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Sal-like protein 3 (Zinc finger protein 796) (Zinc finger protein SALL3) (hSALL3)

 SALL3_HUMAN             Reviewed;        1300 AA.
Q9BXA9; Q9UGH1;
02-MAY-2002, integrated into UniProtKB/Swiss-Prot.
18-MAY-2010, sequence version 2.
05-DEC-2018, entry version 159.
RecName: Full=Sal-like protein 3;
AltName: Full=Zinc finger protein 796;
AltName: Full=Zinc finger protein SALL3;
Short=hSALL3;
Name=SALL3; Synonyms=ZNF796;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 3), AND VARIANT VAL-593.
Gooding R., Angelicheva D., Blechschmidt K., Swoboda K., Molnar M.,
Tournev I., Kalaydjieva L.;
"Exclusion of HSALL3 and refinement of the region for the CCFDN
gene.";
Submitted (FEB-2001) to the EMBL/GenBank/DDBJ databases.
[2]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 29-1300, AND ALTERNATIVE
SPLICING.
PubMed=10610715; DOI=10.1006/geno.1999.6005;
Kohlhase J., Hausmann S., Stojmenovic G., Dixkens C., Bink K.,
Schulz-Schaeffer W., Altmann M., Engel W.;
"SALL3, a new member of the human spalt-like gene family, maps to
18q23.";
Genomics 62:216-222(1999).
[3]
SEQUENCE REVISION TO 787; 797-802; 808; 1138 AND 1141.
Kohlhase J.;
Submitted (JUL-2002) to UniProtKB.
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=16177791; DOI=10.1038/nature03983;
Nusbaum C., Zody M.C., Borowsky M.L., Kamal M., Kodira C.D.,
Taylor T.D., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K.,
FitzGerald M.G., Yang X., Abouelleil A., Allen N.R., Anderson S.,
Bloom T., Bugalter B., Butler J., Cook A., DeCaprio D., Engels R.,
Garber M., Gnirke A., Hafez N., Hall J.L., Norman C.H., Itoh T.,
Jaffe D.B., Kuroki Y., Lehoczky J., Lui A., Macdonald P., Mauceli E.,
Mikkelsen T.S., Naylor J.W., Nicol R., Nguyen C., Noguchi H.,
O'Leary S.B., Piqani B., Smith C.L., Talamas J.A., Topham K.,
Totoki Y., Toyoda A., Wain H.M., Young S.K., Zeng Q., Zimmer A.R.,
Fujiyama A., Hattori M., Birren B.W., Sakaki Y., Lander E.S.;
"DNA sequence and analysis of human chromosome 18.";
Nature 437:551-555(2005).
[5]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-109; SER-919 AND
SER-1177, AND IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE
ANALYSIS].
PubMed=21406692; DOI=10.1126/scisignal.2001570;
Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J.,
Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V.,
Blagoev B.;
"System-wide temporal characterization of the proteome and
phosphoproteome of human embryonic stem cell differentiation.";
Sci. Signal. 4:RS3-RS3(2011).
[6]
VARIANT [LARGE SCALE ANALYSIS] HIS-143.
PubMed=16959974; DOI=10.1126/science.1133427;
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S.,
Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J.,
Dawson D., Willson J.K.V., Gazdar A.F., Hartigan J., Wu L., Liu C.,
Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N.,
Vogelstein B., Kinzler K.W., Velculescu V.E.;
"The consensus coding sequences of human breast and colorectal
cancers.";
Science 314:268-274(2006).
-!- FUNCTION: Probable transcription factor.
-!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=4;
Name=3;
IsoId=Q9BXA9-1; Sequence=Displayed;
Name=1;
IsoId=Q9BXA9-2; Sequence=VSP_006833;
Note=Lacks two zinc finger domains. Major isoform with isoform
2.;
Name=2;
IsoId=Q9BXA9-3; Sequence=VSP_006832, VSP_006833;
Note=Lacks two zinc finger domains. Major isoform with isoform
1.;
Name=4;
IsoId=Q9BXA9-4; Sequence=VSP_006832;
-!- TISSUE SPECIFICITY: Widely expressed in adult with highest levels
in heart. Expressed in fetal brain (in neurons of hippocampus,
cortex, mediodorsal and ventrolateral thalamic nuclei, putamen,
cerebellum and brainstem).
-!- DEVELOPMENTAL STAGE: In fetal brain of the 24th gestational week.
-!- SIMILARITY: Belongs to the sal C2H2-type zinc-finger protein
family. {ECO:0000305}.
-----------------------------------------------------------------------
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EMBL; AF347021; AAK18311.1; -; Genomic_DNA.
EMBL; AJ007421; CAB65124.1; -; Genomic_DNA.
EMBL; AC099689; -; NOT_ANNOTATED_CDS; Genomic_DNA.
CCDS; CCDS12013.1; -. [Q9BXA9-1]
RefSeq; NP_741996.2; NM_171999.3. [Q9BXA9-1]
UniGene; Hs.700557; -.
ProteinModelPortal; Q9BXA9; -.
BioGrid; 118043; 7.
STRING; 9606.ENSP00000441823; -.
iPTMnet; Q9BXA9; -.
PhosphoSitePlus; Q9BXA9; -.
BioMuta; SALL3; -.
DMDM; 296452896; -.
EPD; Q9BXA9; -.
MaxQB; Q9BXA9; -.
PaxDb; Q9BXA9; -.
PeptideAtlas; Q9BXA9; -.
PRIDE; Q9BXA9; -.
ProteomicsDB; 79393; -.
ProteomicsDB; 79394; -. [Q9BXA9-2]
ProteomicsDB; 79395; -. [Q9BXA9-3]
ProteomicsDB; 79396; -. [Q9BXA9-4]
Ensembl; ENST00000536229; ENSP00000439975; ENSG00000256463. [Q9BXA9-3]
Ensembl; ENST00000537592; ENSP00000441823; ENSG00000256463. [Q9BXA9-1]
Ensembl; ENST00000575389; ENSP00000458360; ENSG00000256463. [Q9BXA9-2]
Ensembl; ENST00000614883; ENSP00000478953; ENSG00000277015. [Q9BXA9-1]
Ensembl; ENST00000631929; ENSP00000488140; ENSG00000277015. [Q9BXA9-2]
Ensembl; ENST00000633643; ENSP00000488722; ENSG00000277015. [Q9BXA9-3]
GeneID; 27164; -.
KEGG; hsa:27164; -.
UCSC; uc002lmt.4; human. [Q9BXA9-1]
CTD; 27164; -.
DisGeNET; 27164; -.
EuPathDB; HostDB:ENSG00000256463.8; -.
GeneCards; SALL3; -.
HGNC; HGNC:10527; SALL3.
HPA; HPA016656; -.
MIM; 605079; gene.
neXtProt; NX_Q9BXA9; -.
OpenTargets; ENSG00000256463; -.
PharmGKB; PA34935; -.
eggNOG; KOG1074; Eukaryota.
eggNOG; ENOG410ZE3Z; LUCA.
GeneTree; ENSGT00940000159356; -.
HOGENOM; HOG000231986; -.
HOVERGEN; HBG058921; -.
InParanoid; Q9BXA9; -.
KO; K19871; -.
OMA; RSQVAMM; -.
OrthoDB; EOG091G00R1; -.
PhylomeDB; Q9BXA9; -.
TreeFam; TF317003; -.
GeneWiki; SALL3; -.
GenomeRNAi; 27164; -.
PRO; PR:Q9BXA9; -.
Proteomes; UP000005640; Chromosome 18.
Bgee; ENSG00000256463; Expressed in 83 organ(s), highest expression level in forebrain.
CleanEx; HS_SALL3; -.
ExpressionAtlas; Q9BXA9; baseline and differential.
Genevisible; Q9BXA9; HS.
GO; GO:0005634; C:nucleus; IBA:GO_Central.
GO; GO:0003677; F:DNA binding; IEA:UniProtKB-KW.
GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
GO; GO:0035136; P:forelimb morphogenesis; IEA:Ensembl.
GO; GO:0035137; P:hindlimb morphogenesis; IEA:Ensembl.
GO; GO:0045879; P:negative regulation of smoothened signaling pathway; IEA:Ensembl.
GO; GO:0021891; P:olfactory bulb interneuron development; IEA:Ensembl.
GO; GO:0006355; P:regulation of transcription, DNA-templated; IBA:GO_Central.
InterPro; IPR036236; Znf_C2H2_sf.
InterPro; IPR013087; Znf_C2H2_type.
Pfam; PF00096; zf-C2H2; 5.
SMART; SM00355; ZnF_C2H2; 10.
SUPFAM; SSF57667; SSF57667; 5.
PROSITE; PS00028; ZINC_FINGER_C2H2_1; 9.
PROSITE; PS50157; ZINC_FINGER_C2H2_2; 8.
1: Evidence at protein level;
Alternative splicing; Complete proteome; DNA-binding; Metal-binding;
Nucleus; Phosphoprotein; Polymorphism; Reference proteome; Repeat;
Transcription; Transcription regulation; Zinc; Zinc-finger.
CHAIN 1 1300 Sal-like protein 3.
/FTId=PRO_0000047024.
ZN_FING 420 442 C2H2-type 1. {ECO:0000255|PROSITE-
ProRule:PRU00042}.
ZN_FING 448 470 C2H2-type 2. {ECO:0000255|PROSITE-
ProRule:PRU00042}.
ZN_FING 679 701 C2H2-type 3. {ECO:0000255|PROSITE-
ProRule:PRU00042}.
ZN_FING 707 729 C2H2-type 4. {ECO:0000255|PROSITE-
ProRule:PRU00042}.
ZN_FING 739 761 C2H2-type 5. {ECO:0000255|PROSITE-
ProRule:PRU00042}.
ZN_FING 977 999 C2H2-type 6. {ECO:0000255|PROSITE-
ProRule:PRU00042}.
ZN_FING 1005 1027 C2H2-type 7. {ECO:0000255|PROSITE-
ProRule:PRU00042}.
ZN_FING 1113 1135 C2H2-type 8. {ECO:0000255|PROSITE-
ProRule:PRU00042}.
ZN_FING 1141 1163 C2H2-type 9. {ECO:0000255|PROSITE-
ProRule:PRU00042}.
COMPBIAS 198 201 Poly-Ala.
COMPBIAS 213 216 Poly-Gln.
COMPBIAS 897 902 Poly-Ser.
MOD_RES 109 109 Phosphoserine.
{ECO:0000244|PubMed:21406692}.
MOD_RES 919 919 Phosphoserine.
{ECO:0000244|PubMed:21406692}.
MOD_RES 1177 1177 Phosphoserine.
{ECO:0000244|PubMed:21406692}.
VAR_SEQ 1 133 Missing (in isoform 2 and isoform 4).
{ECO:0000305}.
/FTId=VSP_006832.
VAR_SEQ 973 1044 Missing (in isoform 1 and isoform 2).
{ECO:0000305}.
/FTId=VSP_006833.
VARIANT 143 143 R -> H (in a colorectal cancer sample;
somatic mutation).
{ECO:0000269|PubMed:16959974}.
/FTId=VAR_035552.
VARIANT 533 533 T -> A (in dbSNP:rs7240860).
/FTId=VAR_059887.
VARIANT 593 593 L -> V (in dbSNP:rs2447437).
{ECO:0000269|Ref.1}.
/FTId=VAR_014132.
CONFLICT 91 91 P -> H (in Ref. 1; AAK18311 and 2;
CAB65124). {ECO:0000305}.
CONFLICT 235 235 R -> C (in Ref. 2; CAB65124).
{ECO:0000305}.
CONFLICT 787 787 D -> N (in Ref. 2; CAB65124).
{ECO:0000305}.
CONFLICT 797 802 DDDMDE -> NDNLDK (in Ref. 2; CAB65124).
{ECO:0000305}.
CONFLICT 808 808 D -> N (in Ref. 2; CAB65124).
{ECO:0000305}.
CONFLICT 1138 1138 E -> K (in Ref. 2; CAB65124).
{ECO:0000305}.
CONFLICT 1141 1141 F -> S (in Ref. 2; CAB65124).
{ECO:0000305}.
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


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