Gene: SEC61A1

Alternate names for this Gene: HNFJ4|HSEC61|SEC61|SEC61A

Gene Summary: The protein encoded by this gene belongs to the SECY/SEC61- alpha family. It appears to play a crucial role in the insertion of secretory and membrane polypeptides into the endoplasmic reticulum. This protein found to be tightly associated with membrane-bound ribosomes, either directly or through adaptor proteins. This gene encodes an alpha subunit of the heteromeric SEC61 complex, which also contains beta and gamma subunits.

Gene is located in Chromosome: 3

Location in Chromosome : 3q21.3

Description of this Gene: SEC61 translocon subunit alpha 1

Type of Gene: protein-coding

rs1553721236 in SEC61A1 gene and Decreased antibody level in blood PMID 28782633 2018 Plasma cell deficiency in human subjects with heterozygous mutations in Sec61 translocon alpha 1 subunit (SEC61A1).

rs879255648 in SEC61A1 gene and HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4 PMID 27392076 2016 Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia.