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sal-like protein 1; spalt-like transcription factor 1; zinc finger protein SALL1; zinc finger protein Spalt-1; Hsal1; sal-1 (SALL1, SAL1)

Function: - transcriptional repressor involved in organogenesis - interacts with HDAC1, HDAC2, RBBP4, RBPP7, MTA1 & MTA2 (putative) - interacts with FAM58A - probably associates with NuRD histone deacetylase complex (HDAC) Structure: - belongs to the sal C2H2-type Zn+2-finger protein family - contains 9 C2H2-type Zn+2 fingers Compartment: nucleus (putative) Expression: - highest levels in kidney - lower levels in adult brain - enriched in corpus callosum - lower expression in substantia nigra - expressed in liver - in fetal brain, expressed exclusively in neurons of the subependymal region of hypothalamus lateral to the third ventricle Pathology: - defects in SALL1 are the cause of Townes-Brocks syndrome - defects in SALL1 may cause a phenotype overlapping with Townes-Brocks syndrome, similar to bronchio-oto-renal syndrome - defects in SALL1 may be a cause of hemifacial microsomia (Goldenhar syndrome)

General

C2H2 type zinc finger protein nuclear protein phosphoprotein

Properties

SIZE: entity length = 1324 aa MW = 140 kD COMPARTMENT: cell nucleus MOTIF: serine-rich region {150-159} MOTIF: serine residue (SEVERAL) glycine-rich region {160-163} glutamine-rich region {237-240} MOTIF: glutamine residue (SEVERAL) alanine-rich region {294-297} MOTIF: alanine residue (SEVERAL) serine-rich region {371-375} MOTIF: serine residue (SEVERAL) Zn finger C2H2-type SITE: 449-471 EFFECTOR-BOUND: Zn+2 Zn finger C2H2-type SITE: 477-499 EFFECTOR-BOUND: Zn+2 Ser phosphorylation site {S586} Zn finger C2H2-type SITE: 706-728 EFFECTOR-BOUND: Zn+2 Zn finger C2H2-type SITE: 734-756 EFFECTOR-BOUND: Zn+2 Zn finger C2H2-type SITE: 766-788 EFFECTOR-BOUND: Zn+2 Zn finger C2H2-type SITE: 1001-1023 EFFECTOR-BOUND: Zn+2 Zn finger C2H2-type SITE: 1029-1051 EFFECTOR-BOUND: Zn+2 Zn finger C2H2-type SITE: 1134-1156 EFFECTOR-BOUND: Zn+2 MOTIF: serine-rich region {1144-1147} MOTIF: serine residue (SEVERAL) Zn finger C2H2-type SITE: 1162-1184 EFFECTOR-BOUND: Zn+2

Database Correlations

OMIM correlations MORBIDMAP 602218 UniProt Q9NSC2 Pfam PF00096 Entrez Gene 6299 Kegg hsa:6299

References

  1. UniProt :accession Q9NSC2
  2. GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/SALL1