DENND5A
entrez
23258
canonical
uniprot
Q6IQ26
canonical
ensembl
ENSG00000184014
resolver
ensp
ENSP00000328524
resolver
ensp
ENSP00000435866
resolver
ensp
ENSP00000505621
resolver
ensp
ENSP00000506456
resolver
enst
ENST00000681203
resolver
genesymbol
DENND5A
resolver
genesymbol_syn
KIAA1091
resolver
genesymbol_syn
RAB6IP1
resolver
hgnc
HGNC:19344
resolver
uniprot
A0A7P0Z4N9
resolver
uniprot
B4DJ15
resolver
uniprot
E9PS91
resolver
uniprot
Q96GN3
resolver
uniprot
Q9H6U7
resolver
uniprot
Q9UFV0
resolver
uniprot
Q9UPR1
resolver
uniprot_entry
A0A7P0Z4N9_HUMAN
resolver
uniprot_entry
DEN5A_HUMAN
resolver
uniprot_sec
B4DJ15
resolver
uniprot_sec
E9PS91
resolver
uniprot_sec
Q96GN3
resolver
uniprot_sec
Q9H6U7
resolver
uniprot_sec
Q9UFV0
resolver
uniprot_sec
Q9UPR1
resolver
amino_acid_sequence
MSGGGGGGGSAPSRFADYFVICGLDTETGLEPDELSALCQYIQASKARDGASPFISSTTEGENFEQTPLRRTFKSKVLARYPENVEWNPFDQDAVGMLCMPKGLAFKTQADPREPQFHAFIITREDGSRTFGFALTFYEEVTSKQICSAMQTLYHMHNAEYDVLHAPPADDRDQSSMEDGEDTPVTKLQRFNSYDISRDTLYVSKCICLITPMSFMKACRSVLEQLHQAVTSPQPPPLPLESYIYNVLYEVPLPPPGRSLKFSGVYGPIICQRPSTNELPLFDFPVKEVFELLGVENVFQLFTCALLEFQILLYSQHYQRLMTVAETITALMFPFQWQHVYVPILPASLLHFLDAPVPYLMGLHSNGLDDRSKLELPQEANLCFVDIDNHFIELPEDLPQFPNKLEFVQEVSEILMAFGIPPEGNLHCSESASKLKRLRASELVSDKRNGNIAGSPLHSYELLKENETIARLQALVKRTGVSLEKLEVREDPSSNKDLKVQCDEEELRIYQLNIQIREVFANRFTQMFADYEVFVIQPSQDKESWFTNREQMQNFDKASFLSDQPEPYLPFLSRFLETQMFASFIDNKIMCHDDDDKDPVLRVFDSRVDKIRLLNVRTPTLRTSMYQKCTTVDEAEKAIELRLAKIDHTAIHPHLLDMKIGQGKYEPGFFPKLQSDVLSTGPASNKWTKRNAPAQWRRKDRQKQHTEHLRLDNDQREKYIQEARTMGSTIRQPKLSNLSPSVIAQTNWKFVEGLLKECRNKTKRMLVEKMGREAVELGHGEVNITGVEENTLIASLCDLLERIWSHGLQVKQGKSALWSHLLHYQDNRQRKLTSGSLSTSGILLDSERRKSDASSLMPPLRISLIQDMRHIQNIGEIKTDVGKARAWVRLSMEKKLLSRHLKQLLSDHELTKKLYKRYAFLRCDDEKEQFLYHLLSFNAVDYFCFTNVFTTILIPYHILIVPSKKLGGSMFTANPWICISGELGETQIMQIPRNVLEMTFECQNLGKLTTVQIGHDNSGLYAKWLVEYVMVRNEITGHTYKFPCGRWLGKGMDDGSLERILVGELLTSQPEVDERPCRTPPLQQSPSVIRRLVTISPNNKPKLNTGQIQESIGEAVNGIVKHFHKPEKERGSLTLLLCGECGLVSALEQAFQHGFKSPRLFKNVFIWDFLEKAQTYYETLEKNEVVPEENWHTRARNFCRFVTAINNTPRNIGKDGKFQMLVCLGARDHLLHHWIALLADCPITAHMYEDVALIKDHTLVNSLIRVLQTLQEFNITLETSLVKGIDI
uniprot
proteins
disease_involvement
DISEASE: Developmental and epileptic encephalopathy 49 (DEE49) [MIM:617281]: A form of epileptic encephalopathy, a heterogeneous group of severe 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. DEE49 is a severe autosomal recessive form characterized by onset of seizures in the neonatal period, global developmental delay, intellectual disability, and additionally cerebral calcifications and coarse facial features. {ECO:0000269|PubMed:27431290, ECO:0000269|PubMed:27866705}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Guanine nucleotide exchange factor (GEF) which may activate RAB6A and RAB39A and/or RAB39B. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form. Involved in the negative regulation of neurite outgrowth (By similarity). {ECO:0000250|UniProtKB:G3V7Q0, ECO:0000269|PubMed:20937701}.
uniprot
proteins
mass_dalton
147096
uniprot
proteins
protein_family
RAB6IP1 family
uniprot
proteins
pubmed
10470851
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
20937701
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
27431290
uniprot
proteins
pubmed
27866705
uniprot
proteins
sequence_length
1287
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000250|UniProtKB:Q6PAL8}.
uniprot
proteins