EXOC7
entrez
23265
canonical
uniprot
Q9UPT5
canonical
ensembl
ENSG00000182473
resolver
ensp
ENSP00000333806
resolver
ensp
ENSP00000334100
resolver
ensp
ENSP00000385066
resolver
ensp
ENSP00000404322
resolver
ensp
ENSP00000466682
resolver
ensp
ENSP00000468404
resolver
ensp
ENSP00000475431
resolver
ensp
ENSP00000489266
resolver
ensp
ENSP00000615974
resolver
enst
ENST00000406660
resolver
enst
ENST00000467929
resolver
enst
ENST00000607838
resolver
genesymbol
EXOC7
resolver
genesymbol_syn
EXO70
resolver
genesymbol_syn
KIAA1067
resolver
hgnc
HGNC:23214
resolver
uniprot
A0A0A0MTU2
resolver
uniprot
B4DJ07
resolver
uniprot
B5MC69
resolver
uniprot
B5MCY9
resolver
uniprot
B8XXP2
resolver
uniprot
Q8ND93
resolver
uniprot
Q8WV91
resolver
uniprot
Q96FF0
resolver
uniprot
Q9H8C3
resolver
uniprot
Q9H9X3
resolver
uniprot
Q9HA32
resolver
uniprot_entry
A0A0A0MTU2_HUMAN
resolver
uniprot_entry
B4DJ07_HUMAN
resolver
uniprot_entry
B5MCY9_HUMAN
resolver
uniprot_entry
EXOC7_HUMAN
resolver
uniprot_sec
B5MC69
resolver
uniprot_sec
B8XXP2
resolver
uniprot_sec
Q8ND93
resolver
uniprot_sec
Q8WV91
resolver
uniprot_sec
Q96FF0
resolver
uniprot_sec
Q9H8C3
resolver
uniprot_sec
Q9H9X3
resolver
uniprot_sec
Q9HA32
resolver
amino_acid_sequence
MIPPQEASARRREIEDKLKQEEETLSFIRDSLEKSDQLTKNMVSILSSFESRLMKLENSIIPVHKQTENLQRLQENVEKTLSCLDHVISYYHVASDTEKIIREGPTGRLEEYLGSMAKIQKAVEYFQDNSPDSPELNKVKLLFERGKEALESEFRSLMTRHSKVVSPVLILDLISGDDDLEAQEDVTLEHLPESVLQDVIRISRWLVEYGRNQDFMNVYYQIRSSQLDRSIKGLKEHFHKSSSSSGVPYSPAIPNKRKDTPTKKPVKRPGTIRKAQNLLKQYSQHGLDGKKGGSNLIPLEGLLPCTPRGGLPGPWINAACVCAADISPGHEHDFRVKHLSEALNDKHGPLAGRDDMLDVETDAYIHCVSAFVKLAQSEYQLLADIIPEHHQKKTFDSLIQDALDGLMLEGENIVSAARKAIVRHDFSTVLTVFPILRHLKQTKPEFDQVLQGTAASTKNKLPGLITSMETIGAKALEDFADNIKNDPDKEYNMPKDGTVHELTSNAILFLQQLLDFQETAGAMLASQETSSSATSYSSEFSKRLLSTYICKVLGNLQLNLLSKSKVYEDPALSAIFLHNNYNYILKSLEKSELIQLVAVTQKTAERSYREHIEQQIQTYQRSWLKVTDYIAEKNLPVFQPGVKLRDKERQIIKERFKGFNDGLEELCKIQKAWAIPDTEQRDRIRQAQKTIVKETYGAFLQKFGSVPFTKNPEKYIKYGVEQVGDMIDRLFDTSA
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with seizures and brain atrophy (NEDSEBA) [MIM:619072]: An autosomal recessive disorder characterized by brain atrophy, seizures, and developmental delay. Disease severity is variable. Severely affected individuals develop symptoms in utero, which may lead to spontaneous abortion. Patients at the mildest end of the phenotypic spectrum have onset of seizures later in childhood and show developmental delay with mildly impaired intellectual development and minimal brain atrophy. {ECO:0000269|PubMed:32103185}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane. In adipocytes, plays a crucial role in targeting SLC2A4 vesicle to the plasma membrane in response to insulin, perhaps directing the vesicle to the precise site of fusion (By similarity). It is required for neuron survival and plays an essential role in cortical development (By similarity). {ECO:0000250, ECO:0000250|UniProtKB:E7FC72}.
uniprot
proteins
mass_dalton
83382
uniprot
proteins
protein_family
EXO70 family
uniprot
proteins
pubmed
10470851
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16148947
uniprot
proteins
pubmed
16213214
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
32103185
uniprot
proteins
sequence_length
735
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000250|UniProtKB:O35250}. Cell membrane {ECO:0000250|UniProtKB:O35250}; Peripheral membrane protein {ECO:0000305}. Midbody, Midbody ring {ECO:0000269|PubMed:16213214}. Note=Translocates, as a preformed complex with EXOC3/SEC6 and EXOC4/SEC8, to the plasma membrane in response to insulin through the activation of ARHQ (By similarity). Colocalizes with CNTRL/centriolin at the midbody ring (PubMed:16213214). {ECO:0000250|UniProtKB:O35250, ECO:0000269|PubMed:16213214}.
uniprot
proteins