1. Gene
  2. SMYD1 - SET and MYND domain containing 1 Gene

SMYD1 - SET and MYND domain containing 1 Gene

Homo sapiens

Also known as BOP; KMT3D; ZMYND18; ZMYND22

Gene ID: 150572 | Gene type: protein coding

About SMYD1

Cytogenetic location: 2p11.2 Genomic coordinates (GRCh38): 2:88,067,825-88,113,384 (from NCBI)

This gene has 4 transcripts (splice variants), 287 orthologues and 5 paralogues. Restricted expression toward heart (RPKM 63.9).

Summary

Predicted to enable histone-lysine N-methyltransferase activity. Involved in positive regulation of myoblast differentiation and positive regulation of myotube differentiation. Predicted to be located in cytoplasm. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]

SMYD1 Products(2)

mRNA Protein Name
NM_001330364.2 NP_001317293.1 histone-lysine N-methyltransferase SMYD1 isoform 2
NM_198274.4 NP_938015.1 histone-lysine N-methyltransferase SMYD1 isoform 1

SMYD1 Protein Structure

SET

SET: SET domain (18 - 252)

zf-MYND

zf-MYND: MYND finger (52 - 90)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 490 a.a.
Protein Preferred Names Protein Names

histone-lysine N-methyltransferase SMYD1

CD8 beta opposite

Related Diseases

Diseases Alias
Distal Muscular Dystrophy With Anterior Tibial Onset

Dmat

Epiphyseal Dysplasia, Multiple, 1

EDM1

Multiple Epiphyseal Dysplasia 1

Multiple Epiphyseal Dysplasia Type 1

Med1

Multiple Epiphyseal Dysplasia Comp-Related

Polyepiphyseal Dysplasia Type 1

Multiple Epiphyseal Dysplasia, Comp-Related

Epiphyseal Dysplasia Multiple 1

Epiphyseal Dysplasia, Multiple 1

Dysplasia, Epiphyseal, Multiple, Type 1

Tetralogy Of Fallot

TOF

Fallot Tetralogy

Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle

Tetrad Of Fallot

Fallot Tetrad

Fallot Disease

Fallot Complex

Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy

Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle

Interventricular Septal Defect, In Tetralogy Of Fallot

Ventricular Septal Defect With Obstructed Right Ventricular Outflow

Tof - [Tetralogy Of Fallot]

Pulmonary Atresia With Ventricular Septal Defect [Fallot Type]

Pulmonary Atresia, Ventricular Septal Defect And Mapcas

Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris SMYD1 VGNC VGNC:46581
Bos taurus SMYD1 VGNC VGNC:35042
Macaca mulatta SMYD1 VGNC VGNC:77751
Rattus norvegicus SMYD1 RGD RGD:1305105
Felis catus SMYD1 VGNC VGNC:81223
Mus musculus SMYD1 MGD MGI:104790