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O43593

- HAIR_HUMAN

UniProt

O43593 - HAIR_HUMAN

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Protein

Lysine-specific demethylase hairless

Gene

HR

Organism
Homo sapiens (Human)
Status
Reviewed - 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

Binds 1 Fe2+ ion per subunit.By similarity

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi1007 – 10071Iron; catalyticPROSITE-ProRule annotation
Metal bindingi1009 – 10091Iron; catalyticPROSITE-ProRule annotation
Metal bindingi1125 – 11251Iron; catalyticPROSITE-ProRule annotation

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri600 – 62526C6-typeAdd
BLAST

GO - Molecular functioni

  1. DNA binding Source: UniProtKB
  2. metal ion binding Source: UniProtKB-KW
  3. oxidoreductase activity Source: UniProtKB-KW
  4. sequence-specific DNA binding transcription factor activity Source: UniProtKB
  5. transcription corepressor activity Source: Ensembl

GO - Biological processi

  1. negative regulation of transcription, DNA-templated Source: Ensembl
  2. regulation of transcription, DNA-templated Source: UniProtKB
  3. transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Oxidoreductase

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding, Iron, Metal-binding, Zinc

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
ProteomesiUP000005640: Chromosome 8

Organism-specific databases

HGNCiHGNC:5172. HR.

Subcellular locationi

GO - Cellular componenti

  1. nuclear body Source: Ensembl
  2. nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

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.3 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti1012 – 10121D → N in ALUNC; affects binding to thyroid hormone receptor; Markedly diminished histone demethylase activity. 1 Publication
VAR_016222
Natural varianti1022 – 10221T → A in ALUNC. 1 Publication
Corresponds to variant rs7014851 [ dbSNP | Ensembl ].
VAR_005266
Natural varianti1136 – 11361V → D in ALUNC. 1 Publication
VAR_005267
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.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi1056 – 10561V → M: Markedly diminishes histone demethylase activity. 1 Publication

Keywords - Diseasei

Disease mutation, Hypotrichosis

Organism-specific databases

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 11891189Lysine-specific demethylase hairlessPRO_0000083890Add
BLAST

Proteomic databases

PaxDbiO43593.
PRIDEiO43593.

PTM databases

PhosphoSiteiO43593.

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

BgeeiO43593.
CleanExiHS_HR.
ExpressionAtlasiO43593. baseline and differential.
GenevestigatoriO43593.

Interactioni

Protein-protein interaction databases

BioGridi120917. 10 interactions.
IntActiO43593. 1 interaction.
MINTiMINT-269712.
STRINGi9606.ENSP00000370826.

Structurei

3D structure databases

ProteinModelPortaliO43593.
SMRiO43593. Positions 845-1155.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini946 – 1157212JmjCPROSITE-ProRule annotationAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi566 – 5705LXXLL motif 1
Motifi758 – 7625LXXLL motif 2

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)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri600 – 62526C6-typeAdd
BLAST

Keywords - Domaini

Zinc-finger

Phylogenomic databases

eggNOGiNOG243648.
GeneTreeiENSGT00530000063039.
HOGENOMiHOG000293150.
HOVERGENiHBG000171.
InParanoidiO43593.
OMAiSTAVKLC.
OrthoDBiEOG7PZRWJ.
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. Align

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti337 – 3371G → D.3 Publications
Corresponds to variant rs12675375 [ dbSNP | Ensembl ].
VAR_027806
Natural varianti526 – 5261L → P.
Corresponds to variant rs56140348 [ dbSNP | Ensembl ].
VAR_061664
Natural varianti620 – 6201R → Q.2 Publications
Corresponds to variant rs117197822 [ dbSNP | Ensembl ].
VAR_005265
Natural varianti633 – 6331R → Q in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_035927
Natural varianti924 – 9241P → L.
Corresponds to variant rs11990421 [ dbSNP | Ensembl ].
VAR_027807
Natural varianti1012 – 10121D → N in ALUNC; affects binding to thyroid hormone receptor; Markedly diminished histone demethylase activity. 1 Publication
VAR_016222
Natural varianti1022 – 10221T → A in ALUNC. 1 Publication
Corresponds to variant rs7014851 [ dbSNP | Ensembl ].
VAR_005266
Natural varianti1136 – 11361V → D in ALUNC. 1 Publication
VAR_005267

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1072 – 112655Missing in isoform 2. 1 PublicationVSP_004276Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.3. human. [O43593-1]
uc003xat.3. human. [O43593-2]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS6022.1. [O43593-1 ]
CCDS6023.1. [O43593-2 ]
RefSeqi NP_005135.2. NM_005144.4. [O43593-1 ]
NP_060881.2. NM_018411.4. [O43593-2 ]
UniGenei Hs.272367.

3D structure databases

ProteinModelPortali O43593.
SMRi O43593. Positions 845-1155.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 120917. 10 interactions.
IntActi O43593. 1 interaction.
MINTi MINT-269712.
STRINGi 9606.ENSP00000370826.

PTM databases

PhosphoSitei O43593.

Proteomic databases

PaxDbi O43593.
PRIDEi O43593.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000312841 ; ENSP00000326765 ; ENSG00000168453 . [O43593-2 ]
ENST00000381418 ; ENSP00000370826 ; ENSG00000168453 . [O43593-1 ]
GeneIDi 55806.
KEGGi hsa:55806.
UCSCi uc003xas.3. human. [O43593-1 ]
uc003xat.3. human. [O43593-2 ]

Organism-specific databases

CTDi 55806.
GeneCardsi GC08M021971.
HGNCi HGNC:5172. HR.
MIMi 146550. phenotype.
203655. phenotype.
209500. phenotype.
602302. gene.
neXtProti NX_O43593.
Orphaneti 701. Alopecia universalis.
86819. Atrichia with papular lesions.
444. Marie Unna hereditary hypotrichosis.
PharmGKBi PA29443.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG243648.
GeneTreei ENSGT00530000063039.
HOGENOMi HOG000293150.
HOVERGENi HBG000171.
InParanoidi O43593.
OMAi STAVKLC.
OrthoDBi EOG7PZRWJ.
PhylomeDBi O43593.
TreeFami TF324723.

Miscellaneous databases

GeneWikii HR_(gene).
GenomeRNAii 55806.
NextBioi 60959.
PROi O43593.
SOURCEi Search...

Gene expression databases

Bgeei O43593.
CleanExi HS_HR.
ExpressionAtlasi O43593. baseline and differential.
Genevestigatori O43593.

Family and domain databases

InterProi IPR003347. JmjC_dom.
[Graphical view ]
Pfami PF02373. JmjC. 1 hit.
[Graphical view ]
SMARTi SM00558. JmjC. 1 hit.
[Graphical view ]
PROSITEi PS51184. JMJC. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT ASP-337, VARIANT ALUNC ALA-1022.
  2. "Genomic organization of the human hairless gene (HR) and identification of a mutation underlying congenital atrichia in an Arab Palestinian family."
    Ahmad W., Zlotogorski A., Panteleyev A.A., Lam H., Ahmad M., ul Haque M.F., Abdallah H.M., Dragan L., Christiano A.M.
    Genomics 56:141-148(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), SEQUENCE REVISION TO 572 AND 774, TISSUE SPECIFICITY, VARIANT ASP-337.
    Tissue: Peripheral blood leukocyte and Skin fibroblast.
  3. Christiano A.M.
    Submitted (APR-2002) to the EMBL/GenBank/DDBJ databases
    Cited for: SEQUENCE REVISION TO 446 AND 584.
  4. "Cloning, genomic organization, alternative transcripts and mutational analysis of the gene responsible for autosomal recessive universal congenital alopecia."
    Cichon S., Anker M., Vogt I.R., Rohleder H., Putzstuck M., Hillmer A., Farooq S.A., Al-Dhafri K.S., Ahmad M., Haque S., Rietschel M., Propping P., Kruse R., Noethen M.M.
    Hum. Mol. Genet. 7:1671-1679(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1 AND 2), VARIANT ASP-337, VARIANT ALUNC ASP-1136, TISSUE SPECIFICITY.
    Tissue: Brain, Fetal brain and Peripheral blood leukocyte.
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Eye.
  6. Cited for: INVOLVEMENT IN HYPT4.
  7. Cited for: FUNCTION, CATALYTIC ACTIVITY, CHARACTERIZATION OF VARIANT ALUNC ASN-1012, MUTAGENESIS OF VAL-1056.
  8. "A missense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia in a family of Irish travellers."
    Ahmad W., Irvine A.D., Lam H., Buckley C., Bingham E.A., Panteleyev A.A., Ahmad M., McGrath J.A., Christiano A.M.
    Am. J. Hum. Genet. 63:984-991(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT GLN-620.
  9. "Variant 1859G-->A (Arg620Gln) of the 'hairless' gene: absence of association with papular atrichia or androgenic alopecia."
    Hillmer A.M., Kruse R., Betz R.C., Schumacher J., Heyn U., Propping P., Noethen M.M., Cichon S.
    Am. J. Hum. Genet. 69:235-237(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT GLN-620.
  10. "A novel missense mutation affecting the human hairless thyroid receptor interacting domain 2 causes congenital atrichia."
    Klein I., Bergman R., Indelman M., Sprecher E.
    J. Invest. Dermatol. 119:920-922(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ALUNC ASN-1012.
  11. Cited for: VARIANT [LARGE SCALE ANALYSIS] GLN-633.
  12. "Identification of a novel U2HR mutation in a Korean woman with Marie Unna hereditary hypotrichosis."
    Yun S.K., Cho Y.G., Song K.H., Hwang S.R., Kim Yoon S.J., Choi K.W., Kim H.U., Park J.
    Int. J. Dermatol. 0:0-0(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN HYPT4.

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: October 29, 2014
This is version 125 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

External Data

Dasty 3