O43593 (HAIR_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Protein hairless

Gene names

Name:

HR

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1189 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	May act as a transcription factor that could act on to regulate 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
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.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation Hypotrichosis
Domain	Zinc-finger
Ligand	DNA-binding Metal-binding Zinc
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	negative regulation of transcription, DNA-dependent Inferred from electronic annotation. Source: Compara transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	nuclear body Inferred from electronic annotation. Source: Compara nucleus Non-traceable author statement Ref.1. Source: UniProtKB
Molecular_function	DNA binding Non-traceable author statement Ref.1. Source: UniProtKB metal ion binding Inferred from electronic annotation. Source: UniProtKB-KW sequence-specific DNA binding transcription factor activity Non-traceable author statement Ref.1. Source: UniProtKB transcription corepressor activity Inferred from electronic annotation. Source: Compara
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1189	1189	Protein hairless		PRO_0000083890
Regions
	Domain	946 – 1157	212	JmjC
	Zinc finger	600 – 625	26	C6-type
Natural variations
	Alternative sequence	1072 – 1126	55	Missing in isoform 2.		VSP_004276
	Natural variant	337	1	G → D. Ref.1 Ref.2 Ref.4 Corresponds to variant rs12675375 [ dbSNP | Ensembl ].		VAR_027806
	Natural variant	526	1	L → P. Corresponds to variant rs56140348 [ dbSNP | Ensembl ].		VAR_061664
	Natural variant	620	1	R → Q. Ref.7 Ref.8		VAR_005265
	Natural variant	633	1	R → Q in a colorectal cancer sample; somatic mutation. Ref.10		VAR_035927
	Natural variant	924	1	P → L. Corresponds to variant rs11990421 [ dbSNP | Ensembl ].		VAR_027807
	Natural variant	1012	1	D → N in ALUNC; affects binding to thyroid hormone receptor. Ref.9		VAR_016222
	Natural variant	1022	1	T → A in ALUNC. Ref.1 Corresponds to variant rs7014851 [ dbSNP | Ensembl ].		VAR_005266
	Natural variant	1136	1	V → D in ALUNC. Ref.4		VAR_005267

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (Long) [UniParc]. Last modified October 3, 2006. Version 5. Checksum: 67A4B95A01063387	FASTA	1,189	127,495
	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
	Isoform 2 (Short) [UniParc]. Checksum: 96A613EABEB9D412	FASTA	1,134	121,857
	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 MVQGLVSTVS 1090 1100 1110 1120 1130 VTQHFLSPET SALSAQLCHQ GPSLPPDCHL LYAQMDWAVF QAVKVAVGTL QEAK

References

	« Hide 'large scale' referencesShow '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. , 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. , 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

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00216544. IPI00292057.
RefSeq	NP_005135.2. NM_005144.4. NP_060881.2. NM_018411.4.
UniGene	Hs.272367.
3D structure databases
ProteinModelPortal	O43593.
ModBase	Search...
Protein-protein interaction databases
IntAct	O43593. 1 interaction.
MINT	MINT-269712.
STRING	9606.ENSP00000370826.
PTM databases
PhosphoSite	O43593.
Proteomic databases
PaxDb	O43593.
PRIDE	O43593.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000312841; ENSP00000326765; ENSG00000168453. ENST00000381418; ENSP00000370826; ENSG00000168453.
GeneID	55806.
KEGG	hsa:55806.
UCSC	uc003xas.3. human. uc003xat.3. human.
Organism-specific databases
CTD	55806.
GeneCards	GC08M022028.
HGNC	HGNC:5172. HR.
MIM	146550. phenotype. 203655. phenotype. 209500. phenotype. 602302. gene.
neXtProt	NX_O43593.
Orphanet	701. Alopecia universalis. 86819. Atrichia with papular lesions. 444. Marie Unna congenital hypotrichosis.
PharmGKB	PA29443.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG243648.
HOGENOM	HOG000293150.
HOVERGEN	HBG000171.
InParanoid	O43593.
OMA	LERAPFW.
OrthoDB	EOG4DBTCW.
PhylomeDB	O43593.
Gene expression databases
ArrayExpress	O43593.
Bgee	O43593.
CleanEx	HS_HR.
Genevestigator	O43593.
GermOnline	ENSG00000168453. Homo sapiens.
Family and domain databases
InterPro	IPR003347. JmjC_dom. [Graphical view]
Pfam	PF02373. JmjC. 1 hit. [Graphical view]
SMART	SM00558. JmjC. 1 hit. [Graphical view]
PROSITE	PS51184. JMJC. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	55806.
NextBio	60959.
SOURCE	Search...

Entry information

Entry name

HAIR_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 111 of the entry and version 5 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.