IKZF5
entrez
64376
canonical
uniprot
Q9H5V7
canonical
ensembl
ENSG00000095574
resolver
ensp
ENSP00000357881
resolver
ensp
ENSP00000478056
resolver
ensp
ENSP00000574909
resolver
ensp
ENSP00000574910
resolver
ensp
ENSP00000574911
resolver
ensp
ENSP00000574913
resolver
ensp
ENSP00000574914
resolver
ensp
ENSP00000574915
resolver
ensp
ENSP00000574916
resolver
ensp
ENSP00000604499
resolver
ensp
ENSP00000604500
resolver
ensp
ENSP00000604501
resolver
ensp
ENSP00000604502
resolver
enst
ENST00000368886
resolver
enst
ENST00000617859
resolver
enst
ENST00000904850
resolver
enst
ENST00000904851
resolver
enst
ENST00000904852
resolver
enst
ENST00000904854
resolver
enst
ENST00000904855
resolver
enst
ENST00000904856
resolver
enst
ENST00000904857
resolver
enst
ENST00000934440
resolver
enst
ENST00000934441
resolver
enst
ENST00000934442
resolver
enst
ENST00000934443
resolver
genesymbol
IKZF5
resolver
genesymbol_syn
ZNFN1A5
resolver
hgnc
HGNC:14283
resolver
uniprot
B3KVH7
resolver
uniprot
D3DRE7
resolver
uniprot
Q9H2T0
resolver
uniprot_entry
IKZF5_HUMAN
resolver
uniprot_sec
B3KVH7
resolver
uniprot_sec
D3DRE7
resolver
uniprot_sec
Q9H2T0
resolver
amino_acid_sequence
MGEKKPEPLDFVKDFQEYLTQQTHHVNMISGSVSGDKEAEALQGAGTDGDQNGLDHPSVEVSLDENSGMLVDGFERTFDGKLKCRYCNYASKGTARLIEHIRIHTGEKPHRCHLCPFASAYERHLEAHMRSHTGEKPYKCELCSFRCSDRSNLSHHRRRKHKMVPIKGTRSSLSSKKMWGVLQKKTSNLGYSRRALINLSPPSMVVQKPDYLNDFTHEIPNIQTDSYESMAKTTPTGGLPRDPQELMVDNPLNQLSTLAGQLSSLPPENQNPASPDVVPCPDEKPFMIQQPSTQAVVSAVSASIPQSSSPTSPEPRPSHSQRNYSPVAGPSSEPSAHTSTPSIGNSQPSTPAPALPVQDPQLLHHCQHCDMYFADNILYTIHMGCHGYENPFQCNICGCKCKNKYDFACHFARGQHNQH
uniprot
proteins
disease_involvement
DISEASE: Thrombocytopenia 7 (THC7) [MIM:619130]: A form of thrombocytopenia, a hematologic disorder defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. THC7 is an autosomal dominant form with highly variable severity, ranging from absence of bleeding symptoms to epistaxis or more severe bleeding episodes. {ECO:0000269|PubMed:31217188, ECO:0000269|PubMed:32419556}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcriptional repressor that binds the core 5'GNNTGTNG-3' DNA consensus sequence (PubMed:10978333, PubMed:31217188). Involved in megakaryocyte differentiation. {ECO:0000269|PubMed:10978333, ECO:0000269|PubMed:31217188}.
uniprot
proteins
mass_dalton
46510
uniprot
proteins
mutagenesis
MUTAGEN 89; /note="Y->C: Decreased protein abundance. Decreased chromatin binding. Decreased localization to the nucleus. Tends to remain in the cytosol."; /evidence="ECO:0000269|PubMed:31217188"; MUTAGEN 96; /note="R->W: Decreased protein abundance. Decreased chromatin binding. Decreased localization to the nucleus. Tends to remain in the cytosol."; /evidence="ECO:0000269|PubMed:31217188"; MUTAGEN 98; /note="I->V: No effect on protein abundance. No effect on chromatin binding. No effect on localization to the nucleus."; /evidence="ECO:0000269|PubMed:31217188"; MUTAGEN 134; /note="G->E: Decreased protein abundance. Decreased chromatin binding. Decreased localization to the nucleus. Tends to remain in the cytosol."; /evidence="ECO:0000269|PubMed:31217188"; MUTAGEN 140; /note="C->R: Decreased protein abundance. Decreased chromatin binding. Decreased localization to the nucleus. Tends to remain in the cytosol."; /evidence="ECO:0000269|PubMed:31217188"; MUTAGEN 155; /note="H->Y: Decreased protein abundance. Decreased chromatin binding. Decreased localization to the nucleus. Tends to remain in the cytosol."; /evidence="ECO:0000269|PubMed:31217188"; MUTAGEN 200; /note="S->G: No effect on protein abundance. No effect on chromatin binding. No effect on localization to the nucleus."; /evidence="ECO:0000269|PubMed:31217188
uniprot
proteins
protein_family
Ikaros C2H2-type zinc-finger protein family
uniprot
proteins
pubmed
10978333
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
25218447
uniprot
proteins
pubmed
25755297
uniprot
proteins
pubmed
25772364
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
31217188
uniprot
proteins
pubmed
32419556
uniprot
proteins
sequence_length
419
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:31217188}.
uniprot
proteins