PTPN23
entrez
25930
canonical
uniprot
Q9H3S7
canonical
ensembl
ENSG00000076201
resolver
ensp
ENSP00000265562
resolver
ensp
ENSP00000559751
resolver
ensp
ENSP00000559754
resolver
enst
ENST00000265562
resolver
genesymbol
PTPN23
resolver
genesymbol_syn
KIAA1471
resolver
hgnc
HGNC:14406
resolver
uniprot
A8K0D7
resolver
uniprot
B4DST5
resolver
uniprot
Q7KZF8
resolver
uniprot
Q8N6Z5
resolver
uniprot
Q9BSR5
resolver
uniprot
Q9P257
resolver
uniprot
Q9UG03
resolver
uniprot
Q9UMZ4
resolver
uniprot_entry
B4DST5_HUMAN
resolver
uniprot_entry
PTN23_HUMAN
resolver
uniprot_sec
A8K0D7
resolver
uniprot_sec
Q7KZF8
resolver
uniprot_sec
Q8N6Z5
resolver
uniprot_sec
Q9BSR5
resolver
uniprot_sec
Q9P257
resolver
uniprot_sec
Q9UG03
resolver
uniprot_sec
Q9UMZ4
resolver
amino_acid_sequence
MEAVPRMPMIWLDLKEAGDFHFQPAVKKFVLKNYGENPEAYNEELKKLELLRQNAVRVPRDFEGCSVLRKYLGQLHYLQSRVPMGSGQEAAVPVTWTEIFSGKSVAHEDIKYEQACILYNLGALHSMLGAMDKRVSEEGMKVSCTHFQCAAGAFAYLREHFPQAYSVDMSRQILTLNVNLMLGQAQECLLEKSMLDNRKSFLVARISAQVVDYYKEACRALENPDTASLLGRIQKDWKKLVQMKIYYFAAVAHLHMGKQAEEQQKFGERVAYFQSALDKLNEAIKLAKGQPDTVQDALRFTMDVIGGKYNSAKKDNDFIYHEAVPALDTLQPVKGAPLVKPLPVNPTDPAVTGPDIFAKLVPMAAHEASSLYSEEKAKLLREMMAKIEDKNEVLDQFMDSMQLDPETVDNLDAYSHIPPQLMEKCAALSVRPDTVRNLVQSMQVLSGVFTDVEASLKDIRDLLEEDELLEQKFQEAVGQAGAISITSKAELAEVRREWAKYMEVHEKASFTNSELHRAMNLHVGNLRLLSGPLDQVRAALPTPALSPEDKAVLQNLKRILAKVQEMRDQRVSLEQQLRELIQKDDITASLVTTDHSEMKKLFEEQLKKYDQLKVYLEQNLAAQDRVLCALTEANVQYAAVRRVLSDLDQKWNSTLQTLVASYEAYEDLMKKSQEGRDFYADLESKVAALLERTQSTCQAREAARQQLLDRELKKKPPPRPTAPKPLLPRREESEAVEAGDPPEELRSLPPDMVAGPRLPDTFLGSATPLHFPPSPFPSSTGPGPHYLSGPLPPGTYSGPTQLIQPRAPGPHAMPVAPGPALYPAPAYTPELGLVPRSSPQHGVVSSPYVGVGPAPPVAGLPSAPPPQFSGPELAMAVRPATTTVDSIQAPIPSHTAPRPNPTPAPPPPCFPVPPPQPLPTPYTYPAGAKQPIPAQHHFSSGIPAGFPAPRIGPQPQPHPQPHPSQAFGPQPPQQPLPLQHPHLFPPQAPGLLPPQSPYPYAPQPGVLGQPPPPLHTQLYPGPAQDPLPAHSGALPFPSPGPPQPPHPPLAYGPAPSTRPMGPQAAPLTIRGPSSAGQSTPSPHLVPSPAPSPGPGPVPPRPPAAEPPPCLRRGAAAADLLSSSPESQHGGTQSPGGGQPLLQPTKVDAAEGRRPQALRLIERDPYEHPERLRQLQQELEAFRGQLGDVGALDTVWRELQDAQEHDARGRSIAIARCYSLKNRHQDVMPYDSNRVVLRSGKDDYINASCVEGLSPYCPPLVATQAPLPGTAADFWLMVHEQKVSVIVMLVSEAEMEKQKVARYFPTERGQPMVHGALSLALSSVRSTETHVERVLSLQFRDQSLKRSLVHLHFPTWPELGLPDSPSNLLRFIQEVHAHYLHQRPLHTPIIVHCSSGVGRTGAFALLYAAVQEVEAGNGIPELPQLVRRMRQQRKHMLQEKLHLRFCYEAVVRHVEQVLQRHGVPPPCKPLASASISQKNHLPQDSQDLVLGGDVPISSIQATIAKLSIRPPGGLESPVASLPGPAEPPGLPPASLPESTPIPSSSPPPLSSPLPEAPQPKEEPPVPEAPSSGPPSSSLELLASLTPEAFSLDSSLRGKQRMSKHNFLQAHNGQGLRATRPSDDPLSLLDPLWTLNKT
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity (NEDBASS) [MIM:618890]: An autosomal recessive disorder characterized by global developmental delay, brain abnormalities, mainly ventriculomegaly and/or brain atrophy, intellectual disability, absent speech, peripheral spasticity, and microcephaly. Additional variable features include early-onset seizures, optic atrophy, and dysmorphic facial features. Early death may occur. {ECO:0000269|PubMed:25558065, ECO:0000269|PubMed:27848944, ECO:0000269|PubMed:29090338, ECO:0000269|PubMed:29899372, ECO:0000269|PubMed:31395947}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.1.3.48
uniprot
proteins
function
FUNCTION: Plays a role in sorting of endocytic ubiquitinated cargos into multivesicular bodies (MVBs) via its interaction with the ESCRT-I complex (endosomal sorting complex required for transport I), and possibly also other ESCRT complexes (PubMed:18434552, PubMed:21757351). May act as a negative regulator of Ras-mediated mitogenic activity (PubMed:18434552). Plays a role in ciliogenesis (PubMed:20393563). {ECO:0000269|PubMed:18434552, ECO:0000269|PubMed:20393563, ECO:0000269|PubMed:21757351}.
uniprot
proteins
mass_dalton
178974
uniprot
proteins
mutagenesis
MUTAGEN 202; /note="L->D: Nearly abolishes interaction with CHMP4B. Abolishes interaction with CHMP4B; when associated with D-206."; /evidence="ECO:0000269|PubMed:18434552"; MUTAGEN 206; /note="I->D: Abolishes interaction with CHMP4B; when associated with D-202."; /evidence="ECO:0000269|PubMed:18434552"; MUTAGEN 678; /note="F->S,D: Abolishes interaction with UBAP1."; /evidence="ECO:0000269|PubMed:21757351, ECO:0000269|PubMed:27839950
uniprot
proteins
protein_family
Non-receptor class subfamily
uniprot
proteins
protein_family
Protein-tyrosine phosphatase family
uniprot
proteins
pubmed
10819331
uniprot
proteins
pubmed
11095967
uniprot
proteins
pubmed
12168954
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18434552
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20393563
uniprot
proteins
pubmed
21179510
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
21757351
uniprot
proteins
pubmed
21889351
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24129315
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25558065
uniprot
proteins
pubmed
27839950
uniprot
proteins
pubmed
27848944
uniprot
proteins
pubmed
29090338
uniprot
proteins
pubmed
29899372
uniprot
proteins
pubmed
31395947
uniprot
proteins
sequence_length
1636
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Cytoplasmic vesicle. Endosome. Cytoplasm, cytoskeleton, cilium basal body. Early endosome.
uniprot
proteins