1. Gene
  2. SUV39H1 - SUV39H1 histone lysine methyltransferase Gene

SUV39H1 - SUV39H1 histone lysine methyltransferase Gene

Homo sapiens

Also known as MG44; KMT1A; SUV39H; H3-K9-HMTase 1

Gene ID: 6839 | Gene type: protein coding

About SUV39H1

Cytogenetic location: Xp11.23 Genomic coordinates (GRCh38): X:48,695,554-48,709,016 (from NCBI)

This gene has 4 transcripts (splice variants), 221 orthologues and 19 paralogues. Ubiquitous expression in bone marrow (RPKM 4.9), lymph node (RPKM 3.6) and 24 other tissues.

Summary

This gene encodes an evolutionarily-conserved protein containing an N-terminal chromodomain and a C-terminal SET domain. The encoded protein is a Histone Methyltransferase that trimethylates lysine 9 of histone H3, which results in transcriptional gene silencing. Loss of function of this gene disrupts heterochromatin formation and may cause chromosome instability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

SUV39H1 Products(2)

mRNA Protein Name
NM_001282166.2 NP_001269095.1 histone-lysine N-methyltransferase SUV39H1 isoform 1
NM_003173.4 NP_003164.1 histone-lysine N-methyltransferase SUV39H1 isoform 2

SUV39H1 Protein Structure

Chromo

Chromo: Chromo (CHRromatin Organisation MOdifier) domain (43 - 91)

Pre-SET

Pre-SET: Pre-SET motif (139 - 235)

SET

SET: SET domain (255 - 366)

  • 0
  • 100
  • 200
  • 300
  • 412 a.a.
Protein Preferred Names Protein Names

histone-lysine N-methyltransferase SUV39H1

Su(var)3-9 homolog 1

Related Diseases

Diseases Alias
Hutchinson-Gilford Progeria Syndrome

Progeria

HGPS

Hutchinson-Gilford Syndrome

Hutchinson-Gilford Progeria

Hutchinson Gilford Syndrome

Hutchinson Gilford Progeria Syndrome

Hutchinson-Gilford Disease

Progeria Of Childhood

Hutchinson-Gilford-Progeria Syndrome

Hyperoxaluria, Primary, Type I

Primary Hyperoxaluria Type 1

HP1

Glycolic Aciduria

Alanine-Glyoxylate Aminotransferase Deficiency

Hepatic Agt Deficiency

Oxalosis I

Primary Hyperoxaluria, Type I

Serine:Pyruvate Aminotransferase Deficiency

Hyperoxaluria, Primary, Type 1

Peroxisomal Alanine-Glyoxylate Aminotransferase Deficiency

Peroxisomal Alanine Glyoxylate Aminotransferase Deficiency

Serine Pyruvate Aminotransferase Deficiency

Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency

Oxalosis 1

Hyperoxaluria Primary 1

Hyperoxaluria Primary Type I

Ph1

Primary Hyperoxaluria Type I

Oxalosis Type 1

2-Oxoglutarate Glyoxylate Carboligase Deficiency

Retinoblastoma

RB

Trilateral Retinoblastoma

RB1

Retinoblastoma, Trilateral

Neuroblastoma Of Retina

Rb - Retinoblastoma

Eye Cancer, Retinoblastoma

Retinal Cancer

Retinal Tumor

Glioma, Retinal

Non-Hereditary Retinoblastoma

Childhood Cancer Retinoblastoma

Malignant Neoplasm Of Retina

Retinal Neoplasms

Primary Hyperoxaluria

Hyperoxaluria

Hyperoxaluria, Primary

Oxalosis

Primary Oxalosis

Congenital Oxaluria

D-Glycerate Dehydrogenase Deficiency

Glyceric Aciduria

Glycolic Aciduria

Hepatic Agt Deficiency

Oxaluria, Primary

Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency

Primary Oxaluria

Hyperoxaluria Primary

Primary Hyperoxaluria Type 2

Primary Hyperoxaluria, Type I

Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome

Icf Syndrome

Immunodeficiency Syndrome, Variable

Ciid

Centromeric Instability, Immunodeficiency Syndrome

Immune Deficiency, Variable, With Centromeric Instability Of Chromosomes 1, 9, And 16

Icf

Rhabdomyosarcoma
Alpha-Thalassemia

Alpha Thalassemia

Alpha Thalassaemia

Alpha Plus Thalassemia

Thalassemia, Alpha-

Thalassemias, Alpha-

A-Thalassemia

Α-Thalassemia

A-THAL

Thalassemia

Alpha Thalassaemia Syndrome

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
Mus musculus SUV39H1 MGD MGI:1099440
Bos taurus SUV39H1 VGNC VGNC:35491
Canis familiaris SUV39H1 VGNC VGNC:47001
Felis catus SUV39H1 VGNC VGNC:65857
Macaca mulatta SUV39H1 VGNC VGNC:78061