SEC24D
entrez
9871
canonical
uniprot
O94855
canonical
ensembl
ENSG00000150961
resolver
ensp
ENSP00000280551
resolver
ensp
ENSP00000674013
resolver
genesymbol
SEC24D
resolver
genesymbol_syn
KIAA0755
resolver
hgnc
HGNC:10706
resolver
uniprot
A8K6V0
resolver
uniprot
Q8IYI7
resolver
uniprot_entry
A8K6V0_HUMAN
resolver
uniprot_entry
SC24D_HUMAN
resolver
uniprot_sec
Q8IYI7
resolver
amino_acid_sequence
MSQQGYVATPPYSQPQPGIGLSPPHYGHYGDPSHTASPTGMMKPAGPLGATATRGMLPPGPPPPGPHQFGQNGAHATGHPPQRFPGPPPVNNVASSHAPYQPSAQSSYPGPISTSSVTQLGSQLSAMQINSYGSGMAPPSQGPPGPLSATSLQTPPRPPQPSILQPGSQVLPPPPTTLNGPGASPLPLPMYRPDGLSGPPPPNAQYQPPPLPGQTLGAGYPPQQANSGPQMAGAQLSYPGGFPGGPAQMAGPPQPQKKLDPDSIPSPIQVIENDRASRGGQVYATNTRGQIPPLVTTDCMIQDQGNASPRFIRCTTYCFPCTSDMAKQAQIPLAAVIKPFATIPSNESPLYLVNHGESGPVRCNRCKAYMCPFMQFIEGGRRYQCGFCNCVNDVPPFYFQHLDHIGRRLDHYEKPELSLGSYEYVATLDYCRKSKPPNPPAFIFMIDVSYSNIKNGLVKLICEELKTMLEKIPKEEQEETSAIRVGFITYNKVLHFFNVKSNLAQPQMMVVTDVGEVFVPLLDGFLVNYQESQSVIHNLLDQIPDMFADSNENETVFAPVIQAGMEALKAADCPGKLFIFHSSLPTAEAPGKLKNRDDKKLVNTDKEKILFQPQTNVYDSLAKDCVAHGCSVTLFLFPSQYVDVASLGLVPQLTGGTLYKYNNFQMHLDRQQFLNDLRNDIEKKIGFDAIMRVRTSTGFRATDFFGGILMNNTTDVEMAAIDCDKAVTVEFKHDDKLSEDSGALIQCAVLYTTISGQRRLRIHNLGLNCSSQLADLYKSCETDALINFFAKSAFKAVLHQPLKVIREILVNQTAHMLACYRKNCASPSAASQLILPDSMKVLPVYMNCLLKNCVLLSRPEISTDERAYQRQLVMTMGVADSQLFFYPQLLPIHTLDVKSTMLPAAVRCSESRLSEEGIFLLANGLHMFLWLGVSSPPELIQGIFNVPSFAHINTDMTLLPEVGNPYSQQLRMIMGIIQQKRPYSMKLTIVKQREQPEMVFRQFLVEDKGLYGGSSYVDFLCCVHKEICQLLN
uniprot
proteins
disease_involvement
DISEASE: Cole-Carpenter syndrome 2 (CLCRP2) [MIM:616294]: A form of Cole-Carpenter syndrome, a disorder characterized by features of osteogenesis imperfecta such as bone deformities and severe bone fragility with frequent fractures, in association with craniosynostosis, ocular proptosis, hydrocephalus, growth failure and distinctive facial features. Craniofacial findings include marked frontal bossing, midface hypoplasia, and micrognathia. Despite the craniosynostosis and hydrocephalus, intellectual development is normal. CLCRP2 inheritance is autosomal recessive. {ECO:0000269|PubMed:25683121}. 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 (PubMed:17499046, PubMed:18843296, PubMed:20427317). Plays a central role in cargo selection within the COPII complex and together with SEC24C may have a different specificity compared to SEC24A and SEC24B (PubMed:17499046, PubMed:18843296, PubMed:20427317). May more specifically package GPI-anchored proteins through the cargo receptor TMED10 (PubMed:20427317). May also be specific for IxM motif-containing cargos like the SNAREs GOSR2 and STX5 (PubMed:18843296). {ECO:0000269|PubMed:17499046, ECO:0000269|PubMed:18843296, ECO:0000269|PubMed:20427317}.
uniprot
proteins
mass_dalton
113010
uniprot
proteins
protein_family
SEC23/SEC24 family
uniprot
proteins
protein_family
SEC24 subfamily
uniprot
proteins
pubmed
10329445
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17499046
uniprot
proteins
pubmed
18843296
uniprot
proteins
pubmed
20427317
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24405750
uniprot
proteins
pubmed
25683121
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27551091
uniprot
proteins
pubmed
27802162
uniprot
proteins
pubmed
9872452
uniprot
proteins
sequence_length
1032
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasmic vesicle, COPII-coated vesicle membrane {ECO:0000269|PubMed:10329445}; Peripheral membrane protein {ECO:0000250|UniProtKB:P53992}; Cytoplasmic side {ECO:0000250|UniProtKB:P53992}. Endoplasmic reticulum membrane {ECO:0000305|PubMed:10329445}; Peripheral membrane protein {ECO:0000250|UniProtKB:P53992}; Cytoplasmic side {ECO:0000250|UniProtKB:P53992}. Cytoplasm, cytosol {ECO:0000250|UniProtKB:P53992}.
uniprot
proteins