SEC31A
Protein transport protein Sec31A
Also known as: ABP125, ABP130, KIAA0905, SC31A_HUMAN, SEC31L1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O94979
- Gene
- SEC31A
- Ensembl
- ENSG00000138674
- Chromosome
- 4
- Canonical length
- 1220 aa
- Protein class
- Disease related genes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Transporters
- Subcellular location
- Vesicles,Cytosol
OverviewNCBI Gene
The protein encoded by this gene shares similarity with the yeast Sec31 protein, and is a component of the outer layer of the coat protein complex II (COPII). The encoded protein is involved in vesicle budding from the endoplasmic reticulum (ER) and contains multiple WD repeats near the N-terminus and a proline-rich region in the C-terminal half. It associates with the protein encoded by the SEC13 homolog, nuclear pore and COPII coat complex component (SEC13), and is required for ER-Golgi transport. Monoubiquitylation of this protein by CUL3-KLHL12 was found to regulate the size of COPII coats to accommodate unusually shaped cargo. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
Canonical amino-acid sequenceUniProt
1220 residues, UniProt reviewed canonical sequence.
>O94979|SEC31A
1 MKLKEVDRTA MQAWSPAQNH PIYLATGTSA QQLDATFSTN ASLEIFELDL SDPSLDMKSC
61 ATFSSSHRYH KLIWGPYKMD SKGDVSGVLI AGGENGNIIL YDPSKIIAGD KEVVIAQNDK
121 HTGPVRALDV NIFQTNLVAS GANESEIYIW DLNNFATPMT PGAKTQPPED ISCIAWNRQV
181 QHILASASPS GRATVWDLRK NEPIIKVSDH SNRMHCSGLA WHPDVATQMV LASEDDRLPV
241 IQMWDLRFAS SPLRVLENHA RGILAIAWSM ADPELLLSCG KDAKILCSNP NTGEVLYELP
301 TNTQWCFDIQ WCPRNPAVLS AASFDGRISV YSIMGGSTDG LRQKQVDKLS SSFGNLDPFG
361 TGQPLPPLQI PQQTAQHSIV LPLKKPPKWI RRPVGASFSF GGKLVTFENV RMPSHQGAEQ
421 QQQQHHVFIS QVVTEKEFLS RSDQLQQAVQ SQGFINYCQK KIDASQTEFE KNVWSFLKVN
481 FEDDSRGKYL ELLGYRKEDL GKKIALALNK VDGANVALKD SDQVAQSDGE ESPAAEEQLL
541 GEHIKEEKEE SEFLPSSGGT FNISVSGDID GLITQALLTG NFESAVDLCL HDNRMADAII
601 LAIAGGQELL ARTQKKYFAK SQSKITRLIT AVVMKNWKEI VESCDLKNWR EALAAVLTYA
661 KPDEFSALCD LLGTRLENEG DSLLQTQACL CYICAGNVEK LVACWTKAQD GSHPLSLQDL
721 IEKVVILRKA VQLTQAMDTS TVGVLLAAKM SQYANLLAAQ GSIAAALAFL PDNTNQPNIM
781 QLRDRLCRAQ GEPVAGHESP KIPYEKQQLP KGRPGPVAGH HQMPRVQTQQ YYPHGENPPP
841 PGFIMHGNVN PNAAGQLPTS PGHMHTQVPP YPQPQPYQPA QPYPFGTGGS AMYRPQQPVA
901 PPTSNAYPNT PYISSASSYT GQSQLYAAQH QASSPTSSPA TSFPPPPSSG ASFQHGGPGA
961 PPSSSAYALP PGTTGTLPAA SELPASQRTG PQNGWNDPPA LNRVPKKKKM PENFMPPVPI
1021 TSPIMNPLGD PQSQMLQQQP SAPVPLSSQS SFPQPHLPGG QPFHGVQQPL GQTGMPPSFS
1081 KPNIEGAPGA PIGNTFQHVQ SLPTKKITKK PIPDEHLILK TTFEDLIQRC LSSATDPQTK
1141 RKLDDASKRL EFLYDKLREQ TLSPTITSGL HNIARSIETR NYSEGLTMHT HIVSTSNFSE
1201 TSAFMPVLKV VLTQANKLGVLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SEC31A can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.42
- Highest tissue expression
- 182 nTPM
Expression across tissuesHPA
Tissue
- pancreas: 182 nTPM
- liver: 163 nTPM
- thyroid gland: 157 nTPM
- epididymis: 153 nTPM
- ovary: 153 nTPM
- blood vessel: 141 nTPM
Single-cell type
- pancreatic acinar cells: 493 nCPM
- salivary acinar cells: 423 nCPM
- somatotrophs: 419 nCPM
- gonadotrophs: 397 nCPM
- lactotrophs: 395 nCPM
- leydig cells: 353 nCPM
Immune cell
- NK-cell: 90 nTPM
- basophil: 85 nTPM
- non-classical monocyte: 84 nTPM
- MAIT T-cell: 81 nTPM
- intermediate monocyte: 74 nTPM
- myeloid DC: 73 nTPM
Brain region
- choroid plexus: 170 nTPM
- white matter: 99 nTPM
- cerebellum: 98 nTPM
- hypothalamus: 97 nTPM
- midbrain: 94 nTPM
- cerebral cortex: 92 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SEC31A.
Disease | AllUniProt
Conditions SEC31A is implicated in, by any mechanism.
- Halperin-Birk syndrome (HLBKS) MIM:618651
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 190 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies
Disease | ImmuneIEDB
Conditions an epitope on SEC31A was assayed in.
- skin melanoma T cell
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.44
- gnomAD pLI
- 0
- gnomAD missense Z
- 1.23
- DepMap mean gene effect
- -0.11
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- COPII-coated vesicle cargo loading
- endoplasmic reticulum organization
- endoplasmic reticulum to Golgi vesicle-mediated transport
- protein transport
- response to calcium ion
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of SEC31A in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SEC31A as an antibody target. Whether an autoantibody or antibody against SEC31A could matter depends on whether native SEC31A is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SEC31A is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label SEC31A as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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