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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>This subsection of the ‘Function’ section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Fe2+By similarityNote: Binds 1 Fe2+ ion per subunit.By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi1007Iron; catalyticPROSITE-ProRule annotation1
Metal bindingi1009Iron; catalyticPROSITE-ProRule annotation1
Metal bindingi1125Iron; catalyticPROSITE-ProRule annotation1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri600 – 625C6-typeAdd BLAST26

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDNA-binding, Oxidoreductase
Biological processTranscription, Transcription regulation
LigandIron, Metal-binding, Zinc

Enzyme and pathway databases

SIGNOR Signaling Network Open Resource

More...
SIGNORi
O43593

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Lysine-specific demethylase hairless (EC:1.14.11.-)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:HR
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 8

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000168453.14

Human Gene Nomenclature Database

More...
HGNCi
HGNC:5172 HR

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
602302 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O43593

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Alopecia universalis congenita (ALUNC)4 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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_0162221012D → N in ALUNC; affects binding to thyroid hormone receptor; Markedly diminished histone demethylase activity. 2 PublicationsCorresponds to variant dbSNP:rs121434451EnsemblClinVar.1
Natural variantiVAR_0052661022T → A in ALUNC. 1 PublicationCorresponds to variant dbSNP:rs7014851EnsemblClinVar.1
Natural variantiVAR_0052671136V → D in ALUNC. 1 PublicationCorresponds to variant dbSNP:rs121434448EnsemblClinVar.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
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi1056V → M: Markedly diminishes histone demethylase activity. 1 Publication1

Keywords - Diseasei

Disease mutation, Hypotrichosis

Organism-specific databases

DisGeNET

More...
DisGeNETi
55806

MalaCards human disease database

More...
MalaCardsi
HR
MIMi146550 phenotype
203655 phenotype
209500 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000168453

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
701 Alopecia universalis
86819 Atrichia with papular lesions
444 Marie Unna hereditary hypotrichosis

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA29443

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
HR

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000838901 – 1189Lysine-specific demethylase hairlessAdd BLAST1189

Proteomic databases

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
O43593

PeptideAtlas

More...
PeptideAtlasi
O43593

PRoteomics IDEntifications database

More...
PRIDEi
O43593

ProteomicsDB human proteome resource

More...
ProteomicsDBi
49067
49068 [O43593-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
O43593

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
O43593

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000168453 Expressed in 182 organ(s), highest expression level in skin of abdomen

CleanEx database of gene expression profiles

More...
CleanExi
HS_HR

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
O43593 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
O43593 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA054888

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
120917, 12 interactors

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...
ELMi
O43593

Protein interaction database and analysis system

More...
IntActi
O43593, 24 interactors

Molecular INTeraction database

More...
MINTi
O43593

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000370826

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
O43593

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
O43593

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini946 – 1157JmjCPROSITE-ProRule annotationAdd BLAST212

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi566 – 570LXXLL motif 15
Motifi758 – 762LXXLL motif 25

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>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

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri600 – 625C6-typeAdd BLAST26

Keywords - Domaini

Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1356 Eukaryota
ENOG410XTAA LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000161687

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000293150

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG000171

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
O43593

KEGG Orthology (KO)

More...
KOi
K00478

Identification of Orthologs from Complete Genome Data

More...
OMAi
APHPWVY

Database of Orthologous Groups

More...
OrthoDBi
EOG091G00RB

Database for complete collections of gene phylogenies

More...
PhylomeDBi
O43593

TreeFam database of animal gene trees

More...
TreeFami
TF324723

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR003347 JmjC_dom

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF02373 JmjC, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00558 JmjC, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51184 JMJC, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Note: Additional isoforms seem to exist.

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E5RK80E5RK80_HUMAN
Lysine-specific demethylase hairles...
HR
54Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_027806337G → D3 PublicationsCorresponds to variant dbSNP:rs12675375EnsemblClinVar.1
Natural variantiVAR_061664526L → P. Corresponds to variant dbSNP:rs56140348EnsemblClinVar.1
Natural variantiVAR_005265620R → Q2 PublicationsCorresponds to variant dbSNP:rs117197822EnsemblClinVar.1
Natural variantiVAR_035927633R → Q in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_027807924P → L. Corresponds to variant dbSNP:rs11990421Ensembl.1
Natural variantiVAR_0162221012D → N in ALUNC; affects binding to thyroid hormone receptor; Markedly diminished histone demethylase activity. 2 PublicationsCorresponds to variant dbSNP:rs121434451EnsemblClinVar.1
Natural variantiVAR_0052661022T → A in ALUNC. 1 PublicationCorresponds to variant dbSNP:rs7014851EnsemblClinVar.1
Natural variantiVAR_0052671136V → D in ALUNC. 1 PublicationCorresponds to variant dbSNP:rs121434448EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0042761072 – 1126Missing in isoform 2. 1 PublicationAdd BLAST55

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS6022.1 [O43593-1]
CCDS6023.1 [O43593-2]

NCBI Reference Sequences

More...
RefSeqi
NP_005135.2, NM_005144.4 [O43593-1]
NP_060881.2, NM_018411.4 [O43593-2]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.272367

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000312841; ENSP00000326765; ENSG00000168453 [O43593-2]
ENST00000381418; ENSP00000370826; ENSG00000168453 [O43593-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
55806

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:55806

UCSC genome browser

More...
UCSCi
uc003xas.4 human [O43593-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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, 12 interactors
ELMiO43593
IntActiO43593, 24 interactors
MINTiO43593
STRINGi9606.ENSP00000370826

PTM databases

iPTMnetiO43593
PhosphoSitePlusiO43593

Polymorphism and mutation databases

BioMutaiHR

Proteomic databases

PaxDbiO43593
PeptideAtlasiO43593
PRIDEiO43593
ProteomicsDBi49067
49068 [O43593-2]

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

Comparative Toxicogenomics Database

More...
CTDi
55806
DisGeNETi55806
EuPathDBiHostDB:ENSG00000168453.14

GeneCards: human genes, protein and diseases

More...
GeneCardsi
HR
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

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1356 Eukaryota
ENOG410XTAA LUCA
GeneTreeiENSGT00940000161687
HOGENOMiHOG000293150
HOVERGENiHBG000171
InParanoidiO43593
KOiK00478
OMAiAPHPWVY
OrthoDBiEOG091G00RB
PhylomeDBiO43593
TreeFamiTF324723

Enzyme and pathway databases

SIGNORiO43593

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
HR_(gene)

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
55806

Protein Ontology

More...
PROi
PR:O43593

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000168453 Expressed in 182 organ(s), highest expression level in skin of abdomen
CleanExiHS_HR
ExpressionAtlasiO43593 baseline and differential
GenevisibleiO43593 HS

Family and domain databases

InterProiView protein in InterPro
IPR003347 JmjC_dom
PfamiView protein in Pfam
PF02373 JmjC, 1 hit
SMARTiView protein in SMART
SM00558 JmjC, 1 hit
PROSITEiView protein in PROSITE
PS51184 JMJC, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiHAIR_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O43593
Secondary accession number(s): Q6GS30, Q96H33, Q9NPE1
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: October 3, 2006
Last modified: December 5, 2018
This is version 159 of the entry and version 5 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>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 polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again