• Gene id: 84193

Gene Summary

• Gene Symbol: SETD3   Gene   UCSC   Ensembl
• Aliases: C14orf154, hSETD3
• Gene name: SET domain containing 3, actin histidine methyltransferase
• Alternate names: actin-histidine N-methyltransferase, SET domain containing 3, SET domain-containing protein 3, histone-lysine N-methyltransferase setd3,
• Gene location: 14q32.2 (99486457: 99397745)     Exons: 19     NC_000014.9
• OMIM: 615671

Protein Summary

• Protein general information: Q86TU7  
  • Name: Actin histidine N methyltransferase (EC 2.1.1.85) (SET domain containing protein 3) (hSETD3)
  • Length: 594  
  • Mass: 67257
• Sequence:

  MGKKSRVKTQKSGTGATATVSPKEILNLTSELLQKCSSPAPGPGKEWEEYVQIRTLVEKIRKKQKGLSVTFDGKR
  EDYFPDLMKWASENGASVEGFEMVNFKEEGFGLRATRDIKAEELFLWVPRKLLMTVESAKNSVLGPLYSQDRILQ
  AMGNIALAFHLLCERASPNSFWQPYIQTLPSEYDTPLYFEEDEVRYLQSTQAIHDVFSQYKNTARQYAYFYKVIQ
  THPHANKLPLKDSFTYEDYRWAVSSVMTRQNQIPTEDGSRVTLALIPLWDMCNHTNGLITTGYNLEDDRCECVAL
  QDFRAGEQIYIFYGTRSNAEFVIHSGFFFDNNSHDRVKIKLGVSKSDRLYAMKAEVLARAGIPTSSVFALHFTEP
  PISAQLLAFLRVFCMTEEELKEHLLGDSAIDRIFTLGNSEFPVSWDNEVKLWTFLEDRASLLLKTYKTTIEEDKS
  VLKNHDLSVRAKMAIKLRLGEKEILEKAVKSAAVNREYYRQQMEEKAPLPKYEESNLGLLESSVGDSRLPLVLRN
  LEEEAGVQDALNIREAISKAKATENGLVNGENSIPNGTRSENESLNQESKRAVEDAKGSSSDSTAGVKE

• Structural information:
  • Protein Domains: (94..31-)
    (/note="SET-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00190"-)
  • Interpro: IPR015353  IPR036464  IPR001214  IPR025785  
  • Prosite: PS51565 PS50280
  • PDB: 3SMT 6ICT 6ICV 6MBJ 6MBK 6MBL 6OX0 6OX1 6OX2 6OX3 6OX4 6OX5 6V62 6V63
  • PDBsum: 3SMT 6ICT 6ICV 6MBJ 6MBK 6MBL 6OX0 6OX1 6OX2 6OX3 6OX4 6OX5 6V62 6V63
  • STRING: ENSP00000327436
• Other Databases: GeneCards:  SETD3  Malacards:  SETD3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0046975	histone methyltransferase activity (H3-K36 specific)	IBA	molecular function
GO:0042800	histone methyltransferase activity (H3-K4 specific)	IBA	molecular function
GO:0018027	peptidyl-lysine dimethylation	IBA	biological process
GO:0018026	peptidyl-lysine monomethylation	IBA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0003713	transcription coactivator activity	IBA	molecular function
GO:0000790	nuclear chromatin	IBA	cellular component
GO:0016279	protein-lysine N-methyltransferase activity	IDA	NOT|molecular function
GO:0018023	peptidyl-lysine trimethylation	IDA	NOT|biological process
GO:0018021	peptidyl-histidine methylation	IDA	biological process
GO:0018021	peptidyl-histidine methylation	IDA	biological process
GO:0018021	peptidyl-histidine methylation	IDA	biological process
GO:0030047	actin modification	IDA	biological process
GO:0018064	protein-histidine N-methyltransferase activity	IDA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0030047	actin modification	IDA	biological process
GO:0018064	protein-histidine N-methyltransferase activity	IDA	molecular function
GO:0030047	actin modification	IDA	biological process
GO:0018064	protein-histidine N-methyltransferase activity	IDA	molecular function
GO:0046975	histone methyltransferase activity (H3-K36 specific)	ISS	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	ISS	biological process
GO:0018027	peptidyl-lysine dimethylation	ISS	biological process
GO:0018026	peptidyl-lysine monomethylation	ISS	biological process
GO:0018023	peptidyl-lysine trimethylation	ISS	biological process
GO:0070472	regulation of uterine smooth muscle contraction	ISS	biological process
GO:0010452	histone H3-K36 methylation	ISS	biological process
GO:0003713	transcription coactivator activity	ISS	molecular function
GO:0018064	protein-histidine N-methyltransferase activity	IEA	molecular function
GO:0030047	actin modification	IEA	biological process
GO:0003779	actin binding	IEA	molecular function
GO:0032259	methylation	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0018064	protein-histidine N-methyltransferase activity	IEA	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0030047	actin modification	IEA	biological process
GO:0018064	protein-histidine N-methyltransferase activity	IEA	molecular function
GO:0001102	RNA polymerase II activating transcription factor binding	IEA	molecular function
GO:0000790	nuclear chromatin	IEA	cellular component
GO:0070472	regulation of uterine smooth muscle contraction	IEA	biological process
GO:0051149	positive regulation of muscle cell differentiation	IEA	biological process
GO:0018021	peptidyl-histidine methylation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0051568	histone H3-K4 methylation	IEA	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray