AAGAB
entrez
79719
canonical
uniprot
Q6PD74
canonical
ensembl
ENSG00000103591
resolver
ensp
ENSP00000261880
resolver
ensp
ENSP00000440735
resolver
ensp
ENSP00000453263
resolver
ensp
ENSP00000726306
resolver
ensp
ENSP00000726308
resolver
genesymbol
AAGAB
resolver
hgnc
HGNC:25662
resolver
uniprot
B4DG44
resolver
uniprot
Q6FI86
resolver
uniprot
Q7Z5X9
resolver
uniprot
Q9H0P1
resolver
uniprot
Q9HAK0
resolver
uniprot_entry
AAGAB_HUMAN
resolver
uniprot_sec
B4DG44
resolver
uniprot_sec
Q6FI86
resolver
uniprot_sec
Q7Z5X9
resolver
uniprot_sec
Q9H0P1
resolver
uniprot_sec
Q9HAK0
resolver
amino_acid_sequence
MAAGVPCALVTSCSSVFSGDQLVQHILGTEDLIVEVTSNDAVRFYPWTIDNKYYSADINLCVVPNKFLVTAEIAESVQAFVVYFDSTQKSGLDSVSSWLPLAKAWLPEVMILVCDRVSEDGINRQKAQEWCIKHGFELVELSPEELPEEDDDFPESTGVKRIVQALNANVWSNVVMKNDRNQGFSLLNSLTGTNHSIGSADPCHPEQPHLPAADSTESLSDHRGGASNTTDAQVDSIVDPMLDLDIQELASLTTGGGDVENFERLFSKLKEMKDKAATLPHEQRKVHAEKVAKAFWMAIGGDRDEIEGLSSDEEH
uniprot
proteins
disease_involvement
DISEASE: Keratoderma, palmoplantar, punctate 1A (PPKP1A) [MIM:148600]: An autosomal dominant dermatological disorder characterized by multiple hyperkeratotic, centrally indented, papules that develop in early adolescence, or later, and are irregularly distributed on the palms and soles (other palmoplantar keratoses have mostly diffuse hyperkeratinization). In mechanically irritated areas, confluent plaques can be found. Interfamilial and intrafamilial severity shows broad variation. In some cases, PPKP1 is associated with the development of early- and late-onset malignancies, including squamous cell carcinoma. {ECO:0000269|PubMed:23000146, ECO:0000269|PubMed:23064416}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: May be involved in endocytic recycling of growth factor receptors such as EGFR. {ECO:0000269|PubMed:23064416}.
uniprot
proteins
mass_dalton
34594
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16572171
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23000146
uniprot
proteins
pubmed
23064416
uniprot
proteins
sequence_length
315
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:23000146, ECO:0000269|PubMed:23064416}.
uniprot
proteins