NECAP1
entrez
25977
canonical
uniprot
Q8NC96
canonical
ensembl
ENSG00000089818
resolver
ensp
ENSP00000341737
resolver
genesymbol
NECAP1
resolver
hgnc
HGNC:24539
resolver
uniprot
Q2NL73
resolver
uniprot
Q5XG95
resolver
uniprot
Q6NWY6
resolver
uniprot
Q8N153
resolver
uniprot
Q8NCB0
resolver
uniprot
Q9BU52
resolver
uniprot
Q9Y407
resolver
uniprot_entry
NECP1_HUMAN
resolver
uniprot_sec
Q2NL73
resolver
uniprot_sec
Q5XG95
resolver
uniprot_sec
Q6NWY6
resolver
uniprot_sec
Q8N153
resolver
uniprot_sec
Q8NCB0
resolver
uniprot_sec
Q9BU52
resolver
uniprot_sec
Q9Y407
resolver
amino_acid_sequence
MATELEYESVLCVKPDVSVYRIPPRASNRGYRASDWKLDQPDWTGRLRITSKGKTAYIKLEDKVSGELFAQAPVEQYPGIAVETVTDSSRYFVIRIQDGTGRSAFIGIGFTDRGDAFDFNVSLQDHFKWVKQESEISKESQEMDARPKLDLGFKEGQTIKLCIGNITNKKGGASKPRTARGGGLSLLPPPPGGKVTIPPPSSSVAISNHVTPPPIPKSNHGGSDADILLDLDSPAPVTTPAPTPVSVSNDLWGDFSTASSSVPNQAPQPSNWVQF
uniprot
proteins
disease_involvement
DISEASE: Developmental and epileptic encephalopathy 21 (DEE21) [MIM:615833]: A severe disease characterized by intractable seizures, profound global developmental delay, and persistent severe axial hypotonia as well as appendicular hypertonia. {ECO:0000269|PubMed:24399846}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Involved in endocytosis. {ECO:0000250}.
uniprot
proteins
mass_dalton
29737
uniprot
proteins
protein_family
NECAP family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24129315
uniprot
proteins
pubmed
24399846
uniprot
proteins
sequence_length
275
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasmic vesicle, clathrin-coated vesicle membrane {ECO:0000250}. Cell membrane {ECO:0000250}. Note=Colocalizes with AP-2 at the plasma membrane. {ECO:0000250}.
uniprot
proteins