EFR3A
entrez
23167
canonical
uniprot
Q14156
canonical
ensembl
ENSG00000132294
resolver
ensp
ENSP00000254624
resolver
ensp
ENSP00000428086
resolver
ensp
ENSP00000577298
resolver
genesymbol
EFR3A
resolver
genesymbol_syn
KIAA0143
resolver
hgnc
HGNC:28970
resolver
uniprot
A7MD19
resolver
uniprot
Q2VPK2
resolver
uniprot
Q63HL7
resolver
uniprot
Q68DX1
resolver
uniprot
Q6IQ18
resolver
uniprot_entry
EFR3A_HUMAN
resolver
uniprot_sec
A7MD19
resolver
uniprot_sec
Q2VPK2
resolver
uniprot_sec
Q63HL7
resolver
uniprot_sec
Q68DX1
resolver
uniprot_sec
Q6IQ18
resolver
amino_acid_sequence
MPTRVCCCCSALRPRYKRLVDNIFPEDPKDGLVKTDMEKLTFYAVSAPEKLDRIGSYLAERLSRDVVRHRSGYVLIAMEALDQLLMACHSQSIKPFVESFLHMVAKLLESGEPKLQVLGTNSFVKFANIEEDTPSYHRRYDFFVSRFSAMCHSCHSDPEIRTEIRIAGIRGIQGVVRKTVNDELRATIWEPQHMDKIVPSLLFNMQKIEEVDSRIGPPSSPSATDKEENPAVLAENCFRELLGRATFGNMNNAVRPVFAHLDHHKLWDPNEFAVHCFKIIMYSIQAQYSHHVIQEILGHLDARKKDAPRVRAGIIQVLLEAVAIAAKGSIGPTVLEVFNTLLKHLRLSVEFEANDLQGGSVGSVNLNTSSKDNDEKIVQNAIIQTIGFFGSNLPDYQRSEIMMFIMGKVPVFGTSTHTLDISQLGDLGTRRIQIMLLRSLLMVTSGYKAKTIVTALPGSFLDPLLSPSLMEDYELRQLVLEVMHNLMDRHDNRAKLRGIRIIPDVADLKIKREKICRQDTSFMKKNGQQLYRHIYLGCKEEDNVQKNYELLYTSLALITIELANEEVVIDLIRLAIALQDSAIINEDNLPMFHRCGIMALVAAYLNFVSQMIAVPAFCQHVSKVIEIRTMEAPYFLPEHIFRDKCMLPKSLEKHEKDLYFLTNKIAESLGGSGYSVERLSVPYVPQVTDEDRLSRRKSIVDTVSIQVDILSNNVPSDDVVSNTEEITFEALKKAIDTSGMEEQEKEKRRLVIEKFQKAPFEEIAAQCESKANLLHDRLAQILELTIRPPPSPSGTLTITSGHAQYQSVPVYEMKFPDLCVY
uniprot
proteins
disease_involvement
DISEASE: Note=Genetic variations in EFR3A may be associated with susceptibility to autism. {ECO:0000305|PubMed:24860643}.
uniprot
proteins
function
FUNCTION: Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane (PubMed:23229899, PubMed:25608530, PubMed:26571211). The complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis (Probable). In the complex, EFR3A probably acts as the membrane-anchoring component (PubMed:23229899). Also involved in responsiveness to G protein-coupled receptors; it is however unclear whether this role is direct or indirect (PubMed:25380825). {ECO:0000269|PubMed:23229899, ECO:0000269|PubMed:25380825, ECO:0000269|PubMed:25608530, ECO:0000305}.
uniprot
proteins
mass_dalton
92924
uniprot
proteins
mutagenesis
MUTAGEN 6..9; /note="CCCC->SSSS: Induces localization to the cytosol."; /evidence="ECO:0000269|PubMed:23229899, ECO:0000269|PubMed:25380825
uniprot
proteins
post_translational_modification
PTM: Palmitoylated at its N-terminus, anchoring the protein to the plasma membrane. {ECO:0000269|PubMed:23229899, ECO:0000269|PubMed:25380825}.
uniprot
proteins
protein_family
EFR3 family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16421571
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18220336
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23229899
uniprot
proteins
pubmed
24860643
uniprot
proteins
pubmed
25380825
uniprot
proteins
pubmed
25608530
uniprot
proteins
pubmed
26571211
uniprot
proteins
pubmed
8590280
uniprot
proteins
sequence_length
821
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:23229899, ECO:0000269|PubMed:25380825}; Lipid-anchor {ECO:0000269|PubMed:23229899, ECO:0000269|PubMed:25380825}. Cytoplasm, cytosol {ECO:0000269|PubMed:25380825}. Note=Palmitoylation anchors the protein to the plasma membrane (PubMed:23229899, PubMed:25380825, PubMed:26571211). A small amount is observed in the cytosol (PubMed:25380825). {ECO:0000269|PubMed:23229899, ECO:0000269|PubMed:25380825, ECO:0000269|PubMed:26571211}.
uniprot
proteins