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Q9BXA9

- SALL3_HUMAN

UniProt

Q9BXA9 - SALL3_HUMAN

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Protein

Sal-like protein 3

Gene

SALL3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Probable transcription factor.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri420 – 44223C2H2-type 1PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri448 – 47023C2H2-type 2PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri679 – 70123C2H2-type 3PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri707 – 72923C2H2-type 4PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri739 – 76123C2H2-type 5PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri977 – 99923C2H2-type 6PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri1005 – 102723C2H2-type 7PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri1113 – 113523C2H2-type 8PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri1141 – 116323C2H2-type 9PROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. DNA binding Source: UniProtKB-KW
  2. metal ion binding Source: UniProtKB-KW

GO - Biological processi

  1. forelimb morphogenesis Source: Ensembl
  2. hindlimb morphogenesis Source: Ensembl
  3. negative regulation of smoothened signaling pathway Source: Ensembl
  4. olfactory bulb interneuron development Source: Ensembl
  5. regulation of transcription, DNA-templated Source: UniProtKB-KW
  6. transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding, Metal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
Sal-like protein 3
Alternative name(s):
Zinc finger protein 796
Zinc finger protein SALL3
Short name:
hSALL3
Gene namesi
Name:SALL3
Synonyms:ZNF796
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 18

Organism-specific databases

HGNCiHGNC:10527. SALL3.

Subcellular locationi

Nucleus Curated

GO - Cellular componenti

  1. nucleus Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA34935.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 13001300Sal-like protein 3PRO_0000047024Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei109 – 1091Phosphoserine1 Publication
Modified residuei919 – 9191Phosphoserine1 Publication
Modified residuei1177 – 11771Phosphoserine1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ9BXA9.
PaxDbiQ9BXA9.
PRIDEiQ9BXA9.

PTM databases

PhosphoSiteiQ9BXA9.

Expressioni

Tissue specificityi

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 stagei

In fetal brain of the 24th gestational week.

Gene expression databases

BgeeiQ9BXA9.
CleanExiHS_SALL3.
GenevestigatoriQ9BXA9.

Organism-specific databases

HPAiHPA016656.

Interactioni

Protein-protein interaction databases

BioGridi118043. 4 interactions.
STRINGi9606.ENSP00000299466.

Structurei

3D structure databases

ProteinModelPortaliQ9BXA9.
SMRiQ9BXA9. Positions 403-476, 678-761, 976-1023, 1111-1144.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi198 – 2014Poly-Ala
Compositional biasi213 – 2164Poly-Gln
Compositional biasi897 – 9026Poly-Ser

Sequence similaritiesi

Contains 9 C2H2-type zinc fingers.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri420 – 44223C2H2-type 1PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri448 – 47023C2H2-type 2PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri679 – 70123C2H2-type 3PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri707 – 72923C2H2-type 4PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri739 – 76123C2H2-type 5PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri977 – 99923C2H2-type 6PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri1005 – 102723C2H2-type 7PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri1113 – 113523C2H2-type 8PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri1141 – 116323C2H2-type 9PROSITE-ProRule annotationAdd
BLAST

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiNOG293478.
GeneTreeiENSGT00550000074555.
HOGENOMiHOG000231986.
HOVERGENiHBG058921.
InParanoidiQ9BXA9.
OMAiMEVNGHS.
OrthoDBiEOG7NCV2P.
PhylomeDBiQ9BXA9.
TreeFamiTF317003.

Family and domain databases

Gene3Di3.30.160.60. 9 hits.
InterProiIPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view]
SMARTiSM00355. ZnF_C2H2. 10 hits.
[Graphical view]
PROSITEiPS00028. ZINC_FINGER_C2H2_1. 9 hits.
PS50157. ZINC_FINGER_C2H2_2. 8 hits.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. Align

Isoform 3 (identifier: Q9BXA9) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSRRKQAKPQ HLKSDEELLP PDGAPEHAAP GEGAEDADSG PESRSGGEET
60 70 80 90 100
SVCEKCCAEF FKWADFLEHQ RSCTKLPPVL IVHEDAPAPP PEDFPEPSPA
110 120 130 140 150
SSPSERAESE AAEEAGAEGA EGEARPVEKE AEPMDAEPAG DTRAPRPPPA
160 170 180 190 200
APAPPTPAYG APSTNVTLEA LLSTKVAVAQ FSQGARAAGG SGAGGGVAAA
210 220 230 240 250
AVPLILEQLM ALQQQQIHQL QLIEQIRSQV ALMQRPPPRP SLSPAAAPSA
260 270 280 290 300
PGPAPSQLPG LAALPLSAGA PAAAIAGSGP AAPAAFEGAQ PLSRPESGAS
310 320 330 340 350
TPGGPAEPSA PAAPSAAPAP AAPAPAPAPQ SAASSQPQSA STPPALAPGS
360 370 380 390 400
LLGAAPGLPS PLLPQTSASG VIFPNPLVSI AATANALDPL SALMKHRKGK
410 420 430 440 450
PPNVSVFEPK ASAEDPFFKH KCRFCAKVFG SDSALQIHLR SHTGERPFKC
460 470 480 490 500
NICGNRFSTK GNLKVHFQRH KEKYPHIQMN PYPVPEYLDN VPTCSGIPYG
510 520 530 540 550
MSLPPEKPVT TWLDSKPVLP TVPTSVGLQL PPTVPGAHGY ADSPSATPAS
560 570 580 590 600
RSPQRPSPAS SECASLSPGL NHVESGVSAT AESPQSLLGG PPLTKAEPVS
610 620 630 640 650
LPCTNARAGD APVGAQASAA PTSVDGAPTS LGSPGLPAVS EQFKAQFPFG
660 670 680 690 700
GLLDSMQTSE TSKLQQLVEN IDKKMTDPNQ CVICHRVLSC QSALKMHYRT
710 720 730 740 750
HTGERPFKCK ICGRAFTTKG NLKTHFGVHR AKPPLRVQHS CPICQKKFTN
760 770 780 790 800
AVVLQQHIRM HMGGQIPNTP LPEGFQDAMD SELAYDDKNA ETLSSYDDDM
810 820 830 840 850
DENSMEDDAE LKDAATDPAK PLLSYAGSCP PSPPSVISSI AALENQMKMI
860 870 880 890 900
DSVMSCQQLT GLKSVENGSG ESDRLSNDSS SAVGDLESRS AGSPALSESS
910 920 930 940 950
SSQALSPAPS NGESFRSKSP GLGAPEEPQE IPLKTERPDS PAAAPGSGGA
960 970 980 990 1000
PGRAGIKEEA PFSLLFLSRE RGKCPSTVCG VCGKPFACKS ALEIHYRSHT
1010 1020 1030 1040 1050
KERPFVCALC RRGCSTMGNL KQHLLTHRLK ELPSQLFDPN FALGPSQSTP
1060 1070 1080 1090 1100
SLISSAAPTM IKMEVNGHGK AMALGEGPPL PAGVQVPAGP QTVMGPGLAP
1110 1120 1130 1140 1150
MLAPPPRRTP KQHNCQSCGK TFSSASALQI HERTHTGEKP FGCTICGRAF
1160 1170 1180 1190 1200
TTKGNLKVHM GTHMWNNAPA RRGRRLSVEN PMALLGGDAL KFSEMFQKDL
1210 1220 1230 1240 1250
AARAMNVDPS FWNQYAAAIT NGLAMKNNEI SVIQNGGIPQ LPVSLGGSAL
1260 1270 1280 1290 1300
PPLGSMASGM DKARTGSSPP IVSLDKASSE TAASRPFTRF IEDNKEIGIN
Length:1,300
Mass (Da):135,346
Last modified:May 18, 2010 - v2
Checksum:i9D0347FE2C9A6967
GO
Isoform 1 (identifier: Q9BXA9-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     973-1044: Missing.

Note: Lacks two zinc finger domains. Major isoform with isoform 2.

Show »
Length:1,228
Mass (Da):127,332
Checksum:i0ED24F438F720F28
GO
Isoform 2 (identifier: Q9BXA9-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-133: Missing.
     973-1044: Missing.

Note: Lacks two zinc finger domains. Major isoform with isoform 1.

Show »
Length:1,095
Mass (Da):113,164
Checksum:i226DEA7691D918FE
GO
Isoform 4 (identifier: Q9BXA9-4) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-133: Missing.

Show »
Length:1,167
Mass (Da):121,179
Checksum:i583C3C859AFDC4AB
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti91 – 911P → H in AAK18311. 1 PublicationCurated
Sequence conflicti91 – 911P → H in CAB65124. (PubMed:10610715)Curated
Sequence conflicti235 – 2351R → C in CAB65124. (PubMed:10610715)Curated
Sequence conflicti787 – 7871D → N in CAB65124. (PubMed:10610715)Curated
Sequence conflicti797 – 8026DDDMDE → NDNLDK in CAB65124. (PubMed:10610715)Curated
Sequence conflicti808 – 8081D → N in CAB65124. (PubMed:10610715)Curated
Sequence conflicti1138 – 11381E → K in CAB65124. (PubMed:10610715)Curated
Sequence conflicti1141 – 11411F → S in CAB65124. (PubMed:10610715)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti143 – 1431R → H in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_035552
Natural varianti533 – 5331T → A.
Corresponds to variant rs7240860 [ dbSNP | Ensembl ].
VAR_059887
Natural varianti593 – 5931L → V.1 Publication
Corresponds to variant rs2447437 [ dbSNP | Ensembl ].
VAR_014132

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 133133Missing in isoform 2 and isoform 4. CuratedVSP_006832Add
BLAST
Alternative sequencei973 – 104472Missing in isoform 1 and isoform 2. CuratedVSP_006833Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF347021 Genomic DNA. Translation: AAK18311.1.
AJ007421 Genomic DNA. Translation: CAB65124.1.
AC099689 Genomic DNA. No translation available.
CCDSiCCDS12013.1. [Q9BXA9-1]
RefSeqiNP_741996.2. NM_171999.3. [Q9BXA9-1]
UniGeneiHs.700557.

Genome annotation databases

EnsembliENST00000536229; ENSP00000439975; ENSG00000256463. [Q9BXA9-3]
ENST00000537592; ENSP00000441823; ENSG00000256463. [Q9BXA9-1]
ENST00000575389; ENSP00000458360; ENSG00000256463. [Q9BXA9-2]
GeneIDi27164.
KEGGihsa:27164.
UCSCiuc002lmt.3. human. [Q9BXA9-1]
uc010dra.3. human. [Q9BXA9-3]

Polymorphism databases

DMDMi296452896.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF347021 Genomic DNA. Translation: AAK18311.1 .
AJ007421 Genomic DNA. Translation: CAB65124.1 .
AC099689 Genomic DNA. No translation available.
CCDSi CCDS12013.1. [Q9BXA9-1 ]
RefSeqi NP_741996.2. NM_171999.3. [Q9BXA9-1 ]
UniGenei Hs.700557.

3D structure databases

ProteinModelPortali Q9BXA9.
SMRi Q9BXA9. Positions 403-476, 678-761, 976-1023, 1111-1144.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 118043. 4 interactions.
STRINGi 9606.ENSP00000299466.

PTM databases

PhosphoSitei Q9BXA9.

Polymorphism databases

DMDMi 296452896.

Proteomic databases

MaxQBi Q9BXA9.
PaxDbi Q9BXA9.
PRIDEi Q9BXA9.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000536229 ; ENSP00000439975 ; ENSG00000256463 . [Q9BXA9-3 ]
ENST00000537592 ; ENSP00000441823 ; ENSG00000256463 . [Q9BXA9-1 ]
ENST00000575389 ; ENSP00000458360 ; ENSG00000256463 . [Q9BXA9-2 ]
GeneIDi 27164.
KEGGi hsa:27164.
UCSCi uc002lmt.3. human. [Q9BXA9-1 ]
uc010dra.3. human. [Q9BXA9-3 ]

Organism-specific databases

CTDi 27164.
GeneCardsi GC18P076766.
HGNCi HGNC:10527. SALL3.
HPAi HPA016656.
MIMi 605079. gene.
neXtProti NX_Q9BXA9.
PharmGKBi PA34935.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG293478.
GeneTreei ENSGT00550000074555.
HOGENOMi HOG000231986.
HOVERGENi HBG058921.
InParanoidi Q9BXA9.
OMAi MEVNGHS.
OrthoDBi EOG7NCV2P.
PhylomeDBi Q9BXA9.
TreeFami TF317003.

Miscellaneous databases

GeneWikii SALL3.
GenomeRNAii 27164.
NextBioi 49956.
PROi Q9BXA9.
SOURCEi Search...

Gene expression databases

Bgeei Q9BXA9.
CleanExi HS_SALL3.
Genevestigatori Q9BXA9.

Family and domain databases

Gene3Di 3.30.160.60. 9 hits.
InterProi IPR007087. Znf_C2H2.
IPR015880. Znf_C2H2-like.
IPR013087. Znf_C2H2/integrase_DNA-bd.
[Graphical view ]
SMARTi SM00355. ZnF_C2H2. 10 hits.
[Graphical view ]
PROSITEi PS00028. ZINC_FINGER_C2H2_1. 9 hits.
PS50157. ZINC_FINGER_C2H2_2. 8 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Exclusion of HSALL3 and refinement of the region for the CCFDN gene."
    Gooding R., Angelicheva D., Blechschmidt K., Swoboda K., Molnar M., Tournev I., Kalaydjieva L.
    Submitted (FEB-2001) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 3), VARIANT VAL-593.
  2. "SALL3, a new member of the human spalt-like gene family, maps to 18q23."
    Kohlhase J., Hausmann S., Stojmenovic G., Dixkens C., Bink K., Schulz-Schaeffer W., Altmann M., Engel W.
    Genomics 62:216-222(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 29-1300, ALTERNATIVE SPLICING.
  3. Kohlhase J.
    Submitted (JUL-2002) to UniProtKB
    Cited for: SEQUENCE REVISION TO 787; 797-802; 808; 1138 AND 1141.
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
    Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
    Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-109; SER-919 AND SER-1177, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  6. Cited for: VARIANT [LARGE SCALE ANALYSIS] HIS-143.

Entry informationi

Entry nameiSALL3_HUMAN
AccessioniPrimary (citable) accession number: Q9BXA9
Secondary accession number(s): Q9UGH1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 2, 2002
Last sequence update: May 18, 2010
Last modified: October 29, 2014
This is version 122 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 18
    Human chromosome 18: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3