SPEN (spen family transcriptional repressor)

2003-05-01  

Identity

HGNC
LOCATION
1p36.21
LOCUSID
ALIAS
HIAA0929,MINT,RATARS,RBM15C,SHARP
FUSION GENES

Other Information

Locus ID:

NCBI: 23013
MIM: 613484
HGNC: 17575
Ensembl: ENSG00000065526

Variants:

dbSNP: 23013
ClinVar: 23013
TCGA: ENSG00000065526
COSMIC: SPEN

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000065526ENST00000375759Q96T58
ENSG00000065526ENST00000438066F6WRY4
ENSG00000065526ENST00000442985H0Y5U7

Expression (GTEx)

0
10
20
30
40
50
60

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
123747422002SHARP is a novel component of the Notch/RBP-Jkappa signalling pathway.103
128970562003A conserved structural motif reveals the essential transcriptional repression function of Spen proteins and their role in developmental signaling.60
253811272015The NOTCH pathway is recurrently mutated in diffuse large B-cell lymphoma associated with hepatitis C virus infection.19
183321092008ETO, but not leukemogenic fusion protein AML1/ETO, augments RBP-Jkappa/SHARP-mediated repression of notch target genes.17
247486662014The crystal structure of the Split End protein SHARP adds a new layer of complexity to proteins containing RNA recognition motifs.17
172347552007Drosophila split ends homologue SHARP functions as a positive regulator of Wnt/beta-catenin/T-cell factor signaling in neoplastic transformation.16
262977342015The Estrogen Receptor Cofactor SPEN Functions as a Tumor Suppressor and Candidate Biomarker of Drug Responsiveness in Hormone-Dependent Breast Cancers.15
288777522017SPEN, a new player in primary cilia formation and cell migration in breast cancer.13
158247322005An essential role of Pak1 phosphorylation of SHARP in Notch signaling.12
204604842010Identification of a quantitative MINT locus methylation profile predicting local regional recurrence of rectal cancer.11

Citation

Dessen P

SPEN (spen family transcriptional repressor)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/42285/spen-(spen-family-transcriptional-repressor)