Seroatlas · Human Serome Atlas

HR

Lysine-specific demethylase hairless

Also known as: ALUNC, AU, HAIR_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: O43593
Gene: HR
Ensembl: ENSG00000168453
Chromosome: 8
Canonical length: 1189 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins
Subcellular location: Nucleoplasm

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

1189 residues, UniProt reviewed canonical sequence.

>O43593|HR
     1  MESTPSFLKG TPTWEKTAPE NGIVRQEPGS PPRDGLHHGP LCLGEPAPFW RGVLSTPDSW
    61  LPPGFPQGPK DMLPLVEGEG PQNGERKVNW LGSKEGLRWK EAMLTHPLAF CGPACPPRCG
   121  PLMPEHSGGH LKSDPVAFRP WHCPFLLETK ILERAPFWVP TCLPPYLVSG LPPEHPCDWP
   181  LTPHPWVYSG GQPKVPSAFS LGSKGFYYKD PSIPRLAKEP LAAAEPGLFG LNSGGHLQRA
   241  GEAERPSLHQ RDGEMGAGRQ QNPCPLFLGQ PDTVPWTSWP ACPPGLVHTL GNVWAGPGDG
   301  NLGYQLGPPA TPRCPSPEPP VTQRGCCSSY PPTKGGGLGP CGKCQEGLEG GASGASEPSE
   361  EVNKASGPRA CPPSHHTKLK KTWLTRHSEQ FECPRGCPEV EERPVARLRA LKRAGSPEVQ
   421  GAMGSPAPKR PPDPFPGTAE QGAGGWQEVR DTSIGNKDVD SGQHDEQKGP QDGQASLQDP
   481  GLQDIPCLAL PAKLAQCQSC AQAAGEGGGH ACHSQQVRRS PLGGELQQEE DTATNSSSEE
   541  GPGSGPDSRL STGLAKHLLS GLGDRLCRLL RREREALAWA QREGQGPAVT EDSPGIPRCC
   601  SRCHHGLFNT HWRCPRCSHR LCVACGRVAG TGRAREKAGF QEQSAEECTQ EAGHAACSLM
   661  LTQFVSSQAL AELSTAMHQV WVKFDIRGHC PCQADARVWA PGDAGQQKES TQKTPPTPQP
   721  SCNGDTHRTK SIKEETPDSA ETPAEDRAGR GPLPCPSLCE LLASTAVKLC LGHERIHMAF
   781  APVTPALPSD DRITNILDSI IAQVVERKIQ EKALGPGLRA GPGLRKGLGL PLSPVRPRLP
   841  PPGALLWLQE PQPCPRRGFH LFQEHWRQGQ PVLVSGIQRT LQGNLWGTEA LGALGGQVQA
   901  LSPLGPPQPS SLGSTTFWEG FSWPELRPKS DEGSVLLLHR ALGDEDTSRV ENLAASLPLP
   961  EYCALHGKLN LASYLPPGLA LRPLEPQLWA AYGVSPHRGH LGTKNLCVEV ADLVSILVHA
  1021  DTPLPAWHRA QKDFLSGLDG EGLWSPGSQV STVWHVFRAQ DAQRIRRFLQ MVCPAGAGAL
  1081  EPGAPGSCYL DAGLRRRLRE EWGVSCWTLL QAPGEAVLVP AGAPHQVQGL VSTVSVTQHF
  1141  LSPETSALSA QLCHQGPSLP PDCHLLYAQM DWAVFQAVKV AVGTLQEAK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against HR can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.52
Highest tissue expression: 53 nTPM

Expression across tissuesHPA

Tissue

skin: 53 nTPM
cerebellum: 31 nTPM
esophagus: 21 nTPM
cerebral cortex: 18 nTPM
vagina: 12 nTPM
colon: 9 nTPM

Single-cell type

retinal bipolar cells: 69 nCPM
esophageal apical cells: 50 nCPM
retinal pigment epithelial cells: 47 nCPM
melanocytes: 39 nCPM
colonocytes: 33 nCPM
esophageal basal cells: 32 nCPM

Immune cell

basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM
MAIT T-cell: 0 nTPM

Brain region

cerebral cortex: 43 nTPM
pons: 37 nTPM
white matter: 35 nTPM
midbrain: 32 nTPM
thalamus: 31 nTPM
medulla oblongata: 29 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about HR.

Disease | AllUniProt

Conditions HR is implicated in, by any mechanism.

Alopecia universalis congenita (ALUNC) MIM:203655
Atrichia with papular lesions (APL) MIM:209500
Hypotrichosis 4 (HYPT4) MIM:146550

Disease | GeneticClinVar

29 pathogenic / likely-pathogenic of 535 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Atrichia with papular lesions
Alopecia universalis congenita
HR-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.63
gnomAD pLI: 0
gnomAD missense Z: 0.67
DepMap mean gene effect: 0.15
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

regulation of transcription by RNA polymerase II

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads HR as an antibody target. Whether an autoantibody or antibody against HR could matter depends on whether native HR is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

HR is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label HR as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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