SALL1

Last updated
SALL1
Identifiers
Aliases SALL1 , HEL-S-89, HSAL1, Sal-1, TBS, ZNF794, spalt-like transcription factor 1, spalt like transcription factor 1
External IDs OMIM: 602218 MGI: 1889585 HomoloGene: 2230 GeneCards: SALL1
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001127892
NM_002968

NM_021390
NM_001371069
NM_001371070

RefSeq (protein)

NP_001121364
NP_002959

NP_067365
NP_001357998
NP_001357999

Location (UCSC) Chr 16: 51.14 – 51.15 Mb Chr 8: 89.75 – 89.77 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Sal-like 1 (Drosophila), also known as SALL1, is a protein which in humans is encoded by the SALL1 gene. [5] [6] As the full name suggests, it is one of the human versions of the spalt (sal) gene known in Drosophila .

Contents

Function

The protein encoded by this gene is a zinc finger transcriptional repressor and may be part of the NuRD histone deacetylase (HDAC) complex. [5]

Clinical significance

Defects in this gene are a cause of Townes–Brocks syndrome (TBS) as well as branchio-oto-renal syndrome (BOR). Two transcript variants encoding different isoforms have been found for this gene. [5]

Interactions

SALL1 has been shown to interact with TERF1 [7] and UBE2I. [8]

Related Research Articles

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Sal-like protein 4(SALL4) is a transcription factor encoded by a member of the Spalt-like (SALL) gene family, SALL4. The SALL genes were identified based on their sequence homology to Spalt, which is a homeotic gene originally cloned in Drosophila melanogaster that is important for terminal trunk structure formation in embryogenesis and imaginal disc development in the larval stages. There are four human SALL proteins with structural homology and playing diverse roles in embryonic development, kidney function, and cancer. The SALL4 gene encodes at least three isoforms, termed A, B, and C, through alternative splicing, with the A and B forms being the most studied. SALL4 can alter gene expression changes through its interaction with many co-factors and epigenetic complexes. It is also known as a key embryonic stem cell (ESC) factor.

<span class="mw-page-title-main">SALL2</span> Protein-coding gene in the species Homo sapiens

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<span class="mw-page-title-main">SALL3</span> Protein-coding gene in the species Homo sapiens

Sal-like protein 3, also known as zinc finger protein SALL3, is a protein that in humans in encoded by the SALL3 gene.

M33 is a gene. It is a mammalian homologue of Drosophila Polycomb. It localises to euchromatin within interphase nuclei, but it is enriched within the centromeric heterochromatin of metaphase chromosomes. In mice, the official symbol of M33 gene styled Cbx2 and the official name chromobox 2 are maintained by the MGI. Also known as pc; MOD2. In human ortholog CBX2, synonyms CDCA6, M33, SRXY5 from orthology source HGNC. M33 was isolated by means of the structural similarity of its chromodomain. It contains a region of homology shared by Xenopus and Drosophila in the fifth exon. Polycomb genes in Drosophila mediate changes in higher-order chromatin structure to maintain the repressed state of developmentally regulated genes. It may also involved in the campomelic syndrome and neoplastic disorders linked to allele loss in this region. Disruption of the murine M33 gene, displayed posterior transformation of the sternal ribs and vertebral columns.

Philip Leonard Townes was an American physician, human geneticist, embryologist and developmental biologist who identified Townes–Brocks syndrome in 1972 while a Professor of Pediatrics at the University of Rochester.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000103449 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000031665 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 1 2 3 "Entrez Gene: SALL1 sal-like 1 (Drosophila)".
  6. Kohlhase J, Wischermann A, Reichenbach H, Froster U, Engel W (Jan 1998). "Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome". Nature Genetics. 18 (1): 81–3. doi:10.1038/ng0198-81. PMID   9425907. S2CID   20982906.
  7. Netzer C, Rieger L, Brero A, Zhang CD, Hinzke M, Kohlhase J, Bohlander SK (Dec 2001). "SALL1, the gene mutated in Townes-Brocks syndrome, encodes a transcriptional repressor which interacts with TRF1/PIN2 and localizes to pericentromeric heterochromatin". Human Molecular Genetics. 10 (26): 3017–24. doi: 10.1093/hmg/10.26.3017 . PMID   11751684.
  8. Netzer C, Bohlander SK, Rieger L, Müller S, Kohlhase J (Aug 2002). "Interaction of the developmental regulator SALL1 with UBE2I and SUMO-1". Biochemical and Biophysical Research Communications. 296 (4): 870–6. doi:10.1016/S0006-291X(02)02003-X. PMID   12200128.

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.