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O43593 (HAIR_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 120. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Protein hairless
Gene names
Name:HR
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1189 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May act as a transcription regulator controlling one of the phases of hair growth.

Subcellular location

Nucleus.

Tissue specificity

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. Ref.2 Ref.4

Domain

Contains two Leu-Xaa-Xaa-Leu-Leu (LXXLL) motifs. The LXXLL motifs are essential for the association with nuclear receptors By similarity.

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.4 Ref.9

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6

Sequence similarities

Contains 1 JmjC domain.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Note: Additional isoforms seem to exist.
Isoform 1 (identifier: O43593-1)

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.
Isoform 2 (identifier: O43593-2)

Also known as: Short;

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 11891189Protein hairless
PRO_0000083890

Regions

Domain946 – 1157212JmjC
Zinc finger600 – 62526C6-type
Motif566 – 5705LXXLL motif 1
Motif758 – 7625LXXLL motif 2

Natural variations

Alternative sequence1072 – 112655Missing in isoform 2.
VSP_004276
Natural variant3371G → D. Ref.1 Ref.2 Ref.4
Corresponds to variant rs12675375 [ dbSNP | Ensembl ].
VAR_027806
Natural variant5261L → P.
Corresponds to variant rs56140348 [ dbSNP | Ensembl ].
VAR_061664
Natural variant6201R → Q. Ref.7 Ref.8
Corresponds to variant rs117197822 [ dbSNP | Ensembl ].
VAR_005265
Natural variant6331R → Q in a colorectal cancer sample; somatic mutation. Ref.10
VAR_035927
Natural variant9241P → L.
Corresponds to variant rs11990421 [ dbSNP | Ensembl ].
VAR_027807
Natural variant10121D → N in ALUNC; affects binding to thyroid hormone receptor. Ref.9
VAR_016222
Natural variant10221T → A in ALUNC. Ref.1
Corresponds to variant rs7014851 [ dbSNP | Ensembl ].
VAR_005266
Natural variant11361V → D in ALUNC. Ref.4
VAR_005267

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (Long) [UniParc].

Last modified October 3, 2006. Version 5.
Checksum: 67A4B95A01063387

FASTA1,189127,495
        10         20         30         40         50         60 
MESTPSFLKG TPTWEKTAPE NGIVRQEPGS PPRDGLHHGP LCLGEPAPFW RGVLSTPDSW 

        70         80         90        100        110        120 
LPPGFPQGPK DMLPLVEGEG PQNGERKVNW LGSKEGLRWK EAMLTHPLAF CGPACPPRCG 

       130        140        150        160        170        180 
PLMPEHSGGH LKSDPVAFRP WHCPFLLETK ILERAPFWVP TCLPPYLVSG LPPEHPCDWP 

       190        200        210        220        230        240 
LTPHPWVYSG GQPKVPSAFS LGSKGFYYKD PSIPRLAKEP LAAAEPGLFG LNSGGHLQRA 

       250        260        270        280        290        300 
GEAERPSLHQ RDGEMGAGRQ QNPCPLFLGQ PDTVPWTSWP ACPPGLVHTL GNVWAGPGDG 

       310        320        330        340        350        360 
NLGYQLGPPA TPRCPSPEPP VTQRGCCSSY PPTKGGGLGP CGKCQEGLEG GASGASEPSE 

       370        380        390        400        410        420 
EVNKASGPRA CPPSHHTKLK KTWLTRHSEQ FECPRGCPEV EERPVARLRA LKRAGSPEVQ 

       430        440        450        460        470        480 
GAMGSPAPKR PPDPFPGTAE QGAGGWQEVR DTSIGNKDVD SGQHDEQKGP QDGQASLQDP 

       490        500        510        520        530        540 
GLQDIPCLAL PAKLAQCQSC AQAAGEGGGH ACHSQQVRRS PLGGELQQEE DTATNSSSEE 

       550        560        570        580        590        600 
GPGSGPDSRL STGLAKHLLS GLGDRLCRLL RREREALAWA QREGQGPAVT EDSPGIPRCC 

       610        620        630        640        650        660 
SRCHHGLFNT HWRCPRCSHR LCVACGRVAG TGRAREKAGF QEQSAEECTQ EAGHAACSLM 

       670        680        690        700        710        720 
LTQFVSSQAL AELSTAMHQV WVKFDIRGHC PCQADARVWA PGDAGQQKES TQKTPPTPQP 

       730        740        750        760        770        780 
SCNGDTHRTK SIKEETPDSA ETPAEDRAGR GPLPCPSLCE LLASTAVKLC LGHERIHMAF 

       790        800        810        820        830        840 
APVTPALPSD DRITNILDSI IAQVVERKIQ EKALGPGLRA GPGLRKGLGL PLSPVRPRLP 

       850        860        870        880        890        900 
PPGALLWLQE PQPCPRRGFH LFQEHWRQGQ PVLVSGIQRT LQGNLWGTEA LGALGGQVQA 

       910        920        930        940        950        960 
LSPLGPPQPS SLGSTTFWEG FSWPELRPKS DEGSVLLLHR ALGDEDTSRV ENLAASLPLP 

       970        980        990       1000       1010       1020 
EYCALHGKLN LASYLPPGLA LRPLEPQLWA AYGVSPHRGH LGTKNLCVEV ADLVSILVHA 

      1030       1040       1050       1060       1070       1080 
DTPLPAWHRA QKDFLSGLDG EGLWSPGSQV STVWHVFRAQ DAQRIRRFLQ MVCPAGAGAL 

      1090       1100       1110       1120       1130       1140 
EPGAPGSCYL DAGLRRRLRE EWGVSCWTLL QAPGEAVLVP AGAPHQVQGL VSTVSVTQHF 

      1150       1160       1170       1180 
LSPETSALSA QLCHQGPSLP PDCHLLYAQM DWAVFQAVKV AVGTLQEAK 

« Hide

Isoform 2 (Short) [UniParc].

Checksum: 96A613EABEB9D412
Show »

FASTA1,134121,857

References

« Hide 'large scale' references
[1]"Alopecia universalis associated with a mutation in the human hairless gene."
Ahmad W., ul Haque M.F., Brancolini V., Tsou H.C., Ul Haque S., Lam H., Aita V.M., Owen J., Deblaquiere M., Frank J., Cserhalmi-Friedman P.B., Leask A., McGrath J.A., Peacocke M., Ahmad M., Ott J., Christiano A.M.
Science 279:720-724(1998) [PubMed] [Europe PMC] [Abstract]
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]"Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis."
Wen Y., Liu Y., Xu Y., Zhao Y., Hua R., Wang K., Sun M., Li Y., Yang S., Zhang X.J., Kruse R., Cichon S., Betz R.C., Nothen M.M., van Steensel M.A., van Geel M., Steijlen P.M., Hohl D. expand/collapse author list , Huber M., Dunnill G.S., Kennedy C., Messenger A., Munro C.S., Terrinoni A., Hovnanian A., Bodemer C., de Prost Y., Paller A.S., Irvine A.D., Sinclair R., Green J., Shang D., Liu Q., Luo Y., Jiang L., Chen H.D., Lo W.H., McLean W.H., He C.D., Zhang X.
Nat. Genet. 41:228-233(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN HYPT4.
[7]"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.
[8]"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.
[9]"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.
[10]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] GLN-633.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF039196 mRNA. Translation: AAC32258.3.
AJ277249 expand/collapse EMBL AC list , 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.
RefSeqNP_005135.2. NM_005144.4.
NP_060881.2. NM_018411.4.
UniGeneHs.272367.

3D structure databases

ProteinModelPortalO43593.
SMRO43593. Positions 845-1155.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid120917. 10 interactions.
IntActO43593. 1 interaction.
MINTMINT-269712.
STRING9606.ENSP00000370826.

PTM databases

PhosphoSiteO43593.

Proteomic databases

PaxDbO43593.
PRIDEO43593.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000312841; ENSP00000326765; ENSG00000168453. [O43593-2]
ENST00000381418; ENSP00000370826; ENSG00000168453. [O43593-1]
GeneID55806.
KEGGhsa:55806.
UCSCuc003xas.3. human. [O43593-1]
uc003xat.3. human. [O43593-2]

Organism-specific databases

CTD55806.
GeneCardsGC08M022028.
HGNCHGNC:5172. HR.
MIM146550. phenotype.
203655. phenotype.
209500. phenotype.
602302. gene.
neXtProtNX_O43593.
Orphanet701. Alopecia universalis.
86819. Atrichia with papular lesions.
444. Marie Unna hereditary hypotrichosis.
PharmGKBPA29443.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG243648.
HOGENOMHOG000293150.
HOVERGENHBG000171.
InParanoidO43593.
OMASTAVKLC.
OrthoDBEOG7PZRWJ.
PhylomeDBO43593.
TreeFamTF324723.

Gene expression databases

ArrayExpressO43593.
BgeeO43593.
CleanExHS_HR.
GenevestigatorO43593.

Family and domain databases

InterProIPR003347. JmjC_dom.
[Graphical view]
PfamPF02373. JmjC. 1 hit.
[Graphical view]
SMARTSM00558. JmjC. 1 hit.
[Graphical view]
PROSITEPS51184. JMJC. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiHR_(gene).
GenomeRNAi55806.
NextBio60959.
PROO43593.
SOURCESearch...

Entry information

Entry nameHAIR_HUMAN
AccessionPrimary (citable) accession number: O43593
Secondary accession number(s): Q6GS30, Q96H33, Q9NPE1
Entry history
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: October 3, 2006
Last modified: April 16, 2014
This is version 120 of the entry and version 5 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 8

Human chromosome 8: entries, gene names and cross-references to MIM