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trafficking protein particle complex subunit 2; Sedlin (TRAPPC2, SEDL)
Function:
- prevents MBP1-mediated transcriptional repression & induction of cell death by ENO1 (putative)
- may play a role in vesicular transport from endoplasmic reticulum to Golgi
- part of the multisubunit TRAPP complex (transport protein particle complex)
- interacts with ENO1, PITX1 & SF1
Structure:
- belongs to the TRAPP small subunits family, Sedlin subfamily
Compartment:
- cytoplasm, perinuclear region
- endoplasmic reticulum
- Golgi
- localized in perinuclear granular structures
Alternative splicing:
- named isoforms=3
- additional isoforms seem to exist
Expression:
- widely expressed
- expressed in brain, heart, kidney, liver, lung, pancreas, placenta, skeletal muscle, fetal cartilage, fibroblasts, placenta & lymphocytes
Pathology:
- defects in TRAPPC2 are the cause of spondyloepiphyseal dysplasia tarda
Genetics:
- there are 2 copies of the gene for this protein: one on chromosome X & the other on chromosome 19
- the one on 19 is said to be a processed pseudogene that shares a non-coding exon with ZNF547
General
carrier protein (transporter)
Properties
SIZE: entity length = 140 aa
MW = 16 kD
COMPARTMENT: cytoplasm
cell nucleus
golgi
Database Correlations
OMIM correlations
MORBIDMAP 300202
UniProt P0DI81
Pfam PF04628
Entrez Gene 6399
Kegg hsa:6399
References
- UniProt :accession O14582
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/TRAPPC2
Component-of
transport protein particle complex (TRAPP complex)