SPECC1L

This gene encodes a coiled-coil domain containing protein. The encoded protein may play a critical role in actin-cytoskeletal reorganization during facial morphogenesis. Mutations in this gene are a cause of oblique facial clefting-1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A read-through transcript composed of SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1-like) and the downstream ADORA2A (adenosine A2a receptor) gene sequence has been identified, but it is thought to be non-coding. [provided by RefSeq, Jun 2013]

Description

Sperm antigen with calponin homology and coiled-coil domains 1 like

Tissue specificity

Low tissue specificity

Subcell location

Actin filaments

Predicted location

Intracellular

Protein family

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

Chromosome

22 (24270817 - 24417739)

Ensembl ID

ENSG00000100014  (ver. 103.38)

Orthologs

-

UniProt

Q69YQ0

neXtProt

NX_Q69YQ0

Human splice variants

Protein structure