• Gene id: 150572

Gene Summary

• Gene Symbol: SMYD1   Gene   UCSC   Ensembl
• Aliases: BOP, KMT3D, ZMYND18, ZMYND22
• Gene name: SET and MYND domain containing 1
• Alternate names: histone-lysine N-methyltransferase SMYD1, CD8 beta opposite, SET and MYND domain-containing protein 1, zinc finger, MYND domain containing 18,
• Gene location: 2p11.2 (88067824: 88113383)     Exons: 10     NC_000002.12
• OMIM: 617160

Protein Summary

• Protein general information: Q8NB12  
  • Name: Histone lysine N methyltransferase SMYD1 (EC 2.1.1.354) (SET and MYND domain containing protein 1)
  • Length: 490  
  • Mass: 56617
  • Tissue specificity: Expression seems mostly restricted to heart and skeletal muscle. {ECO
• Sequence:

  MTIGRMENVEVFTAEGKGRGLKATKEFWAADIIFAERAYSAVVFDSLVNFVCHTCFKRQEKLHRCGQCKFAHYCD
  RTCQKDAWLNHKNECSAIKRYGKVPNENIRLAARIMWRVEREGTGLTEGCLVSVDDLQNHVEHFGEEEQKDLRVD
  VDTFLQYWPPQSQQFSMQYISHIFGVINCNGFTLSDQRGLQAVGVGIFPNLGLVNHDCWPNCTVIFNNGNHEAVK
  SMFHTQMRIELRALGKISEGEELTVSYIDFLNVSEERKRQLKKQYYFDCTCEHCQKKLKDDLFLGVKDNPKPSQE
  VVKEMIQFSKDTLEKIDKARSEGLYHEVVKLCRECLEKQEPVFADTNIYMLRMLSIVSEVLSYLQAFEEASFYAR
  RMVDGYMKLYHPNNAQLGMAVMRAGLTNWHAGNIEVGHGMICKAYAILLVTHGPSHPITKDLEAMRVQTEMELRM
  FRQNEFMYYKMREAALNNQPMQVMAEPSNEPSPALFHKKQ

• Structural information:
  • Protein Domains: (7..25-)
    (/note="SET-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00190"-)
  • Interpro: IPR001214  IPR011990  IPR002893  
  • Prosite: PS50280 PS01360 PS50865
  • STRING: ENSP00000393453
• Other Databases: GeneCards:  SMYD1  Malacards:  SMYD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IBA	cellular component
GO:0034968	histone lysine methylation	IBA	biological process
GO:0018024	histone-lysine N-methyltransferase activity	IBA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0032259	methylation	IEA	biological process
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
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: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: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: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: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: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: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: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: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: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:0005515	protein binding	IPI	molecular function
GO:0035914	skeletal muscle cell differentiation	IEA	biological process
GO:0007507	heart development	IEA	biological process
GO:0006338	chromatin remodeling	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003714	transcription corepressor activity	IEA	molecular function
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0010831	positive regulation of myotube differentiation	IDA	biological process
GO:0045663	positive regulation of myoblast differentiation	IDA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00310	Lysine degradation

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq