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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SALL1 Gene

protein-coding   GIFtS: 59
GCID: GC16M051217

sal-like 1 (Drosophila)

(Previous name: sal (Drosophila)-like 1 )
(Previous symbol: TBS)
 Explore 31 diseases affiliated with
SALL1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SALL1    

Aliases
for SALL1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Sal-Like 1 (Drosophila)1 2     Sal-12 3
ZNF7941 2 3     HSAL12 5
TBS1 2 5     Hsal11
Spalt-Like Transcription Factor 12 3     Sal (Drosophila)-Like 11
Zinc Finger Protein 7942 3     Sal-Like Protein 12
Zinc Finger Protein SALL12 3     HSal13
Zinc Finger Protein Spalt-12 3     SAL13

External Ids:    HGNC: 105241   Entrez Gene: 62992   Ensembl: ENSG000001034497   OMIM: 6022185   UniProtKB: Q9NSC23   

Export aliases for SALL1 gene to outside databases

Previous GC identifers: GC16M041583 GC16M050907 GC16M050948 GC16M049727 GC16M037057


Summaries
for SALL1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for SALL1:
The protein encoded by this gene is a zinc finger transcriptional repressor and may be part of the NuRD histone
deacetylase complex (HDAC). Defects in this gene are a cause of Townes-Brocks syndrome (TBS) as well as
bronchio-oto-renal syndrome (BOR). Two transcript variants encoding different isoforms have been found for this gene.
(provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: SALL1_HUMAN, Q9NSC2
Function: Transcriptional repressor involved in organogenesis (By similarity)

Gene Wiki entry for SALL1


Genomic Views
for SALL1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.1  NT_010498.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SALL1 gene promoter:
         ER-alpha   CUTL1   Nkx2-5   NF-kappaB   NF-kappaB1   Evi-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SALL1 promoter sequence
   Search SABiosciences Chromatin IP Primers for SALL1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SALL1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

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)
SALL1 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M051217:  view genomic region     (about GC identifiers)

Start:
 51,169,886 bp from pter      End:
 51,185,278 bp from pter
Size:
 15,393 bases      Orientation:
 minus strand

Proteins
for SALL1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: SALL1_HUMAN, Q9NSC2 (See protein sequence)
Recommended Name: Sal-like protein 1  
Size: 1324 amino acids; 140405 Da
Subunit: Interacts with HDAC1, HDAC2, RBBP4, RBPP7, MTA1 and MTA2 (By similarity). Interacts with FAM58A. 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 of hypothalamus lateral to the
third ventricle
Secondary accessions: Q99881 Q9NSC3 Q9P1R0
Alternative splicing: 2 isoforms:  Q9NSC2-1   Q9NSC2-2   

Explore the universe of human proteins at neXtProt for SALL1: NX_Q9NSC2

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9NSC2

    • SALL1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001121364.1  NP_002959.2  

    ENSEMBL proteins: 
     ENSP00000251020   ENSP00000455582   ENSP00000456777   ENSP00000442827   ENSP00000407914  

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    Novus Biologicals SALL1 Protein
    Novus Biologicals SALL1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for SALL1

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000792heterochromatin IDA15158448
    GO:0005622intracellular ----
    GO:0005634nucleus IDA12065233
    GO:0005737cytoplasm IDA12065233
    GO:0010369chromocenter IDA16443351


    SALL1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for SALL1

    Protein Domains /
    Families
    for SALL1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SALL1 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR015880 Znf_C2H2-like
     IPR013087 Znf_C2H2/integrase_DNA-bd
     IPR007087 Znf_C2H2

    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 family
    Similarity: Contains 9 C2H2-type zinc fingers


    Function
    for SALL1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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 corpus callosum and substantia
    nigra

    miRNA
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    hsa-miR-411* hsa-miR-300 hsa-miR-376b hsa-miR-106a hsa-miR-15a hsa-miR-519a hsa-miR-93 hsa-miR-3613-3p
    SwitchGear 3'UTR luciferase reporter plasmid: SALL1 3' UTR sequence
    Inhib. RNA
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    OriGene shRNA RFP: SALL1
    OriGene siRNA: SALL1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SALL1

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for SALL1

    Clone
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SALL1 

    Cell Line
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    Search LifeMap BioReagents cell lines for SALL1

    In Situ Assay
    Products:       
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    Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding ----
    GO:0003677DNA binding NAS9425907
    GO:0003682chromatin binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity NAS9425907
    GO:0004407contributes to histone deacetylase activity ISS--


    SALL1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for SALL1:
     Increased gamma-H2AX phosphory 

    Animal Models:
         Mouse knock-outs for SALL1: Sall1tm1Jkoh Sall1tm1Mrau Sall1tm1Ryn
         13 MGI mutant phenotypes (inferred from 9 alleles) (MGI details for Sall1):
     behavior/neurological  cardiovascular system  cellular  digestive/alimentary  embryogenesis 
     growth/size  hearing/vestibular/ear  limbs/digits/tail  mortality/aging  nervous system 
     normal  renal/urinary system  skeleton 

    SALL1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for SALL1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Transcriptional Regulatory Network in Embryonic Stem Cell
    		Transcriptional Regulatory Network in Embryonic Stem Cell1.00
    2Wnt Signaling Pathway
    		Wnt Signaling Pathway NetPath0.22

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for SALL1
        Transcriptional Regulatory Network in Embryonic Stem Cell

    1 BioSystems Pathway for SALL1 
        Wnt Signaling Pathway NetPath


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SALL1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/50 Interacting proteins for SALL1 (Q9NSC23 ENSP000002510204) via UniProtKB, MINT, STRING, and/or I2D (see all 50)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBE2IP632793, ENSP000003248974I2D: score=3 STRING: ENSP00000324897
    NANOGQ9H9S03, ENSP000002293074I2D: score=2 STRING: ENSP00000229307
    TERF1P542743, ENSP000002766034I2D: score=2 STRING: ENSP00000276603
    HDAC1Q135473, ENSP000003626494I2D: score=1 STRING: ENSP00000362649
    CTNNB1P352223, ENSP000003444564I2D: score=1 STRING: ENSP00000344456
    About this table

    Gene Ontology (GO): 5/35 biological process terms (GO ID links to tree view) (see all 35):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IDA16443351
    GO:0001657ureteric bud development ISS--
    GO:0001658branching involved in ureteric bud morphogenesis ISS--
    GO:0001822kidney development IMP16971658
    GO:0001843neural tube closure IEA--


    SALL1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for SALL1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SALL1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SALL1
    2 Novoseek chemical compound relationships for SALL1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    zinc 59.7 14 16088922 (2), 11102974 (1), 20439720 (1), 10965108 (1) (see all 13)
    arginine 0 2 12200128 (1)

    Search CenterWatch for drugs/clinical trials and news about SALL1 

    Transcripts
    for SALL1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for SALL1 gene (2 alternative transcripts): 
    NM_001127892.1  NM_002968.2  

    Unigene Cluster for SALL1:

    Sal-like 1 (Drosophila)
    Hs.135787  [show with all ESTs]
    Unigene Representative Sequence: NM_001127892
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000251020(uc021tie.1 uc021tif.1 uc010cbv.3) ENST00000566102
    ENST00000570206 ENST00000562674 ENST00000541611 ENST00000440970(uc021tid.1)


    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SALL1
    8/83 QIAGEN miScript miRNA Assays for microRNAs that regulate SALL1 (see all 83):
    hsa-miR-411* hsa-miR-300 hsa-miR-376b hsa-miR-106a hsa-miR-15a hsa-miR-519a hsa-miR-93 hsa-miR-3613-3p
    SwitchGear 3'UTR luciferase reporter plasmid: SALL1 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SALL1 (see all 7)
    OriGene shRNA RFP: SALL1
    OriGene siRNA: SALL1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SALL1
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SALL1 (see all 4)
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    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): SALL1 (NM_002968)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SALL1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SALL1 
    Primer
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    Browse OriGene validated miRNA SYBR primer pairs
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SALL1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SALL1

    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):

    AU132405 AW166367 AA709028 AA932313 AI002870 AU131453 Y18265 AI221270 
    BX505300 AA856601 AA071082 NM_002968 BP350402 AU130989 BM465643 BP360753 
    AI762905 BF923314 AU123635 AI291817 AI376951 AW768829 AU152837 AI291969 

    GeneLoc Exon Structure


    Expression
    for SALL1 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SALL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CACTTTCTTG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    SALL1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    KidneyMetanephric MesenchymeMetanephric Mesenchyme CellsKidney
    OvaryOvigerous CordOvarian Somatic CellsOvary
    Spinal CordSpinal Ventral ColumnsVentral Spinal Cord Progenitor CellsMotor Neurons
    BrainMedulla OblongataBrain
    Head MesenchymeHead MesenchymeHead Mesenchyme
    KidneyEpithelial TubuleKidney
    LimbAutopodLimb
    Neural TubeMetencephalonNeural Tube
    Spinal CordPresumptive Spinal CordSpinal Cord
    Spinal CordSpinal Ventral ColumnsSpinal Cord
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 4 LifeMap Cells 
    NameCategory
    Endoderm progenitor-like cells (Generation and expan...)
    Intermediate mesoderm-like cells (Generation of interm...)
    Primitive gut tube-like cells (A scalable, suspensi...)
    Human kidney epithelial cell spheroids (Kidney spheroids for...)

    See SALL1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SALL1

    SOURCE GeneReport for Unigene cluster: Hs.135787

    UniProtKB/Swiss-Prot: SALL1_HUMAN, Q9NSC2
    Tissue specificity: Highest levels in kidney. Lower levels in adult brain (enriched in corpus callosum, lower
    expression in substantia nigra) and liver

        SABiosciences Expression via Pathway-Focused PCR Array including SALL1: 
              Polycomb & Trithorax Target Genes in human mouse rat

    Primer
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    In Situ
    Assay Products:     
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    Orthologs
    for SALL1 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for SALL1 gene from 6/20 species (see all 20)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves SALL11 sal-like 1 (Drosophila) 80.73(n)
    87.54(a)    		   395446  NM_204707.1  NP_990038.1 
    lizard
    (Anolis carolinensis)    		 Reptilia SALL16
    		 --
    		 83(a)
    		 1 ↔ 1
    		 GL343227.1(869388-878714)
    African clawed frog
    (Xenopus laevis)    		 Amphibia MGC684182 hypothetical protein MGC68418 80.65(n)    AF310007.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii Dr.143052 Transcribed sequence with moderate similarity to protein more 75.68(n)    BG308878.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta salm3
    salr1    		 oenocyte development specific RNA polymerase
    II more3
    spalt-related1    		 62(a)
    (best of 2)3
    44.13(n)1
    34.82(a)1    		   345681  NM_078824.21  NP_523548.11 
    worm
    (Caenorhabditis elegans)    		 Secernentea sem-46
    		 SEx Muscle abnormal family member (sem-4)
    		 26(a)
    		 1 → many
    		 I(7038897-7048833)


    ENSEMBL Gene Tree for SALL1 (if available)
    TreeFam Gene Tree for SALL1 (if available) 

    Paralogs
    for SALL1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SALL1 gene
    SALL32  SALL22  ZNF2362  SALL42  
    18/32 SIMAP similar genes for SALL1 using alignment to 5 protein entries:     SALL1_HUMAN (see all proteins) (see all similar genes):
    SALL3    HZF16    PLAGL1    ZFS-4    ZFS-5    DKFZp547H249
    OVOL3    ZNF468    ZNF844    kr-znf3    ZNF    DKFZp434J0650
    ZNF692    ZNF516    ZNF672    ZNF697    ZNF702P    ZNF72

    SALL1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for SALL1
    PGOHUM00000257254


    Genomic Variants
    for SALL1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/355 NCBI SNPs in SALL1 are shown (see all 355)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 16 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1048945351,2
    		Cpathogenic37063118(-) CTCATA/C/GATCGT 6 * S stg10--------
    rs1048945381,2
    		Cpathogenic37063266(-) TACCTC/TAGAGC 4 Q * stg10--------
    rs1048945371,2
    		Cpathogenic37063407(-) CTTTAC/TGAACA 4 R * stg10--------
    rs778401091,2
    		F,--37057710(+) CATTTC/TGTTGT 2 -- ds50011Minor allele frequency- T:0.02NA 120
    rs10544781,2
    		C--37058118(-) CATGCA/CCTTTC 2 -- ut313Minor allele frequency- C:0.00MN NA 188
    rs129208081,2
    		C--37058838(+) CAGCAA/GGTTTA 2 -- ut312Minor allele frequency- G:0.00NA 4
    rs37437671,2
    		C,F,--37058927(+) GTTATA/GTCGCT 2 -- ut312Minor allele frequency- G:0.04EA 1612
    rs1140618001,2
    		C,F,--37059711(+) TGACAG/CACAGT 2 -- int11Minor allele frequency- C:0.03WA 118
    rs287063751,2
    		--37060268(+) GCATAG/ATTATG 2 -- int13Minor allele frequency- A:0.05NA WA EA 240
    rs72036051,2
    		C,F,,--37060328(+) GCACAC/AAGGCC 2 -- int15Minor allele frequency- A:0.15NA WA 126

    HapMap Linkage Disequilibrium report for SALL1 (51169886 - 51185278 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for SALL1
         3 CNVs: 77344 88135 88134
    Human Gene Mutation Database (HGMD): SALL1

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for SALL1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    SALL1 for disorders           About GeneDecksing

    OMIM gene information: 602218   
    OMIM disorders: 107480  
    UniProtKB/Swiss-Prot: SALL1_HUMAN, Q9NSC2
  • Defects in SALL1 are the cause of Townes-Brocks syndrome (TBS) [MIM:107480]. TBS is a rare, autosomal dominant
    • malformation syndrome with a combination of imperforate anus, triphalangeal and supernumerary thumbs, malformed ears
    and sensorineural hearing loss. Note=Some individuals with SALL1 mutations manifest a phenotype overlapping with TBS
    and bronchio-oto-renal syndrome. Clinical features include dysplastic ears, hypoplastic kidneys with impaired renal
    function, gastroesophageal reflux, hypermetropia, hypospadias, and mild developmental delay. Affected individuals lack
    the characteristic anal or hand malformations of TBS

    20/31 diseases for SALL1 (see all 31):    About MalaCards
    townes-brocks syndrome    townes-brocks branchiootorenal-like syndrome    duane-radial ray syndrome    baller-gerold syndrome
    mosaic trisomy 8    imperforate anus    developmental disabilities    melanoacanthoma
    renal agenesis    birth defects    corpus callosum    branchiooculofacial syndrome
    branchiootorenal syndrome    goldenhar syndrome    dysphagia    gastroenteritis
    microphthalmia    acute lymphocytic leukemia    lymphocytic leukemia    syndactyly

    7 diseases from the University of Copenhagen DISEASES database for SALL1:
    Imperforate anus     Goldenhar syndrome     Lung sarcoma     Renal agenesis
    Polydactyly     Sensorineural hearing loss     Baller-Gerold syndrome

    10 Novoseek disease relationships for SALL1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    townes-brocks syndrome 99.2 47 20003547 (3), 16088922 (2), 16429401 (2), 17221874 (2) (see all 36)
    okihiro syndrome 92.6 4 19247946 (1), 18818376 (1), 16790473 (1)
    limb malformation 75.5 2 18000979 (2)
    renal agenesis 60.6 1 16670092 (1)
    microphthalmia 55.3 1 20003547 (1)
    renal dysplasia 54.9 1 10654325 (1)
    developmental disabilities 47.2 2 18818376 (1), 18024993 (1)
    heart defects congenital 38.5 2 15158448 (1), 17295837 (1)
    congenital malformation 23.6 1 16670092 (1)
    renal failure chronic 9.97 1 16971658 (1)

    GeneTests: SALL1
    Townes-Brocks Syndrome

    Human Genome Epidemiology (HuGE) Navigator: SALL1 (3 documents)

    Export disorders for SALL1 gene to outside databases

    Publications
    for SALL1 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SALL1 gene, integrated from 9 sources (see all 87):
    (articles sorted by number of sources associating them with SALL1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome. (PubMed id 9425907)1, 2, 3, 9 Kohlhase J.... Engel W. (1998)
    2. Molecular analysis of SALL1 mutations in Townes-Brocks syndrome. (PubMed id 9973281)1, 2, 9 Kohlhase J.... Engel W. (1999)
    3. Townes-Brocks syndrome: detection of a SALL1 mutation hot spot and evidence for a position effect in one patient. (PubMed id 10533063)1, 2, 9 Marlin S.... Petit C. (1999)
    4. A SALL1 mutation causes a branchio-oto-renal syndrome-like phenotype. (PubMed id 10928856)1, 2, 9 Engels S.... McGaughran J. (2000)
    5. Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations. (PubMed id 18297069)1, 2 Unger S....Kohlhase J. (2008)
    6. Isolation, characterization, and organ-specific expression of two novel human zinc finger genes related to the Drosophila gene spalt. (PubMed id 8975705)1, 2 Kohlhase J.... Stick R. (1996)
    7. 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, 9 Borozdin W....Kohlhase J. (2006)
    8. Transcriptional activation of the SALL1 by the human SIX1 homeodomain during kidney development. (PubMed id 16670092)1, 9 Chai L....Ma Y. (2006)
    9. SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype. (PubMed id 16088922)1, 9 Botzenhart E.M....Kohlhase J. (2005)
    10. Molecular cloning, chromosomal localization, and expression of the murine SALL1 ortholog Sall1. (PubMed id 10965108)1, 9 Buck A....Kohlhase J. (2000)

    External Searches for SALL1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
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    Genome Databases showing SALL1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6299 HGNC: 10524 AceView: SALL1 Ensembl:ENSG00000103449 euGenes: HUgn6299
    ECgene: SALL1 H-InvDB: SALL1

    Other Databases showing SALL1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SALL1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SALL1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SALL1

    Intellectual Property
    for SALL1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for SALL1 gene:
    Search GeneIP for patents involving SALL1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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