Human Gene HR (ENST00000381418.9) from GENCODE V44
Description: Homo sapiens HR lysine demethylase and nuclear receptor corepressor (HR), transcript variant 1, mRNA. (from RefSeq NM_005144) RefSeq Summary (NM_005144): 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 open reading frame (ORF) that exists upstream of the primary ORF. Mutations in this upstream ORF cause Marie Unna hereditary hypotrichosis (MUHH), an autosomal dominant form of genetic hair loss. Mutations in this gene also cause autosomal recessive congenital alopecia and atrichia with papular lesions, other diseases resulting in hair loss. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2014]. Gencode Transcript: ENST00000381418.9 Gencode Gene: ENSG00000168453.16 Transcript (Including UTRs) Position: hg38 chr8:22,114,419-22,131,010 Size: 16,592 Total Exon Count: 19 Strand: - Coding Region Position: hg38 chr8:22,115,700-22,129,170 Size: 13,471 Coding Exon Count: 18
ID:HAIR_HUMAN DESCRIPTION: RecName: Full=Protein hairless; FUNCTION: May act as a transcription factor that could act on to regulate one of the phases of hair growth. SUBCELLULAR LOCATION: Nucleus. TISSUE SPECIFICITY: Strongest expression of isoforms 1 and 2 is seen in the small intestine, weaker expression in brain and colon, and trace expression is found in liver, pancreas, spleen, thymus, stomach, salivary gland, appendix and trachea. Isoform 1 is always the most abundant. Isoform 1 is exclusively expressed at low levels in kidney and testis. Isoform 2 is exclusively expressed at high levels in the skin. DISEASE: Defects in HR are the cause of alopecia universalis congenita (ALUNC) [MIM:203655]. ALUNC is a rare autosomal recessive form of hair loss characterized by hair follicles without hair. DISEASE: Defects in HR are the cause of atrichia with papular lesions (APL) [MIM:209500]; also known as congenital atrichia. APL is an autosomal recessive disease characterized by papillary lesions over most of the body and almost complete absence of hair. DISEASE: Defects in HR are the cause of hypotrichosis type 4 (HYPT4) [MIM:146550]. An autosomal dominant condition characterized by reduced amount of hair, alopecia, little or no eyebrows, eyelashes or body hair, and coarse, wiry, twisted hair in early childhood. SIMILARITY: Contains 1 JmjC domain. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HR";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O43593
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
