PLAGL1
entrez
5325
canonical
uniprot
Q9UM63
canonical
ensembl
ENSG00000118495
resolver
ensp
ENSP00000346810
resolver
ensp
ENSP00000356543
resolver
ensp
ENSP00000356544
resolver
ensp
ENSP00000392418
resolver
ensp
ENSP00000395960
resolver
ensp
ENSP00000400060
resolver
ensp
ENSP00000400929
resolver
ensp
ENSP00000486355
resolver
ensp
ENSP00000486711
resolver
ensp
ENSP00000486763
resolver
ensp
ENSP00000496815
resolver
ensp
ENSP00000496979
resolver
ensp
ENSP00000501459
resolver
ensp
ENSP00000561717
resolver
ensp
ENSP00000642118
resolver
ensp
ENSP00000642120
resolver
ensp
ENSP00000649731
resolver
ensp
ENSP00000649733
resolver
ensp
ENSP00000649734
resolver
ensp
ENSP00000649736
resolver
ensp
ENSP00000649743
resolver
ensp
ENSP00000685955
resolver
enst
ENST00000626373
resolver
enst
ENST00000629195
resolver
genesymbol
PLAGL1
resolver
genesymbol_syn
LOT1
resolver
genesymbol_syn
ZAC
resolver
hgnc
HGNC:9046
resolver
uniprot
A0A0D9SFL4
resolver
uniprot
A0A0D9SFN6
resolver
uniprot
A1YLA1
resolver
uniprot
A1YLA2
resolver
uniprot
B2RBA4
resolver
uniprot
B2RCM8
resolver
uniprot
E1P595
resolver
uniprot
E1P597
resolver
uniprot
O76019
resolver
uniprot
Q7Z3V8
resolver
uniprot
Q92981
resolver
uniprot
Q96JR9
resolver
uniprot
Q9UIZ0
resolver
uniprot_entry
A0A0D9SFL4_HUMAN
resolver
uniprot_entry
A0A0D9SFN6_HUMAN
resolver
uniprot_entry
A1YLA1_HUMAN
resolver
uniprot_entry
A1YLA2_HUMAN
resolver
uniprot_entry
PLAL1_HUMAN
resolver
uniprot_sec
B2RBA4
resolver
uniprot_sec
B2RCM8
resolver
uniprot_sec
E1P595
resolver
uniprot_sec
E1P597
resolver
uniprot_sec
O76019
resolver
uniprot_sec
Q7Z3V8
resolver
uniprot_sec
Q92981
resolver
uniprot_sec
Q96JR9
resolver
uniprot_sec
Q9UIZ0
resolver
amino_acid_sequence
MATFPCQLCGKTFLTLEKFTIHNYSHSRERPYKCVQPDCGKAFVSRYKLMRHMATHSPQKSHQCAHCEKTFNRKDHLKNHLQTHDPNKMAFGCEECGKKYNTMLGYKRHLALHAASSGDLTCGVCALELGSTEVLLDHLKAHAEEKPPSGTKEKKHQCDHCERCFYTRKDVRRHLVVHTGCKDFLCQFCAQRFGRKDHLTRHTKKTHSQELMKESLQTGDLLSTFHTISPSFQLKAAALPPFPLGASAQNGLASSLPAEVHSLTLSPPEQAAQPMQPLPESLASLHPSVSPGSPPPPLPNHKYNTTSTSYSPLASLPLKADTKGFCNISLFEDLPLQEPQSPQKLNPGFDLAKGNAGKVNLPKELPADAVNLTIPASLDLSPLLGFWQLPPPATQNTFGNSTLALGPGESLPHRLSCLGQQQQEPPLAMGTVSLGQLPLPPIPHVFSAGTGSAILPHFHHAFR
uniprot
proteins
disease_involvement
DISEASE: Diabetes mellitus, transient neonatal, 1 (TNDM1) [MIM:601410]: An autosomal dominant form of diabetes mellitus defined by the onset of mild-to-severe hyperglycemia within the first month of life. In about half of the neonates, diabetes is transient and resolves at a median age of 3 months, whereas the rest have a permanent form of diabetes. {ECO:0000269|PubMed:11935319}. Note=The gene represented in this entry is involved in disease pathogenesis. Imprinted expression of PLAGL1 is relaxed in patients with transient neonatal diabetes (TND) (PubMed:11935319). Aberrant hypomethylation of the TND differentially methylated region within the PLAGL1 promoter as well as other imprinted loci at chromosome 6q24 is caused by ZFP57 mutations (PubMed:18622393). {ECO:0000269|PubMed:11935319, ECO:0000269|PubMed:18622393}.
uniprot
proteins
function
FUNCTION: Acts as a transcriptional activator (PubMed:9722527). Involved in the transcriptional regulation of type 1 receptor for pituitary adenylate cyclase-activating polypeptide. {ECO:0000269|PubMed:18299245, ECO:0000269|PubMed:9722527}.
uniprot
proteins
mass_dalton
50819
uniprot
proteins
protein_family
Krueppel C2H2-type zinc-finger protein family
uniprot
proteins
pubmed
11313869
uniprot
proteins
pubmed
11935319
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18299245
uniprot
proteins
pubmed
18622393
uniprot
proteins
pubmed
9150364
uniprot
proteins
pubmed
9671765
uniprot
proteins
pubmed
9722527
uniprot
proteins
sequence_length
463
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11313869, ECO:0000269|PubMed:18299245}.
uniprot
proteins