EPB41L1
entrez
2036
canonical
uniprot
Q9H4G0
canonical
ensembl
ENSG00000088367
resolver
ensp
ENSP00000202028
resolver
ensp
ENSP00000337168
resolver
ensp
ENSP00000363052
resolver
ensp
ENSP00000363057
resolver
ensp
ENSP00000363061
resolver
ensp
ENSP00000399214
resolver
ensp
ENSP00000487049
resolver
ensp
ENSP00000489867
resolver
ensp
ENSP00000557297
resolver
ensp
ENSP00000557298
resolver
ensp
ENSP00000557304
resolver
ensp
ENSP00000557305
resolver
ensp
ENSP00000557306
resolver
ensp
ENSP00000557307
resolver
ensp
ENSP00000557309
resolver
ensp
ENSP00000557311
resolver
ensp
ENSP00000557313
resolver
ensp
ENSP00000557324
resolver
ensp
ENSP00000557326
resolver
ensp
ENSP00000582921
resolver
ensp
ENSP00000582922
resolver
ensp
ENSP00000582924
resolver
ensp
ENSP00000611944
resolver
ensp
ENSP00000611946
resolver
ensp
ENSP00000676278
resolver
enst
ENST00000373941
resolver
enst
ENST00000373946
resolver
genesymbol
EPB41L1
resolver
genesymbol_syn
KIAA0338
resolver
hgnc
HGNC:3378
resolver
uniprot
A0A0C4DH22
resolver
uniprot
B7Z653
resolver
uniprot
E7EN13
resolver
uniprot
O15046
resolver
uniprot
Q4VXM6
resolver
uniprot
Q4VXM7
resolver
uniprot
Q4VXM8
resolver
uniprot
Q4VXN4
resolver
uniprot
Q6ZT61
resolver
uniprot
Q8IUU7
resolver
uniprot
Q96CV5
resolver
uniprot
Q96L65
resolver
uniprot_entry
A0A0C4DH22_HUMAN
resolver
uniprot_entry
B7Z653_HUMAN
resolver
uniprot_entry
E41L1_HUMAN
resolver
uniprot_sec
E7EN13
resolver
uniprot_sec
O15046
resolver
uniprot_sec
Q4VXM6
resolver
uniprot_sec
Q4VXM7
resolver
uniprot_sec
Q4VXM8
resolver
uniprot_sec
Q4VXN4
resolver
uniprot_sec
Q6ZT61
resolver
uniprot_sec
Q8IUU7
resolver
uniprot_sec
Q96CV5
resolver
uniprot_sec
Q96L65
resolver
amino_acid_sequence
MTTETGPDSEVKKAQEEAPQQPEAAAAVTTPVTPAGHGHPEANSNEKHPSQQDTRPAEQSLDMEEKDYSEADGLSERTTPSKAQKSPQKIAKKYKSAICRVTLLDASEYECEVEKHGRGQVLFDLVCEHLNLLEKDYFGLTFCDADSQKNWLDPSKEIKKQIRSSPWNFAFTVKFYPPDPAQLTEDITRYYLCLQLRADIITGRLPCSFVTHALLGSYAVQAELGDYDAEEHVGNYVSELRFAPNQTRELEERIMELHKTYRGMTPGEAEIHFLENAKKLSMYGVDLHHAKDSEGIDIMLGVCANGLLIYRDRLRINRFAWPKILKISYKRSNFYIKIRPGEYEQFESTIGFKLPNHRSAKRLWKVCIEHHTFFRLVSPEPPPKGFLVMGSKFRYSGRTQAQTRQASALIDRPAPFFERSSSKRYTMSRSLDGAEFSRPASVSENHDAGPDGDKRDEDGESGGQRSEAEEGEVRTPTKIKELKPEQETTPRHKQEFLDKPEDVLLKHQASINELKRTLKEPNSKLIHRDRDWERERRLPSSPASPSPKGTPEKANERAGLREGSEEKVKPPRPRAPESDTGDEDQDQERDTVFLKDNHLAIERKCSSITVSSTSSLEAEVDFTVIGDYHGSAFEDFSRSLPELDRDKSDSDTEGLLFSRDLNKGAPSQDDESGGIEDSPDRGACSTPDMPQFEPVKTETMTVSSLAIRKKIEPEAVLQTRVSAMDNTQQVDGSASVGREFIATTPSITTETISTTMENSLKSGKGAAAMIPGPQTVATEIRSLSPIIGKDVLTSTYGATAETLSTSTTTHVTKTVKGGFSETRIEKRIIITGDEDVDQDQALALAIKEAKLQHPDMLVTKAVVYRETDPSPEERDKKPQES
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder, autosomal dominant 11 (MRD11) [MIM:614257]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269|PubMed:21376300}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: May function to confer stability and plasticity to neuronal membrane via multiple interactions, including the spectrin-actin-based cytoskeleton, integral membrane channels and membrane-associated guanylate kinases.
uniprot
proteins
mass_dalton
98503
uniprot
proteins
pubmed
11136977
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21376300
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24129315
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
9205841
uniprot
proteins
sequence_length
881
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton.
uniprot
proteins