SEC23IP (SEC23 interacting protein)

2014-11-01  

Identity

HGNC
LOCATION
10q26.11
LOCUSID
ALIAS
MSTP053,P125,P125A,iPLA1beta
FUSION GENES

Other Information

Locus ID:

NCBI: 11196
MIM: 617852
HGNC: 17018
Ensembl: ENSG00000107651

Variants:

dbSNP: 11196
ClinVar: 11196
TCGA: ENSG00000107651
COSMIC: SEC23IP

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000107651ENST00000369075Q9Y6Y8
ENSG00000107651ENST00000442952H7C4C4
ENSG00000107651ENST00000446561H7C0V8
ENSG00000107651ENST00000543134A0A0C4DH82

Expression (GTEx)

0
5
10
15
20
25
30
35

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
Transport to the Golgi and subsequent modificationREACTOMER-HSA-948021
ER to Golgi Anterograde TransportREACTOMER-HSA-199977
COPII (Coat Protein 2) Mediated Vesicle TransportREACTOMER-HSA-204005
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
245221812014A cascade of ER exit site assembly that is regulated by p125A and lipid signals.19
245221812014A cascade of ER exit site assembly that is regulated by p125A and lipid signals.19
203085722010Systematic discovery of nonobvious human disease models through orthologous phenotypes.159
206794332010p125A exists as part of the mammalian Sec13/Sec31 COPII subcomplex to facilitate ER-Golgi transport.26
203085722010Systematic discovery of nonobvious human disease models through orthologous phenotypes.159
206794332010p125A exists as part of the mammalian Sec13/Sec31 COPII subcomplex to facilitate ER-Golgi transport.26
192400612009Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.94
192400612009Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.94
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.83
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.83
156235292005p125 is localized in endoplasmic reticulum exit sites and involved in their organization.46
156235292005p125 is localized in endoplasmic reticulum exit sites and involved in their organization.46

Citation

Dessen P

SEC23IP (SEC23 interacting protein)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73090/sec23ip-(sec23-interacting-protein)