SALL3_HUMAN
ID SALL3_HUMAN Reviewed; 1300 AA.
AC Q9BXA9; Q9UGH1;
DT 02-MAY-2002, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 2.
DT 03-AUG-2022, entry version 180.
DE RecName: Full=Sal-like protein 3;
DE AltName: Full=Zinc finger protein 796;
DE AltName: Full=Zinc finger protein SALL3;
DE Short=hSALL3;
GN Name=SALL3; Synonyms=ZNF796;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 3), AND VARIANT VAL-593.
RA Gooding R., Angelicheva D., Blechschmidt K., Swoboda K., Molnar M.,
RA Tournev I., Kalaydjieva L.;
RT "Exclusion of HSALL3 and refinement of the region for the CCFDN gene.";
RL Submitted (FEB-2001) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 29-1300, AND ALTERNATIVE SPLICING.
RX PubMed=10610715; DOI=10.1006/geno.1999.6005;
RA Kohlhase J., Hausmann S., Stojmenovic G., Dixkens C., Bink K.,
RA Schulz-Schaeffer W., Altmann M., Engel W.;
RT "SALL3, a new member of the human spalt-like gene family, maps to 18q23.";
RL Genomics 62:216-222(1999).
RN [3]
RP SEQUENCE REVISION TO 787; 797-802; 808; 1138 AND 1141.
RA Kohlhase J.;
RL Submitted (JUL-2002) to UniProtKB.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16177791; DOI=10.1038/nature03983;
RA Nusbaum C., Zody M.C., Borowsky M.L., Kamal M., Kodira C.D., Taylor T.D.,
RA Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X.,
RA Abouelleil A., Allen N.R., Anderson S., Bloom T., Bugalter B., Butler J.,
RA Cook A., DeCaprio D., Engels R., Garber M., Gnirke A., Hafez N., Hall J.L.,
RA Norman C.H., Itoh T., Jaffe D.B., Kuroki Y., Lehoczky J., Lui A.,
RA Macdonald P., Mauceli E., Mikkelsen T.S., Naylor J.W., Nicol R., Nguyen C.,
RA Noguchi H., O'Leary S.B., Piqani B., Smith C.L., Talamas J.A., Topham K.,
RA Totoki Y., Toyoda A., Wain H.M., Young S.K., Zeng Q., Zimmer A.R.,
RA Fujiyama A., Hattori M., Birren B.W., Sakaki Y., Lander E.S.;
RT "DNA sequence and analysis of human chromosome 18.";
RL Nature 437:551-555(2005).
RN [5]
RP DOMAIN.
RX PubMed=16545361; DOI=10.1016/j.ydbio.2006.02.009;
RA Sweetman D., Muensterberg A.;
RT "The vertebrate spalt genes in development and disease.";
RL Dev. Biol. 293:285-293(2006).
RN [6]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-109; SER-919 AND SER-1177,
RP AND IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21406692; DOI=10.1126/scisignal.2001570;
RA Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T.,
RA Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.;
RT "System-wide temporal characterization of the proteome and phosphoproteome
RT of human embryonic stem cell differentiation.";
RL Sci. Signal. 4:RS3-RS3(2011).
RN [7]
RP VARIANT [LARGE SCALE ANALYSIS] HIS-143.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal cancers.";
RL Science 314:268-274(2006).
CC -!- FUNCTION: Probable transcription factor.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=3;
CC IsoId=Q9BXA9-1; Sequence=Displayed;
CC Name=1;
CC IsoId=Q9BXA9-2; Sequence=VSP_006833;
CC Name=2;
CC IsoId=Q9BXA9-3; Sequence=VSP_006832, VSP_006833;
CC Name=4;
CC IsoId=Q9BXA9-4; Sequence=VSP_006832;
CC -!- TISSUE SPECIFICITY: Widely expressed in adult with highest levels in
CC heart. Expressed in fetal brain (in neurons of hippocampus, cortex,
CC mediodorsal and ventrolateral thalamic nuclei, putamen, cerebellum and
CC brainstem).
CC -!- DEVELOPMENTAL STAGE: In fetal brain of the 24th gestational week.
CC -!- MISCELLANEOUS: [Isoform 1]: Lacks two zinc finger domains. Major
CC isoform with isoform 2. {ECO:0000305}.
CC -!- MISCELLANEOUS: [Isoform 2]: Lacks two zinc finger domains. Major
CC isoform with isoform 1. {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the sal C2H2-type zinc-finger protein family.
CC {ECO:0000305}.
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DR EMBL; AF347021; AAK18311.1; -; Genomic_DNA.
DR EMBL; AJ007421; CAB65124.1; -; Genomic_DNA.
DR EMBL; AC099689; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS12013.1; -. [Q9BXA9-1]
DR RefSeq; NP_741996.2; NM_171999.3. [Q9BXA9-1]
DR AlphaFoldDB; Q9BXA9; -.
DR BioGRID; 118043; 16.
DR IntAct; Q9BXA9; 2.
DR STRING; 9606.ENSP00000441823; -.
DR iPTMnet; Q9BXA9; -.
DR PhosphoSitePlus; Q9BXA9; -.
DR BioMuta; SALL3; -.
DR DMDM; 296452896; -.
DR EPD; Q9BXA9; -.
DR jPOST; Q9BXA9; -.
DR MassIVE; Q9BXA9; -.
DR MaxQB; Q9BXA9; -.
DR PaxDb; Q9BXA9; -.
DR PeptideAtlas; Q9BXA9; -.
DR PRIDE; Q9BXA9; -.
DR ProteomicsDB; 79393; -. [Q9BXA9-1]
DR ProteomicsDB; 79394; -. [Q9BXA9-2]
DR ProteomicsDB; 79395; -. [Q9BXA9-3]
DR ProteomicsDB; 79396; -. [Q9BXA9-4]
DR Antibodypedia; 49173; 27 antibodies from 13 providers.
DR DNASU; 27164; -.
DR Ensembl; ENST00000536229.7; ENSP00000439975.3; ENSG00000256463.10. [Q9BXA9-3]
DR Ensembl; ENST00000537592.7; ENSP00000441823.2; ENSG00000256463.10. [Q9BXA9-1]
DR Ensembl; ENST00000575389.6; ENSP00000458360.2; ENSG00000256463.10. [Q9BXA9-2]
DR Ensembl; ENST00000614883.4; ENSP00000478953.1; ENSG00000277015.4. [Q9BXA9-1]
DR Ensembl; ENST00000631929.1; ENSP00000488140.1; ENSG00000277015.4. [Q9BXA9-2]
DR Ensembl; ENST00000633643.1; ENSP00000488722.1; ENSG00000277015.4. [Q9BXA9-3]
DR GeneID; 27164; -.
DR KEGG; hsa:27164; -.
DR MANE-Select; ENST00000537592.7; ENSP00000441823.2; NM_171999.4; NP_741996.2.
DR UCSC; uc002lmt.4; human. [Q9BXA9-1]
DR CTD; 27164; -.
DR DisGeNET; 27164; -.
DR GeneCards; SALL3; -.
DR HGNC; HGNC:10527; SALL3.
DR HPA; ENSG00000256463; Tissue enhanced (brain, prostate, vagina).
DR MIM; 605079; gene.
DR neXtProt; NX_Q9BXA9; -.
DR OpenTargets; ENSG00000256463; -.
DR PharmGKB; PA34935; -.
DR VEuPathDB; HostDB:ENSG00000256463; -.
DR eggNOG; KOG1074; Eukaryota.
DR GeneTree; ENSGT00940000159356; -.
DR InParanoid; Q9BXA9; -.
DR OMA; KEEDHRT; -.
DR PhylomeDB; Q9BXA9; -.
DR TreeFam; TF317003; -.
DR PathwayCommons; Q9BXA9; -.
DR BioGRID-ORCS; 27164; 8 hits in 1087 CRISPR screens.
DR GeneWiki; SALL3; -.
DR GenomeRNAi; 27164; -.
DR Pharos; Q9BXA9; Tbio.
DR PRO; PR:Q9BXA9; -.
DR Proteomes; UP000005640; Chromosome 18.
DR RNAct; Q9BXA9; protein.
DR Bgee; ENSG00000256463; Expressed in ventricular zone and 56 other tissues.
DR ExpressionAtlas; Q9BXA9; baseline and differential.
DR Genevisible; Q9BXA9; HS.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; IBA:GO_Central.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR InterPro; IPR036236; Znf_C2H2_sf.
DR InterPro; IPR013087; Znf_C2H2_type.
DR Pfam; PF00096; zf-C2H2; 4.
DR SMART; SM00355; ZnF_C2H2; 10.
DR SUPFAM; SSF57667; SSF57667; 5.
DR PROSITE; PS00028; ZINC_FINGER_C2H2_1; 9.
DR PROSITE; PS50157; ZINC_FINGER_C2H2_2; 8.
PE 1: Evidence at protein level;
KW Alternative splicing; DNA-binding; Metal-binding; Nucleus; Phosphoprotein;
KW Reference proteome; Repeat; Transcription; Transcription regulation; Zinc;
KW Zinc-finger.
FT CHAIN 1..1300
FT /note="Sal-like protein 3"
FT /id="PRO_0000047024"
FT ZN_FING 51..73
FT /note="C2H2-type 1; atypical"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042,
FT ECO:0000303|PubMed:16545361"
FT ZN_FING 420..442
FT /note="C2H2-type 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 448..470
FT /note="C2H2-type 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 679..701
FT /note="C2H2-type 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 707..729
FT /note="C2H2-type 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 739..761
FT /note="C2H2-type 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 977..999
FT /note="C2H2-type 7"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 1005..1027
FT /note="C2H2-type 8"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 1113..1135
FT /note="C2H2-type 9"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 1141..1163
FT /note="C2H2-type 10"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT REGION 1..51
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 84..162
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 234..258
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 277..352
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 523..633
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 864..955
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1259..1279
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 8..22
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 29..43
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 107..139
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 142..159
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 237..255
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 307..327
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 329..345
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 545..587
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 864..917
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 109
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:21406692"
FT MOD_RES 919
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:21406692"
FT MOD_RES 1177
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:21406692"
FT VAR_SEQ 1..133
FT /note="Missing (in isoform 2 and isoform 4)"
FT /evidence="ECO:0000305"
FT /id="VSP_006832"
FT VAR_SEQ 973..1044
FT /note="Missing (in isoform 1 and isoform 2)"
FT /evidence="ECO:0000305"
FT /id="VSP_006833"
FT VARIANT 143
FT /note="R -> H (in a colorectal cancer sample; somatic
FT mutation)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_035552"
FT VARIANT 533
FT /note="T -> A (in dbSNP:rs7240860)"
FT /id="VAR_059887"
FT VARIANT 593
FT /note="L -> V (in dbSNP:rs2447437)"
FT /evidence="ECO:0000269|Ref.1"
FT /id="VAR_014132"
FT CONFLICT 91
FT /note="P -> H (in Ref. 1; AAK18311 and 2; CAB65124)"
FT /evidence="ECO:0000305"
FT CONFLICT 235
FT /note="R -> C (in Ref. 2; CAB65124)"
FT /evidence="ECO:0000305"
FT CONFLICT 787
FT /note="D -> N (in Ref. 2; CAB65124)"
FT /evidence="ECO:0000305"
FT CONFLICT 797..802
FT /note="DDDMDE -> NDNLDK (in Ref. 2; CAB65124)"
FT /evidence="ECO:0000305"
FT CONFLICT 808
FT /note="D -> N (in Ref. 2; CAB65124)"
FT /evidence="ECO:0000305"
FT CONFLICT 1138
FT /note="E -> K (in Ref. 2; CAB65124)"
FT /evidence="ECO:0000305"
FT CONFLICT 1141
FT /note="F -> S (in Ref. 2; CAB65124)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1300 AA; 135346 MW; 9D0347FE2C9A6967 CRC64;
MSRRKQAKPQ HLKSDEELLP PDGAPEHAAP GEGAEDADSG PESRSGGEET SVCEKCCAEF
FKWADFLEHQ RSCTKLPPVL IVHEDAPAPP PEDFPEPSPA SSPSERAESE AAEEAGAEGA
EGEARPVEKE AEPMDAEPAG DTRAPRPPPA APAPPTPAYG APSTNVTLEA LLSTKVAVAQ
FSQGARAAGG SGAGGGVAAA AVPLILEQLM ALQQQQIHQL QLIEQIRSQV ALMQRPPPRP
SLSPAAAPSA PGPAPSQLPG LAALPLSAGA PAAAIAGSGP AAPAAFEGAQ PLSRPESGAS
TPGGPAEPSA PAAPSAAPAP AAPAPAPAPQ SAASSQPQSA STPPALAPGS LLGAAPGLPS
PLLPQTSASG VIFPNPLVSI AATANALDPL SALMKHRKGK PPNVSVFEPK ASAEDPFFKH
KCRFCAKVFG SDSALQIHLR SHTGERPFKC NICGNRFSTK GNLKVHFQRH KEKYPHIQMN
PYPVPEYLDN VPTCSGIPYG MSLPPEKPVT TWLDSKPVLP TVPTSVGLQL PPTVPGAHGY
ADSPSATPAS RSPQRPSPAS SECASLSPGL NHVESGVSAT AESPQSLLGG PPLTKAEPVS
LPCTNARAGD APVGAQASAA PTSVDGAPTS LGSPGLPAVS EQFKAQFPFG GLLDSMQTSE
TSKLQQLVEN IDKKMTDPNQ CVICHRVLSC QSALKMHYRT HTGERPFKCK ICGRAFTTKG
NLKTHFGVHR AKPPLRVQHS CPICQKKFTN AVVLQQHIRM HMGGQIPNTP LPEGFQDAMD
SELAYDDKNA ETLSSYDDDM DENSMEDDAE LKDAATDPAK PLLSYAGSCP PSPPSVISSI
AALENQMKMI DSVMSCQQLT GLKSVENGSG ESDRLSNDSS SAVGDLESRS AGSPALSESS
SSQALSPAPS NGESFRSKSP GLGAPEEPQE IPLKTERPDS PAAAPGSGGA PGRAGIKEEA
PFSLLFLSRE RGKCPSTVCG VCGKPFACKS ALEIHYRSHT KERPFVCALC RRGCSTMGNL
KQHLLTHRLK ELPSQLFDPN FALGPSQSTP SLISSAAPTM IKMEVNGHGK AMALGEGPPL
PAGVQVPAGP QTVMGPGLAP MLAPPPRRTP KQHNCQSCGK TFSSASALQI HERTHTGEKP
FGCTICGRAF TTKGNLKVHM GTHMWNNAPA RRGRRLSVEN PMALLGGDAL KFSEMFQKDL
AARAMNVDPS FWNQYAAAIT NGLAMKNNEI SVIQNGGIPQ LPVSLGGSAL PPLGSMASGM
DKARTGSSPP IVSLDKASSE TAASRPFTRF IEDNKEIGIN
