NUDT2
entrez
318
canonical
uniprot
P50583
canonical
ensembl
ENSG00000164978
resolver
ensp
ENSP00000344187
resolver
ensp
ENSP00000368452
resolver
ensp
ENSP00000368455
resolver
ensp
ENSP00000482384
resolver
ensp
ENSP00000562497
resolver
ensp
ENSP00000562498
resolver
ensp
ENSP00000562499
resolver
ensp
ENSP00000562500
resolver
ensp
ENSP00000562501
resolver
ensp
ENSP00000562502
resolver
ensp
ENSP00000562503
resolver
ensp
ENSP00000562504
resolver
ensp
ENSP00000562505
resolver
ensp
ENSP00000599685
resolver
ensp
ENSP00000599686
resolver
ensp
ENSP00000599687
resolver
ensp
ENSP00000639665
resolver
ensp
ENSP00000639666
resolver
enst
ENST00000346365
resolver
enst
ENST00000379155
resolver
enst
ENST00000379158
resolver
enst
ENST00000618590
resolver
enst
ENST00000892438
resolver
enst
ENST00000892439
resolver
enst
ENST00000892440
resolver
enst
ENST00000892441
resolver
enst
ENST00000892442
resolver
enst
ENST00000892443
resolver
enst
ENST00000892444
resolver
enst
ENST00000892445
resolver
enst
ENST00000892446
resolver
enst
ENST00000929626
resolver
enst
ENST00000929627
resolver
enst
ENST00000929628
resolver
enst
ENST00000969606
resolver
enst
ENST00000969607
resolver
genesymbol
NUDT2
resolver
genesymbol_syn
APAH1
resolver
hgnc
HGNC:8049
resolver
uniprot
D3DRM0
resolver
uniprot
Q5T589
resolver
uniprot_entry
AP4A_HUMAN
resolver
uniprot_sec
D3DRM0
resolver
uniprot_sec
Q5T589
resolver
amino_acid_sequence
MALRACGLIIFRRCLIPKVDNNAIEFLLLQASDGIHHWTPPKGHVEPGEDDLETALRETQEEAGIEAGQLTIIEGFKRELNYVARNKPKTVIYWLAEVKDYDVEIRLSHEHQAYRWLGLEEACQLAQFKEMKAALQEGHQFLCSIEA
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder with or without peripheral neuropathy (IDDPN) [MIM:619844]: An autosomal recessive disorder characterized by global developmental delay appearing in infancy or early childhood, intellectual disability, and progressive sensorimotor neuropathy with associated distal weakness. Affected individuals have hypotonia and delayed walking with an unsteady gait and frequent falls. Additional features may include dysarthria and subtle facial dysmorpism. {ECO:0000269|PubMed:27431290, ECO:0000269|PubMed:30059600, ECO:0000269|PubMed:33058507}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.6.1.17
uniprot
proteins
function
FUNCTION: Catalyzes the asymmetric hydrolysis of diadenosine 5',5'''-P1,P4-tetraphosphate (Ap4A) to yield AMP and ATP (By similarity). Exhibits decapping activity towards FAD-capped RNAs and dpCoA-capped RNAs in vitro (By similarity). {ECO:0000250|UniProtKB:P50584, ECO:0000250|UniProtKB:P56380}.
uniprot
proteins
mass_dalton
16829
uniprot
proteins
protein_family
Nudix hydrolase family
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15596429
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
27431290
uniprot
proteins
pubmed
30059600
uniprot
proteins
pubmed
33058507
uniprot
proteins
pubmed
7487923
uniprot
proteins
sequence_length
147
uniprot
proteins