Property Summary

NCBI Gene PubMed Count 48
PubMed Score 346.86
PubTator Score 101.32

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (16)

Disease log2 FC p
malignant mesothelioma 1.800 1.7e-05
glioblastoma 2.500 5.3e-06
osteosarcoma 1.287 4.3e-02
ependymoma 1.300 6.9e-04
group 4 medulloblastoma -3.600 4.2e-07
astrocytoma 1.500 8.7e-03
atypical teratoid / rhabdoid tumor -3.200 1.3e-04
medulloblastoma, large-cell -3.400 1.2e-05
primitive neuroectodermal tumor 2.300 1.5e-04
pancreatic ductal adenocarcinoma liver m... -3.692 1.8e-04
interstitial cystitis -1.600 7.5e-03
pediatric high grade glioma 2.500 1.8e-06
pilocytic astrocytoma 1.800 5.0e-05
pituitary cancer -2.900 4.9e-06
Down syndrome 1.700 5.1e-04
psoriasis 1.100 2.0e-11

Gene RIF (23)

PMID Text
24292671 Inhibition of SALL1 correlates with reduced levels of CDH1, an important contributor to epithelial-to-mesenchymal transition.
23069192 quantity and quality of SALL1 transcript are important for SALL1 function and determine phenotype, and mode of inheritance, of allelic SALL1-related disorders
22308078 report on a family with features of TBS in whom a novel 149 kb deletion spanning the SALL1 gene was identified by high resolution cytogenetics SNP microarray
21062744 novel role for Sall1 as a member of the transcriptional network that regulates stem cell pluripotency
20634891 Observational study of gene-disease association. (HuGE Navigator)
19942929 Sall1 induces angiogenesis by stimulating VEGF-A promoter activity.
19440552 Data demonstrate that stem cell protein SALL4 represses its target genes, PTEN and SALL1, through the epigenetic repressor Mi-2/NuRD complex.
19247946 Studies indicate that vertebrate sal orthologues (spalt-like/sall) have important developmental roles during neural development and organogenesis and gentic diseases.
19213029 Familial transmission of Goldenhar syndrome is not due to mutations in SALL1.
19005989 This case increases the demand to examine all children with Townes-Brocks Syndrome (TBS) for ophthalmic abnormalities.
18470945 truncated SALL1 protein is expressed in cells derived from a TBS patient
18280297 analysis of one sporadic case of Townes-Brocks syndrome for SALL1 gene mutations and review of the literature [review]
18000979 SALL1 and GLI3 may have roles in limb malformation and are affected by nonsense-mediated decay
17910067 SALL1 gene, mutations of which result in the Townes-Brocks phenotype, is expressed in the developing kidney.
17426652 There is an enhancer element in the SALL1 gene.
16670092 SALL1 is a likely target gene for SIX1 during kidney development
16443351 Data show that SALL1 contains two repression domains, one located at the extreme N-terminus of the protein and the other in the central region.
16429401 there is a different contribution of SALL1 gene function to mouse and human embryonic development
16221172 Sall1 is essential for ureteric bud invasion, the initial key step for metanephros development
16088922 analysis of SALL1 mutations in Townes-Brocks syndrome
15158448 sall1 enhances the canonical Wnt signaling by localizing to heterochromatin
12200128 binding of proteins SALL1, UBE2I and SUMO-1
11751684 Mutation in Townes-Brocks syndrome. Product is a transcriptional repressor which interacts with TRF1/PIN2 and localizes to pericentromeric heterochromatin.

AA Sequence

MSRRKQAKPQHFQSDPEVASLPRRDGDTEKGQPSRPTKSKDAHVCGRCCAEFFELSDLLLHKKNCTKNQL      1 - 70
VLIVNENPASPPETFSPSPPPDNPDEQMNDTVNKTDQVDCSDLSEHNGLDREESMEVEAPVANKSGSGTS     71 - 140
SGSHSSTAPSSSSSSSSSSGGGGSSSTGTSAITTSLPQLGDLTTLGNFSVINSNVIIENLQSTKVAVAQF    141 - 210
SQEARCGGASGGKLAVPALMEQLLALQQQQIHQLQLIEQIRHQILLLASQNADLPTSSSPSQGTLRTSAN    211 - 280
PLSTLSSHLSQQLAAAAGLAQSLASQSASISGVKQLPPIQLPQSSSGNTIIPSNSGSSPNMNILAAAVTT    281 - 350
PSSEKVASSAGASHVSNPAVSSSSSPAFAISSLLSPASNPLLPQQASANSVFPSPLPNIGTTAEDLNSLS    351 - 420
ALAQQRKSKPPNVTAFEAKSTSDEAFFKHKCRFCAKVFGSDSALQIHLRSHTGERPFKCNICGNRFSTKG    421 - 490
NLKVHFQRHKEKYPHIQMNPYPVPEHLDNIPTSTGIPYGMSIPPEKPVTSWLDTKPVLPTLTTSVGLPLP    491 - 560
PTLPSLIPFIKTEEPAPIPISHSATSPPGSVKSDSGGPESATRNLGGLPEEAEGSTLPPSGGKSEESGMV    561 - 630
TNSVPTASSSVLSSPAADCGPAGSATTFTNPLLPLMSEQFKAKFPFGGLLDSAQASETSKLQQLVENIDK    631 - 700
KATDPNECIICHRVLSCQSALKMHYRTHTGERPFKCKICGRAFTTKGNLKTHYSVHRAMPPLRVQHSCPI    701 - 770
CQKKFTNAVVLQQHIRMHMGGQIPNTPVPDSYSESMESDTGSFDEKNFDDLDNFSDENMEDCPEGSIPDT    771 - 840
PKSADASQDSLSSSPLPLEMSSIAALENQMKMINAGLAEQLQASLKSVENGSIEGDVLTNDSSSVGGDME    841 - 910
SQSAGSPAISESTSSMQALSPSNSTQEFHKSPSIEEKPQRAVPSEFANGLSPTPVNGGALDLTSSHAEKI    911 - 980
IKEDSLGILFPFRDRGKFKNTACDICGKTFACQSALDIHYRSHTKERPFICTVCNRGFSTKGNLKQHMLT    981 - 1050
HQMRDLPSQLFEPSSNLGPNQNSAVIPANSLSSLIKTEVNGFVHVSPQDSKDTPTSHVPSGPLSSSATSP   1051 - 1120
VLLPALPRRTPKQHYCNTCGKTFSSSSALQIHERTHTGEKPFACTICGRAFTTKGNLKVHMGTHMWNSTP   1121 - 1190
ARRGRRLSVDGPMTFLGGNPVKFPEMFQKDLAARSGSGDPSSFWNQYAAALSNGLAMKANEISVIQNGGI   1191 - 1260
PPIPGSLGSGNSSPVSGLTGNLERLQNSEPNAPLAGLEKMASSENGTNFRFTRFVEDSKEIVTS         1261 - 1324
//

Text Mined References (52)

PMID Year Title
25755297 2015 System-wide Analysis of SUMOylation Dynamics in Response to Replication Stress Reveals Novel Small Ubiquitin-like Modified Target Proteins and Acceptor Lysines Relevant for Genome Stability.
25241763 2014 Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.
24292671 2014 An in vivo RNAi screen identifies SALL1 as a tumor suppressor in human breast cancer with a role in CDH1 regulation.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24165912 2013 Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese.
23643386 2013 Weight loss after gastric bypass is associated with a variant at 15q26.1.
23069192 2013 Homozygous SALL1 mutation causes a novel multiple congenital anomaly-mental retardation syndrome.
22504420 2012 Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
22308078 2012 Implications for genotype-phenotype predictions in Townes-Brocks syndrome: case report of a novel SALL1 deletion and review of the literature.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
21300955 2011 Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels.
21062744 2011 Sall1 regulates embryonic stem cell differentiation in association with nanog.
20634891 2010 Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.
20548946 2010 A genome-wide association study of optic disc parameters.
19942929 2010 Zinc-finger transcriptional factor Sall1 induces angiogenesis by activation of the gene for VEGF-A.
19440552 2009 Stem cell factor SALL4 represses the transcriptions of PTEN and SALL1 through an epigenetic repressor complex.
19247946 2009 Regulation and function of Spalt proteins during animal development.
19213029 2009 Familial transmission of oculoauriculovertebral spectrum (Goldenhar syndrome) is not due to mutations in either EYA1 or SALL1.
19005989 2008 The association of an epibulbar dermoid and Duane syndrome in a patient with a SALL1 mutation (Townes-Brocks Syndrome).
18470945 2008 SALL1 truncated protein expression in Townes-Brocks syndrome leads to ectopic expression of downstream genes.
18297069 2008 Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations.
18280297 2008 Two coding single nucleotide polymorphisms in the SALL1 gene in Townes-Brocks syndrome: a case report and review of the literature.
18024993 2008 Sall1 regulates mitral cell development and olfactory nerve extension in the developing olfactory bulb.
18000979 2007 Nonsense-mediated decay and the molecular pathogenesis of mutations in SALL1 and GLI3.
17910067 2007 Kidney failure in Townes-Brocks syndrome: an under recognized phenomenon?
17426652 2007 Identification of a prosencephalic-specific enhancer of SALL1: comparative genomic approach using the chick embryo.
16971658 2006 Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study.
16670092 2006 Transcriptional activation of the SALL1 by the human SIX1 homeodomain during kidney development.
16545361 2006 The vertebrate spalt genes in development and disease.
16443351 2006 Defining the heterochromatin localization and repression domains of SALL1.
16429401 2006 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.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16221172 2005 Essential roles of Sall1 in kidney development.
16088922 2005 SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype.
15616553 2004 The sequence and analysis of duplication-rich human chromosome 16.
15342556 2004 Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.
15158448 2004 Sall1, a causative gene for Townes-Brocks syndrome, enhances the canonical Wnt signaling by localizing to heterochromatin.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12395297 2002 Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family.
12200128 2002 Interaction of the developmental regulator SALL1 with UBE2I and SUMO-1.
12065233 2002 SALL1 expression in the human pituitary-adrenal/gonadal axis.
11836251 2002 Murine Sall1 represses transcription by recruiting a histone deacetylase complex.
11751684 2001 SALL1, the gene mutated in Townes-Brocks syndrome, encodes a transcriptional repressor which interacts with TRF1/PIN2 and localizes to pericentromeric heterochromatin.
11511981 2001 Hsal 1 is related to kidney and gonad development and is expressed in Wilms tumor.
11484202 2001 Unique family with Townes-Brocks syndrome, SALL1 mutation, and cardiac defects.
10965108 2000 Molecular cloning, chromosomal localization, and expression of the murine SALL1 ortholog Sall1.
10928856 2000 A SALL1 mutation causes a branchio-oto-renal syndrome-like phenotype.
10533063 1999 Townes-Brocks syndrome: detection of a SALL1 mutation hot spot and evidence for a position effect in one patient.
9973281 1999 Molecular analysis of SALL1 mutations in Townes-Brocks syndrome.
9425907 1998 Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome.
8975705 1996 Isolation, characterization, and organ-specific expression of two novel human zinc finger genes related to the Drosophila gene spalt.