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

Tissue specificity

Tissue enhanced (brain)

Subcell location

Nucleoplasm, Nucleoli fibrillar center, Vesicles, Cytosol

Predicted location

Intracellular

Protein family

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

Chromosome

17 (20008865 - 20319026)

Ensembl ID

ENSG00000128487  (ver. 103.38)

Orthologs

Mouse Specc1: ENSMUSG00000042331

UniProt

Q5M775

neXtProt

NX_Q5M775

Human splice variants
Mouse splice variants

Protein structure