PRDM16
entrez
63976
canonical
uniprot
Q9HAZ2
canonical
ensembl
ENSG00000142611
resolver
ensp
ENSP00000270722
resolver
ensp
ENSP00000367643
resolver
genesymbol
PRDM16
resolver
genesymbol_syn
KIAA1675
resolver
genesymbol_syn
MEL1
resolver
genesymbol_syn
PFM13
resolver
hgnc
HGNC:14000
resolver
uniprot
A6NHQ8
resolver
uniprot
B1AJP7
resolver
uniprot
B1AJP8
resolver
uniprot
B1AJP9
resolver
uniprot
B1WB48
resolver
uniprot
Q8WYJ9
resolver
uniprot
Q9C0I8
resolver
uniprot_entry
PRD16_HUMAN
resolver
uniprot_sec
A6NHQ8
resolver
uniprot_sec
B1AJP7
resolver
uniprot_sec
B1AJP8
resolver
uniprot_sec
B1AJP9
resolver
uniprot_sec
B1WB48
resolver
uniprot_sec
Q8WYJ9
resolver
uniprot_sec
Q9C0I8
resolver
amino_acid_sequence
MRSKARARKLAKSDGDVVNNMYEPNRDLLASHSAEDEAEDSAMSPIPVGPPSPFPTSEDFTPKEGSPYEAPVYIPEDIPIPADFELRESSIPGAGLGVWAKRKMEAGERLGPCVVVPRAAAKETDFGWEQILTDVEVSPQEGCITKISEDLGSEKFCVDANQAGAGSWLKYIRVACSCDDQNLTMCQISEQIYYKVIKDIEPGEELLVHVKEGVYPLGTVPPGLDEEPTFRCDECDELFQSKLDLRRHKKYTCGSVGAALYEGLAEELKPEGLGGGSGQAHECKDCERMFPNKYSLEQHMVIHTEEREYKCDQCPKAFNWKSNLIRHQMSHDSGKRFECENCVKVFTDPSNLQRHIRSQHVGARAHACPDCGKTFATSSGLKQHKHIHSTVKPFICEVCHKSYTQFSNLCRHKRMHADCRTQIKCKDCGQMFSTTSSLNKHRRFCEGKNHYTPGGIFAPGLPLTPSPMMDKAKPSPSLNHASLGFNEYFPSRPHPGSLPFSTAPPTFPALTPGFPGIFPPSLYPRPPLLPPTSLLKSPLNHTQDAKLPSPLGNPALPLVSAVSNSSQGTTAAAGPEEKFESRLEDSCVEKLKTRSSDMSDGSDFEDVNTTTGTDLDTTTGTGSDLDSDVDSDPDKDKGKGKSAEGQPKFGGGLAPPGAPNSVAEVPVFYSQHSFFPPPDEQLLTATGAAGDSIKAIASIAEKYFGPGFMGMQEKKLGSLPYHSAFPFQFLPNFPHSLYPFTDRALAHNLLVKAEPKSPRDALKVGGPSAECPFDLTTKPKDVKPILPMPKGPSAPASGEEQPLDLSIGSRARASQNGGGREPRKNHVYGERKLGAGEGLPQVCPARMPQQPPLHYAKPSPFFMDPIYSRVEKRKVTDPVGALKEKYLRPSPLLFHPQMSAIETMTEKLESFAAMKADSGSSLQPLPHHPFNFRSPPPTLSDPILRKGKERYTCRYCGKIFPRSANLTRHLRTHTGEQPYRCKYCDRSFSISSNLQRHVRNIHNKEKPFKCHLCNRCFGQQTNLDRHLKKHEHENAPVSQHPGVLTNHLGTSASSPTSESDNHALLDEKEDSYFSEIRNFIANSEMNQASTRTEKRADMQIVDGSAQCPGLASEKQEDVEEEDDDDLEEDDEDSLAGKSQDDTVSPAPEPQAAYEDEEDEEPAASLAVGFDHTRRCAEDHEGGLLALEPMPTFGKGLDLRRAAEEAFEVKDVLNSTLDSEALKHTLCRQAKNQAYAMMLSLSEDTPLHTPSQGSLDAWLKVTGATSESGAFHPINHL
uniprot
proteins
disease_involvement
DISEASE: Left ventricular non-compaction 8 (LVNC8) [MIM:615373]: A form of left ventricular non-compaction, a cardiomyopathy due to myocardial morphogenesis arrest and characterized by a hypertrophic left ventricle, a severely thickened 2-layered myocardium, numerous prominent trabeculations, deep intertrabecular recesses, and poor systolic function. Clinical manifestations are variable. Some affected individuals experience no symptoms at all, others develop heart failure. In some cases, left ventricular non-compaction is associated with other congenital heart anomalies. LVNC8 is an autosomal dominant condition. {ECO:0000269|PubMed:23768516}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Cardiomyopathy, dilated, 1LL (CMD1LL) [MIM:615373]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269|PubMed:23768516}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=A chromosomal aberration involving PRDM16 is found in myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). Reciprocal translocation t(1;3)(p36;q21). Isoform 4 is specifically expressed in adult T-cell leukemia. {ECO:0000269|PubMed:11050005, ECO:0000269|PubMed:12557231}.
uniprot
proteins
ec_number
2.1.1.367
uniprot
proteins
function
FUNCTION: Transcription regulator that acts both as a histone methyltransferase or chromatin adapter, depending on the context (PubMed:12816872). In the cytoplasm, acts as a histone methyltransferase, which catalyzes monomethylation of 'Lys-9' of free histone H3 (H3K9me1) during translation (By similarity). Monomethylated histone H3 is then transported to the nucleus and incorporated into nucleosomes where SUV39H methyltransferases (SUV39H1 and SUV39H2) use it as a substrate to catalyze histone H3 'Lys-9' trimethylation (H3K9me3) (By similarity). Probably one of the primary histone methyltransferases along with MECOM/PRDM3 that direct cytoplasmic H3K9me1 methylation (By similarity). In the nucleus, acts as a key chromatin adapter that mediates differentiation of brown and beige adipocytes, which are specialized in dissipating chemical energy in the form of heat in response to cold or excess feeding (By similarity). Following recruitment to chromatin by PPARG nuclear receptor, promotes differentiation of myoblastic precursors into brown adipose cells (By similarity). Mechanistically, acts by mediating recruitment of (1) EHMT1 histone methyltransferase, thereby inhibiting the expression of white adipose-selective genes or (2) mediator complex, activating genes that are highly expressed in brown adipocytes, such as UCP1, PPARA, and PPARGC1A (By similarity). Also mediates differentiation of beige adipocytes from white adipose cells following recruitment by PPARG (By similarity). In addition to adipocyte differentiation, also involved in tolerance to gut microbiota: following recruitment to chromatin by RORgammaT (RORC) in a subset of antigen-presenting cells, promotes differentiation of peripherally-induced regulatory T-cells (pTreg), which suppress inflammatory responses to commensal microorganisms (By similarity). Also required in adult heart to preserve mitochondrial function and inhibit hypertrophy with advanced age (By similarity). Functions as a repressor of TGF-beta signaling (PubMed:19049980). {ECO:0000250|UniProtKB:A2A935, ECO:0000269|PubMed:12816872, ECO:0000269|PubMed:19049980}.; FUNCTION: [Isoform 4]: Binds DNA and functions as a transcriptional regulator (PubMed:12816872). Functions as a repressor of TGF-beta signaling (PubMed:14656887). May regulate granulocyte differentiation (PubMed:12816872). {ECO:0000269|PubMed:12816872, ECO:0000269|PubMed:14656887}.
uniprot
proteins
mass_dalton
140251
uniprot
proteins
post_translational_modification
PTM: Acetylation at Lys-915 py EP300/p300 abolishes its association with PPARG and ability to promote differentiation of brown adipocytes. Deacetylated by HDAC6. {ECO:0000250|UniProtKB:A2A935}.; PTM: Phosphorylated; phosphorylation promotes interaction with PIN1 and degradation. {ECO:0000250|UniProtKB:A2A935}.; PTM: Ubiquitinated by the CRL2(APPBP2) complex, leading to its degradation by the proteasome. Interaction with EHMT1 promotes PRDM16 stability by preventing interaction with APPBP2 and subsequent ubiquitination. {ECO:0000250|UniProtKB:A2A935}.; PTM: Sumoylated by CBX4, promoting its stabilization by preventing PRDM16 ubiquitination and degradation. {ECO:0000250|UniProtKB:A2A935}.
uniprot
proteins
protein_family
PRDM16 family
uniprot
proteins
pubmed
11050005
uniprot
proteins
pubmed
11214970
uniprot
proteins
pubmed
12168954
uniprot
proteins
pubmed
12557231
uniprot
proteins
pubmed
12816872
uniprot
proteins
pubmed
14656887
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
19049980
uniprot
proteins
pubmed
22939622
uniprot
proteins
pubmed
23768516
uniprot
proteins
pubmed
25578880
uniprot
proteins
pubmed
27535533
uniprot
proteins
pubmed
30462309
uniprot
proteins
sequence_length
1276
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:19049980}. Chromosome {ECO:0000250|UniProtKB:A2A935}. Cytoplasm {ECO:0000269|PubMed:22939622}.
uniprot
proteins