InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SALL4

Summary

InnateDB Protein

IDBP-81301.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SALL4

Protein Name

sal-like 4 (Drosophila)

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000217086

InnateDB Gene

IDBG-81299 (SALL4)

Protein Structure

UniProt Annotation

Function

Transcription factor with a key role in the maintenance and self-renewal of embryonic and hematopoietic stem cells. {ECO:0000269PubMed:23012367}.

Subcellular Localization

Cytoplasm. Nucleus.

Disease Associations

Duane-radial ray syndrome (DRRS) [MIM:607323]: Disorder characterized by the association of forearm malformations with Duane retraction syndrome. {ECO:0000269PubMed:12393809, ECO:0000269PubMed:12395297, ECO:0000269PubMed:16402211}. Note=The disease is caused by mutations affecting the gene represented in this entry.Oculootoradial syndrome (OORS) [MIM:147750]: Autosomal dominant condition characterized by upper limbs anomalies (radial ray defects, carpal bones fusion), extraocular motor disturbances, congenital bilateral non-progressive mixed hearing loss. Other less consistent malformations include heart involvement, mild thrombocytopenia and leukocytosis (before age 50), shoulder girdle hypoplasia, imperforate anus, kidney malrotation or rectovaginal fistula. The IVIC syndrome is an allelic disorder of Duane-radial ray syndrome (DRRS) with a similar phenotype. {ECO:0000269PubMed:17256792}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in testis. Constitutively expressed in acute myeloid leukemia (AML). {ECO:0000269PubMed:16763212}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
They are also associated with 52 interaction(s) predicted by orthology.

Experimentally validated
Total	7 [view]
Protein-Protein	6 [view]
Protein-DNA	0
Protein-RNA	1 [view]
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	52 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0005515	protein binding
GO:0046872	metal ion binding

Biological Process

GO:0000122	negative regulation of transcription from RNA polymerase II promoter
GO:0001701	in utero embryonic development
GO:0001833	inner cell mass cell proliferation
GO:0001843	neural tube closure
GO:0003281	ventricular septum development
GO:0006351	transcription, DNA-templated
GO:0007507	heart development
GO:0009888	tissue development
GO:0019827	stem cell maintenance
GO:0021915	neural tube development
GO:0030326	embryonic limb morphogenesis
GO:0045944	positive regulation of transcription from RNA polymerase II promoter