SEC31A (SEC31 homolog A, COPII coat complex component)

2003-05-01  

Identity

HGNC
SEC31A
LOCATION
4q21.22
LOCUSID
22872
ALIAS
ABP125,ABP130,HSPC275,HSPC334,NEDSOSB,SEC31L1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 22872
MIM: 610257
HGNC: 17052
Ensembl: ENSG00000138674

Variants:

dbSNP: 22872
ClinVar: 22872
TCGA: ENSG00000138674
COSMIC: SEC31A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000138674ENST00000264405H7BXG7
ENSG00000138674ENST00000311785O94979
ENSG00000138674ENST00000348405O94979
ENSG00000138674ENST00000348405A0A024RDH6
ENSG00000138674ENST00000355196O94979
ENSG00000138674ENST00000355196A0A024RDD3
ENSG00000138674ENST00000395310O94979
ENSG00000138674ENST00000395310A0A024RDD3
ENSG00000138674ENST00000443462O94979
ENSG00000138674ENST00000448323O94979
ENSG00000138674ENST00000448323A0A024RDD3
ENSG00000138674ENST00000500777O94979
ENSG00000138674ENST00000503058H0Y9T9
ENSG00000138674ENST00000503210D6RBT0
ENSG00000138674ENST00000503937H0Y8W8
ENSG00000138674ENST00000505434D6REA9
ENSG00000138674ENST00000505472D6REX3
ENSG00000138674ENST00000505984O94979
ENSG00000138674ENST00000506495D6REC0
ENSG00000138674ENST00000507051U3KQR3
ENSG00000138674ENST00000507340D6RAB3
ENSG00000138674ENST00000507676U3KQC9
ENSG00000138674ENST00000507816D6RHE8
ENSG00000138674ENST00000507828H0YAB3
ENSG00000138674ENST00000508479D6RHZ5
ENSG00000138674ENST00000508502O94979
ENSG00000138674ENST00000509142O94979
ENSG00000138674ENST00000510167H0Y8V7
ENSG00000138674ENST00000511338H0Y9V3
ENSG00000138674ENST00000512664H0Y9K1
ENSG00000138674ENST00000513323D6RE64
ENSG00000138674ENST00000513858O94979
ENSG00000138674ENST00000514326D6RCQ9
ENSG00000138674ENST00000515062H0YAF5

Expression (GTEx)

0
50
100
150
200
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Protein processing in endoplasmic reticulumKEGGko04141
Protein processing in endoplasmic reticulumKEGGhsa04141
COPII complexKEGGhsa_M00404
COPII complexKEGGM00404
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
Unfolded Protein Response (UPR)REACTOMER-HSA-381119
IRE1alpha activates chaperonesREACTOMER-HSA-381070
XBP1(S) activates chaperone genesREACTOMER-HSA-381038
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
Class I MHC mediated antigen processing & presentationREACTOMER-HSA-983169
Antigen Presentation: Folding, assembly and peptide loading of class I MHCREACTOMER-HSA-983170
MHC class II antigen presentationREACTOMER-HSA-2132295
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
384008802024SEC31A may be associated with pituitary hormone deficiency and gonadal dysgenesis.0
384008802024SEC31A may be associated with pituitary hormone deficiency and gonadal dysgenesis.0
304640552019SEC31A mutation affects ER homeostasis, causing a neurological syndrome.15
304640552019SEC31A mutation affects ER homeostasis, causing a neurological syndrome.15
296042732018Ubiquitin-specific protease 8 deubiquitinates Sec31A and decreases large COPII carriers and collagen IV secretion.7
296042732018Ubiquitin-specific protease 8 deubiquitinates Sec31A and decreases large COPII carriers and collagen IV secretion.7
255401962015A new role for annexin A11 in the early secretory pathway via stabilizing Sec31A protein at the endoplasmic reticulum exit sites (ERES).24
256679792015Structural analysis of the complex between penta-EF-hand ALG-2 protein and Sec31A peptide reveals a novel target recognition mechanism of ALG-2.17
255401962015A new role for annexin A11 in the early secretory pathway via stabilizing Sec31A protein at the endoplasmic reticulum exit sites (ERES).24
256679792015Structural analysis of the complex between penta-EF-hand ALG-2 protein and Sec31A peptide reveals a novel target recognition mechanism of ALG-2.17
250062452014Apoptosis-linked gene-2 (ALG-2)/Sec31 interactions regulate endoplasmic reticulum (ER)-to-Golgi transport: a potential effector pathway for luminal calcium.24
250062452014Apoptosis-linked gene-2 (ALG-2)/Sec31 interactions regulate endoplasmic reticulum (ER)-to-Golgi transport: a potential effector pathway for luminal calcium.24
233498702013CK2 phosphorylates Sec31 and regulates ER-To-Golgi trafficking.35
240693992013ALG-2 attenuates COPII budding in vitro and stabilizes the Sec23/Sec31A complex.23
233498702013CK2 phosphorylates Sec31 and regulates ER-To-Golgi trafficking.35

Citation

Dessen P

SEC31A (SEC31 homolog A, COPII coat complex component)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/42237/deep-insight-explorer/humanGenome