SEC63 (SEC63 homolog, protein translocation regulator)

2003-06-01  

Identity

HGNC
LOCATION
6q21
LOCUSID
ALIAS
DNAJC23,ERdj2,PCLD2,PRO2507,SEC63L
FUSION GENES

Other Information

Locus ID:

NCBI: 11231
MIM: 608648
HGNC: 21082
Ensembl: ENSG00000025796

Variants:

dbSNP: 11231
ClinVar: 11231
TCGA: ENSG00000025796
COSMIC: SEC63

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000025796ENST00000369002Q9UGP8
ENSG00000025796ENST00000369002A0A0S2Z5M1
ENSG00000025796ENST00000429168A6PVC9
ENSG00000025796ENST00000446496F8WB27

Expression (GTEx)

0
10
20
30
40
50
60
70
80

Pathways

PathwaySourceExternal ID
Protein exportKEGGko03060
Protein exportKEGGhsa03060
Protein processing in endoplasmic reticulumKEGGko04141
Protein processing in endoplasmic reticulumKEGGhsa04141
Metabolism of proteinsREACTOMER-HSA-392499
Unfolded Protein Response (UPR)REACTOMER-HSA-381119
IRE1alpha activates chaperonesREACTOMER-HSA-381070
XBP1(S) activates chaperone genesREACTOMER-HSA-381038

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
151335102004Mutations in SEC63 cause autosomal dominant polycystic liver disease.75
223750592012Different effects of Sec61α, Sec62 and Sec63 depletion on transport of polypeptides into the endoplasmic reticulum of mammalian cells.44
204089552011Patients with isolated polycystic liver disease referred to liver centres: clinical characterization of 137 cases.34
168359032006Extensive mutational analysis of PRKCSH and SEC63 broadens the spectrum of polycystic liver disease.19
200959892010Secondary and tertiary structure modeling reveals effects of novel mutations in polycystic liver disease genes PRKCSH and SEC63.12
232097132012Loss of heterozygosity is present in SEC63 germline carriers with polycystic liver disease.11
182243322008Cysts of PRKCSH mutated polycystic liver disease patients lack hepatocystin but express Sec63p.7
212519122011An interaction between human Sec63 and nucleoredoxin may provide the missing link between the SEC63 gene and polycystic liver disease.6
231666192012Role of human sec63 in modulating the steady-state levels of multi-spanning membrane proteins.6
232875492013CK2 phosphorylation of human Sec63 regulates its interaction with Sec62.2

Citation

Dessen P

SEC63 (SEC63 homolog, protein translocation regulator)

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

Online version: http://atlasgeneticsoncology.org/gene/42242/sec63