SEC23B
entrez
10483
canonical
uniprot
Q15437
canonical
ensembl
ENSG00000101310
resolver
ensp
ENSP00000262544
resolver
ensp
ENSP00000338844
resolver
ensp
ENSP00000366685
resolver
ensp
ENSP00000496460
resolver
ensp
ENSP00000497473
resolver
ensp
ENSP00000544331
resolver
ensp
ENSP00000544335
resolver
ensp
ENSP00000544338
resolver
ensp
ENSP00000544339
resolver
ensp
ENSP00000544340
resolver
ensp
ENSP00000599196
resolver
ensp
ENSP00000619771
resolver
ensp
ENSP00000619772
resolver
enst
ENST00000262544
resolver
enst
ENST00000336714
resolver
enst
ENST00000377465
resolver
enst
ENST00000643747
resolver
enst
ENST00000650089
resolver
enst
ENST00000874272
resolver
enst
ENST00000874276
resolver
enst
ENST00000874279
resolver
enst
ENST00000874280
resolver
enst
ENST00000874281
resolver
enst
ENST00000929137
resolver
enst
ENST00000949712
resolver
enst
ENST00000949713
resolver
genesymbol
SEC23B
resolver
hgnc
HGNC:10702
resolver
uniprot
A0A2R8YFH5
resolver
uniprot
D3DW33
resolver
uniprot
Q503A9
resolver
uniprot
Q5W183
resolver
uniprot
Q9BS15
resolver
uniprot
Q9BSI2
resolver
uniprot
Q9H1D7
resolver
uniprot_entry
A0A2R8YFH5_HUMAN
resolver
uniprot_entry
SC23B_HUMAN
resolver
uniprot_sec
D3DW33
resolver
uniprot_sec
Q503A9
resolver
uniprot_sec
Q5W183
resolver
uniprot_sec
Q9BS15
resolver
uniprot_sec
Q9BSI2
resolver
uniprot_sec
Q9H1D7
resolver
amino_acid_sequence
MATYLEFIQQNEERDGVRFSWNVWPSSRLEATRMVVPLACLLTPLKERPDLPPVQYEPVLCSRPTCKAVLNPLCQVDYRAKLWACNFCFQRNQFPPAYGGISEVNQPAELMPQFSTIEYVIQRGAQSPLIFLYVVDTCLEEDDLQALKESLQMSLSLLPPDALVGLITFGRMVQVHELSCEGISKSYVFRGTKDLTAKQIQDMLGLTKPAMPMQQARPAQPQEHPFASSRFLQPVHKIDMNLTDLLGELQRDPWPVTQGKRPLRSTGVALSIAVGLLEGTFPNTGARIMLFTGGPPTQGPGMVVGDELKIPIRSWHDIEKDNARFMKKATKHYEMLANRTAANGHCIDIYACALDQTGLLEMKCCANLTGGYMVMGDSFNTSLFKQTFQRIFTKDFNGDFRMAFGATLDVKTSRELKIAGAIGPCVSLNVKGPCVSENELGVGGTSQWKICGLDPTSTLGIYFEVVNQHNTPIPQGGRGAIQFVTHYQHSSTQRRIRVTTIARNWADVQSQLRHIEAAFDQEAAAVLMARLGVFRAESEEGPDVLRWLDRQLIRLCQKFGQYNKEDPTSFRLSDSFSLYPQFMFHLRRSPFLQVFNNSPDESSYYRHHFARQDLTQSLIMIQPILYSYSFHGPPEPVLLDSSSILADRILLMDTFFQIVIYLGETIAQWRKAGYQDMPEYENFKHLLQAPLDDAQEILQARFPMPRYINTEHGGSQARFLLSKVNPSQTHNNLYAWGQETGAPILTDDVSLQVFMDHLKKLAVSSAC
uniprot
proteins
disease_involvement
DISEASE: Cowden syndrome 7 (CWS7) [MIM:616858]: A form of Cowden syndrome, a hamartomatous polyposis syndrome with age-related penetrance. Cowden syndrome is characterized by hamartomatous lesions affecting derivatives of ectodermal, mesodermal and endodermal layers, macrocephaly, facial trichilemmomas (benign tumors of the hair follicle infundibulum), acral keratoses, papillomatous papules, and elevated risk for development of several types of malignancy, particularly breast carcinoma in women and thyroid carcinoma in both men and women. Colon cancer and renal cell carcinoma have also been reported. Hamartomas can be found in virtually every organ, but most commonly in the skin, gastrointestinal tract, breast and thyroid. CWS7 inheritance is autosomal dominant. {ECO:0000269|PubMed:26522472}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Anemia, congenital dyserythropoietic, 2 (CDAN2) [MIM:224100]: An autosomal recessive blood disorder characterized by morphological abnormalities of erythroblasts, ineffective erythropoiesis, normocytic anemia, iron overload, jaundice, and variable splenomegaly. Ultrastructural features include bi- or multinucleated erythroblasts in bone marrow, karyorrhexis, and the presence of Gaucher-like bone marrow histiocytes. The main biochemical feature of the disease is defective glycosylation of some red blood cells membrane proteins. {ECO:0000269|PubMed:19561605, ECO:0000269|PubMed:19621418, ECO:0000269|PubMed:33159567}. 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. {ECO:0000250|UniProtKB:Q15436}.
uniprot
proteins
mass_dalton
86479
uniprot
proteins
protein_family
SEC23 subfamily
uniprot
proteins
protein_family
SEC23/SEC24 family
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19561605
uniprot
proteins
pubmed
19621418
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
26522472
uniprot
proteins
pubmed
33159567
uniprot
proteins
pubmed
8898360
uniprot
proteins
sequence_length
767
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasmic vesicle, COPII-coated vesicle membrane {ECO:0000250|UniProtKB:Q15436}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q15436}; Cytoplasmic side {ECO:0000250|UniProtKB:Q15436}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:26522472}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q15436}; Cytoplasmic side {ECO:0000250|UniProtKB:Q15436}. Cytoplasm, cytosol {ECO:0000250|UniProtKB:Q15436}.
uniprot
proteins