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Aliases for SALL1 Gene

Aliases for SALL1 Gene

  • Spalt-Like Transcription Factor 1 2 3 4
  • HSAL1 3 4 6
  • Zinc Finger Protein Spalt-1 3 4
  • Zinc Finger Protein SALL1 3 4
  • Zinc Finger Protein 794 3 4
  • ZNF794 3 4
  • Sal-1 3 4
  • TBS 3 6
  • Epididymis Secretory Protein Li 89 3
  • Sal (Drosophila)-Like 1 2
  • Sal-Like 1 (Drosophila) 2
  • Sal-Like Protein 1 3
  • HEL-S-89 3
  • SAL1 4

External Ids for SALL1 Gene

Previous HGNC Symbols for SALL1 Gene

  • TBS

Previous GeneCards Identifiers for SALL1 Gene

  • GC16M041583
  • GC16M050907
  • GC16M050948
  • GC16M049727
  • GC16M037057

Summaries for SALL1 Gene

Entrez Gene Summary for SALL1 Gene

  • 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]

GeneCards Summary for SALL1 Gene

SALL1 (Spalt-Like Transcription Factor 1) is a Protein Coding gene. Diseases associated with SALL1 include hemifacial microsomia and townes-brocks syndrome. Among its related pathways are Wnt signaling pathway (KEGG) and Transcriptional Regulatory Network in Embryonic Stem Cell. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and beta-catenin binding. An important paralog of this gene is SALL3.

UniProtKB/Swiss-Prot for SALL1 Gene

  • Transcriptional repressor involved in organogenesis.

Gene Wiki entry for SALL1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SALL1 Gene

Genomics for SALL1 Gene

Regulatory Elements for SALL1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for SALL1 Gene

Start:
51,135,975 bp from pter
End:
51,152,314 bp from pter
Size:
16,340 bases
Orientation:
Minus strand

Genomic View for SALL1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SALL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SALL1 Gene

Proteins for SALL1 Gene

  • Protein details for SALL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NSC2-SALL1_HUMAN
    Recommended name:
    Sal-like protein 1
    Protein Accession:
    Q9NSC2
    Secondary Accessions:
    • Q99881
    • Q9NSC3
    • Q9P1R0

    Protein attributes for SALL1 Gene

    Size:
    1324 amino acids
    Molecular mass:
    140405 Da
    Quaternary structure:
    • Interacts with HDAC1, HDAC2, RBBP4, RBPP7, MTA1 and MTA2 (By similarity). Interacts with FAM58A. Probably associates with NuRD histone deacetylase complex (HDAC).

    Alternative splice isoforms for SALL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SALL1 Gene

Proteomics data for SALL1 Gene at MOPED

Post-translational modifications for SALL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SALL1 Gene

Antibody Products

No data available for DME Specific Peptides for SALL1 Gene

Domains for SALL1 Gene

Gene Families for SALL1 Gene

HGNC:
  • ZNF :Zinc fingers, C2H2-type

Protein Domains for SALL1 Gene

Suggested Antigen Peptide Sequences for SALL1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NSC2

UniProtKB/Swiss-Prot:

SALL1_HUMAN :
  • Q9NSC2
Family:
  • Belongs to the sal C2H2-type zinc-finger protein family.
Similarity:
  • Contains 9 C2H2-type zinc fingers.
genes like me logo Genes that share domains with SALL1: view

Function for SALL1 Gene

Molecular function for SALL1 Gene

GENATLAS Biochemistry: brain specific transcription factor,Drosophila homeotic gene Sal-like 1,expressed in corpus callosum and substantia nigra
UniProtKB/Swiss-Prot Function: Transcriptional repressor involved in organogenesis.

Gene Ontology (GO) - Molecular Function for SALL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding NAS 9425907
GO:0003682 chromatin binding IEA --
GO:0003700 sequence-specific DNA binding transcription factor activity NAS 9425907
GO:0004407 contributes_to histone deacetylase activity ISS --
GO:0005515 protein binding IPI 18297069
genes like me logo Genes that share ontologies with SALL1: view
genes like me logo Genes that share phenotypes with SALL1: view

Animal Models for SALL1 Gene

MGI Knock Outs for SALL1:

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SALL1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for SALL1 Gene

Localization for SALL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SALL1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SALL1 Gene COMPARTMENTS Subcellular localization image for SALL1 gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for SALL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000792 heterochromatin IDA 15158448
GO:0005634 nucleus IDA 12065233
GO:0005737 cytoplasm IDA 12065233
GO:0010369 chromocenter IDA 16443351
GO:0016581 colocalizes_with NuRD complex ISS --
genes like me logo Genes that share ontologies with SALL1: view

Pathways for SALL1 Gene

genes like me logo Genes that share pathways with SALL1: view

Pathways by source for SALL1 Gene

1 BioSystems pathway for SALL1 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for SALL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IDA 16443351
GO:0001657 ureteric bud development ISS --
GO:0001658 branching involved in ureteric bud morphogenesis ISS --
GO:0001822 kidney development IMP 16971658
GO:0001843 neural tube closure IEA --
genes like me logo Genes that share ontologies with SALL1: view

Compounds for SALL1 Gene

(2) Novoseek inferred chemical compound relationships for SALL1 Gene

Compound -log(P) Hits PubMed IDs
zinc 59.7 14
arginine 0 1
genes like me logo Genes that share compounds with SALL1: view

Transcripts for SALL1 Gene

Unigene Clusters for SALL1 Gene

Sal-like 1 (Drosophila):
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SALL1

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for SALL1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SALL1 Gene

No ASD Table

Relevant External Links for SALL1 Gene

GeneLoc Exon Structure for
SALL1
ECgene alternative splicing isoforms for
SALL1

Expression for SALL1 Gene

mRNA expression in normal human tissues for SALL1 Gene

mRNA differential expression in normal tissues according to GTEx for SALL1 Gene

This gene is overexpressed in Liver (5.4), Brain - Spinal cord (cervical c-1) (4.9), and Kidney - Cortex (4.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SALL1 Gene

SOURCE GeneReport for Unigene cluster for SALL1 Gene Hs.135787

mRNA Expression by UniProt/SwissProt for SALL1 Gene

Q9NSC2-SALL1_HUMAN
Tissue specificity: Highest levels in kidney. Lower levels in adult brain (enriched in corpus callosum, lower expression in substantia nigra) and liver
genes like me logo Genes that share expressions with SALL1: view

In Situ Assay Products

Orthologs for SALL1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SALL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SALL1 35
  • 99.21 (n)
  • 98.78 (a)
SALL1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SALL1 35
  • 90.09 (n)
  • 92.85 (a)
SALL1 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SALL1 35
  • 91.07 (n)
  • 93.87 (a)
SALL1 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sall1 35
  • 87.8 (n)
  • 90.39 (a)
Sall1 16
Sall1 36
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SALL1 36
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SALL1 36
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sall1 35
  • 87.94 (n)
  • 90.86 (a)
chicken
(Gallus gallus)
Aves SALL1 35
  • 80.59 (n)
  • 87.45 (a)
SALL1 36
  • 87 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SALL1 36
  • 80 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC68418 35
tropical clawed frog
(Silurana tropicalis)
Amphibia sall1 35
  • 74.28 (n)
  • 79.49 (a)
Str.169 35
zebrafish
(Danio rerio)
Actinopterygii Dr.14305 35
sall1a 35
  • 68.8 (n)
  • 70.76 (a)
sall1a 36
  • 69 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta salm 36
  • 23 (a)
ManyToMany
salr 36
  • 26 (a)
ManyToMany
salr 37
  • 35 (a)
salm 37
  • 62 (a)
worm
(Caenorhabditis elegans)
Secernentea sem-4 36
  • 30 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FZF1 36
  • 26 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4395 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 31 (a)
ManyToMany
-- 36
  • 25 (a)
ManyToMany
Species with no ortholog for SALL1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SALL1 Gene

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

Paralogs for SALL1 Gene

Paralogs for SALL1 Gene

Pseudogenes.org Pseudogenes for SALL1 Gene

genes like me logo Genes that share paralogs with SALL1: view

Variants for SALL1 Gene

Sequence variations from dbSNP and Humsavar for SALL1 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type MAF
rs1015438 -- 51,143,606(-) TCCAA(C/T)GGACT intron-variant
rs1054474 -- 51,136,234(-) ATATC(A/C)CTTTC utr-variant-3-prime
rs1054478 -- 51,136,110(-) CATGC(A/C)CTTTC utr-variant-3-prime
rs1122284 -- 51,152,454(+) GGAGG(C/T)GGCGG upstream-variant-2KB
rs1465337 -- 51,154,052(-) GGGGA(A/G/T)TTTTT upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for SALL1 Gene

Variant ID Type Subtype PubMed ID
nsv833224 CNV Loss 17160897
dgv475n67 CNV Gain 20364138
esv2658882 CNV Deletion 23128226

Relevant External Links for SALL1 Gene

HapMap Linkage Disequilibrium report
SALL1
Human Gene Mutation Database (HGMD)
SALL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SALL1 Gene

Disorders for SALL1 Gene

(1) OMIM Diseases for SALL1 Gene (602218)

UniProtKB/Swiss-Prot

SALL1_HUMAN
  • Townes-Brocks syndrome (TBS) [MIM:107480]: Rare, autosomal dominant malformation syndrome with a combination of imperforate anus, triphalangeal and supernumerary thumbs, malformed ears and sensorineural hearing loss. Note=The disease is caused by mutations affecting the gene represented in this entry. 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.

(10) Novoseek inferred disease relationships for SALL1 Gene

Disease -log(P) Hits PubMed IDs
townes-brocks syndrome 99.2 43
okihiro syndrome 92.6 3
limb malformation 75.5 2
renal agenesis 60.6 1
microphthalmia 55.3 1

Relevant External Links for SALL1

GeneTests
SALL1
GeneReviews
SALL1
Genetic Association Database (GAD)
SALL1
Human Genome Epidemiology (HuGE) Navigator
SALL1
genes like me logo Genes that share disorders with SALL1: view

Publications for SALL1 Gene

  1. Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome. (PMID: 9425907) Kohlhase J. … Engel W. (Nat. Genet. 1998) 2 3 4 23
  2. Molecular analysis of SALL1 mutations in Townes-Brocks syndrome. (PMID: 9973281) Kohlhase J. … Engel W. (Am. J. Hum. Genet. 1999) 3 4 23
  3. Townes-Brocks syndrome: detection of a SALL1 mutation hot spot and evidence for a position effect in one patient. (PMID: 10533063) Marlin S. … Petit C. (Hum. Mutat. 1999) 3 4 23
  4. A SALL1 mutation causes a branchio-oto-renal syndrome-like phenotype. (PMID: 10928856) Engels S. … McGaughran J. (J. Med. Genet. 2000) 3 4 23
  5. Molecular cloning, chromosomal localization, and expression of the murine SALL1 ortholog Sall1. (PMID: 10965108) Buck A. … Kohlhase J. (Cytogenet. Cell Genet. 2000) 3 23

Products for SALL1 Gene

Sources for SALL1 Gene

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