EHMT1

GENE INFORMATION

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Gene name

EHMT1 (HGNC Symbol)

Synonyms

bA188C12.1, Eu-HMTase1, FLJ12879, KIAA1876, KMT1D

Description

Euchromatic histone-lysine N-methyltransferase 1 (HGNC Symbol)

Entrez gene summary

The protein encoded by this gene is a histone methyltransferase that is part of the E2F6 complex, which represses transcription. The encoded protein methylates the Lys-9 position of histone H3, which tags it for transcriptional repression. This protein may be involved in the silencing of MYC- and E2F-responsive genes and therefore could play a role in the G0/G1 cell cycle transition. Defects in this gene are a cause of chromosome 9q subtelomeric deletion syndrome (9q-syndrome, also known as Kleefstra syndrome). Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]

Chromosome

9

Cytoband

q34.3

Chromosome location (bp)

137618992 - 137870016

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000181090 (version 78.38)

Entrez gene

79813

UniProt

Q9H9B1 (UniProt - Evidence at protein level)

neXtProt

NX_Q9H9B1

Antibodypedia

EHMT1 antibodies
 

PROTEIN VIEW

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EHMT1-001
 
EHMT1-004
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

EHMT1-001 ENSP00000417980
ENST00000460843
Q9H9B1
Show all »
Show » Show » 1298 141.5 No 0
EHMT1-004 ENSP00000417328
ENST00000462484
Q9H9B1
Show all »
Show » Show » 808 86.7 No 0