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Protein Coding Gene : Ash1l ASH1 like histone lysine methyltransferase

Primary Identifier  MGI:2183158 Organism  mouse, laboratory
Chromosome  3 NCBI Gene Number  192195
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Enables histone H3K4 methyltransferase activity and histone H3K9 methyltransferase activity. Acts upstream of or within several processes, including decidualization; tarsal gland development; and uterine gland development. Predicted to be located in Golgi apparatus and nucleus. Predicted to be active in nucleoplasm. Is expressed in early conceptus; hindlimb muscle; oocyte; and ureter. Human ortholog(s) of this gene implicated in autosomal dominant intellectual developmental disorder 52. Orthologous to human ASH1L (ASH1 like histone lysine methyltransferase).
PHENOTYPE: Homozygotes for a transposon-induced allele are more susceptible to endotoxin shock, sepsis, and autoimmune disease. Homozygotes for a hypomorphic allele show reduced growth and postnatal lethality; surviving adults lack Meibomian glands and show vertebral, reproductive organ, and fertility defects. [provided by MGI curators]
  • synonyms:
  • Ash1l,
  • RIKEN cDNA 8030453L17 gene,
  • KMT2H,
  • chromatin remodeling factor,
  • MGI:2442216,
  • E430018P19Rik,
  • MGI:2444414,
  • ASH1 like histone lysine methyltransferase,
  • 8030453L17Rik,
  • RIKEN cDNA E430018P19 gene

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Genome

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0 CDSs

0 Exons

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2 Involved In Mutations

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0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

3 Pathways

0 Targeted By

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Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

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