ADNP
entrez
23394
canonical
uniprot
Q9H2P0
canonical
ensembl
ENSG00000101126
resolver
ensp
ENSP00000342905
resolver
ensp
ENSP00000360662
resolver
ensp
ENSP00000379346
resolver
ensp
ENSP00000379349
resolver
ensp
ENSP00000483881
resolver
ensp
ENSP00000495540
resolver
ensp
ENSP00000501294
resolver
ensp
ENSP00000578591
resolver
ensp
ENSP00000578592
resolver
ensp
ENSP00000603238
resolver
ensp
ENSP00000603239
resolver
ensp
ENSP00000603240
resolver
ensp
ENSP00000603241
resolver
ensp
ENSP00000641664
resolver
ensp
ENSP00000641665
resolver
enst
ENST00000349014
resolver
enst
ENST00000371602
resolver
enst
ENST00000396029
resolver
enst
ENST00000396032
resolver
enst
ENST00000621696
resolver
enst
ENST00000645081
resolver
enst
ENST00000673732
resolver
enst
ENST00000908532
resolver
enst
ENST00000908533
resolver
enst
ENST00000933179
resolver
enst
ENST00000933180
resolver
enst
ENST00000933181
resolver
enst
ENST00000933182
resolver
enst
ENST00000971605
resolver
enst
ENST00000971606
resolver
genesymbol
ADNP
resolver
genesymbol_syn
ADNP1
resolver
genesymbol_syn
KIAA0784
resolver
hgnc
HGNC:15766
resolver
uniprot
A0A2R8Y6X0
resolver
uniprot
A0A669KBJ7
resolver
uniprot
E1P5Y2
resolver
uniprot
O94881
resolver
uniprot
Q5BKU2
resolver
uniprot
Q6DHZ8
resolver
uniprot
Q9UG34
resolver
uniprot_entry
A0A2R8Y6X0_HUMAN
resolver
uniprot_entry
A0A669KBJ7_HUMAN
resolver
uniprot_entry
ADNP_HUMAN
resolver
uniprot_entry
Q6DHZ8_HUMAN
resolver
uniprot_sec
E1P5Y2
resolver
uniprot_sec
O94881
resolver
uniprot_sec
Q5BKU2
resolver
uniprot_sec
Q9UG34
resolver
amino_acid_sequence
MFQLPVNNLGSLRKARKTVKKILSDIGLEYCKEHIEDFKQFEPNDFYLKNTTWEDVGLWDPSLTKNQDYRTKPFCCSACPFSSKFFSAYKSHFRNVHSEDFENRILLNCPYCTFNADKKTLETHIKIFHAPNASAPSSSLSTFKDKNKNDGLKPKQADSVEQAVYYCKKCTYRDPLYEIVRKHIYREHFQHVAAPYIAKAGEKSLNGAVPLGSNAREESSIHCKRCLFMPKSYEALVQHVIEDHERIGYQVTAMIGHTNVVVPRSKPLMLIAPKPQDKKSMGLPPRIGSLASGNVRSLPSQQMVNRLSIPKPNLNSTGVNMMSSVHLQQNNYGVKSVGQGYSVGQSMRLGLGGNAPVSIPQQSQSVKQLLPSGNGRSYGLGSEQRSQAPARYSLQSANASSLSSGQLKSPSLSQSQASRVLGQSSSKPAAAATGPPPGNTSSTQKWKICTICNELFPENVYSVHFEKEHKAEKVPAVANYIMKIHNFTSKCLYCNRYLPTDTLLNHMLIHGLSCPYCRSTFNDVEKMAAHMRMVHIDEEMGPKTDSTLSFDLTLQQGSHTNIHLLVTTYNLRDAPAESVAYHAQNNPPVPPKPQPKVQEKADIPVKSSPQAAVPYKKDVGKTLCPLCFSILKGPISDALAHHLRERHQVIQTVHPVEKKLTYKCIHCLGVYTSNMTASTITLHLVHCRGVGKTQNGQDKTNAPSRLNQSPSLAPVKRTYEQMEFPLLKKRKLDDDSDSPSFFEEKPEEPVVLALDPKGHEDDSYEARKSFLTKYFNKQPYPTRREIEKLAASLWLWKSDIASHFSNKRKKCVRDCEKYKPGVLLGFNMKELNKVKHEMDFDAEWLFENHDEKDSRVNASKTADKKLNLGKEDDSSSDSFENLEEESNESGSPFDPVFEVEPKISNDNPEEHVLKVIPEDASESEEKLDQKEDGSKYETIHLTEEPTKLMHNASDSEVDQDDVVEWKDGASPSESGPGSQQVSDFEDNTCEMKPGTWSDESSQSEDARSSKPAAKKKATMQGDREQLKWKNSSYGKVEGFWSKDQSQWKNASENDERLSNPQIEWQNSTIDSEDGEQFDNMTDGVAEPMHGSLAGVKLSSQQA
uniprot
proteins
disease_involvement
DISEASE: Helsmoortel-van der Aa syndrome (HVDAS) [MIM:615873]: A disorder characterized by intellectual disability, autism spectrum disorder, and dysmorphic facial features including prominent forehead, high hairline, downslanting palpebral fissures, notched eyelids, broad nasal bridge, thin upper lip, and smooth philtrum. {ECO:0000269|PubMed:24531329}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: May be involved in transcriptional regulation. May mediate some of the neuroprotective peptide VIP-associated effects involving normal growth and cancer proliferation. Positively modulates WNT-beta-catenin/CTNN1B signaling, acting by regulating phosphorylation of, and thereby stabilizing, CTNNB1. May be required for neural induction and neuronal differentiation. May be involved in erythroid differentiation (By similarity). {ECO:0000250|UniProtKB:Q9Z103}.
uniprot
proteins
mass_dalton
123563
uniprot
proteins
pubmed
11013255
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17525332
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19091000
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24531329
uniprot
proteins
pubmed
25218447
uniprot
proteins
pubmed
25755297
uniprot
proteins
pubmed
25772364
uniprot
proteins
pubmed
26637798
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
9872452
uniprot
proteins
sequence_length
1102
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}. Chromosome {ECO:0000250|UniProtKB:Q9Z103}.
uniprot
proteins