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Details on Person UniProt:Q9NSC2 SALL1
| Class:Id | ReferenceGeneProduct:64120 |
|---|---|
| _chainChangeLog | chain:1-1324 added on Fri February 6 2015 |
| _displayName | UniProt:Q9NSC2 SALL1 |
| _timestamp | 2025-02-21 20:14:18 |
| chain | chain:1-1324 |
| checksum | 41AFA91ADEBEEF8C |
| comment | FUNCTION Transcriptional repressor involved in organogenesis. Plays an essential role in ureteric bud invasion during kidney development.SUBUNIT May associate with NuRD histone deacetylase complex (HDAC) (By similarity). Interacts with components of HDAC complex including HDAC1, HDAC2, RBBP4, RBPP7, MTA1 and MTA2 (By similarity). Interacts with CCNQ (PubMed:18297069). Interacts with NSD2 (via PHD-type zinc fingers 1, 2 and 3) (By similarity).INTERACTION Highest levels in kidney. Lower levels in adult brain (enriched in corpus callosum, lower expression in substantia nigra) and liver.DEVELOPMENTAL STAGE In fetal brain exclusively in neurons of the subependymal region of hypothalamus lateral to the third ventricle.DISEASE The disease is caused by variants affecting the gene represented in this entry. The pathogenic mechanism includes abnormal interactions of mutant SALL1 protein with proteins that control cilium formation and function, resulting in ciliary defects (PubMed:32553112). Some individuals with SALL1 mutations manifest a phenotype overlapping with TBS1 and bronchio-oto-renal syndrome (PubMed:10928856). Clinical features include dysplastic ears, hypoplastic kidneys with impaired renal function, gastroesophageal reflux, hypermetropia, hypospadias, and mild developmental delay (PubMed:10928856). Affected individuals lack the characteristic anal or hand malformations of TBS1 (PubMed:10928856).SIMILARITY Belongs to the sal C2H2-type zinc-finger protein family. |
| description | recommendedName: Sal-like protein 1 alternativeName: Spalt-like transcription factor 1 alternativeName: Zinc finger protein 794 alternativeName: Zinc finger protein SALL1 alternativeName: Zinc finger protein Spalt-1 shortName: HSal1 shortName: Sal-1 |
| geneName | SALL1 SAL1 ZNF794 |
| identifier | Q9NSC2 |
| isSequenceChanged | FALSE |
| keyword | Alternative splicing Deafness DNA-binding Isopeptide bond Metal-binding Nucleus Phosphoprotein Proteomics identification Reference proteome Repeat Repressor Transcription Transcription regulation Ubl conjugation Zinc Zinc-finger |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 [InstanceEdit:9939033] Weiser, Joel, 2025-02-21 |
| name | SALL1 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:2888905] ENSEMBL:ENSG00000103449 SALL1 [Homo sapiens] |
| secondaryIdentifier | SALL1_HUMAN Q99881 Q9NSC3 Q9P1R0 |
| sequenceLength | 1324 |
| species | [Species:48887] Homo sapiens |
| (isoformParent) | [ReferenceIsoform:8972556] UniProt:Q9NSC2-1 SALL1 [Homo sapiens] [ReferenceIsoform:8972557] UniProt:Q9NSC2-2 SALL1 [Homo sapiens] |
| (referenceEntity) | [EntityWithAccessionedSequence:452500] SALL1 [nucleoplasm] [Homo sapiens] |
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No pathways have been reviewed or authored by UniProt:Q9NSC2 SALL1 (64120)
