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O43593

- HAIR_HUMAN

UniProt

O43593 - HAIR_HUMAN

Protein

Lysine-specific demethylase hairless

Gene

HR

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 124 (01 Oct 2014)
      Sequence version 5 (03 Oct 2006)
      Previous versions | rss
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    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

    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

    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.1 Publication
    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

    ArrayExpressiO43593.
    BgeeiO43593.
    CleanExiHS_HR.
    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.
    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

    MESTPSFLKG TPTWEKTAPE NGIVRQEPGS PPRDGLHHGP LCLGEPAPFW     50
    RGVLSTPDSW LPPGFPQGPK DMLPLVEGEG PQNGERKVNW LGSKEGLRWK 100
    EAMLTHPLAF CGPACPPRCG PLMPEHSGGH LKSDPVAFRP WHCPFLLETK 150
    ILERAPFWVP TCLPPYLVSG LPPEHPCDWP LTPHPWVYSG GQPKVPSAFS 200
    LGSKGFYYKD PSIPRLAKEP LAAAEPGLFG LNSGGHLQRA GEAERPSLHQ 250
    RDGEMGAGRQ QNPCPLFLGQ PDTVPWTSWP ACPPGLVHTL GNVWAGPGDG 300
    NLGYQLGPPA TPRCPSPEPP VTQRGCCSSY PPTKGGGLGP CGKCQEGLEG 350
    GASGASEPSE EVNKASGPRA CPPSHHTKLK KTWLTRHSEQ FECPRGCPEV 400
    EERPVARLRA LKRAGSPEVQ GAMGSPAPKR PPDPFPGTAE QGAGGWQEVR 450
    DTSIGNKDVD SGQHDEQKGP QDGQASLQDP GLQDIPCLAL PAKLAQCQSC 500
    AQAAGEGGGH ACHSQQVRRS PLGGELQQEE DTATNSSSEE GPGSGPDSRL 550
    STGLAKHLLS GLGDRLCRLL RREREALAWA QREGQGPAVT EDSPGIPRCC 600
    SRCHHGLFNT HWRCPRCSHR LCVACGRVAG TGRAREKAGF QEQSAEECTQ 650
    EAGHAACSLM LTQFVSSQAL AELSTAMHQV WVKFDIRGHC PCQADARVWA 700
    PGDAGQQKES TQKTPPTPQP SCNGDTHRTK SIKEETPDSA ETPAEDRAGR 750
    GPLPCPSLCE LLASTAVKLC LGHERIHMAF APVTPALPSD DRITNILDSI 800
    IAQVVERKIQ EKALGPGLRA GPGLRKGLGL PLSPVRPRLP PPGALLWLQE 850
    PQPCPRRGFH LFQEHWRQGQ PVLVSGIQRT LQGNLWGTEA LGALGGQVQA 900
    LSPLGPPQPS SLGSTTFWEG FSWPELRPKS DEGSVLLLHR ALGDEDTSRV 950
    ENLAASLPLP EYCALHGKLN LASYLPPGLA LRPLEPQLWA AYGVSPHRGH 1000
    LGTKNLCVEV ADLVSILVHA DTPLPAWHRA QKDFLSGLDG EGLWSPGSQV 1050
    STVWHVFRAQ DAQRIRRFLQ MVCPAGAGAL EPGAPGSCYL DAGLRRRLRE 1100
    EWGVSCWTLL QAPGEAVLVP AGAPHQVQGL VSTVSVTQHF LSPETSALSA 1150
    QLCHQGPSLP PDCHLLYAQM DWAVFQAVKV AVGTLQEAK 1189
    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 GC08M022028.
    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.
    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

    ArrayExpressi O43593.
    Bgeei O43593.
    CleanExi HS_HR.
    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

    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.

    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 1, 2014
    This is version 124 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