KMT5AP1 KMT5A pseudogene 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KMT5AP1provided by HGNC
Official Full Name: KMT5A pseudogene 1provided by HGNC
Primary source: HGNC:HGNC:30088
See related: AllianceGenome:HGNC:30088
Gene type: pseudo
RefSeq status: INFERRED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SET7; SET07p; SETD8P1
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Genomic context

Location:: 13q11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (18297685..18300380)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (13610211..13612886, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	Unplaced Scaffold	NT_113923.1 (126437..129132)

Chromosome 13 - NC_000013.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Results support the hypothesis that methylation of H4 lysine 20 by PR/Set7 maintains silent chromatin, in part, by precluding neighboring acetylation on the H4 tail.
Title: PR-Set7 is a nucleosome-specific methyltransferase that modifies lysine 20 of histone H4 and is associated with silent chromatin.
H4 Lys 20 methylation by PR-Set7 during mitosis acts to antagonize H4 Lys 16 acetylation and to establish a mechanism by which this mark is epigenetically transmitted.
Title: Mitotic-specific methylation of histone H4 Lys 20 follows increased PR-Set7 expression and its localization to mitotic chromosomes.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Other Names

PR/SET domain containing protein 07 pseudogene
SET domain containing 8 pseudogene 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.