SEC23A
entrez
10484
canonical
uniprot
Q15436
canonical
ensembl
ENSG00000100934
resolver
ensp
ENSP00000306881
resolver
ensp
ENSP00000527801
resolver
ensp
ENSP00000750357
resolver
genesymbol
SEC23A
resolver
hgnc
HGNC:10701
resolver
uniprot
B2R5P4
resolver
uniprot
B3KXI2
resolver
uniprot
Q8NE16
resolver
uniprot_entry
SC23A_HUMAN
resolver
uniprot_sec
B2R5P4
resolver
uniprot_sec
B3KXI2
resolver
uniprot_sec
Q8NE16
resolver
amino_acid_sequence
MTTYLEFIQQNEERDGVRFSWNVWPSSRLEATRMVVPVAALFTPLKERPDLPPIQYEPVLCSRTTCRAVLNPLCQVDYRAKLWACNFCYQRNQFPPSYAGISELNQPAELLPQFSSIEYVVLRGPQMPLIFLYVVDTCMEDEDLQALKESMQMSLSLLPPTALVGLITFGRMVQVHELGCEGISKSYVFRGTKDLSAKQLQEMLGLSKVPLTQATRGPQVQQPPPSNRFLQPVQKIDMNLTDLLGELQRDPWPVPQGKRPLRSSGVALSIAVGLLECTFPNTGARIMMFIGGPATQGPGMVVGDELKTPIRSWHDIDKDNAKYVKKGTKHFEALANRAATTGHVIDIYACALDQTGLLEMKCCPNLTGGYMVMGDSFNTSLFKQTFQRVFTKDMHGQFKMGFGGTLEIKTSREIKISGAIGPCVSLNSKGPCVSENEIGTGGTCQWKICGLSPTTTLAIYFEVVNQHNAPIPQGGRGAIQFVTQYQHSSGQRRIRVTTIARNWADAQTQIQNIAASFDQEAAAILMARLAIYRAETEEGPDVLRWLDRQLIRLCQKFGEYHKDDPSSFRFSETFSLYPQFMFHLRRSSFLQVFNNSPDESSYYRHHFMRQDLTQSLIMIQPILYAYSFSGPPEPVLLDSSSILADRILLMDTFFQILIYHGETIAQWRKSGYQDMPEYENFRHLLQAPVDDAQEILHSRFPMPRYIDTEHGGSQARFLLSKVNPSQTHNNMYAWGQESGAPILTDDVSLQVFMDHLKKLAVSSAA
uniprot
proteins
disease_involvement
DISEASE: Craniolenticulosutural dysplasia (CLSD) [MIM:607812]: Autosomal recessive syndrome characterized by late-closing fontanels, sutural cataracts, facial dysmorphisms and skeletal defects. {ECO:0000269|PubMed:16980979}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicles and the selection of cargo molecules for their transport to the Golgi complex. Required for the translocation of insulin-induced glucose transporter SLC2A4/GLUT4 to the cell membrane (By similarity). {ECO:0000250|UniProtKB:Q01405, ECO:0000269|PubMed:16980979, ECO:0000269|PubMed:17499046, ECO:0000269|PubMed:18843296, ECO:0000269|PubMed:27551091, ECO:0000269|PubMed:8898360}.
uniprot
proteins
mass_dalton
86161
uniprot
proteins
mutagenesis
MUTAGEN 628; /note="F->A: Decreased interaction with MIA3; when associated with A-681."; /evidence="ECO:0000269|PubMed:27551091"; MUTAGEN 672; /note="Y->K: Decreased interaction with MIA3; when associated with A-678."; /evidence="ECO:0000269|PubMed:27551091"; MUTAGEN 678; /note="Y->A: Decreased interaction with MIA3; when associated with K-672."; /evidence="ECO:0000269|PubMed:27551091"; MUTAGEN 681; /note="F->A: Decreased interaction with MIA3; when associated with A-628."; /evidence="ECO:0000269|PubMed:27551091
uniprot
proteins
protein_family
SEC23 subfamily
uniprot
proteins
protein_family
SEC23/SEC24 family
uniprot
proteins
pubmed
12508121
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16980979
uniprot
proteins
pubmed
17192411
uniprot
proteins
pubmed
17499046
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18843296
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27551091
uniprot
proteins
pubmed
28442536
uniprot
proteins
pubmed
31806350
uniprot
proteins
pubmed
34349020
uniprot
proteins
pubmed
8898360
uniprot
proteins
sequence_length
765
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasmic vesicle, COPII-coated vesicle membrane {ECO:0000305|PubMed:8898360}; Peripheral membrane protein {ECO:0000269|PubMed:8898360}; Cytoplasmic side {ECO:0000269|PubMed:8898360}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:8898360}; Peripheral membrane protein {ECO:0000269|PubMed:8898360}; Cytoplasmic side {ECO:0000269|PubMed:8898360}. Cytoplasm, cytosol {ECO:0000269|PubMed:8898360}. Note=Enriched at endoplasmic reticulum exit sites, also known as transitional endoplasmic reticulum (tER). {ECO:0000269|PubMed:28442536, ECO:0000269|PubMed:8898360}.
uniprot
proteins