DISEASES

Disease-gene associations mined from literature

Literature on SEC61A1

SEC61A1 [ENSP00000243253]

Protein transport protein Sec61 subunit alpha isoform 1; Component of SEC61 channel-forming translocon complex that mediates transport of signal peptide-containing precursor polypeptides across endoplasmic reticulum (ER). Forms a ribosome receptor and a gated pore in the ER membrane, both functions required for cotranslational translocation of nascent polypeptides (PubMed:22375059, PubMed:28782633, PubMed:29719251). May cooperate with auxiliary protein SEC62, SEC63 and HSPA5/BiP to enable post-translational transport of small presecretory proteins . Controls the passive efflux of calcium ions from the ER lumen to the cytosol through SEC61 channel, contributing to the maintenance of cellular calcium homeostasis . Plays a critical role in nephrogenesis, specifically at pronephros stage (By similarity). ; Belongs to the SecY/SEC61-alpha family.

Synonyms:  SEC61A1,  SEC61A1p,  hSEC61A1,  B3KNF6,  B4DR61 ...

Linkouts:  STRING  Pharos  UniProt  OMIM