SEC61A1 (SEC61 translocon subunit alpha 1)

2008-09-01  

Identity

HGNC
SEC61A1
LOCATION
3q21.3
LOCUSID
29927
ALIAS
ADTKD5,HNFJ4,HSEC61,SEC61,SEC61A
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
227969452012BiP-mediated closing of the Sec61 channel limits Ca2+ leakage from the ER.53
246998192014The pathogenic mechanism of the Mycobacterium ulcerans virulence factor, mycolactone, depends on blockade of protein translocation into the ER.50
223750592012Different effects of Sec61α, Sec62 and Sec63 depletion on transport of polypeptides into the endoplasmic reticulum of mammalian cells.44
211025572011Interaction of calmodulin with Sec61α limits Ca2+ leakage from the endoplasmic reticulum.32
244975442014An allosteric Sec61 inhibitor traps nascent transmembrane helices at the lateral gate.31
273920762016Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia.29
278215492016Mycolactone subverts immunity by selectively blocking the Sec61 translocon.28
225056072012TRC40 can deliver short secretory proteins to the Sec61 translocon.27
214069622011Sec61 complexes form ubiquitous ER Ca2+ leak channels.24
184800442008Control of translocation through the Sec61 translocon by nascent polypeptide structure within the ribosome.23

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