SEC61A1 (SEC61 translocon subunit alpha 1)

2008-09-01  

Identity

HGNC
LOCATION
3q21.3
LOCUSID
ALIAS
ADTKD5,HNFJ4,HSEC61,SEC61,SEC61A
FUSION GENES

Other Information

Locus ID:

NCBI: 29927
MIM: 609213
HGNC: 18276
Ensembl: ENSG00000058262

Variants:

dbSNP: 29927
ClinVar: 29927
TCGA: ENSG00000058262
COSMIC: SEC61A1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000058262ENST00000243253P61619
ENSG00000058262ENST00000243253B3KNF6
ENSG00000058262ENST00000424880P61619
ENSG00000058262ENST00000464451B4DR61
ENSG00000058262ENST00000481210C9JXC6

Expression (GTEx)

0
50
100
150
200
250
300
350
400

Pathways

PathwaySourceExternal ID
Protein exportKEGGko03060
Vibrio cholerae infectionKEGGko05110
Protein exportKEGGhsa03060
Vibrio cholerae infectionKEGGhsa05110
PhagosomeKEGGko04145
PhagosomeKEGGhsa04145
Protein processing in endoplasmic reticulumKEGGko04141
Protein processing in endoplasmic reticulumKEGGhsa04141
Sec61 complexKEGGhsa_M00401
Sec61 complexKEGGM00401
Metabolism of proteinsREACTOMER-HSA-392499
TranslationREACTOMER-HSA-72766
SRP-dependent cotranslational protein targeting to membraneREACTOMER-HSA-1799339
Unfolded Protein Response (UPR)REACTOMER-HSA-381119
IRE1alpha activates chaperonesREACTOMER-HSA-381070
XBP1(S) activates chaperone genesREACTOMER-HSA-381038
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
Class I MHC mediated antigen processing & presentationREACTOMER-HSA-983169
Antigen processing-Cross presentationREACTOMER-HSA-1236975
ER-Phagosome pathwayREACTOMER-HSA-1236974
Gene ExpressionREACTOMER-HSA-74160

References

Pubmed IDYearTitleCitations
386644722024Comparative analysis of SEC61A1 mutant R236C in two patient-derived cellular platforms.0
386644722024Comparative analysis of SEC61A1 mutant R236C in two patient-derived cellular platforms.0
350640742022Phenylbutyrate rescues the transport defect of the Sec61α mutations V67G and T185A for renin.9
350640742022Phenylbutyrate rescues the transport defect of the Sec61α mutations V67G and T185A for renin.9
342111172021An alternative pathway for membrane protein biogenesis at the endoplasmic reticulum.26
342111172021An alternative pathway for membrane protein biogenesis at the endoplasmic reticulum.26
323251412020Defective Sec61α1 underlies a novel cause of autosomal dominant severe congenital neutropenia.15
326929752020Structure of the Inhibited State of the Sec Translocon.28
323251412020Defective Sec61α1 underlies a novel cause of autosomal dominant severe congenital neutropenia.15
326929752020Structure of the Inhibited State of the Sec Translocon.28
311974532019Aberrant expression of Sec61α in esophageal cancers.1
311974532019Aberrant expression of Sec61α in esophageal cancers.1
287826332018Plasma cell deficiency in human subjects with heterozygous mutations in Sec61 translocon alpha 1 subunit (SEC61A1).34
295406782018Inhibition of Sec61-dependent translocation by mycolactone uncouples the integrated stress response from ER stress, driving cytotoxicity via translational activation of ATF4.38
299151472018Proteomics Reveals Scope of Mycolactone-mediated Sec61 Blockade and Distinctive Stress Signature.33

Citation

Dessen P

SEC61A1 (SEC61 translocon subunit alpha 1)

Atlas Genet Cytogenet Oncol Haematol. 2008-09-01

Online version: http://atlasgeneticsoncology.org/gene/50367/sec61a1