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)

More general terms

• nuclear protein
• C2H2 type zinc finger protein
• phosphoprotein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=6299
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:6299
• OMIM: https://mirror.omim.org/entry/107480
• OMIM: https://mirror.omim.org/entry/113650
• OMIM: https://mirror.omim.org/entry/602218
• UniProt: http://www.uniprot.org/uniprot/Q9NSC2.html