NAPB
entrez
63908
canonical
uniprot
Q9H115
canonical
ensembl
ENSG00000125814
resolver
ensp
ENSP00000366225
resolver
ensp
ENSP00000381459
resolver
ensp
ENSP00000413600
resolver
ensp
ENSP00000482826
resolver
ensp
ENSP00000643768
resolver
enst
ENST00000617876
resolver
genesymbol
NAPB
resolver
genesymbol_syn
SNAPB
resolver
hgnc
HGNC:15751
resolver
uniprot
A0A087WZQ7
resolver
uniprot
B4DK44
resolver
uniprot
Q4G0M0
resolver
uniprot
Q4G187
resolver
uniprot
Q5JXF9
resolver
uniprot
Q8N3C4
resolver
uniprot_entry
A0A087WZQ7_HUMAN
resolver
uniprot_entry
SNAB_HUMAN
resolver
uniprot_sec
B4DK44
resolver
uniprot_sec
Q4G0M0
resolver
uniprot_sec
Q4G187
resolver
uniprot_sec
Q5JXF9
resolver
uniprot_sec
Q8N3C4
resolver
amino_acid_sequence
MDNAGKEREAVQLMAEAEKRVKASHSFLRGLFGGNTRIEEACEMYTRAANMFKMAKNWSAAGNAFCQAAKLHMQLQSKHDSATSFVDAGNAYKKADPQEAINCLNAAIDIYTDMGRFTIAAKHHITIAEIYETELVDIEKAIAHYEQSADYYKGEESNSSANKCLLKVAAYAAQLEQYQKAIEIYEQVGANTMDNPLLKYSAKDYFFKAALCHFIVDELNAKLALEKYEEMFPAFTDSRECKLLKKLLEAHEEQNSEAYTEAVKEFDSISRLDQWLTTMLLRIKKSIQGDGEGDGDLK
uniprot
proteins
disease_involvement
DISEASE: Developmental and epileptic encephalopathy 107 (DEE107) [MIM:620033]: A form of epileptic encephalopathy, a heterogeneous group of early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE107 is an autosomal recessive form characterized by onset of seizures in the first months of life. Affected individuals have severe global developmental delay, profound intellectual disability, progressive microcephaly, and hypotonia. {ECO:0000269|PubMed:26235277, ECO:0000269|PubMed:28097321}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Required for vesicular transport between the endoplasmic reticulum and the Golgi apparatus. {ECO:0000250|UniProtKB:P28663}.
uniprot
proteins
mass_dalton
33557
uniprot
proteins
protein_family
SNAP family
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
26235277
uniprot
proteins
pubmed
28097321
uniprot
proteins
sequence_length
298
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}.
uniprot
proteins