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SALL1

From Wikipedia, the free encyclopedia

Protein-coding gene in the species Homo sapiens
SALL1
Identifiers
AliasesSALL1, HEL-S-89, HSAL1, Sal-1, TBS, ZNF794, spalt-like transcription factor 1, spalt like transcription factor 1
External IDsOMIM:602218;MGI:1889585;HomoloGene:2230;GeneCards:SALL1;OMA:SALL1 - orthologs
Gene location (Human)
Chromosome 16 (human)
Chr.Chromosome 16 (human)[1]
Chromosome 16 (human)
Genomic location for SALL1
Genomic location for SALL1
Band16q12.1Start51,135,982bp[1]
End51,152,334bp[1]
Gene location (Mouse)
Chromosome 8 (mouse)
Chr.Chromosome 8 (mouse)[2]
Chromosome 8 (mouse)
Genomic location for SALL1
Genomic location for SALL1
Band8|8 C3Start89,753,863bp[2]
End89,770,790bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • ventricular zone

  • inferior ganglion of vagus nerve

  • renal medulla

  • subthalamic nucleus

  • superior vestibular nucleus

  • ganglionic eminence

  • internal globus pallidus

  • stromal cell of endometrium

  • right lobe of liver

  • spinal cord
Top expressed in
  • pineal gland

  • tail of embryo

  • ventricular zone

  • decidua

  • Rostral migratory stream

  • epiblast

  • olfactory bulb

  • primitive streak

  • renal corpuscle

  • gastrula
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
Orthologs
SpeciesHumanMouse
Entrez

6299

58198

Ensembl

ENSG00000103449

ENSMUSG00000031665

UniProt

Q9NSC2

Q9ER74
Q6P5E3

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 MbChr 8: 89.75 – 89.77 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Sal-like 1 (Drosophila), also known asSALL1, is aprotein which in humans is encoded by theSALL1gene.[5][6] As the full name suggests, it is one of the human versions of thespalt (sal) gene known inDrosophila.

Function

[edit]

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

Clinical significance

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

Interactions

[edit]

SALL1 has been shown tointeract withTERF1[7] andUBE2I.[8]

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000103449Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000031665Ensembl, 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. ^abc"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.

External links

[edit]

Further reading

[edit]

This article incorporates text from theUnited States National Library of Medicine, which is in thepublic domain.

(1) Basic domains
(1.1) Basicleucine zipper (bZIP)
(1.2) Basic helix-loop-helix (bHLH)
Group A
Group B
Group C
bHLH-PAS
Group D
Group E
Group F
bHLH-COE
(1.3)bHLH-ZIP
(1.4) NF-1
(1.5) RF-X
(1.6) Basic helix-span-helix (bHSH)
(2)Zinc finger DNA-binding domains
(2.1)Nuclear receptor(Cys4)
subfamily 1
subfamily 2
subfamily 3
subfamily 4
subfamily 5
subfamily 6
subfamily 0
(2.2) Other Cys4
(2.3) Cys2His2
(2.4) Cys6
(2.5) Alternating composition
(2.6) WRKY
(3.1)Homeodomain
Antennapedia
ANTP class
protoHOX
Hox-like
metaHOX
NK-like
other
(3.2) Paired box
(3.3)Fork head /winged helix
(3.4)Heat shock factors
(3.5) Tryptophan clusters
(3.6) TEA domain
  • transcriptional enhancer factor
(4)β-Scaffold factors with minor groove contacts
(4.1)Rel homology region
(4.2)STAT
(4.3) p53-like
(4.4)MADS box
(4.6)TATA-binding proteins
(4.7)High-mobility group
(4.9) Grainyhead
(4.10) Cold-shock domain
(4.11) Runt
(0) Other transcription factors
(0.2) HMGI(Y)
(0.3)Pocket domain
(0.5)AP-2/EREBP-related factors
(0.6) Miscellaneous
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