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

More general terms

• carrier protein (transporter)

Component of

• transport protein particle complex (TRAPP complex)

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=6399
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:6399
• OMIM: https://mirror.omim.org/entry/300202
• OMIM: https://mirror.omim.org/entry/313400
• UniProt: http://www.uniprot.org/uniprot/P0DI81.html