GLIS3
entrez
169792
canonical
uniprot
Q8NEA6
canonical
ensembl
ENSG00000107249
resolver
ensp
ENSP00000325494
resolver
ensp
ENSP00000371398
resolver
ensp
ENSP00000417794
resolver
ensp
ENSP00000417883
resolver
ensp
ENSP00000507306
resolver
enst
ENST00000477901
resolver
enst
ENST00000481827
resolver
genesymbol
GLIS3
resolver
genesymbol_syn
ZNF515
resolver
hgnc
HGNC:28510
resolver
uniprot
A0A0S2Z689
resolver
uniprot
B1AL19
resolver
uniprot
F6UAX3
resolver
uniprot
Q1PHJ8
resolver
uniprot
Q1PHK5
resolver
uniprot_entry
A0A0S2Z689_HUMAN
resolver
uniprot_entry
F6UAX3_HUMAN
resolver
uniprot_entry
GLIS3_HUMAN
resolver
uniprot_entry
Q1PHJ8_HUMAN
resolver
uniprot_sec
B1AL19
resolver
uniprot_sec
Q1PHK5
resolver
amino_acid_sequence
MMVQRLGLISPPASQVSTACNQISPSLQRAMNAANLNIPPSDTRSLISRESLASTTLSLTESQSASSMKQEWSQGYRALPSLSNHGSQNGLDLGDLLSLPPGTSMSSNSVSNSLPSYLFGTESSHSPYPSPRHSSTRSHSARSKKRALSLSPLSDGIGIDFNTIIRTSPTSLVAYINGSRASPANLSPQPEVYGHFLGVRGSCIPQPRPVPGSQKGVLVAPGGLALPAYGEDGALEHERMQQLEHGGLQPGLVNHMVVQHGLPGPDSQSAGLFKTERLEEFPGSTVDLPPAPPLPPLPPPPGPPPPYHAHAHLHHPELGPHAQQLALPQATLDDDGEMDGIGGKHCCRWIDCSALYDQQEELVRHIEKVHIDQRKGEDFTCFWAGCPRRYKPFNARYKLLIHMRVHSGEKPNKCTFEGCEKAFSRLENLKIHLRSHTGEKPYLCQHPGCQKAFSNSSDRAKHQRTHLDTKPYACQIPGCTKRYTDPSSLRKHVKAHSSKEQQARKKLRSSTELHPDLLTDCLTVQSLQPATSPRDAAAEGTVGRSPGPGPDLYSAPIFSSNYSSRSGTAAGAVPPPHPVSHPSPGHNVQGSPHNPSSQLPPLTAVDAGAERFAPSAPSPHHISPRRVPAPSSILQRTQPPYTQQPSGSHLKSYQPETNSSFQPNGIHVHGFYGQLQKFCPPHYPDSQRIVPPVSSCSVVPSFEDCLVPTSMGQASFDVFHRAFSTHSGITVYDLPSSSSSLFGESLRSGAEDATFLQISTVDRCPSQLSSVYTEG
uniprot
proteins
disease_involvement
DISEASE: Diabetes mellitus, neonatal, with congenital hypothyroidism (NDH) [MIM:610199]: A syndrome of neonatal diabetes syndrome associated with congenital hypothyroidism, congenital glaucoma, hepatic fibrosis and polycystic kidneys. {ECO:0000269|PubMed:16715098, ECO:0000269|PubMed:21139041}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Acts both as a repressor and an activator of transcription. Binds to the consensus sequence 5'-GACCACCCAC-3' (By similarity). {ECO:0000250}.
uniprot
proteins
mass_dalton
83636
uniprot
proteins
protein_family
GLI C2H2-type zinc-finger protein family
uniprot
proteins
pubmed
14500813
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16715098
uniprot
proteins
pubmed
21139041
uniprot
proteins
sequence_length
775
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
uniprot
proteins