SPECC1

The protein encoded by this gene belongs to the cytospin-A family. It is localized in the nucleus, and highly expressed in testis and some cancer cell lines. A chromosomal translocation involving this gene and platelet-derived growth factor receptor, beta gene (PDGFRB) may be a cause of juvenile myelomonocytic leukemia. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]

Description

sperm antigen with calponin homology and coiled-coil domains 1

Protein family

Disease related genes, Mapped to neXtProt, Mapped to UniProt SWISS-PROT, Predicted intracellular proteins, Protein evidence (Peptideatlas)

Chromosome

17:p11.2 (20009344 - 20319026)

Ensembl ID

ENSG00000128487  (ver. 99.38)

Orthologs

Mouse Specc1: ENSMUSG00000042331

UniProt

Q5M775

neXtProt

NX_Q5M775

Human splice variants
Mouse splice variants