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DiGeorge syndrome critical region 14; DiGeorge syndrome critical region 13; DiGeorge syndrome protein H; protein DGCR14; DGS-H; protein ES2 (DGCR14, DGCR13, DGSH, DGSI, ES2)
Function:
- may be involved in pre-mRNA splicing
- identified in the spliceosome C complex
Structure: belongs to the DGCR14 family
Compartment: nucleus (putative)
Expression:
- highly expressed in heart, brain & skeletal muscle
- detected at low levels in placenta
Related
DiGeorge syndrome; velocardiofacial syndrome; pharyngeal pouch syndrome
General
DiGeorge syndrome critical region protein (DGCR)
nuclear protein
phosphoprotein
Properties
SIZE: entity length = 476 aa
MW = 53 kD
COMPARTMENT: cell nucleus
MOTIF: acetylation site
SITE: N-TERMINUS
EFFECTOR-BOUND: acetyl
Thr phosphorylation site {T3}
Ser phosphorylation site {S292}
Thr phosphorylation site {T386}
Ser phosphorylation site {S391}
Ser phosphorylation site {S395}
Thr phosphorylation site {T437}
Database Correlations
OMIM 601755
UniProt Q96DF8
Pfam PF09751
Entrez Gene 8220
Kegg hsa:8220
References
UniProt :accession Q96DF8
Component-of
spliceosome C complex