O43593 · HAIR_HUMAN
- ProteinLysine-specific demethylase hairless
- GeneHR
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids1189 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Catalytic activity
- 2 2-oxoglutarate + N6,N6-dimethyl-L-lysyl9-[histone H3] + 2 O2 = 2 CO2 + 2 formaldehyde + L-lysyl9-[histone H3] + 2 succinate
2 CHEBI:16810 + RHEA-COMP:15541 CHEBI:61976 Position: 9+ 2 CHEBI:15379 = 2 CHEBI:16526 + 2 CHEBI:16842 + RHEA-COMP:15546 CHEBI:29969 Position: 9+ 2 CHEBI:30031
Cofactor
Features
Showing features for binding site.
GO annotations
Aspect | Term | |
---|---|---|
Cellular Component | chromatin | |
Cellular Component | histone deacetylase complex | |
Cellular Component | nucleoplasm | |
Molecular Function | chromatin DNA binding | |
Molecular Function | histone H3K9 demethylase activity | |
Molecular Function | histone H3K9me/H3K9me2 demethylase activity | |
Molecular Function | metal ion binding | |
Molecular Function | transcription coregulator activity | |
Biological Process | regulation of transcription by RNA polymerase II |
Keywords
- Molecular function
- Biological process
- Ligand
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameLysine-specific demethylase hairless
- EC number
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionO43593
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Disease & Variants
Involvement in disease
Alopecia universalis congenita (ALUNC)
- Note
- DescriptionA rare disorder characterized by loss of hair from the entire body. No hair are present in hair follicles on skin biopsy.
- See alsoMIM:203655
Natural variants in ALUNC
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_016222 | 1012 | D>N | in ALUNC; affects binding to thyroid hormone receptor; Markedly diminished histone demethylase activity; dbSNP:rs121434451 | |
VAR_005266 | 1022 | T>A | in ALUNC; likely benign; dbSNP:rs7014851 | |
VAR_005267 | 1136 | V>D | in ALUNC; dbSNP:rs121434448 |
Atrichia with papular lesions (APL)
- Note
- DescriptionAn autosomal recessive disease characterized by papillary lesions over most of the body and almost complete absence of hair.
- See alsoMIM:209500
Hypotrichosis 4 (HYPT4)
- Note
- 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 alsoMIM:146550
Features
Showing features for natural variant, mutagenesis.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_027806 | 337 | in dbSNP:rs12675375 | |||
Sequence: G → D | ||||||
Natural variant | VAR_061664 | 526 | in dbSNP:rs56140348 | |||
Sequence: L → P | ||||||
Natural variant | VAR_005265 | 620 | in dbSNP:rs117197822 | |||
Sequence: R → Q | ||||||
Natural variant | VAR_035927 | 633 | in a colorectal cancer sample; somatic mutation | |||
Sequence: R → Q | ||||||
Natural variant | VAR_027807 | 924 | in dbSNP:rs11990421 | |||
Sequence: P → L | ||||||
Natural variant | VAR_016222 | 1012 | in ALUNC; affects binding to thyroid hormone receptor; Markedly diminished histone demethylase activity; dbSNP:rs121434451 | |||
Sequence: D → N | ||||||
Natural variant | VAR_005266 | 1022 | in ALUNC; likely benign; dbSNP:rs7014851 | |||
Sequence: T → A | ||||||
Mutagenesis | 1056 | Markedly diminishes histone demethylase activity. | ||||
Sequence: V → M | ||||||
Natural variant | VAR_005267 | 1136 | in ALUNC; dbSNP:rs121434448 | |||
Sequence: V → D |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 1,485 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain, modified residue (large scale data).
Type | ID | Position(s) | Source | Description | |||
---|---|---|---|---|---|---|---|
Chain | PRO_0000083890 | 1-1189 | UniProt | Lysine-specific demethylase hairless | |||
Sequence: MESTPSFLKGTPTWEKTAPENGIVRQEPGSPPRDGLHHGPLCLGEPAPFWRGVLSTPDSWLPPGFPQGPKDMLPLVEGEGPQNGERKVNWLGSKEGLRWKEAMLTHPLAFCGPACPPRCGPLMPEHSGGHLKSDPVAFRPWHCPFLLETKILERAPFWVPTCLPPYLVSGLPPEHPCDWPLTPHPWVYSGGQPKVPSAFSLGSKGFYYKDPSIPRLAKEPLAAAEPGLFGLNSGGHLQRAGEAERPSLHQRDGEMGAGRQQNPCPLFLGQPDTVPWTSWPACPPGLVHTLGNVWAGPGDGNLGYQLGPPATPRCPSPEPPVTQRGCCSSYPPTKGGGLGPCGKCQEGLEGGASGASEPSEEVNKASGPRACPPSHHTKLKKTWLTRHSEQFECPRGCPEVEERPVARLRALKRAGSPEVQGAMGSPAPKRPPDPFPGTAEQGAGGWQEVRDTSIGNKDVDSGQHDEQKGPQDGQASLQDPGLQDIPCLALPAKLAQCQSCAQAAGEGGGHACHSQQVRRSPLGGELQQEEDTATNSSSEEGPGSGPDSRLSTGLAKHLLSGLGDRLCRLLRREREALAWAQREGQGPAVTEDSPGIPRCCSRCHHGLFNTHWRCPRCSHRLCVACGRVAGTGRAREKAGFQEQSAEECTQEAGHAACSLMLTQFVSSQALAELSTAMHQVWVKFDIRGHCPCQADARVWAPGDAGQQKESTQKTPPTPQPSCNGDTHRTKSIKEETPDSAETPAEDRAGRGPLPCPSLCELLASTAVKLCLGHERIHMAFAPVTPALPSDDRITNILDSIIAQVVERKIQEKALGPGLRAGPGLRKGLGLPLSPVRPRLPPPGALLWLQEPQPCPRRGFHLFQEHWRQGQPVLVSGIQRTLQGNLWGTEALGALGGQVQALSPLGPPQPSSLGSTTFWEGFSWPELRPKSDEGSVLLLHRALGDEDTSRVENLAASLPLPEYCALHGKLNLASYLPPGLALRPLEPQLWAAYGVSPHRGHLGTKNLCVEVADLVSILVHADTPLPAWHRAQKDFLSGLDGEGLWSPGSQVSTVWHVFRAQDAQRIRRFLQMVCPAGAGALEPGAPGSCYLDAGLRRRLREEWGVSCWTLLQAPGEAVLVPAGAPHQVQGLVSTVSVTQHFLSPETSALSAQLCHQGPSLPPDCHLLYAQMDWAVFQAVKVAVGTLQEAK | |||||||
Modified residue (large scale data) | 316 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 416 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 833 | PRIDE | Phosphoserine | ||||
Sequence: S |
Proteomic databases
PTM databases
Expression
Tissue specificity
Gene expression databases
Organism-specific databases
Interaction
Binary interactions
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for region, compositional bias, motif, zinc finger, domain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Region | 1-40 | Disordered | ||||
Sequence: MESTPSFLKGTPTWEKTAPENGIVRQEPGSPPRDGLHHGP | ||||||
Region | 236-257 | Disordered | ||||
Sequence: HLQRAGEAERPSLHQRDGEMGA | ||||||
Region | 349-377 | Disordered | ||||
Sequence: EGGASGASEPSEEVNKASGPRACPPSHHT | ||||||
Region | 414-480 | Disordered | ||||
Sequence: AGSPEVQGAMGSPAPKRPPDPFPGTAEQGAGGWQEVRDTSIGNKDVDSGQHDEQKGPQDGQASLQDP | ||||||
Compositional bias | 453-467 | Basic and acidic residues | ||||
Sequence: SIGNKDVDSGQHDEQ | ||||||
Region | 505-552 | Disordered | ||||
Sequence: GEGGGHACHSQQVRRSPLGGELQQEEDTATNSSSEEGPGSGPDSRLST | ||||||
Compositional bias | 527-545 | Polar residues | ||||
Sequence: QQEEDTATNSSSEEGPGSG | ||||||
Motif | 566-570 | LXXLL motif 1 | ||||
Sequence: LCRLL | ||||||
Zinc finger | 600-625 | C6-type | ||||
Sequence: CSRCHHGLFNTHWRCPRCSHRLCVAC | ||||||
Region | 702-750 | Disordered | ||||
Sequence: GDAGQQKESTQKTPPTPQPSCNGDTHRTKSIKEETPDSAETPAEDRAGR | ||||||
Compositional bias | 705-726 | Polar residues | ||||
Sequence: GQQKESTQKTPPTPQPSCNGDT | ||||||
Compositional bias | 727-745 | Basic and acidic residues | ||||
Sequence: HRTKSIKEETPDSAETPAE | ||||||
Motif | 758-762 | LXXLL motif 2 | ||||
Sequence: LCELL | ||||||
Domain | 946-1157 | JmjC | ||||
Sequence: DTSRVENLAASLPLPEYCALHGKLNLASYLPPGLALRPLEPQLWAAYGVSPHRGHLGTKNLCVEVADLVSILVHADTPLPAWHRAQKDFLSGLDGEGLWSPGSQVSTVWHVFRAQDAQRIRRFLQMVCPAGAGALEPGAPGSCYLDAGLRRRLREEWGVSCWTLLQAPGEAVLVPAGAPHQVQGLVSTVSVTQHFLSPETSALSAQLCHQGP |
Domain
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence & Isoform
- Sequence statusComplete
This entry describes 2 isoforms produced by Alternative splicing. Additional isoforms seem to exist.
O43593-1
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.
- Name1
- SynonymsLong
- Length1,189
- Mass (Da)127,495
- Last updated2006-10-03 v5
- Checksum67A4B95A01063387
O43593-2
- Name2
- SynonymsShort
- Differences from canonical
- 1072-1126: Missing
Computationally mapped potential isoform sequences
There is 1 potential isoform mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
E5RK80 | E5RK80_HUMAN | HR | 54 |
Features
Showing features for compositional bias, alternative sequence.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Compositional bias | 453-467 | Basic and acidic residues | ||||
Sequence: SIGNKDVDSGQHDEQ | ||||||
Compositional bias | 527-545 | Polar residues | ||||
Sequence: QQEEDTATNSSSEEGPGSG | ||||||
Compositional bias | 705-726 | Polar residues | ||||
Sequence: GQQKESTQKTPPTPQPSCNGDT | ||||||
Compositional bias | 727-745 | Basic and acidic residues | ||||
Sequence: HRTKSIKEETPDSAETPAE | ||||||
Alternative sequence | VSP_004276 | 1072-1126 | in isoform 2 | |||
Sequence: Missing |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AF039196 EMBL· GenBank· DDBJ | AAC32258.3 EMBL· GenBank· DDBJ | mRNA | ||
AJ277249 EMBL· GenBank· DDBJ | CAB87577.2 EMBL· GenBank· DDBJ | Genomic DNA | ||
AJ277250 EMBL· GenBank· DDBJ | CAB87577.2 EMBL· GenBank· DDBJ | Genomic DNA | ||
AJ277251 EMBL· GenBank· DDBJ | CAB87577.2 EMBL· GenBank· DDBJ | Genomic DNA | ||
AJ277252 EMBL· GenBank· DDBJ | CAB87577.2 EMBL· GenBank· DDBJ | Genomic DNA | ||
AJ277253 EMBL· GenBank· DDBJ | CAB87577.2 EMBL· GenBank· DDBJ | Genomic DNA | ||
AJ400825 EMBL· GenBank· DDBJ | CAB87577.2 EMBL· GenBank· DDBJ | Genomic DNA | ||
AJ400826 EMBL· GenBank· DDBJ | CAB87577.2 EMBL· GenBank· DDBJ | Genomic DNA | ||
AJ400827 EMBL· GenBank· DDBJ | CAB87577.2 EMBL· GenBank· DDBJ | Genomic DNA | ||
AJ400828 EMBL· GenBank· DDBJ | CAB87577.2 EMBL· GenBank· DDBJ | Genomic DNA | ||
AJ400829 EMBL· GenBank· DDBJ | CAB87577.2 EMBL· GenBank· DDBJ | Genomic DNA | ||
AJ400830 EMBL· GenBank· DDBJ | CAB87577.2 EMBL· GenBank· DDBJ | Genomic DNA | ||
AJ400831 EMBL· GenBank· DDBJ | CAB87577.2 EMBL· GenBank· DDBJ | Genomic DNA | ||
AJ400832 EMBL· GenBank· DDBJ | CAB87577.2 EMBL· GenBank· DDBJ | Genomic DNA | ||
AJ400833 EMBL· GenBank· DDBJ | CAB87577.2 EMBL· GenBank· DDBJ | Genomic DNA | ||
AJ400834 EMBL· GenBank· DDBJ | CAB87577.2 EMBL· GenBank· DDBJ | Genomic DNA | ||
AJ400835 EMBL· GenBank· DDBJ | CAB87577.2 EMBL· GenBank· DDBJ | Genomic DNA | ||
AJ400836 EMBL· GenBank· DDBJ | CAB87577.2 EMBL· GenBank· DDBJ | Genomic DNA | ||
AJ400837 EMBL· GenBank· DDBJ | CAB87577.2 EMBL· GenBank· DDBJ | Genomic DNA | ||
AJ277165 EMBL· GenBank· DDBJ | CAB86602.1 EMBL· GenBank· DDBJ | mRNA | ||
BC067128 EMBL· GenBank· DDBJ | AAH67128.1 EMBL· GenBank· DDBJ | mRNA |