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POU domain class 6 transcription factor 2 (retina-derived POU-domain factor 1, Wilms tumor suppressor locus protein, RPF-1, POU6F2 RPF1, WTSL)
Function:
1) transcription factor
2) role in differentiation of amacrine & ganglion cells
3) recognizes & binds to the DNA sequence 5'-ATGCAAAT-3'
4) isoform 1 does not bind DNA
Structure:
- contains 1 homeobox DNA-binding domain
- contains 1 POU-specific domain
Compartment: nucleus
Alternative splicing: named isoforms=2
Expression:
- expressed only within the CNS, expression is restricted to:
a) medial habenulla
b) a dispersed population of neurons in the dorsal hypothalamus
c) subsets of ganglion & amacrine cells in the retina
Pathology:
- defects in POU6F2 are a cause of hereditary susceptibility to Wilms tumor 5
General
transcription factor (TF)
Properties
SIZE: MW = 72 kD
entity length = 683 aa
COMPARTMENT: cell nucleus
MOTIF: glutamine-rich region {159-438}
MOTIF: glutamine residue (SEVERAL)
proline-rich region
SITE: 189-285
MOTIF: proline residue (SEVERAL)
serine-rich region {427-453}
MOTIF: serine residue (SEVERAL)
POU-specific {468-578}
homeodomain
SITE: 599-658
Database Correlations
OMIM 601583
UniProt P78424
References
- UniProt :accession P78424
- Atlas of Genetics and Cytogenetics in Oncology and Haematology
http://atlasgeneticsoncology.org/Genes/POU6F2ID42963ch7p14.html