Hr Gene Summary [Mouse]
This gene encodes a protein that is involved in hair growth. This protein functions as a transcriptional corepressor of multiple nuclear receptors, including thyroid hormone receptor, the retinoic acid receptor-related orphan receptors and the vitamin D receptors, and it interacts with histone deacetylases. The translation of this protein is modulated by a regulatory ORF that exists upstream of the primary ORF. Mutations in this upstream ORF, U2HR, cause Marie Unna hereditary hypotrichosis (MUHH), an autosomal dominant form of genetic hair loss in human. [provided by RefSeq, Oct 2014]
Details
| Type | Processed Transcript |
| Official Symbol | Hr |
| Official Name | lysine demethylase and nuclear receptor corepressor [Source:MGI Symbol;Acc:MGI:96223] |
| Ensembl ID | ENSMUSG00000022096 |
| Bio databases IDs | |
| Aliases | lysine demethylase and nuclear receptor corepressor |
| Synonyms | ALUNC, AU, bldy, Hairless, HR lysine demethylase and nuclear receptor corepressor, HR, lysine demethylase and nuclear receptor corepressor, HSA277165, HYPT4, lysine demethylase and nuclear receptor corepressor, MUHH, MUHH1, rh-bmh |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Hr often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- transcription regulator
- LXXLL motif
- binding protein
- transcription co-repressor
- vitamin D receptor binding
- histone deacetylase binding
- corepressor motif
- thyroid hormone receptor binding domain
- protein binding
- thyroid hormone receptor binding
Pathways
Biological processes and signaling networks where the Hr gene in mouse plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- atrichia with papular lesions
- alopecia
- hyperplasia
- alopecia universalis congenita
- hypotrichosis type 4
- lymphadenopathy
phenotypes
- Meibomian gland atrophy
- Meibomian gland cyst
- abnormal Meibomian gland acinus morphology
- abnormal Meibomian gland morphology
- abnormal coat appearance
- abnormal colon morphology
- abnormal dermal layer morphology
- abnormal dermis reticular layer morphology
- abnormal epidermal layer morphology
- abnormal epidermis stratum corneum morphology
- abnormal epidermis stratum granulosum morphology
- abnormal eyelid margin morphology
- abnormal eyelid morphology
- abnormal forehead morphology
- abnormal hair cycle
- abnormal hair follicle dermal papilla morphology
- abnormal hair follicle infundibulum morphology
- abnormal hair follicle inner root sheath morphology
- abnormal hair follicle morphology
- abnormal hair follicle outer root sheath morphology
- abnormal hair growth
- abnormal hair shaft morphology
- abnormal hepatocyte morphology
- abnormal immunoglobulin level
- abnormal intestinal mucosa morphology
- abnormal keratinocyte differentiation
- abnormal lactation
- abnormal lymph node secondary follicle morphology
- abnormal mammary gland morphology
- abnormal nipple development
- abnormal nursing
- abnormal piliary canal morphology
- abnormal sebaceous gland morphology
- abnormal skin adnexa physiology
- abnormal skin appearance
- abnormal skin condition
- abnormal skin morphology
- abnormal thymus involution
- abnormal vibrissa follicle morphology
- abnormal vibrissa morphology
- abnormal vibrissa number
- absent cochlear hair cell stereocilia
- absent hair follicle dermal papilla
- absent linear vestibular evoked potential
- absent mammary gland
- acanthosis
- alopecia
- cochlear ganglion hypoplasia
- curly vibrissae
- decreased IgM level
- decreased T cell number
- decreased T cell proliferation
- decreased body size
- decreased body weight
- decreased cochlear inner hair cell number
- decreased cochlear outer hair cell number
- decreased nipple number
- decreased ovulation rate
- decreased sebocyte cell number
- decreased small intestinal villus height
- decreased thymus weight
- deformed nails
- dermal cysts
- dilated hair follicle infundibulum
- dilated hair follicles
- dilated piliary canal
- distended hair follicles
- enlarged inguinal lymph nodes
- enlarged popliteal lymph nodes
- epidermal cyst
- epidermal hyperplasia
- epidermis stratum granulosum hyperplasia
- eye inflammation
- female infertility
- flaky skin
- glomerulonephritis
- granulomatous inflammation
- hair follicle degeneration
- hairless
- hypergranulosis
- hyperkeratosis
- increased IgG level
- increased leukemia incidence
- increased macrophage cell number
- increased susceptibility to autoimmune disorder
- long toenails
- loose skin
- loss of eyelid cilia
- loss of vibrissae
- lymph node inflammation
- lymph node medullary cord hyperplasia
- premature death
- preweaning lethality incomplete penetrance
- progressive hair loss
- sebaceous gland atrophy
- shiny skin
- short hair
- short vibrissae
- skin hyperplasia
- skin lesions
- skin ridges
- small sebaceous gland
- sparse hair
- thick dermal layer
- thick epidermis
- thick eyelids
- thick skin
- thin hypodermis
- thin retinal ganglion layer
- thin retinal inner plexiform layer
- thin skin
- thymus atrophy
- thymus cortex atrophy
- translucent skin
- wavy vibrissae
- wrinkled skin
role in cell
- activation in
- number
- apoptosis
- proliferation
- expression in
- quantity
- damage in
- demethylation in
- transactivation in
- methylation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- cell cortex
- MAD bodies
- nucleoplasm
- nuclear bodies
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Hr gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- chromatin remodeling
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- histone deacetylase complex
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- chromatin DNA binding
- transcription cofactor activity
- protein binding
- metal ion binding
- histone demethylase activity (H3-K9 specific)