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  2. KMT5A - lysine methyltransferase 5A Gene

KMT5A - lysine methyltransferase 5A Gene

Homo sapiens

Also known as SET8; SET07; SETD8; PR-Set7; PR/SET07

Gene ID: 387893 | Gene type: protein coding

About KMT5A

Cytogenetic location: 12q24.31 Genomic coordinates (GRCh38): 12:123,384,132-123,409,353 (from NCBI)

This gene has 8 transcripts (splice variants) and 102 orthologues. Ubiquitous expression in prostate (RPKM 17.6), esophagus (RPKM 16.8) and 25 other tissues.

Summary

The protein encoded by this gene is a protein-lysine N-methyltransferase that can monomethylate Lys-20 of histone H4 to effect transcriptional repression of some genes. The encoded protein is required for cell proliferation and plays a role in chromatin condensation. [provided by RefSeq, May 2016]

KMT5A Products(7)

mRNA Protein Name
NM_001324504.2 NP_001311433.1 N-lysine methyltransferase KMT5A isoform 2
NM_001324505.2 NP_001311434.1 N-lysine methyltransferase KMT5A isoform 3
NM_001324506.2 NP_001311435.1 N-lysine methyltransferase KMT5A isoform 4
NM_001367386.2 NP_001354315.1 N-lysine methyltransferase KMT5A isoform 5
NM_001367388.2 NP_001354317.1 N-lysine methyltransferase KMT5A isoform 6
NM_001367389.2 NP_001354318.1 N-lysine methyltransferase KMT5A isoform 4
NM_020382.7 NP_065115.3 N-lysine methyltransferase KMT5A isoform 1

KMT5A Protein Structure

SET

SET: SET domain (227 - 337)

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

N-lysine methyltransferase KMT5A

H4-K20-HMTase KMT5A

Recombinant KMT5A Proteins

Cat. No. Product Name Accession Purity
HY-P74613 PR-Set7 Protein, Human NP_065115.3 (K195-H352) ≥95%

Related Diseases

Diseases Alias
Meier-Gorlin Syndrome 1

Meier-Gorlin Syndrome

Ear, Patella, Short Stature Syndrome

Microtia, Absent Patellae, Micrognathia Syndrome

MGORS1

Eps

Ear-Patella-Short Stature Syndrome

Ear Patella Short Stature Syndrome

Microtia Absent Patellae Micrognathia Syndrome

Meier-Gorlin Syndrome, Type 1

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 KMT5A VGNC VGNC:42493
Bos taurus KMT5A VGNC VGNC:53910
Rattus norvegicus KMT5A RGD RGD:1587560
Mus musculus KMT5A MGD MGI:1915206
Macaca mulatta KMT5A VGNC VGNC:74159
Others KMT5A NCBI