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Aliases & Descriptions for SALL1
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases HSAL1 2 , 5 HSal1 3 Hsal1 1 SAL1 3 TBS 2 , 5 ZNF794 1 , 2
Descriptions Spalt-like transcription factor 1 2 , 3 Zinc finger protein SALL1 3 sal (Drosophila)-like 1 1 sal-like 1 2 sal-like 1 (Drosophila) 2
Search outside databases for aliases for SALL1 genePrevious GC identifers: GC16M041583 GC16M051217 GC16M050907 GC16M050948
Summaries for SALL1 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for SALL1 : The protein encoded by this gene is a zinc finger transcriptional repressor and may be part of theNuRD histone deacetylase complex (HDAC). Defects in this gene are a cause of Townes-Brockssyndrome (TBS) as well as bronchio-oto-renal syndrome (BOR). Two transcript variants encodingdifferent isoforms have been found for this gene. [provided by RefSeq] UniProtKB/Swiss-Prot: SALL1_HUMAN, Q9NSC2 Function : Transcriptional repressor involved in organogenesis (By similarity)
Gene Wiki entry for SALL1
Genomic Location for SALL1
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the SALL1 gene Entrez Gene cytogenetic band: 16q12.1 Ensembl cytogenetic band: 16q12.1 HGNC cytogenetic band: 16q12.1 SALL1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 16 GeneLoc Exon Structure
GeneLoc location for GC16M049727:
(about GC identifiers )
Start:
49,727,387 bp from pter
End:
49,742,684 bp from pter
Size:
15,298 bases
Orientation:
minus strand
RefSeq DNA sequence: NC_000016.8 NT_010498.15 Proteins for SALL1
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: SALL1_HUMAN, Q9NSC2 (See
protein sequence )Recommended Name: Sal-like protein 1 Size : 1324 amino acids; 140391 Da
Subunit : Interacts with HDAC1, HDAC2, RBBP4, RBPP7, MTA1 and MTA2 (By similarity). Interacts withFAM58A. Probably associates with NuRD histone deacetylase complex (HDAC)
Subcellular location : Nucleus (By similarity)
Developmental stage : In fetal brain exclusively in neurons of the subependymal region ofhypothalamus lateral to the third ventricle
Secondary accessions : Q99881 Q9NSC3 Q9P1R0
Post-translational modifications:
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (2 alternative transcripts):
NP_001121364.1 NP_002959.2 ENSEMBL proteins: ENSP00000251020 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 2 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for SALL1: Assays for SALL1:
Protein
Domains/ Families for SALL1(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry Q9NSC2 ProtoNet protein and cluster: Q9NSC2
UniProtKB/Swiss-Prot: SALL1_HUMAN, Q9NSC2 Similarity : Belongs to the sal C2H2-type zinc-finger protein familySimilarity : Contains 9 C2H2-type zinc fingers
Gene Function for SALL1
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
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RNAi Products ,
Clones , and
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Millipore ,
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SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_002968 Applied Biosystems Silencer ® siRNAs for SALL1 Sigma-Aldrich siRNA for SALL1 Sigma-Aldrich shRNA for SALL1 Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_001127892                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_001127892                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_001127892  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_002968 UniProtKB/Swiss-Prot: SALL1_HUMAN, Q9NSC2 Function : Transcriptional repressor involved in organogenesis (By similarity)
Genatlas biochemistry entry for SALL1 :brain specific transcription factor,Drosophila homeotic gene Sal-like 1,expressed in corpuscallosum and substantia nigra
12 MGI mutant phenotypes (inferred from 5 alleles ) (MGI details for Sall1) :3 Gene Ontology (GO) molecular function terms (links to tree view) :
About this table
Pathways & Interactions for SALL1
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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Gene Network CentralTM Interacting Genes and Proteins Network for SALL1 5/16 Interacting proteins for SALL1 (ENSP00000251020 3 ) via UniProtKB, MINT, and/or STRING (see all 16
)About this table 5 Gene Ontology (GO) biological process terms (links to tree view) :
About this table
Drugs & Compounds for SALL1 (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Browse Tocris compounds for SALL1 1 Novoseek chemical compound relationship for SALL1 gene
About this table
Transcripts for SALL1(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
Millipore , and/or
Abnova ,
siRNAs from Applied Biosystems ,
Sigma-Aldrich ,
shRNA from
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OriGene ,
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_002968 Sigma-Aldrich siRNA for SALL1 Sigma-Aldrich shRNA for SALL1 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_001127892 NM_002968
REFSEQ mRNAs for SALL1 gene (2 alternative transcripts): NM_001127892.1 NM_002968.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_001127892 NM_002968
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_001127892                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_001127892                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_001127892  
Additional cDNA sequence: AK295103.1 AK307835.1 BC113881.1 BC113906.1 BC131548.1 Y18265.1
3 DOTS entries : DT.408356 DT.95196922 DT.75196640
24/29 AceView cDNA sequences (see all 29
):AA932313 AU132405 AW166367 AA709028 BP350402 AU131453 AU123635 BP360753 NM_002968 AI376951 AI291817 AU130989 AA071082 AI002870 AI762905 BX505300 BM465643 Y18265 AI221270 AA856601 BF923314 AW768829 AU152837 AI291969
highest scoring ESTs for SALL1 :AA856601 BM465643 Y18265 AA071082 AA709028 AA932313 AI002870 AI174371 AI221270 AI245549
Unigene Cluster for SALL1: Sal-like 1 (Drosophila) Hs.135787 [show with all ESTs ] Unigene Representative Sequence: NM_001127892 GeneLoc Exon Structure 1 Ensembl transcript including schematic representation : ENST00000251020
Expression for SALL1
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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SALL1 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for SALL1 1 / 2 / 3
6 probe-sets matching SALL1 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: CACTTTCTTGSOURCE GeneReport for Unigene cluster: Hs.135787 Expression variation in blood from EXPOLDB for SALL1
UniProtKB/Swiss-Prot: SALL1_HUMAN, Q9NSC2 Tissue specificity : Highest levels in kidney. Lower levels in adult brain (enriched in corpuscallosum, lower expression in substantia nigra) and liver
Orthologs for SALL1
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for SALL1 gene from 5/11 species (see all 11
)
About this table Species with no ortholog for SALL1 ENSEMBL Gene Tree for SALL1 Paralogs for SALL1 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for SALL1 gene SALL3 2 SALL4 2 Pseudogenes 1 related pseudogene
SNPs/Variants for SALL1 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for SALL1 (up to first 250kb)
Disorders & Mutations for SALL1
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 602218 disorders : 107480 107480 UniProtKB/Swiss-Prot: SALL1_HUMAN, Q9NSC2
Defects in SALL1 are the cause of Townes-Brocks syndrome (TBS) [MIM:107840]. TBS is arare, autosomal dominant malformation syndrome with a combination of imperforate anus,triphalangeal and supernumerary thumbs, malformed ears and sensorineural hearing loss Defects in SALL1 may cause a phenotype overlapping with TBS, similar to bronchio-oto-renalsyndrome (BOR) [MIM:113650]. BOR is an autosomal dominant disorder, manifested by variouscombinations of preauricular pits, branchial fistulae or cysts, lacrimal duct stenosis, hearingloss, structural defects of the outer, middle, or inner ear, and renal dysplasia. Associateddefects include asthenic habitus, long narrow facies, constricted palate, deep overbite, andmyopia. Hearing loss may be due to Mondini type cochlear defect and stapes fixation
9 Novoseek disease relationships for SALL1 gene
About this table GeneTests: SALL1 Townes-Brocks Syndrome Human Gene Mutation Database : SALL1
Medical News for SALL1 (Possibly Related Articles in
Doctor's Guide )
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--
Publications for SALL1 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/63 PubMed articles for SALL1 gene (see all 63
): Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome. (PubMed id 9425907) 1, 2, 3, 4 Kohlhase J.... Engel W. (1998) Molecular analysis of SALL1 mutations in Townes-Brocks syndrome. (PubMed id 9973281) 1, 3, 4 Kohlhase J.... Engel W. (1999) Townes-Brocks syndrome: detection of a SALL1 mutation hot spot and evidence for a position effect in one patient. (PubMed id 10533063) 1, 3, 4 Marlin S.... Petit C. (1999) A SALL1 mutation causes a branchio-oto-renal syndrome-like phenotype. (PubMed id 10928856) 1, 3, 4 Engels S.... McGaughran J. (2000) Isolation, characterization, and organ-specific expression of two novel human zinc finger genes related to the Drosophila gene spalt. (PubMed id 8975705) 3, 4 Kohlhase J.... Stick R. (1996) Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome. (PubMed id 16429401) 1, 3 Borozdin W....Kohlhase J. (2006) Transcriptional activation of the SALL1 by the human SIX1 homeodomain during kidney development. (PubMed id 16670092) 1, 3 Chai L....Ma Y. (2006) SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype. (PubMed id 16088922) 1, 3 Botzenhart E.M....Kohlhase J. (2005) Molecular cloning, chromosomal localization, and expression of the murine SALL1 ortholog Sall1. (PubMed id 10965108) 1, 3 Buck A....Kohlhase J. (2000) The association of an epibulbar dermoid and Duane syndrome in a patient with a SALL1 mutation (Townes-Brocks Syndrome). (PubMed id 19005989) 1, 3 Barry J.S. and Reddy M.A. (2008)
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Genome Databases showing SALL1
(According to
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euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing SALL1
(According to HUGE )
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Specialized Databases showing SALL1 (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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Name Description
GeneReviews http://www.genetests.org/query?gene=SALL1
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-- Services for SALL1 (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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