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Protein

Lysine-specific demethylase hairless

Gene

HR

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.1 Publication

Cofactori

Fe2+By similarityNote: Binds 1 Fe2+ ion per subunit.By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi1007Iron; catalyticPROSITE-ProRule annotation1
Metal bindingi1009Iron; catalyticPROSITE-ProRule annotation1
Metal bindingi1125Iron; catalyticPROSITE-ProRule annotation1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri600 – 625C6-typeAdd BLAST26

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDNA-binding, Oxidoreductase
Biological processTranscription, Transcription regulation
LigandIron, Metal-binding, Zinc

Enzyme and pathway databases

SIGNORiO43593

Names & Taxonomyi

Protein namesi
Recommended name:
Lysine-specific demethylase hairless (EC:1.14.11.-)
Gene namesi
Name:HR
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

EuPathDBiHostDB:ENSG00000168453.14
HGNCiHGNC:5172 HR
MIMi602302 gene
neXtProtiNX_O43593

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Alopecia universalis congenita (ALUNC)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare disorder characterized by loss of hair from the entire body. No hair are present in hair follicles on skin biopsy.
See also OMIM:203655
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0162221012D → N in ALUNC; affects binding to thyroid hormone receptor; Markedly diminished histone demethylase activity. 2 PublicationsCorresponds to variant dbSNP:rs121434451EnsemblClinVar.1
Natural variantiVAR_0052661022T → A in ALUNC. 1 PublicationCorresponds to variant dbSNP:rs7014851EnsemblClinVar.1
Natural variantiVAR_0052671136V → D in ALUNC. 1 PublicationCorresponds to variant dbSNP:rs121434448EnsemblClinVar.1
Atrichia with papular lesions (APL)
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disease characterized by papillary lesions over most of the body and almost complete absence of hair.
See also OMIM:209500
Hypotrichosis 4 (HYPT4)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:146550

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi1056V → M: Markedly diminishes histone demethylase activity. 1 Publication1

Keywords - Diseasei

Disease mutation, Hypotrichosis

Organism-specific databases

DisGeNETi55806
MalaCardsiHR
MIMi146550 phenotype
203655 phenotype
209500 phenotype
OpenTargetsiENSG00000168453
Orphaneti701 Alopecia universalis
86819 Atrichia with papular lesions
444 Marie Unna hereditary hypotrichosis
PharmGKBiPA29443

Polymorphism and mutation databases

BioMutaiHR

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000838901 – 1189Lysine-specific demethylase hairlessAdd BLAST1189

Proteomic databases

PaxDbiO43593
PeptideAtlasiO43593
PRIDEiO43593
ProteomicsDBi49067
49068 [O43593-2]

PTM databases

iPTMnetiO43593
PhosphoSitePlusiO43593

Expressioni

Tissue specificityi

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.2 Publications

Gene expression databases

BgeeiENSG00000168453 Expressed in 182 organ(s), highest expression level in skin of abdomen
CleanExiHS_HR
ExpressionAtlasiO43593 baseline and differential
GenevisibleiO43593 HS

Organism-specific databases

HPAiHPA054888

Interactioni

Protein-protein interaction databases

BioGridi120917, 12 interactors
ELMiO43593
IntActiO43593, 24 interactors
MINTiO43593
STRINGi9606.ENSP00000370826

Structurei

3D structure databases

ProteinModelPortaliO43593
SMRiO43593
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini946 – 1157JmjCPROSITE-ProRule annotationAdd BLAST212

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi566 – 570LXXLL motif 15
Motifi758 – 762LXXLL motif 25

Domaini

Contains two Leu-Xaa-Xaa-Leu-Leu (LXXLL) motifs. The LXXLL motifs are essential for the association with nuclear receptors (By similarity).By similarity
The JmjC domain and the C6-type zinc-finger are required for the demethylation activity.By similarity

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri600 – 625C6-typeAdd BLAST26

Keywords - Domaini

Zinc-finger

Phylogenomic databases

eggNOGiKOG1356 Eukaryota
ENOG410XTAA LUCA
GeneTreeiENSGT00530000063039
HOGENOMiHOG000293150
HOVERGENiHBG000171
InParanoidiO43593
KOiK00478
OMAiTVWHVFR
OrthoDBiEOG091G00RB
PhylomeDBiO43593
TreeFamiTF324723

Family and domain databases

InterProiView protein in InterPro
IPR003347 JmjC_dom
PfamiView protein in Pfam
PF02373 JmjC, 1 hit
SMARTiView protein in SMART
SM00558 JmjC, 1 hit
PROSITEiView protein in PROSITE
PS51184 JMJC, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket
Note: Additional isoforms seem to exist.

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: O43593-1) [UniParc]FASTAAdd to basket
Also known as: Long

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MESTPSFLKG TPTWEKTAPE NGIVRQEPGS PPRDGLHHGP LCLGEPAPFW
60 70 80 90 100
RGVLSTPDSW LPPGFPQGPK DMLPLVEGEG PQNGERKVNW LGSKEGLRWK
110 120 130 140 150
EAMLTHPLAF CGPACPPRCG PLMPEHSGGH LKSDPVAFRP WHCPFLLETK
160 170 180 190 200
ILERAPFWVP TCLPPYLVSG LPPEHPCDWP LTPHPWVYSG GQPKVPSAFS
210 220 230 240 250
LGSKGFYYKD PSIPRLAKEP LAAAEPGLFG LNSGGHLQRA GEAERPSLHQ
260 270 280 290 300
RDGEMGAGRQ QNPCPLFLGQ PDTVPWTSWP ACPPGLVHTL GNVWAGPGDG
310 320 330 340 350
NLGYQLGPPA TPRCPSPEPP VTQRGCCSSY PPTKGGGLGP CGKCQEGLEG
360 370 380 390 400
GASGASEPSE EVNKASGPRA CPPSHHTKLK KTWLTRHSEQ FECPRGCPEV
410 420 430 440 450
EERPVARLRA LKRAGSPEVQ GAMGSPAPKR PPDPFPGTAE QGAGGWQEVR
460 470 480 490 500
DTSIGNKDVD SGQHDEQKGP QDGQASLQDP GLQDIPCLAL PAKLAQCQSC
510 520 530 540 550
AQAAGEGGGH ACHSQQVRRS PLGGELQQEE DTATNSSSEE GPGSGPDSRL
560 570 580 590 600
STGLAKHLLS GLGDRLCRLL RREREALAWA QREGQGPAVT EDSPGIPRCC
610 620 630 640 650
SRCHHGLFNT HWRCPRCSHR LCVACGRVAG TGRAREKAGF QEQSAEECTQ
660 670 680 690 700
EAGHAACSLM LTQFVSSQAL AELSTAMHQV WVKFDIRGHC PCQADARVWA
710 720 730 740 750
PGDAGQQKES TQKTPPTPQP SCNGDTHRTK SIKEETPDSA ETPAEDRAGR
760 770 780 790 800
GPLPCPSLCE LLASTAVKLC LGHERIHMAF APVTPALPSD DRITNILDSI
810 820 830 840 850
IAQVVERKIQ EKALGPGLRA GPGLRKGLGL PLSPVRPRLP PPGALLWLQE
860 870 880 890 900
PQPCPRRGFH LFQEHWRQGQ PVLVSGIQRT LQGNLWGTEA LGALGGQVQA
910 920 930 940 950
LSPLGPPQPS SLGSTTFWEG FSWPELRPKS DEGSVLLLHR ALGDEDTSRV
960 970 980 990 1000
ENLAASLPLP EYCALHGKLN LASYLPPGLA LRPLEPQLWA AYGVSPHRGH
1010 1020 1030 1040 1050
LGTKNLCVEV ADLVSILVHA DTPLPAWHRA QKDFLSGLDG EGLWSPGSQV
1060 1070 1080 1090 1100
STVWHVFRAQ DAQRIRRFLQ MVCPAGAGAL EPGAPGSCYL DAGLRRRLRE
1110 1120 1130 1140 1150
EWGVSCWTLL QAPGEAVLVP AGAPHQVQGL VSTVSVTQHF LSPETSALSA
1160 1170 1180
QLCHQGPSLP PDCHLLYAQM DWAVFQAVKV AVGTLQEAK
Length:1,189
Mass (Da):127,495
Last modified:October 3, 2006 - v5
Checksum:i67A4B95A01063387
GO
Isoform 2 (identifier: O43593-2) [UniParc]FASTAAdd to basket
Also known as: Short

The sequence of this isoform differs from the canonical sequence as follows:
     1072-1126: Missing.

Show »
Length:1,134
Mass (Da):121,857
Checksum:i96A613EABEB9D412
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E5RK80E5RK80_HUMAN
Lysine-specific demethylase hairles...
HR
54Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_027806337G → D3 PublicationsCorresponds to variant dbSNP:rs12675375EnsemblClinVar.1
Natural variantiVAR_061664526L → P. Corresponds to variant dbSNP:rs56140348EnsemblClinVar.1
Natural variantiVAR_005265620R → Q2 PublicationsCorresponds to variant dbSNP:rs117197822EnsemblClinVar.1
Natural variantiVAR_035927633R → Q in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_027807924P → L. Corresponds to variant dbSNP:rs11990421Ensembl.1
Natural variantiVAR_0162221012D → N in ALUNC; affects binding to thyroid hormone receptor; Markedly diminished histone demethylase activity. 2 PublicationsCorresponds to variant dbSNP:rs121434451EnsemblClinVar.1
Natural variantiVAR_0052661022T → A in ALUNC. 1 PublicationCorresponds to variant dbSNP:rs7014851EnsemblClinVar.1
Natural variantiVAR_0052671136V → D in ALUNC. 1 PublicationCorresponds to variant dbSNP:rs121434448EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0042761072 – 1126Missing in isoform 2. 1 PublicationAdd BLAST55

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF039196 mRNA Translation: AAC32258.3
AJ277249
, AJ277250, AJ277251, AJ277252, AJ277253, AJ400825, AJ400826, AJ400827, AJ400828, AJ400829, AJ400830, AJ400831, AJ400832, AJ400833, AJ400834, AJ400835, AJ400836, AJ400837 Genomic DNA Translation: CAB87577.2
AJ277165 mRNA Translation: CAB86602.1
BC067128 mRNA Translation: AAH67128.1
CCDSiCCDS6022.1 [O43593-1]
CCDS6023.1 [O43593-2]
RefSeqiNP_005135.2, NM_005144.4 [O43593-1]
NP_060881.2, NM_018411.4 [O43593-2]
UniGeneiHs.272367

Genome annotation databases

EnsembliENST00000312841; ENSP00000326765; ENSG00000168453 [O43593-2]
ENST00000381418; ENSP00000370826; ENSG00000168453 [O43593-1]
GeneIDi55806
KEGGihsa:55806
UCSCiuc003xas.4 human [O43593-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF039196 mRNA Translation: AAC32258.3
AJ277249
, AJ277250, AJ277251, AJ277252, AJ277253, AJ400825, AJ400826, AJ400827, AJ400828, AJ400829, AJ400830, AJ400831, AJ400832, AJ400833, AJ400834, AJ400835, AJ400836, AJ400837 Genomic DNA Translation: CAB87577.2
AJ277165 mRNA Translation: CAB86602.1
BC067128 mRNA Translation: AAH67128.1
CCDSiCCDS6022.1 [O43593-1]
CCDS6023.1 [O43593-2]
RefSeqiNP_005135.2, NM_005144.4 [O43593-1]
NP_060881.2, NM_018411.4 [O43593-2]
UniGeneiHs.272367

3D structure databases

ProteinModelPortaliO43593
SMRiO43593
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120917, 12 interactors
ELMiO43593
IntActiO43593, 24 interactors
MINTiO43593
STRINGi9606.ENSP00000370826

PTM databases

iPTMnetiO43593
PhosphoSitePlusiO43593

Polymorphism and mutation databases

BioMutaiHR

Proteomic databases

PaxDbiO43593
PeptideAtlasiO43593
PRIDEiO43593
ProteomicsDBi49067
49068 [O43593-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000312841; ENSP00000326765; ENSG00000168453 [O43593-2]
ENST00000381418; ENSP00000370826; ENSG00000168453 [O43593-1]
GeneIDi55806
KEGGihsa:55806
UCSCiuc003xas.4 human [O43593-1]

Organism-specific databases

CTDi55806
DisGeNETi55806
EuPathDBiHostDB:ENSG00000168453.14
GeneCardsiHR
HGNCiHGNC:5172 HR
HPAiHPA054888
MalaCardsiHR
MIMi146550 phenotype
203655 phenotype
209500 phenotype
602302 gene
neXtProtiNX_O43593
OpenTargetsiENSG00000168453
Orphaneti701 Alopecia universalis
86819 Atrichia with papular lesions
444 Marie Unna hereditary hypotrichosis
PharmGKBiPA29443
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1356 Eukaryota
ENOG410XTAA LUCA
GeneTreeiENSGT00530000063039
HOGENOMiHOG000293150
HOVERGENiHBG000171
InParanoidiO43593
KOiK00478
OMAiTVWHVFR
OrthoDBiEOG091G00RB
PhylomeDBiO43593
TreeFamiTF324723

Enzyme and pathway databases

SIGNORiO43593

Miscellaneous databases

GeneWikiiHR_(gene)
GenomeRNAii55806
PROiPR:O43593
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000168453 Expressed in 182 organ(s), highest expression level in skin of abdomen
CleanExiHS_HR
ExpressionAtlasiO43593 baseline and differential
GenevisibleiO43593 HS

Family and domain databases

InterProiView protein in InterPro
IPR003347 JmjC_dom
PfamiView protein in Pfam
PF02373 JmjC, 1 hit
SMARTiView protein in SMART
SM00558 JmjC, 1 hit
PROSITEiView protein in PROSITE
PS51184 JMJC, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiHAIR_HUMAN
AccessioniPrimary (citable) accession number: O43593
Secondary accession number(s): Q6GS30, Q96H33, Q9NPE1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: October 3, 2006
Last modified: September 12, 2018
This is version 157 of the entry and version 5 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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