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Aliases for HR Gene

Aliases for HR Gene

  • Hair Growth Associated 2 3
  • MUHH1 3 6
  • AU 3 6
  • Lysine-Specific Demethylase Hairless 3
  • Hairless (Mouse) Homolog 2
  • Hairless Homolog (Mouse) 2
  • Hairless Homolog 3
  • Protein Hairless 3
  • EC 1.14.11.- 4
  • HSA277165 3
  • HYPT4 3
  • ALUNC 3
  • MUHH 3

External Ids for HR Gene

Previous HGNC Symbols for HR Gene

  • ALUNC

Previous GeneCards Identifiers for HR Gene

  • GC08M021730
  • GC08M022324
  • GC08M021792
  • GC08M021994
  • GC08M022028
  • GC08M020514
  • GC08M021971

Summaries for HR Gene

Entrez Gene Summary for HR Gene

  • 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]

GeneCards Summary for HR Gene

HR (Hair Growth Associated) is a Protein Coding gene. Diseases associated with HR include atrichia with papular lesions and hypotrichosis 4. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and transcription corepressor activity. An important paralog of this gene is KDM3A.

UniProtKB/Swiss-Prot for HR Gene

  • Histone demethylase that specifically demethylates both mono- and dimethylated Lys-9 of histone H3. May act as a transcription regulator controlling hair biology (via targeting of collagens), neural activity, and cell cycle.

Gene Wiki entry for HR Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HR Gene

Genomics for HR Gene

Regulatory Elements for HR Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for HR Gene

Start:
22,114,415 bp from pter
End:
22,133,384 bp from pter
Size:
18,970 bases
Orientation:
Minus strand

Genomic View for HR Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HR Gene

Proteins for HR Gene

  • Protein details for HR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43593-HAIR_HUMAN
    Recommended name:
    Lysine-specific demethylase hairless
    Protein Accession:
    O43593
    Secondary Accessions:
    • Q6GS30
    • Q96H33
    • Q9NPE1

    Protein attributes for HR Gene

    Size:
    1189 amino acids
    Molecular mass:
    127495 Da
    Cofactor:
    Name=Fe(2+); Xref=ChEBI:CHEBI:29033; Note=Binds 1 Fe(2+) ion per subunit.;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for HR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HR Gene

Proteomics data for HR Gene at MOPED

Post-translational modifications for HR Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HR Gene

Antibody Products

No data available for DME Specific Peptides for HR Gene

Domains for HR Gene

Protein Domains for HR Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for HR Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O43593

UniProtKB/Swiss-Prot:

HAIR_HUMAN :
  • O43593
Domain:
  • Contains two Leu-Xaa-Xaa-Leu-Leu (LXXLL) motifs. The LXXLL motifs are essential for the association with nuclear receptors (By similarity).
  • The JmjC domain and the C6-type zinc-finger are required for the demethylation activity.
  • Contains 1 JmjC domain.
genes like me logo Genes that share domains with HR: view

No data available for Gene Families for HR Gene

Function for HR Gene

Molecular function for HR Gene

GENATLAS Biochemistry:
hairless,putative transcription factor,mouse homolog,with two alternatively spliced isoforms,one containing exon 17,expressed in all tissues but skin,the other lacking exon 17,specifically expressed in skin
UniProtKB/Swiss-Prot Function:
Histone demethylase that specifically demethylates both mono- and dimethylated Lys-9 of histone H3. May act as a transcription regulator controlling hair biology (via targeting of collagens), neural activity, and cell cycle.

Enzyme Numbers (IUBMB) for HR Gene

Gene Ontology (GO) - Molecular Function for HR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding NAS 9445480
GO:0003700 sequence-specific DNA binding transcription factor activity NAS 9445480
GO:0003714 transcription corepressor activity IEA --
GO:0005515 protein binding --
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with HR: view
genes like me logo Genes that share phenotypes with HR: view

Animal Models for HR Gene

MGI Knock Outs for HR:
  • Hr tm1Cct

Animal Model Products

No data available for miRNA , Transcription Factor Targeting and HOMER Transcription for HR Gene

Localization for HR Gene

Subcellular locations from UniProtKB/Swiss-Prot for HR Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HR Gene COMPARTMENTS Subcellular localization image for HR gene
Compartment Confidence
nucleus 5
cytosol 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for HR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus NAS 9445480
GO:0016604 nuclear body IEA --
genes like me logo Genes that share ontologies with HR: view

Pathways for HR Gene

SuperPathways for HR Gene

No Data Available

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for HR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated NAS 9445480
GO:0045892 negative regulation of transcription, DNA-templated IEA --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with HR: view

No data available for Pathways by source for HR Gene

Transcripts for HR Gene

Unigene Clusters for HR Gene

Hair growth associated:
Representative Sequences:

Inhibitory RNA Products

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for HR Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b · 15c ^ 16 ^ 17a · 17b ^ 18a ·
SP1: - - - -
SP2: - - - - - -
SP3: - -
SP4:
SP5:
SP6:
SP7:
SP8:

ExUns: 18b ^ 19 ^ 20
SP1:
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for HR Gene

GeneLoc Exon Structure for
HR
ECgene alternative splicing isoforms for
HR

Expression for HR Gene

mRNA expression in normal human tissues for HR Gene

mRNA differential expression in normal tissues according to GTEx for HR Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (7.6) and Skin - Sun Exposed (Lower leg) (7.1).

Protein differential expression in normal tissues for HR Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for HR Gene

SOURCE GeneReport for Unigene cluster for HR Gene Hs.272367

mRNA Expression by UniProt/SwissProt for HR Gene

O43593-HAIR_HUMAN
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.
genes like me logo Genes that share expressions with HR: view

Expression partners for HR Gene

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for HR Gene

Orthologs for HR Gene

This gene was present in the common ancestor of animals.

Orthologs for HR Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia HR 35
  • 84.87 (n)
  • 81.37 (a)
HR 36
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HR 35
  • 86.43 (n)
  • 84.12 (a)
HR 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hr 35
  • 81.67 (n)
  • 80.12 (a)
Hr 16
Hr 36
  • 80 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia HR 35
  • 99.13 (n)
  • 98.49 (a)
HR 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hr 35
  • 81.43 (n)
  • 79.59 (a)
oppossum
(Monodelphis domestica)
Mammalia HR 36
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HR 36
  • 59 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta JHDM2 36
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7055 36
  • 21 (a)
OneToMany
Species with no ortholog for HR:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for HR Gene

ENSEMBL:
Gene Tree for HR (if available)
TreeFam:
Gene Tree for HR (if available)

Paralogs for HR Gene

Paralogs for HR Gene

genes like me logo Genes that share paralogs with HR: view

Variants for HR Gene

Sequence variations from dbSNP and Humsavar for HR Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type MAF
rs4391429 -- 22,132,335(+) GGGCC(A/G)TGTTG upstream-variant-2KB
rs4872300 -- 22,118,854(+) GGGGC(A/G)GGGAG intron-variant
rs6557829 -- 22,116,457(+) TGAGG(A/C)TCAAG intron-variant
rs6557830 -- 22,116,519(+) TGACA(A/C)CCACC intron-variant
rs6557831 -- 22,117,698(+) CTCGC(A/C/G/T)GAGGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for HR Gene

Variant ID Type Subtype PubMed ID
essv19243 CNV CNV 17122850
essv21913 CNV CNV 17122850
dgv7756n71 CNV Loss 21882294
nsv831263 CNV Loss 17160897
nsv528590 CNV Loss 19592680
dgv7757n71 CNV Loss 21882294
nsv890654 CNV Loss 21882294
nsv465613 CNV Loss 19166990
dgv7758n71 CNV Loss 21882294
nsv890657 CNV Loss 21882294
nsv831264 CNV Gain+Loss 17160897
dgv450n21 CNV Loss 19592680
dgv881n27 CNV Loss 19166990
nsv470204 CNV Loss 18288195
nsv527293 CNV Loss 19592680
nsv524720 CNV Loss 19592680

Relevant External Links for HR Gene

HapMap Linkage Disequilibrium report
HR
Human Gene Mutation Database (HGMD)
HR

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HR Gene

Disorders for HR Gene

(3) OMIM Diseases for HR Gene (602302)

UniProtKB/Swiss-Prot

HAIR_HUMAN
  • Alopecia universalis congenita (ALUNC) [MIM:203655]: A rare disorder characterized by loss of hair from the entire body. No hair are present in hair follicles on skin biopsy. {ECO:0000269 PubMed:12406339, ECO:0000269 PubMed:9445480, ECO:0000269 PubMed:9736769}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Atrichia with papular lesions (APL) [MIM:209500]: An autosomal recessive disease characterized by papillary lesions over most of the body and almost complete absence of hair. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Hypotrichosis 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. {ECO:0000269 PubMed:19122663, ECO:0000269 PubMed:24961381}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for HR Gene

(3) Novoseek inferred disease relationships for HR Gene

Disease -log(P) Hits PubMed IDs
atrichia 97.8 5
papular atrichia 97.5 2
congenital alopecia 91.4 1

Relevant External Links for HR

Genetic Association Database (GAD)
HR
Human Genome Epidemiology (HuGE) Navigator
HR
genes like me logo Genes that share disorders with HR: view

No data available for Genatlas for HR Gene

Publications for HR Gene

  1. Genomic organization of the human hairless gene (HR) and identification of a mutation underlying congenital atrichia in an Arab Palestinian family. (PMID: 10051399) Ahmad W. … Christiano A.M. (Genomics 1999) 2 3 4 23
  2. Hairless is a histone H3K9 demethylase. (PMID: 24334705) Liu L. … Christiano A.M. (FASEB J. 2014) 2 3 4
  3. The hairless gene in androgenetic alopecia: results of a systematic mutation screening and a family-based association approach. (PMID: 11966690) Hillmer A.M. … Cichon S. (Br. J. Dermatol. 2002) 3 23 48
  4. Atrichia with papular lesions resulting from compound heterozygous mutations in the hairless gene: A lesson for differential diagnosis of alopecia universalis. (PMID: 12271294) Henn W. … Christiano A.M. (J. Am. Acad. Dermatol. 2002) 3 23
  5. Identification of mutations in the human hairless gene in two new families with congenital atrichia. (PMID: 17372750) Betz R.C. … Sprecher E. (Arch. Dermatol. Res. 2007) 3 23

Products for HR Gene

Sources for HR Gene

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