JAZF1
entrez
221895
canonical
uniprot
Q86VZ6
canonical
ensembl
ENSG00000153814
resolver
ensp
ENSP00000283928
resolver
genesymbol
JAZF1
resolver
genesymbol_syn
TIP27
resolver
genesymbol_syn
ZNF802
resolver
hgnc
HGNC:28917
resolver
uniprot
A4D195
resolver
uniprot
Q8N3L7
resolver
uniprot_entry
JAZF1_HUMAN
resolver
uniprot_sec
A4D195
resolver
uniprot_sec
Q8N3L7
resolver
amino_acid_sequence
MTGIAAASFFSNTCRFGGCGLHFPTLADLIEHIEDNHIDTDPRVLEKQELQQPTYVALSYINRFMTDAARREQESLKKKIQPKLSLTLSSSVSRGNVSTPPRHSSGSLTPPVTPPITPSSSFRSSTPTGSEYDEEEVDYEESDSDESWTTESAISSEAILSSMCMNGGEEKPFACPVPGCKKRYKNVNGIKYHAKNGHRTQIRVRKPFKCRCGKSYKTAQGLRHHTINFHPPVSAEIIRKMQQ
uniprot
proteins
disease_involvement
DISEASE: Note=A chromosomal aberration involving JAZF1 may be a cause of endometrial stromal tumors. Translocation t(7;17)(p15;q21) with SUZ12. The translocation generates the JAZF1-SUZ12 oncogene consisting of the N-terminus part of JAZF1 and the C-terminus part of SUZ12. It is frequently found in all cases of endometrial stromal tumors, except in endometrial stromal sarcomas, where it is rarer. Translocation t(6;7)(p21;p22) with PHF1. {ECO:0000269|PubMed:11371647, ECO:0000269|PubMed:16397222}.
uniprot
proteins
function
FUNCTION: Acts as a transcriptional corepressor of orphan nuclear receptor NR2C2 (PubMed:15302918). Inhibits expression of the gluconeogenesis enzyme PCK2 through inhibition of NR2C2 activity (By similarity). Also involved in transcriptional activation of NAMPT by promoting expression of PPARA and PPARD (By similarity). Plays a role in lipid metabolism by suppressing lipogenesis, increasing lipolysis and decreasing lipid accumulation in adipose tissue (By similarity). Plays a role in glucose homeostasis by improving glucose metabolism and insulin sensitivity (By similarity). {ECO:0000250|UniProtKB:Q80ZQ5, ECO:0000269|PubMed:15302918}.
uniprot
proteins
mass_dalton
27079
uniprot
proteins
mutagenesis
MUTAGEN 47; /note="K->P: Little effect on interaction with NR2C2."; /evidence="ECO:0000269|PubMed:15302918"; MUTAGEN 60; /note="Y->D: Abolishes interaction with NR2C2."; /evidence="ECO:0000269|PubMed:15302918"; MUTAGEN 69; /note="A->P: Little effect on interaction with NR2C2."; /evidence="ECO:0000269|PubMed:15302918"; MUTAGEN 76; /note="L->P: Reduces interaction with NR2C2."; /evidence="ECO:0000269|PubMed:15302918
uniprot
proteins
pubmed
11371647
uniprot
proteins
pubmed
12690205
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15302918
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16397222
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18772439
uniprot
proteins
pubmed
23186163
uniprot
proteins
sequence_length
243
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15302918}.
uniprot
proteins