coded_by="NM_182922.4:163..2205"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS10739.1"
                     /db_xref="GeneID:55027"
                     /db_xref="HGNC:HGNC:26087"
                     /db_xref="MIM:614951"
ORIGIN      
        1 mgksrtkrfk rpqfsptgdc qaeaaaaang tggeeddgpa aelleklqhp saevrecaca
       61 glarlvqqrp alpglarrda vrrlgpllld pslavretaa galrnlsacg gfevcddmvt
      121 kdimtplval lkecsaglds nemslqekkd qnrnsienia netvnvlwni cecssravsi
      181 fnkegcleiv lkylsrfptn vdlaisvayc lqtvtednpe llksfsatal nmlesallsp
      241 vssmeslllk tlvagtiwnl kdiipcksqa eiinallkil sevlgmdage mviqmkeaet
      301 qrlktaaeae eilentngdd lieddemegi shkrrvrrkt fvsdllpptd kelretiall
      361 taqqtaleii vnmccnedps ddeweelsss desdafmens fsecggqlfs plclshevht
      421 altnylipkk ifektafpns iavdlcsrnp twkplirkmn tiqcralfcl qslvslldve
      481 hlggaaalqt laqhlsqllf sqpdfakhvd fleaissalr allqtmaskn isqcmtpdql
      541 mtlckagihs snvgvrvnvv silgitgsvl akedgtletl knigcfllev ttkdpslvva
      601 gealdalfdv fadgkeaera siqikllsal kefqpvfkmk irkegrgnys tdqlcvldnv
      661 kmnlrrfiay qetvekrlts
//
