SEC31A
entrez
22872
canonical
uniprot
O94979
canonical
ensembl
ENSG00000138674
resolver
ensp
ENSP00000264405
resolver
ensp
ENSP00000309070
resolver
ensp
ENSP00000337602
resolver
ensp
ENSP00000347329
resolver
ensp
ENSP00000378721
resolver
ensp
ENSP00000400926
resolver
ensp
ENSP00000408027
resolver
ensp
ENSP00000421633
resolver
ensp
ENSP00000424451
resolver
ensp
ENSP00000424635
resolver
ensp
ENSP00000425999
resolver
ensp
ENSP00000426569
resolver
ensp
ENSP00000426886
resolver
ensp
ENSP00000524436
resolver
ensp
ENSP00000524437
resolver
ensp
ENSP00000524438
resolver
ensp
ENSP00000524439
resolver
ensp
ENSP00000524440
resolver
ensp
ENSP00000524442
resolver
ensp
ENSP00000524447
resolver
ensp
ENSP00000524448
resolver
ensp
ENSP00000524450
resolver
ensp
ENSP00000524453
resolver
ensp
ENSP00000524461
resolver
ensp
ENSP00000524464
resolver
ensp
ENSP00000592861
resolver
ensp
ENSP00000592863
resolver
ensp
ENSP00000621416
resolver
ensp
ENSP00000621431
resolver
ensp
ENSP00000751961
resolver
ensp
ENSP00000777190
resolver
enst
ENST00000505472
resolver
genesymbol
SEC31A
resolver
genesymbol_syn
KIAA0905
resolver
genesymbol_syn
SEC31L1
resolver
hgnc
HGNC:17052
resolver
uniprot
A0A1S5UZ19
resolver
uniprot
B4DIW6
resolver
uniprot
B7ZKZ7
resolver
uniprot
B7ZL00
resolver
uniprot
D6REX3
resolver
uniprot
H7C2W3
resolver
uniprot
Q17RR5
resolver
uniprot
Q5H9P6
resolver
uniprot
Q5XG74
resolver
uniprot
Q659G7
resolver
uniprot
Q6ZU90
resolver
uniprot
Q7LCX9
resolver
uniprot
Q86TJ0
resolver
uniprot
Q8IZH4
resolver
uniprot
Q9P048
resolver
uniprot
Q9P0A6
resolver
uniprot
Q9UM05
resolver
uniprot
Q9UM06
resolver
uniprot_entry
A0A1S5UZ19_HUMAN
resolver
uniprot_entry
D6REX3_HUMAN
resolver
uniprot_entry
SC31A_HUMAN
resolver
uniprot_sec
B4DIW6
resolver
uniprot_sec
B7ZKZ7
resolver
uniprot_sec
B7ZL00
resolver
uniprot_sec
H7C2W3
resolver
uniprot_sec
Q17RR5
resolver
uniprot_sec
Q5H9P6
resolver
uniprot_sec
Q5XG74
resolver
uniprot_sec
Q659G7
resolver
uniprot_sec
Q6ZU90
resolver
uniprot_sec
Q7LCX9
resolver
uniprot_sec
Q86TJ0
resolver
uniprot_sec
Q8IZH4
resolver
uniprot_sec
Q9P048
resolver
uniprot_sec
Q9P0A6
resolver
uniprot_sec
Q9UM05
resolver
uniprot_sec
Q9UM06
resolver
amino_acid_sequence
MKLKEVDRTAMQAWSPAQNHPIYLATGTSAQQLDATFSTNASLEIFELDLSDPSLDMKSCATFSSSHRYHKLIWGPYKMDSKGDVSGVLIAGGENGNIILYDPSKIIAGDKEVVIAQNDKHTGPVRALDVNIFQTNLVASGANESEIYIWDLNNFATPMTPGAKTQPPEDISCIAWNRQVQHILASASPSGRATVWDLRKNEPIIKVSDHSNRMHCSGLAWHPDVATQMVLASEDDRLPVIQMWDLRFASSPLRVLENHARGILAIAWSMADPELLLSCGKDAKILCSNPNTGEVLYELPTNTQWCFDIQWCPRNPAVLSAASFDGRISVYSIMGGSTDGLRQKQVDKLSSSFGNLDPFGTGQPLPPLQIPQQTAQHSIVLPLKKPPKWIRRPVGASFSFGGKLVTFENVRMPSHQGAEQQQQQHHVFISQVVTEKEFLSRSDQLQQAVQSQGFINYCQKKIDASQTEFEKNVWSFLKVNFEDDSRGKYLELLGYRKEDLGKKIALALNKVDGANVALKDSDQVAQSDGEESPAAEEQLLGEHIKEEKEESEFLPSSGGTFNISVSGDIDGLITQALLTGNFESAVDLCLHDNRMADAIILAIAGGQELLARTQKKYFAKSQSKITRLITAVVMKNWKEIVESCDLKNWREALAAVLTYAKPDEFSALCDLLGTRLENEGDSLLQTQACLCYICAGNVEKLVACWTKAQDGSHPLSLQDLIEKVVILRKAVQLTQAMDTSTVGVLLAAKMSQYANLLAAQGSIAAALAFLPDNTNQPNIMQLRDRLCRAQGEPVAGHESPKIPYEKQQLPKGRPGPVAGHHQMPRVQTQQYYPHGENPPPPGFIMHGNVNPNAAGQLPTSPGHMHTQVPPYPQPQPYQPAQPYPFGTGGSAMYRPQQPVAPPTSNAYPNTPYISSASSYTGQSQLYAAQHQASSPTSSPATSFPPPPSSGASFQHGGPGAPPSSSAYALPPGTTGTLPAASELPASQRTGPQNGWNDPPALNRVPKKKKMPENFMPPVPITSPIMNPLGDPQSQMLQQQPSAPVPLSSQSSFPQPHLPGGQPFHGVQQPLGQTGMPPSFSKPNIEGAPGAPIGNTFQHVQSLPTKKITKKPIPDEHLILKTTFEDLIQRCLSSATDPQTKRKLDDASKRLEFLYDKLREQTLSPTITSGLHNIARSIETRNYSEGLTMHTHIVSTSNFSETSAFMPVLKVVLTQANKLGV
uniprot
proteins
disease_involvement
DISEASE: Halperin-Birk syndrome (HLBKS) [MIM:618651]: 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. {ECO:0000269|PubMed:30464055}. Note=The disease may be caused by variants affecting the gene represented in this entry.; DISEASE: Note=A chromosomal aberration involving SEC31A is associated with inflammatory myofibroblastic tumors (IMTs). Translocation t(2;4)(p23;q21) with ALK.
uniprot
proteins
function
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). {ECO:0000250|UniProtKB:Q9Z2Q1, ECO:0000269|PubMed:10788476}.
uniprot
proteins
mass_dalton
133015
uniprot
proteins
mutagenesis
MUTAGEN 647; /note="K->R: Does not abolish monoubiquitination by the BCR(KLHL12) E3 ubiquitin ligase complex, revealing flexibility of ubiquitination sites; when associated with R-1217."; /evidence="ECO:0000269|PubMed:22358839"; MUTAGEN 1217; /note="K->R: Does not abolish monoubiquitination by the BCR(KLHL12) E3 ubiquitin ligase complex, revealing flexibility of ubiquitination sites; when associated with R-647."; /evidence="ECO:0000269|PubMed:22358839
uniprot
proteins
post_translational_modification
PTM: Monoubiquitinated by the BCR(KLHL12) E3 ubiquitin ligase complex, leading to regulate the size of COPII coats. {ECO:0000269|PubMed:22358839, ECO:0000269|PubMed:27565346}.
uniprot
proteins
protein_family
WD repeat SEC31 family
uniprot
proteins
pubmed
10048485
uniprot
proteins
pubmed
10574704
uniprot
proteins
pubmed
10788476
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
16161041
uniprot
proteins
pubmed
16957052
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17196169
uniprot
proteins
pubmed
17428803
uniprot
proteins
pubmed
17499046
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22358839
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25201882
uniprot
proteins
pubmed
25667979
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27565346
uniprot
proteins
pubmed
27716508
uniprot
proteins
pubmed
28442536
uniprot
proteins
pubmed
30464055
uniprot
proteins
sequence_length
1220
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Cytoplasmic vesicle, COPII-coated vesicle membrane {ECO:0000269|PubMed:10788476, ECO:0000269|PubMed:16957052, ECO:0000269|PubMed:22358839, ECO:0000269|PubMed:27716508}; Peripheral membrane protein; Cytoplasmic side. Endoplasmic reticulum membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Cytoplasm, cytosol {ECO:0000269|PubMed:17428803}. Note=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). {ECO:0000250|UniProtKB:Q9Z2Q1, ECO:0000269|PubMed:17428803, ECO:0000269|PubMed:25201882, ECO:0000269|PubMed:28442536}.
uniprot
proteins