Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Lysine-specific demethylase hairless

Gene

HR

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

Complete GO annotation...

Keywords - Molecular functioni

Oxidoreductase

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding, Iron, Metal-binding, Zinc

Enzyme and pathway databases

BioCyciZFISH:ENSG00000168453-MONOMER.

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

HGNCiHGNC:5172. HR.

Subcellular locationi

GO - Cellular componenti

  • chromatin Source: GO_Central
  • nuclear body Source: Ensembl
  • nucleoplasm Source: HPA
  • nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Alopecia universalis congenita (ALUNC)3 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 rs121434451dbSNPEnsembl.1
Natural variantiVAR_0052661022T → A in ALUNC. 1 PublicationCorresponds to variant rs7014851dbSNPEnsembl.1
Natural variantiVAR_0052671136V → D in ALUNC. 1 PublicationCorresponds to variant rs121434448dbSNPEnsembl.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.

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.
CleanExiHS_HR.
ExpressionAtlasiO43593. baseline and differential.
GenevisibleiO43593. HS.

Organism-specific databases

HPAiHPA054888.

Interactioni

Protein-protein interaction databases

BioGridi120917. 10 interactors.
IntActiO43593. 3 interactors.
MINTiMINT-269712.
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

Sequence similaritiesi

Contains 1 JmjC domain.PROSITE-ProRule annotation

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.
OMAiLFQEHWR.
OrthoDBiEOG091G00RB.
PhylomeDBiO43593.
TreeFamiTF324723.

Family and domain databases

InterProiIPR003347. JmjC_dom.
[Graphical view]
PfamiPF02373. JmjC. 1 hit.
[Graphical view]
SMARTiSM00558. JmjC. 1 hit.
[Graphical view]
PROSITEiPS51184. JMJC. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Note: Additional isoforms seem to exist.
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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_027806337G → D.3 PublicationsCorresponds to variant rs12675375dbSNPEnsembl.1
Natural variantiVAR_061664526L → P.Corresponds to variant rs56140348dbSNPEnsembl.1
Natural variantiVAR_005265620R → Q.2 PublicationsCorresponds to variant rs117197822dbSNPEnsembl.1
Natural variantiVAR_035927633R → Q in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_027807924P → L.Corresponds to variant rs11990421dbSNPEnsembl.1
Natural variantiVAR_0162221012D → N in ALUNC; affects binding to thyroid hormone receptor; Markedly diminished histone demethylase activity. 2 PublicationsCorresponds to variant rs121434451dbSNPEnsembl.1
Natural variantiVAR_0052661022T → A in ALUNC. 1 PublicationCorresponds to variant rs7014851dbSNPEnsembl.1
Natural variantiVAR_0052671136V → D in ALUNC. 1 PublicationCorresponds to variant rs121434448dbSNPEnsembl.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

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. 10 interactors.
IntActiO43593. 3 interactors.
MINTiMINT-269712.
STRINGi9606.ENSP00000370826.

PTM databases

iPTMnetiO43593.
PhosphoSitePlusiO43593.

Polymorphism and mutation databases

BioMutaiHR.

Proteomic databases

PaxDbiO43593.
PeptideAtlasiO43593.
PRIDEiO43593.

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.
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.
OMAiLFQEHWR.
OrthoDBiEOG091G00RB.
PhylomeDBiO43593.
TreeFamiTF324723.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000168453-MONOMER.

Miscellaneous databases

GeneWikiiHR_(gene).
GenomeRNAii55806.
PROiO43593.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000168453.
CleanExiHS_HR.
ExpressionAtlasiO43593. baseline and differential.
GenevisibleiO43593. HS.

Family and domain databases

InterProiIPR003347. JmjC_dom.
[Graphical view]
PfamiPF02373. JmjC. 1 hit.
[Graphical view]
SMARTiSM00558. JmjC. 1 hit.
[Graphical view]
PROSITEiPS51184. JMJC. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiHAIR_HUMAN
AccessioniPrimary (citable) accession number: O43593
Secondary accession number(s): Q6GS30, Q96H33, Q9NPE1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: October 3, 2006
Last modified: November 30, 2016
This is version 144 of the entry and version 5 of the sequence. [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
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.