EPB42
entrez
2038
canonical
uniprot
P16452
canonical
ensembl
ENSG00000166947
resolver
ensp
ENSP00000396616
resolver
ensp
ENSP00000497777
resolver
ensp
ENSP00000774925
resolver
genesymbol
EPB42
resolver
genesymbol_syn
E42P
resolver
hgnc
HGNC:3381
resolver
uniprot
Q4KKX0
resolver
uniprot
Q4VB97
resolver
uniprot_entry
EPB42_HUMAN
resolver
uniprot_sec
Q4KKX0
resolver
uniprot_sec
Q4VB97
resolver
amino_acid_sequence
MGQALGIKSCDFQAARNNEEHHTKALSSRRLFVRRGQPFTIILYFRAPVRAFLPALKKVALTAQTGEQPSKINRTQATFPISSLGDRKWWSAVVEERDAQSWTISVTTPADAVIGHYSLLLQVSGRKQLLLGQFTLLFNPWNREDAVFLKNEAQRMEYLLNQNGLIYLGTADCIQAESWDFGQFEGDVIDLSLRLLSKDKQVEKWSQPVHVARVLGALLHFLKEQRVLPTPQTQATQEGALLNKRRGSVPILRQWLTGRGRPVYDGQAWVLAAVACTVLRCLGIPARVVTTFASAQGTGGRLLIDEYYNEEGLQNGEGQRGRIWIFQTSTECWMTRPALPQGYDGWQILHPSAPNGGGVLGSCDLVPVRAVKEGTLGLTPAVSDLFAAINASCVVWKCCEDGTLELTDSNTKYVGNNISTKGVGSDRCEDITQNYKYPEGSLQEKEVLERVEKEKMEREKDNGIRPPSLETASPLYLLLKAPSSLPLRGDAQISVTLVNHSEQEKAVQLAIGVQAVHYNGVLAAKLWRKKLHLTLSANLEKIITIGLFFSNFERNPPENTFLRLTAMATHSESNLSCFAQEDIAICRPHLAIKMPEKAEQYQPLTASVSLQNSLDAPMEDCVISILGRGLIHRERSYRFRSVWPENTMCAKFQFTPTHVGLQRLTVEVDCNMFQNLTNYKSVTVVAPELSA
uniprot
proteins
disease_involvement
DISEASE: Spherocytosis 5 (SPH5) [MIM:612690]: Spherocytosis is a hematologic disorder leading to chronic hemolytic anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. Absence of band 4.2 associated with spur or target erythrocytes has also been reported. {ECO:0000269|PubMed:10406914, ECO:0000269|PubMed:1558976, ECO:0000269|PubMed:7772513, ECO:0000269|PubMed:7819064, ECO:0000269|PubMed:8547071, ECO:0000269|PubMed:8547605}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of the ankyrin-1 complex, a multiprotein complex involved in the stability and shape of the erythrocyte membrane. {ECO:0000269|PubMed:35835865}.
uniprot
proteins
mass_dalton
77009
uniprot
proteins
post_translational_modification
PTM: Both cAMP-dependent kinase (CAPK) and another kinase present in the red-blood cells seem to be able to phosphorylate EPB42. {ECO:0000269|PubMed:8499466}.
uniprot
proteins
protein_family
Transglutaminase family
uniprot
proteins
protein_family
Transglutaminase superfamily
uniprot
proteins
pubmed
10406914
uniprot
proteins
pubmed
1544941
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
1558976
uniprot
proteins
pubmed
16572171
uniprot
proteins
pubmed
1689063
uniprot
proteins
pubmed
2052563
uniprot
proteins
pubmed
2300550
uniprot
proteins
pubmed
35835865
uniprot
proteins
pubmed
7772513
uniprot
proteins
pubmed
7819064
uniprot
proteins
pubmed
8499466
uniprot
proteins
pubmed
8547071
uniprot
proteins
pubmed
8547605
uniprot
proteins
sequence_length
691
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor; Cytoplasmic side. Cytoplasm, cytoskeleton. Note=Cytoplasmic surface of erythrocyte membranes.
uniprot
proteins