LOCUS       NP_741996               1300 aa            linear   PRI 30-APR-2025
DEFINITION  sal-like protein 3 [Homo sapiens].
ACCESSION   NP_741996
VERSION     NP_741996.2
DBSOURCE    REFSEQ: accession NM_171999.4
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 1300)
  AUTHORS   Lei,Y., Al Delbany,D., Krivec,N., Regin,M., Couvreu de
            Deckersberg,E., Janssens,C., Ghosh,M., Sermon,K. and Spits,C.
  TITLE     SALL3 mediates the loss of neuroectodermal differentiation
            potential in human embryonic stem cells with chromosome 18q loss
  JOURNAL   Stem Cell Reports 19 (4), 562-578 (2024)
   PUBMED   38552632
  REMARK    GeneRIF: SALL3 mediates the loss of neuroectodermal differentiation
            potential in human embryonic stem cells with chromosome 18q loss.
REFERENCE   2  (residues 1 to 1300)
  AUTHORS   Zhao,J., Wei,X., Yang,T., Zhao,M.Y., Pei,M.L. and Yang,X.F.
  TITLE     [Correlation between Methylation of SALL3 and Cervical Cancer]
  JOURNAL   Zhongguo Yi Xue Ke Xue Yuan Xue Bao 41 (5), 609-614 (2019)
   PUBMED   31699190
  REMARK    GeneRIF: Hypermethylation of SALL3 in promoter regions inhibits the
            expression of SALL3 in cervical cancer. Infection with high-risk
            HPV serotypes might increase the methylation of SALL3 promoter
            region, silence its expression,and thus promote the development of
            cervical cancer.
REFERENCE   3  (residues 1 to 1300)
  AUTHORS   Kuroda,T., Yasuda,S., Tachi,S., Matsuyama,S., Kusakawa,S., Tano,K.,
            Miura,T., Matsuyama,A. and Sato,Y.
  TITLE     SALL3 expression balance underlies lineage biases in human induced
            pluripotent stem cell differentiation
  JOURNAL   Nat Commun 10 (1), 2175 (2019)
   PUBMED   31092818
  REMARK    GeneRIF: SALL3 expression in human induced pluripotent stem cells
            (hiPSCs) correlates positively with ectoderm differentiation
            capacity and negatively with mesoderm/endoderm differentiation
            capacity. Without affecting self-renewal of hiPSCs, SALL3 knockdown
            inhibits ectoderm differentiation and conversely enhances
            mesodermal/endodermal differentiation.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1300)
  AUTHORS   Misawa,K., Mochizuki,D., Imai,A., Misawa,Y., Endo,S., Mima,M.,
            Kawasaki,H., Carey,T.E. and Kanazawa,T.
  TITLE     Epigenetic silencing of SALL3 is an independent predictor of poor
            survival in head and neck cancer
  JOURNAL   Clin Epigenetics 9, 64 (2017)
   PUBMED   28616099
  REMARK    GeneRIF: Results found that SALL3 promoter methylation was
            associated with its transcriptional inhibition. Also,
            hypermethylation of CpG islands in the SALL3 promoter was
            independently associated with aggressive behavior of head and neck
            cancer (HNSCC) tumors, suggesting that SALL3 acts as a tumor
            suppressor gene and can serve as a prognostic biomarker in HNSCC.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 1300)
  AUTHORS   Eeles,R.A., Olama,A.A., Benlloch,S., Saunders,E.J.,
            Leongamornlert,D.A., Tymrakiewicz,M., Ghoussaini,M., Luccarini,C.,
            Dennis,J., Jugurnauth-Little,S., Dadaev,T., Neal,D.E., Hamdy,F.C.,
            Donovan,J.L., Muir,K., Giles,G.G., Severi,G., Wiklund,F.,
            Gronberg,H., Haiman,C.A., Schumacher,F., Henderson,B.E., Le
            Marchand,L., Lindstrom,S., Kraft,P., Hunter,D.J., Gapstur,S.,
            Chanock,S.J., Berndt,S.I., Albanes,D., Andriole,G., Schleutker,J.,
            Weischer,M., Canzian,F., Riboli,E., Key,T.J., Travis,R.C.,
            Campa,D., Ingles,S.A., John,E.M., Hayes,R.B., Pharoah,P.D.,
            Pashayan,N., Khaw,K.T., Stanford,J.L., Ostrander,E.A.,
            Signorello,L.B., Thibodeau,S.N., Schaid,D., Maier,C., Vogel,W.,
            Kibel,A.S., Cybulski,C., Lubinski,J., Cannon-Albright,L.,
            Brenner,H., Park,J.Y., Kaneva,R., Batra,J., Spurdle,A.B.,
            Clements,J.A., Teixeira,M.R., Dicks,E., Lee,A., Dunning,A.M.,
            Baynes,C., Conroy,D., Maranian,M.J., Ahmed,S., Govindasami,K.,
            Guy,M., Wilkinson,R.A., Sawyer,E.J., Morgan,A., Dearnaley,D.P.,
            Horwich,A., Huddart,R.A., Khoo,V.S., Parker,C.C., Van As,N.J.,
            Woodhouse,C.J., Thompson,A., Dudderidge,T., Ogden,C., Cooper,C.S.,
            Lophatananon,A., Cox,A., Southey,M.C., Hopper,J.L., English,D.R.,
            Aly,M., Adolfsson,J., Xu,J., Zheng,S.L., Yeager,M., Kaaks,R.,
            Diver,W.R., Gaudet,M.M., Stern,M.C., Corral,R., Joshi,A.D.,
            Shahabi,A., Wahlfors,T., Tammela,T.L., Auvinen,A., Virtamo,J.,
            Klarskov,P., Nordestgaard,B.G., Roder,M.A., Nielsen,S.F.,
            Bojesen,S.E., Siddiq,A., Fitzgerald,L.M., Kolb,S., Kwon,E.M.,
            Karyadi,D.M., Blot,W.J., Zheng,W., Cai,Q., McDonnell,S.K.,
            Rinckleb,A.E., Drake,B., Colditz,G., Wokolorczyk,D.,
            Stephenson,R.A., Teerlink,C., Muller,H., Rothenbacher,D.,
            Sellers,T.A., Lin,H.Y., Slavov,C., Mitev,V., Lose,F.,
            Srinivasan,S., Maia,S., Paulo,P., Lange,E., Cooney,K.A.,
            Antoniou,A.C., Vincent,D., Bacot,F., Tessier,D.C., Kote-Jarai,Z.
            and Easton,D.F.
  CONSRTM   COGS-Cancer Research UK GWAS-ELLIPSE (part of GAME-ON) Initiative;
            Australian Prostate Cancer Bioresource; UK Genetic Prostate Cancer
            Study Collaborators/British Association of Urological Surgeons'
            Section of Oncology; UK ProtecT (Prostate testing for cancer and
            Treatment) Study Collaborators; PRACTICAL (Prostate Cancer
            Association Group to Investigate Cancer-Associated Alterations in
            the Genome) Consortium
  TITLE     Identification of 23 new prostate cancer susceptibility loci using
            the iCOGS custom genotyping array
  JOURNAL   Nat Genet 45 (4), 385-391 (2013)
   PUBMED   23535732
REFERENCE   6  (residues 1 to 1300)
  AUTHORS   Shikauchi,Y., Saiura,A., Kubo,T., Niwa,Y., Yamamoto,J., Murase,Y.
            and Yoshikawa,H.
  TITLE     SALL3 interacts with DNMT3A and shows the ability to inhibit CpG
            island methylation in hepatocellular carcinoma
  JOURNAL   Mol Cell Biol 29 (7), 1944-1958 (2009)
   PUBMED   19139273
  REMARK    GeneRIF: This functional characterization of SALL3 sheds light on
            regulatory mechanisms for DNMT3A and provides new strategies to
            inhibit aberrant methylation in cancer.
REFERENCE   7  (residues 1 to 1300)
  AUTHORS   de Celis,J.F. and Barrio,R.
  TITLE     Regulation and function of Spalt proteins during animal development
  JOURNAL   Int J Dev Biol 53 (8-10), 1385-1398 (2009)
   PUBMED   19247946
  REMARK    GeneRIF: Studies indicate that vertebrate sal orthologues
            (spalt-like/sall) have important developmental roles during neural
            development and organogenesis and gentic diseases.
            Review article
REFERENCE   8  (residues 1 to 1300)
  AUTHORS   Julia,A., Ballina,J., Canete,J.D., Balsa,A., Tornero-Molina,J.,
            Naranjo,A., Alperi-Lopez,M., Erra,A., Pascual-Salcedo,D.,
            Barcelo,P., Camps,J. and Marsal,S.
  TITLE     Genome-wide association study of rheumatoid arthritis in the
            Spanish population: KLF12 as a risk locus for rheumatoid arthritis
            susceptibility
  JOURNAL   Arthritis Rheum 58 (8), 2275-2286 (2008)
   PUBMED   18668548
  REMARK    Erratum:[Arthritis Rheum. 2008 Oct;58(10):3276]
REFERENCE   9  (residues 1 to 1300)
  AUTHORS   Sweetman,D. and Munsterberg,A.
  TITLE     The vertebrate spalt genes in development and disease
  JOURNAL   Dev Biol 293 (2), 285-293 (2006)
   PUBMED   16545361
  REMARK    Review article
REFERENCE   10 (residues 1 to 1300)
  AUTHORS   Kohlhase,J., Hausmann,S., Stojmenovic,G., Dixkens,C., Bink,K.,
            Schulz-Schaeffer,W., Altmann,M. and Engel,W.
  TITLE     SALL3, a new member of the human spalt-like gene family, maps to
            18q23
  JOURNAL   Genomics 62 (2), 216-222 (1999)
   PUBMED   10610715
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC099689.4.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jul 28, 2007 this sequence version replaced NP_741996.1.
            
            Summary: This gene encodes a sal-like C2H2-type zinc-finger
            protein, and belongs to a family of evolutionarily conserved genes
            found in species as diverse as Drosophila, C. elegans, and
            vertebrates. Mutations in some of these genes are associated with
            congenital disorders in human, suggesting their importance in
            embryonic development. This protein binds to DNA methyltransferase
            3 alpha (DNMT3A), and reduces DNMT3A-mediated CpG island
            methylation. It is suggested that silencing of this gene, resulting
            in acceleration of DNA methylation, may have a role in oncogenesis.
            [provided by RefSeq, Oct 2011].
            
            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.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: GQ900962.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2151119, SAMEA2153427
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000537592.7/ ENSP00000441823.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1300
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q23"
     Protein         1..1300
                     /product="sal-like protein 3"
                     /note="C2H2 zinc finger protein SALL3; spalt-like zinc
                     finger protein; hSALL3; zinc finger protein 796;
                     epididymis secretory sperm binding protein"
                     /calculated_mol_wt=135216
     Region          1..51
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BXA9.2)"
     Region          84..162
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BXA9.2)"
     Site            109
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q9BXA9.2)"
     Region          234..258
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BXA9.2)"
     Region          277..352
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BXA9.2)"
     Region          412..>734
                     /region_name="COG5048"
                     /note="FOG: Zn-finger [General function prediction only]"
                     /db_xref="CDD:227381"
     Region          419..501
                     /region_name="SUF4-like"
                     /note="N-terminal domain of Oryza sativa transcription
                     factor SUPPRESSOR OF FRI 4 (OsSUF4), Arabidopsis thaliana
                     SUF4 (AtSUF4), and similar proteins; cd20908"
                     /db_xref="CDD:411020"
     Region          422..443
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:411020"
     Region          422..442
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(427,433,440,442,449,456)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:411020"
     Region          450..470
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:411020"
     Region          450..470
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          523..633
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BXA9.2)"
     Region          681..701
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(686,688,690,692..693,696..697,700,714,716,720..721,
                     724..725,728,746,748,750,752..753,756..757,760)
                     /site_type="other"
                     /note="putative nucleic acid binding site [nucleotide
                     binding]"
                     /db_xref="CDD:275368"
     Region          693..718
                     /region_name="zf-H2C2_2"
                     /note="Zinc-finger double domain; pfam13465"
                     /db_xref="CDD:463886"
     Region          709..729
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          739..761
                     /region_name="zf-C2H2"
                     /note="Zinc finger, C2H2 type; pfam00096"
                     /db_xref="CDD:395048"
     Region          741..761
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          864..955
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BXA9.2)"
     Site            919
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q9BXA9.2)"
     Region          979..999
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          1007..1027
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          1115..>1160
                     /region_name="SUF4-like"
                     /note="N-terminal domain of Oryza sativa transcription
                     factor SUPPRESSOR OF FRI 4 (OsSUF4), Arabidopsis thaliana
                     SUF4 (AtSUF4), and similar proteins; cd20908"
                     /db_xref="CDD:411020"
     Region          1115..1136
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:411020"
     Region          1115..1135
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Site            order(1120,1126,1133,1135,1142,1149)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:411020"
     Region          1143..1163
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:275368"
     Region          1143..1160
                     /region_name="C2H2 Zn finger"
                     /note="C2H2 Zn finger [structural motif]"
                     /db_xref="CDD:411020"
     Site            1177
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:21406692; propagated from
                     UniProtKB/Swiss-Prot (Q9BXA9.2)"
     Region          1259..1279
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9BXA9.2)"
     CDS             1..1300
                     /gene="SALL3"
                     /gene_synonym="ZNF796"
                     /coded_by="NM_171999.4:458..4360"
                     /db_xref="CCDS:CCDS12013.1"
                     /db_xref="GeneID:27164"
                     /db_xref="HGNC:HGNC:10527"
                     /db_xref="MIM:605079"
ORIGIN      
        1 msrrkqakpq hlksdeellp pdgapehaap gegaedadsg pesrsggeet svcekccaef
       61 fkwadflehq rsctklppvl ivhedapapp pedfpepspa sspseraese aaeeagaega
      121 egearpveke aepmdaepag dtraprpppa apapptpayg apstnvtlea llstkvavaq
      181 fsqgaraagg sgagggvaaa avplileqlm alqqqqihql qlieqirsqv almqrppprp
      241 slspaaapsa pgpapsqlpg laalplsaga paaaiagsgp aapaafegaq plsrpesgas
      301 tpggpaepsa paapsaapap aapapapapq saassqpqsa stppalapgs llgaapglps
      361 pllpqtsasg vifpnplvsi aatanaldpl salmkhrkgk ppnvsvfepk asaedpffkh
      421 kcrfcakvfg sdsalqihlr shtgerpfkc nicgnrfstk gnlkvhfqrh kekyphiqmn
      481 pypvpeyldn vptcsgipyg mslppekpvt twldskpvlp tvptsvglql pptvpgahgy
      541 adspsatpas rspqrpspas secaslspgl nhvesgvsat aespqsllgg ppltkaepvs
      601 lpctnaragd apvgaqasaa ptsvdgapts lgspglpavs eqfkaqfpfg glldsmqtse
      661 tsklqqlven idkkmtdpnq cvichrvlsc qsalkmhyrt htgerpfkck icgrafttkg
      721 nlkthfgvhr akpplrvqhs cpicqkkftn avvlqqhirm hmggqipntp lpegfqdamd
      781 selayddkna etlssydddm densmeddae lkdaatdpak pllsyagscp psppsvissi
      841 aalenqmkmi dsvmscqqlt glksvengsg esdrlsndss savgdlesrs agspalsess
      901 ssqalspaps ngesfrsksp glgapeepqe iplkterpds paaapgsgga pgragikeea
      961 pfsllflsre rgkcpstvcg vcgkpfacks aleihyrsht kerpfvcalc rrgcstmgnl
     1021 kqhllthrlk elpsqlfdpn falgpsqstp slissaaptm ikmevnghgk amalgegppl
     1081 pagvqvpagp qtvmgpglap mlappprrtp kqhncqscgk tfssasalqi herthtgekp
     1141 fgcticgraf ttkgnlkvhm gthmwnnapa rrgrrlsven pmallggdal kfsemfqkdl
     1201 aaramnvdps fwnqyaaait nglamknnei sviqnggipq lpvslggsal pplgsmasgm
     1261 dkartgsspp ivsldkasse taasrpftrf iednkeigin
//
