• Gene id: 55209

Gene Summary

• Gene Symbol: SETD5   Gene   UCSC   Ensembl
• Gene name: SET domain containing 5
• Alternate names: histone-lysine N-methyltransferase SETD5, SET domain-containing protein 5,
• Gene location: 3p25.3 (9397614: 9478153)     Exons: 12     NC_000003.12
• Gene summary(Entrez): This function of this gene has yet to be determined but based on sequence similarity to other SET domain proteins it may function as a histone methyltransferase. Mutations in this gene have been associated with an autosomal dominant form of intellectual d
• OMIM: 615743

Protein Summary

• Protein general information: Q9C0A6  
  • Name: Histone lysine N methyltransferase SETD5 (EC 2.1.1. ) (EC 2.1.1.359) (SET domain containing protein 5)
  • Length: 1442  
  • Mass: 157515
• Sequence:

  MSIAIPLGVTTSDTSYSDMAAGSDPESVEASPAVNEKSVYSTHNYGTTQRHGCRGLPYATIIPRSDLNGLPSPVE
  ERCGDSPNSEGETVPTWCPCGLSQDGFLLNCDKCRGMSRGKVIRLHRRKQDNISGGDSSATESWDEELSPSTVLY
  TATQHTPTSITLTVRRTKPKKRKKSPEKGRAAPKTKKIKNSPSEAQNLDENTTEGWENRIRLWTDQYEEAFTNQY
  SADVQNALEQHLHSSKEFVGKPTILDTINKTELACNNTVIGSQMQLQLGRVTRVQKHRKILRAARDLALDTLIIE
  YRGKVMLRQQFEVNGHFFKKPYPFVLFYSKFNGVEMCVDARTFGNDARFIRRSCTPNAEVRHMIADGMIHLCIYA
  VSAITKDAEVTIAFDYEYSNCNYKVDCACHKGNRNCPIQKRNPNATELPLLPPPPSLPTIGAETRRRKARRKELE
  MEQQNEASEENNDQQSQEVPEKVTVSSDHEEVDNPEEKPEEEKEEVIDDQENLAHSRRTREDRKVEAIMHAFENL
  EKRKKRRDQPLEQSNSDVEITTTTSETPVGEETKTEAPESEVSNSVSNVTIPSTPQSVGVNTRRSSQAGDIAAEK
  LVPKPPPAKPSRPRPKSRISRYRTSSAQRLKRQKQANAQQAELSQAALEEGGSNSLVTPTEAGSLDSSGENRPLT
  GSDPTVVSITGSHVNRAASKYPKTKKYLVTEWLNDKAEKQECPVECPLRITTDPTVLATTLNMLPGLIHSPLICT
  TPKHYIRFGSPFIPERRRRPLLPDGTFSSCKKRWIKQALEEGMTQTSSVPQETRTQHLYQSNENSSSSSICKDNA
  DLLSPLKKWKSRYLMEQNVTKLLRPLSPVTPPPPNSGSKSPQLATPGSSHPGEEECRNGYSLMFSPVTSLTTASR
  CNTPLQFELCHRKDLDLAKVGYLDSNTNSCADRPSLLNSGHSDLAPHPSLGPTSETGFPSRSGDGHQTLVRNSDQ
  AFRTEFNLMYAYSPLNAMPRADGLYRGSPLVGDRKPLHLDGGYCSPAEGFSSRYEHGLMKDLSRGSLSPGGERAC
  EGVPSAPQNPPQRKKVSLLEYRKRKQEAKENSAGGGGDSAQSKSKSAGAGQGSSNSVSDTGAHGVQGSSARTPSS
  PHKKFSPSHSSMSHLEAVSPSDSRGTSSSHCRPQENISSRWMVPTSVERLREGGSIPKVLRSSVRVAQKGEPSPT
  WESNITEKDSDPADGEGPETLSSALSKGATVYSPSRYSYQLLQCDSPRTESQSLLQQSSSPFRGHPTQSPGYSYR
  TTALRPGNPPSHGSSESSLSSTSYSSPAHPVSTDSLAPFTGTPGYFSSQPHSGNSTGSNLPRRSCPSSAASPTLQ
  GPSDSPTSDSVSQSSTGTLSSTSFPQNSRSSLPSDLRTISLPSAGQSAVYQASRVSAVSNSQHYPHRGSGGVHQY
  RLQPLQGSGVKTQTGLS

• Structural information:
  • Protein Domains: (269..39-)
    (/note="SET-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00190"-)
  • Interpro: IPR001214  
  • Prosite: PS50280
  • STRING: ENSP00000385852
• Other Databases: GeneCards:  SETD5  Malacards:  SETD5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0035065	regulation of histone acetylation	ISS	biological process
GO:0016569	covalent chromatin modification	ISS	biological process
GO:0046975	histone methyltransferase activity (H3-K36 specific)	ISS	molecular function
GO:0051963	regulation of synapse assembly	ISS	biological process
GO:0032784	regulation of DNA-templated transcription, elongation	ISS	biological process
GO:0016593	Cdc73/Paf1 complex	ISS	colocalizes with
GO:0005634	nucleus	ISS	cellular component
GO:1902275	regulation of chromatin organization	ISS	biological process
GO:0005719	nuclear euchromatin	ISS	cellular component
GO:0097198	histone H3-K36 trimethylation	ISS	biological process
GO:0050890	cognition	ISS	biological process
GO:0006325	chromatin organization	IEA	biological process
GO:0032259	methylation	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0005694	chromosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016569	covalent chromatin modification	IEA	biological process
GO:0032784	regulation of DNA-templated transcription, elongation	IEA	biological process
GO:0035065	regulation of histone acetylation	IEA	biological process
GO:0046974	histone methyltransferase activity (H3-K9 specific)	IEA	molecular function
GO:0046975	histone methyltransferase activity (H3-K36 specific)	IEA	molecular function
GO:0051963	regulation of synapse assembly	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005719	nuclear euchromatin	IEA	cellular component
GO:0016593	Cdc73/Paf1 complex	IEA	cellular component
GO:0050890	cognition	IEA	biological process
GO:0097198	histone H3-K36 trimethylation	IEA	biological process
GO:1902275	regulation of chromatin organization	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
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

Diseases

Associated diseases	References
Autosomal dominant mental retardation	KEGG:H00773
Autosomal dominant mental retardation	KEGG:H00773
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)