Gene Gene information from NCBI Gene database.
Entrez ID 150572
Gene name SET and MYND domain containing 1
Gene symbol SMYD1
Synonyms (NCBI Gene)
BOPKMT3DZMYND18ZMYND22
Chromosome 2
Chromosome location 2p11.2
miRNA miRNA information provided by mirtarbase database.
519
miRTarBase ID miRNA Experiments Reference
MIRT017526 hsa-miR-335-5p Microarray 18185580
MIRT050011 hsa-miR-28-5p CLASH 23622248
MIRT038201 hsa-miR-151a-5p CLASH 23622248
MIRT622173 hsa-miR-3938 HITS-CLIP 23824327
MIRT622172 hsa-miR-1470 HITS-CLIP 23824327
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
HDGF Repression 19162039
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
GO ID Ontology Definition Evidence Reference
GO:0003677 Function DNA binding IEA
GO:0003714 Function Transcription corepressor activity IEA
GO:0005515 Function Protein binding IPI 23455924, 24981860, 25416956, 28514442, 29892012, 31515488, 32296183, 33961781
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606846 20986 ENSG00000115593
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8NB12
Protein name Histone-lysine N-methyltransferase SMYD1 (EC 2.1.1.354) (SET and MYND domain-containing protein 1)
Protein function Methylates histone H3 at 'Lys-4' (H3K4me), seems able to perform both mono-, di-, and trimethylation. Acts as a transcriptional repressor. Essential for cardiomyocyte differentiation and cardiac morphogenesis.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00856 SET 18 253 SET domain Family
PF01753 zf-MYND 52 90 MYND finger Domain
Tissue specificity TISSUE SPECIFICITY: Expression seems mostly restricted to heart and skeletal muscle. {ECO:0000269|PubMed:19783823}.
Sequence
MTIGRMENVEVFTAEGKGRGLKATKEFWAADIIFAERAYSAVVFDSLVNFVCHTCFKRQE
KLHRCGQCKFAHYCDRTCQKDAWLNHKNEC
SAIKRYGKVPNENIRLAARIMWRVEREGTG
LTEGCLVSVDDLQNHVEHFGEEEQKDLRVDVDTFLQYWPPQSQQFSMQYISHIFGVINCN
GFTLSDQRGLQAVGVGIFPNLGLVNHDCWPNCTVIFNNGNHEAVKSMFHTQMRIELRALG
KISEGEELTVSYI
DFLNVSEERKRQLKKQYYFDCTCEHCQKKLKDDLFLGVKDNPKPSQE
VVKEMIQFSKDTLEKIDKARSEGLYHEVVKLCRECLEKQEPVFADTNIYMLRMLSIVSEV
LSYLQAFEEASFYARRMVDGYMKLYHPNNAQLGMAVMRAGLTNWHAGNIEVGHGMICKAY
AILLVTHGPSHPITKDLEAMRVQTEMELRMFRQNEFMYYKMREAALNNQPMQVMAEPSNE
PSPALFHKKQ
Sequence length 490
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Lysine degradation
Metabolic pathways
 
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
HYPERTROPHIC CARDIOMYOPATHY Disgenet, GenCC
Disgenet, GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
RETINAL DETACHMENT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 17632087, 23349788
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 30930987
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 19853959, 23475608
★☆☆☆☆
Found in Text Mining only
Cardiomyopathies Cardiomyopathy Pubtator 36980931 Associate
★☆☆☆☆
Found in Text Mining only
Cardiomyopathy Hypertrophic Hypertrophic cardiomyopathy Pubtator 36980931 Associate
★☆☆☆☆
Found in Text Mining only
Cleft Palate Cleft palate Pubtator 31204702 Associate
★☆☆☆☆
Found in Text Mining only
Congestive heart failure Congestive Heart Failure BEFREE 27663768, 30061404, 31278431
★☆☆☆☆
Found in Text Mining only
Developmental absence of tooth Anodontia BEFREE 29520791
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus BEFREE 28691473
★☆☆☆☆
Found in Text Mining only
DiGeorge Syndrome Digeorge syndrome Pubtator 31204702 Associate
★☆☆☆☆
Found in Text Mining only