SEC31A
Domain
The ALG-2-binding site motif-2 (ABS-2) contains a PXPGF sequence that binds hydrophobic pocket 3 of PDCD6.
Function
Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER) (PubMed:10788476). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicles and the selection of cargo molecules (By similarity).
Involvement in disease
Halperin-Birk syndrome
HLBKS
An autosomal recessive, congenital neurodevelopmental disorder characterized by intrauterine growth retardation, microcephaly, marked developmental delay, spastic quadriplegia with profound contractures, pseudobulbar palsy with recurrent aspirations, epilepsy, dysmorphism, neurosensory deafness, optic nerve atrophy with no eye fixation, and death in early childhood. Brain imaging shows semilobar holoprosencephaly and agenesis of corpus callosum.
None
The disease may be caused by variants affecting the gene represented in this entry.
A chromosomal aberration involving SEC31A is associated with inflammatory myofibroblastic tumors (IMTs). Translocation t(2;4)(p23;q21) with ALK.
Post-translational modifications
Monoubiquitinated by the BCR(KLHL12) E3 ubiquitin ligase complex, leading to regulate the size of COPII coats.
Sequence Similarities
Belongs to the WD repeat SEC31 family.
Tissue Specificity
Abundantly and ubiquitously expressed.
Cellular localization
- Cytoplasm
- Cytoplasmic vesicle
- COPII-coated vesicle membrane
- Peripheral membrane protein
- Cytoplasmic side
- Endoplasmic reticulum membrane
- Peripheral membrane protein
- Cytoplasm
- Cytosol
- Associates with membranes in a GTP-dependent manner (By similarity). Localizes to endoplasmic reticulum exit sites (ERES), also known as transitional endoplasmic reticulum (tER) (PubMed:17428803, PubMed:25201882, PubMed:28442536).
Alternative names
KIAA0905, SEC31L1, HSPC275, HSPC334, SEC31A, Protein transport protein Sec31A, ABP125, ABP130, SEC31-like protein 1, SEC31-related protein A, Web1-like protein