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Q9BXA9

- SALL3_HUMAN

UniProt

Q9BXA9 - SALL3_HUMAN

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Protein
Sal-like protein 3
Gene
SALL3, ZNF796
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 1
Add
BLAST
Zinc fingeri448 – 47023C2H2-type 2
Add
BLAST
Zinc fingeri679 – 70123C2H2-type 3
Add
BLAST
Zinc fingeri707 – 72923C2H2-type 4
Add
BLAST
Zinc fingeri739 – 76123C2H2-type 5
Add
BLAST
Zinc fingeri977 – 99923C2H2-type 6
Add
BLAST
Zinc fingeri1005 – 102723C2H2-type 7
Add
BLAST
Zinc fingeri1113 – 113523C2H2-type 8
Add
BLAST
Zinc fingeri1141 – 116323C2H2-type 9
Add
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 Inferred

GO - Cellular componenti

  1. nucleus Source: UniProtKB-SubCell
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 3
PRO_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 421-475, 658-789, 976-1166.

Family & Domainsi

Compositional bias

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

Sequence similaritiesi

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiNOG293478.
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: Q9BXA9-1) [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

MSRRKQAKPQ HLKSDEELLP PDGAPEHAAP GEGAEDADSG PESRSGGEET     50
SVCEKCCAEF FKWADFLEHQ RSCTKLPPVL IVHEDAPAPP PEDFPEPSPA 100
SSPSERAESE AAEEAGAEGA EGEARPVEKE AEPMDAEPAG DTRAPRPPPA 150
APAPPTPAYG APSTNVTLEA LLSTKVAVAQ FSQGARAAGG SGAGGGVAAA 200
AVPLILEQLM ALQQQQIHQL QLIEQIRSQV ALMQRPPPRP SLSPAAAPSA 250
PGPAPSQLPG LAALPLSAGA PAAAIAGSGP AAPAAFEGAQ PLSRPESGAS 300
TPGGPAEPSA PAAPSAAPAP AAPAPAPAPQ SAASSQPQSA STPPALAPGS 350
LLGAAPGLPS PLLPQTSASG VIFPNPLVSI AATANALDPL SALMKHRKGK 400
PPNVSVFEPK ASAEDPFFKH KCRFCAKVFG SDSALQIHLR SHTGERPFKC 450
NICGNRFSTK GNLKVHFQRH KEKYPHIQMN PYPVPEYLDN VPTCSGIPYG 500
MSLPPEKPVT TWLDSKPVLP TVPTSVGLQL PPTVPGAHGY ADSPSATPAS 550
RSPQRPSPAS SECASLSPGL NHVESGVSAT AESPQSLLGG PPLTKAEPVS 600
LPCTNARAGD APVGAQASAA PTSVDGAPTS LGSPGLPAVS EQFKAQFPFG 650
GLLDSMQTSE TSKLQQLVEN IDKKMTDPNQ CVICHRVLSC QSALKMHYRT 700
HTGERPFKCK ICGRAFTTKG NLKTHFGVHR AKPPLRVQHS CPICQKKFTN 750
AVVLQQHIRM HMGGQIPNTP LPEGFQDAMD SELAYDDKNA ETLSSYDDDM 800
DENSMEDDAE LKDAATDPAK PLLSYAGSCP PSPPSVISSI AALENQMKMI 850
DSVMSCQQLT GLKSVENGSG ESDRLSNDSS SAVGDLESRS AGSPALSESS 900
SSQALSPAPS NGESFRSKSP GLGAPEEPQE IPLKTERPDS PAAAPGSGGA 950
PGRAGIKEEA PFSLLFLSRE RGKCPSTVCG VCGKPFACKS ALEIHYRSHT 1000
KERPFVCALC RRGCSTMGNL KQHLLTHRLK ELPSQLFDPN FALGPSQSTP 1050
SLISSAAPTM IKMEVNGHGK AMALGEGPPL PAGVQVPAGP QTVMGPGLAP 1100
MLAPPPRRTP KQHNCQSCGK TFSSASALQI HERTHTGEKP FGCTICGRAF 1150
TTKGNLKVHM GTHMWNNAPA RRGRRLSVEN PMALLGGDAL KFSEMFQKDL 1200
AARAMNVDPS FWNQYAAAIT NGLAMKNNEI SVIQNGGIPQ LPVSLGGSAL 1250
PPLGSMASGM DKARTGSSPP IVSLDKASSE TAASRPFTRF IEDNKEIGIN 1300
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

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.
VSP_006832Add
BLAST
Alternative sequencei973 – 104472Missing in isoform 1 and isoform 2.
VSP_006833Add
BLAST

Sequence conflict

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

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 421-475, 658-789, 976-1166.
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.
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: July 9, 2014
This is version 120 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

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