SHANK1 SH3 and multiple ankyrin repeat domains 1 [ Homo sapiens (human) ] - Gene - Data resources

50944

SHANK1 SH3 and multiple ankyrin repeat domains 1 [ Homo sapiens (human) ]
Source: NCBI Gene (ID 50944)

Symbol: SHANK1

Full name: SH3 and multiple ankyrin repeat domains 1

Gene type: protein coding

RefSeq status: VALIDATED

Also known as: SPANK-1; SSTRIP; synamon

Summary: This gene encodes a member of the SHANK (SH3 domain and ankyrin repeat containing) family of proteins. Members of this family act as scaffold proteins that are required for the development and function of neuronal synapses. Deletions in this gene may be associated with autism spectrum disorder in males. [provided by RefSeq, Apr 2016]

Expression: Biased expression in brain (RPKM 17.7) and adrenal (RPKM 0.7)

Orthologs: mouse

Gene size: 60548bp

Exon count: 26