DPPA4

This gene encodes a nuclear factor that is involved in the maintenance of pluripotency in stem cells and essential for embryogenesis. The encoded protein has a scaffold-attachment factor A/B, acinus and PIAS (SAP) domain that binds DNA and is thought to modify chromatin. Mice with a homozygous knockout of the orthologous gene die during late embryonic development or within hours after birth. Knockout embryos are normal in size at embryonic day 18.5 but exhibit skeletal and lung tissue abnormalities. This gene, when mutated, is highly expressed in embryonal carcinomas, pluripotent germ cell tumors, and other cancers and is thought to play an important role in tumor progression. Multiple pseudogenes of this gene have been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]

Description

Developmental pluripotency associated 4

Tissue specificity

Tissue enhanced (bone marrow, lymphoid tissue, testis)

Subcell location

Nucleoplasm, Nucleoli, Nucleoli rim, Mitotic chromosome, Cytosol

Predicted location

Intracellular

Protein family

Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)

Chromosome

3 (109326141 - 109337572)

Ensembl ID

ENSG00000121570  (ver. 103.38)

Orthologs

Mouse Dppa4: ENSMUSG00000058550

UniProt

Q7L190

neXtProt

NX_Q7L190

Human splice variants
Mouse splice variants

Protein structure