SALL1 (spalt like transcription factor 1)

2019-08-01  

Identity

HGNC
SALL1
LOCATION
16q12.1
LOCUSID
6299
ALIAS
HEL-S-89,HSAL1,Sal-1,TBS,ZNF794

Other Information

Locus ID:

NCBI: 6299
MIM: 602218
HGNC: 10524
Ensembl: ENSG00000103449

Variants:

dbSNP: 6299
ClinVar: 6299
TCGA: ENSG00000103449
COSMIC: SALL1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000103449ENST00000251020Q9NSC2
ENSG00000103449ENST00000440970Q9NSC2
ENSG00000103449ENST00000566102H3BQ32
ENSG00000103449ENST00000570206H3BSM9

Expression (GTEx)

0
10
20
30
40
50
60
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Developmental BiologyREACTOMER-HSA-1266738
Transcriptional regulation of pluripotent stem cellsREACTOMER-HSA-452723
POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferationREACTOMER-HSA-2892247

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
194405522009Stem cell factor SALL4 represses the transcriptions of PTEN and SALL1 through an epigenetic repressor complex.59
192479462009Regulation and function of Spalt proteins during animal development.52
210627442011Sall1 regulates embryonic stem cell differentiation in association with nanog.26
117516842001SALL1, the gene mutated in Townes-Brocks syndrome, encodes a transcriptional repressor which interacts with TRF1/PIN2 and localizes to pericentromeric heterochromatin.21
151584482004Sall1, a causative gene for Townes-Brocks syndrome, enhances the canonical Wnt signaling by localizing to heterochromatin.19
206348912010Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.18
166700922006Transcriptional activation of the SALL1 by the human SIX1 homeodomain during kidney development.14
180009792007Nonsense-mediated decay and the molecular pathogenesis of mutations in SALL1 and GLI3.14
184709452008SALL1 truncated protein expression in Townes-Brocks syndrome leads to ectopic expression of downstream genes.14
242926712014An in vivo RNAi screen identifies SALL1 as a tumor suppressor in human breast cancer with a role in CDH1 regulation.12

Citation

Dessen P

SALL1 (spalt like transcription factor 1)

Atlas Genet Cytogenet Oncol Haematol. 2019-08-01

Online version: http://atlasgeneticsoncology.org/gene/58026/sall1