• Gene id: 63976

Gene Summary

• Gene Symbol: PRDM16   Gene   UCSC   Ensembl
• Aliases: CMD1LL, KMT8F, LVNC8, MEL1, PFM13
• Gene name: PR/SET domain 16
• Alternate names: histone-lysine N-methyltransferase PRDM16, MDS1/EVI1-like gene 1, PR domain 16, PR domain containing 16, PR domain zinc finger protein 16, transcription factor MEL1,
• Gene location: 1p36.32 (3069202: 3438620)     Exons: 17     NC_000001.11
• Gene summary(Entrez): The reciprocal translocation t(1;3)(p36;q21) occurs in a subset of myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). This gene is located near the 1p36.3 breakpoint and has been shown to be specifically expressed in the t(1:3)(p36,q21)-posi
• OMIM: 300325

Protein Summary

• Protein general information: Q9HAZ2  
  • Name: Histone lysine N methyltransferase PRDM16 (EC 2.1.1. ) (PR domain zinc finger protein 16) (PR domain containing protein 16) (Transcription factor MEL1) (MDS1/EVI1 like gene 1)
  • Length: 1276  
  • Mass: 140251
  • Tissue specificity: Expressed in uterus and kidney. Expressed in both cardiomyocytes and interstitial cells. {ECO
• Sequence:

  MRSKARARKLAKSDGDVVNNMYEPNRDLLASHSAEDEAEDSAMSPIPVGPPSPFPTSEDFTPKEGSPYEAPVYIP
  EDIPIPADFELRESSIPGAGLGVWAKRKMEAGERLGPCVVVPRAAAKETDFGWEQILTDVEVSPQEGCITKISED
  LGSEKFCVDANQAGAGSWLKYIRVACSCDDQNLTMCQISEQIYYKVIKDIEPGEELLVHVKEGVYPLGTVPPGLD
  EEPTFRCDECDELFQSKLDLRRHKKYTCGSVGAALYEGLAEELKPEGLGGGSGQAHECKDCERMFPNKYSLEQHM
  VIHTEEREYKCDQCPKAFNWKSNLIRHQMSHDSGKRFECENCVKVFTDPSNLQRHIRSQHVGARAHACPDCGKTF
  ATSSGLKQHKHIHSTVKPFICEVCHKSYTQFSNLCRHKRMHADCRTQIKCKDCGQMFSTTSSLNKHRRFCEGKNH
  YTPGGIFAPGLPLTPSPMMDKAKPSPSLNHASLGFNEYFPSRPHPGSLPFSTAPPTFPALTPGFPGIFPPSLYPR
  PPLLPPTSLLKSPLNHTQDAKLPSPLGNPALPLVSAVSNSSQGTTAAAGPEEKFESRLEDSCVEKLKTRSSDMSD
  GSDFEDVNTTTGTDLDTTTGTGSDLDSDVDSDPDKDKGKGKSAEGQPKFGGGLAPPGAPNSVAEVPVFYSQHSFF
  PPPDEQLLTATGAAGDSIKAIASIAEKYFGPGFMGMQEKKLGSLPYHSAFPFQFLPNFPHSLYPFTDRALAHNLL
  VKAEPKSPRDALKVGGPSAECPFDLTTKPKDVKPILPMPKGPSAPASGEEQPLDLSIGSRARASQNGGGREPRKN
  HVYGERKLGAGEGLPQVCPARMPQQPPLHYAKPSPFFMDPIYSRVEKRKVTDPVGALKEKYLRPSPLLFHPQMSA
  IETMTEKLESFAAMKADSGSSLQPLPHHPFNFRSPPPTLSDPILRKGKERYTCRYCGKIFPRSANLTRHLRTHTG
  EQPYRCKYCDRSFSISSNLQRHVRNIHNKEKPFKCHLCNRCFGQQTNLDRHLKKHEHENAPVSQHPGVLTNHLGT
  SASSPTSESDNHALLDEKEDSYFSEIRNFIANSEMNQASTRTEKRADMQIVDGSAQCPGLASEKQEDVEEEDDDD
  LEEDDEDSLAGKSQDDTVSPAPEPQAAYEDEEDEEPAASLAVGFDHTRRCAEDHEGGLLALEPMPTFGKGLDLRR
  AAEEAFEVKDVLNSTLDSEALKHTLCRQAKNQAYAMMLSLSEDTPLHTPSQGSLDAWLKVTGATSESGAFHPINH
  L

• Structural information:
  • Protein Domains: (82..21-)
    (/note="SET-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00190"-)
  • Interpro: IPR001214  IPR036236  IPR013087  
  • Prosite: PS50280 PS00028 PS50157
  • PDB: 2N1I 6BW4
  • PDBsum: 2N1I 6BW4
  • STRING: ENSP00000270722
• Other Databases: GeneCards:  PRDM16  Malacards:  PRDM16

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0010468	regulation of gene expression	IBA	biological process
GO:0006355	regulation of transcription, DNA-templated	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0003712	transcription coregulator activity	IBA	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway	IDA	NOT|biological process
GO:0005634	nucleus	IDA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0033613	activating transcription factor binding	IPI	molecular function
GO:0050873	brown fat cell differentiation	ISS	biological process
GO:0045893	positive regulation of transcription, DNA-templated	ISS	biological process
GO:0045892	negative regulation of transcription, DNA-templated	ISS	biological process
GO:0043457	regulation of cellular respiration	ISS	biological process
GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway	IMP	biological process
GO:0017053	transcription repressor complex	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003713	transcription coactivator activity	ISS	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0032259	methylation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0090336	positive regulation of brown fat cell differentiation	IEA	biological process
GO:0050873	brown fat cell differentiation	IEA	biological process
GO:0050872	white fat cell differentiation	IEA	biological process
GO:0046974	histone methyltransferase activity (H3-K9 specific)	IEA	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0022008	neurogenesis	IEA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0120162	positive regulation of cold-induced thermogenesis	IEA	biological process
GO:0070828	heterochromatin organization	IEA	biological process
GO:0060021	roof of mouth development	IEA	biological process
GO:0046332	SMAD binding	IEA	molecular function
GO:0043586	tongue development	IEA	biological process
GO:0043457	regulation of cellular respiration	IEA	biological process
GO:0035019	somatic stem cell population maintenance	IEA	biological process
GO:0019827	stem cell population maintenance	IEA	biological process
GO:0017053	transcription repressor complex	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003713	transcription coactivator activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0016235	aggresome	IDA	cellular component
GO:0120162	positive regulation of cold-induced thermogenesis	ISS	biological process
GO:0120162	positive regulation of cold-induced thermogenesis	ISS	biological process
GO:0051567	histone H3-K9 methylation	IEA	biological process
GO:0051567	histone H3-K9 methylation	IEA	biological process
GO:0046974	histone methyltransferase activity (H3-K9 specific)	ISS	molecular function
GO:0070828	heterochromatin organization	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04714	Thermogenesis

Diseases

Associated diseases	References
Left ventricular noncompaction	KEGG:H01216
Left ventricular noncompaction	KEGG:H01216
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray