Aliases for KDM1A Gene
Aliases for KDM1A Gene
- Lysine Demethylase 1A 2 3 5
- Flavin-Containing Amine Oxidase Domain-Containing Protein 2 3 4
- Amine Oxidase (Flavin Containing) Domain 2 2 3
- Lysine-Specific Histone Demethylase 1A 2 3
- BRAF35-HDAC Complex Protein BHC110 3 4
- AOF2 3 4
- KDM1 3 4
- LSD1 3 4
- FAD-Binding Protein BRAF35-HDAC Complex, 110 KDa Subunit 3
External Ids for KDM1A Gene
- HGNC: 29079
- Entrez Gene: 23028
- Ensembl: ENSG00000004487
- OMIM: 609132
- UniProtKB: O60341
Previous HGNC Symbols for KDM1A Gene
- AOF2
- KDM1
Previous GeneCards Identifiers for KDM1A Gene
- GC01P023220
- GC01P023347
- GC01P021590
Summaries for KDM1A Gene
-
This gene encodes a nuclear protein containing a SWIRM domain, a FAD-binding motif, and an amine oxidase domain. This protein is a component of several histone deacetylase complexes, though it silences genes by functioning as a histone demethylase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]
GeneCards Summary for KDM1A Gene
KDM1A (Lysine Demethylase 1A) is a Protein Coding gene. Diseases associated with KDM1A include Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features and Kbg Syndrome. Among its related pathways are Signaling by Rho GTPases and Coregulation of Androgen receptor activity. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and enzyme binding. An important paralog of this gene is KDM1B.
UniProtKB/Swiss-Prot for KDM1A Gene
-
Histone demethylase that demethylates both Lys-4 (H3K4me) and Lys-9 (H3K9me) of histone H3, thereby acting as a coactivator or a corepressor, depending on the context. Acts by oxidizing the substrate by FAD to generate the corresponding imine that is subsequently hydrolyzed. Acts as a corepressor by mediating demethylation of H3K4me, a specific tag for epigenetic transcriptional activation. Demethylates both mono- (H3K4me1) and di-methylated (H3K4me2) H3K4me. May play a role in the repression of neuronal genes. Alone, it is unable to demethylate H3K4me on nucleosomes and requires the presence of RCOR1/CoREST to achieve such activity. Also acts as a coactivator of androgen receptor (ANDR)-dependent transcription, by being recruited to ANDR target genes and mediating demethylation of H3K9me, a specific tag for epigenetic transcriptional repression. The presence of PRKCB in ANDR-containing complexes, which mediates phosphorylation of Thr-6 of histone H3 (H3T6ph), a specific tag that prevents demethylation H3K4me, prevents H3K4me demethylase activity of KDM1A. Demethylates di-methylated Lys-370 of p53/TP53 which prevents interaction of p53/TP53 with TP53BP1 and represses p53/TP53-mediated transcriptional activation. Demethylates and stabilizes the DNA methylase DNMT1. Required for gastrulation during embryogenesis. Component of a RCOR/GFI/KDM1A/HDAC complex that suppresses, via histone deacetylase (HDAC) recruitment, a number of genes implicated in multilineage blood cell development. Effector of SNAI1-mediated transcription repression of E-cadherin/CDH1, CDN7 and KRT8. Required for the maintenance of the silenced state of the SNAI1 target genes E-cadherin/CDH1 and CDN7.
-
Histone demethylases (KDMs) are a family of enzymes that catalyze the removal of methyl groups from lysine and arginine residues on histone tails. They reverse the methylation of lysine and arginine residues that is catalyzed by histone methyltransferases.
Additional gene information for KDM1A Gene
- Monarch Initiative
- Search for KDM1A at DataMed
- Search for KDM1A at HumanCyc
No data available for CIViC summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KDM1A Gene
Genomics for KDM1A Gene
GeneHancer (GH) Regulatory Elements for KDM1A Gene
Promoters and enhancers for KDM1A Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around KDM1A on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for KDM1A Gene
Genomic Locations for KDM1A Gene
- chr1:23,019,443-23,083,691
- (GRCh38/hg38)
- Size:
- 64,249 bases
- Orientation:
- Plus strand
- chr1:23,345,941-23,410,184
- (GRCh37/hg19)
- Size:
- 64,244 bases
- Orientation:
- Plus strand
Genomic View for KDM1A Gene
Genes around KDM1A on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1p36.12 by Entrez Gene
- 1p36.12 by HGNC
- 1p36.12 by Ensembl
KDM1A Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for KDM1A Gene
Proteins for KDM1A Gene
-
Protein details for KDM1A Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O60341-KDM1A_HUMAN
- Recommended name:
- Lysine-specific histone demethylase 1A
- Protein Accession:
- O60341
- A8MWP9
- Q5TH94
- Q5TH95
- Q86VT7
- Q8IXK4
- Q8NDP6
- Q8TAZ3
- Q96AW4
Protein attributes for KDM1A Gene
- Size:
- 852 amino acids
- Molecular mass:
- 92903 Da
- Cofactor:
- Name=FAD; Xref=ChEBI:CHEBI:57692;
- Quaternary structure:
-
- Component of a RCOR/GFI/KDM1A/HDAC complex (PubMed:12032298, PubMed:11102443). Interacts directly with GFI1 and GFI1B. Interacts with INSM1 (By similarity). Component of a BHC histone deacetylase complex that contains HDAC1, HDAC2, HMG20B, KDM1A, RCOR1 and PHF21A. The BHC complex may also contain ZMYM2, ZNF217, ZMYM3, GSE1 and GTF2I (PubMed:12493763, PubMed:16140033, PubMed:16885027). In the complex, RCOR1/CoREST strongly enhances the demethylase activity and protects it from the proteasome while PHF21A/BHC80 inhibits the demethylase activity (PubMed:16079794, PubMed:16956976). Interacts with the androgen receptor (AR) (PubMed:16079795). Interacts with ASXL1 (PubMed:19880879). Interacts with SNAI1 (via SNAG domain) (PubMed:20562920). Interacts (via AOD/Tower domain) with JADE2 (via C-terminus) (PubMed:25018020). Interacts with ESRRB; co-occupes the core set of ESRRB targets (By similarity).
- SequenceCaution:
-
- Sequence=BAA25527.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
Three dimensional structures from OCA and Proteopedia for KDM1A Gene
Protein Expression for KDM1A Gene
Post-translational modifications for KDM1A Gene
- Polyubiquitinated by JADE2; which leads to its proteasomal degradation.
- Ubiquitination at isoforms=2744, Lys732, isoforms=2647, Lys492, isoforms=2374, isoforms=2355, Lys322, and isoforms=2280
- Modification sites at PhosphoSitePlus
Other Protein References for KDM1A Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for KDM1A
-
Abcam antibodies for KDM1A
- Invitrogen Antibodies for KDM1A (AFLGC-KDM1A)
- antibodies-online: Search results for 217 available KDM1A Antibodies ranked by validation data
- Compare Top KDM1A Antibodies
-
Recommended
- 175 WB Antibodies (anti-human)
- 24 IF (p) Antibodies (anti-human)
- 3 IP Antibodies (anti-human)
- 2 IF/ICC Antibodies (anti-human)
- 1 IF Antibody (anti-human)
- 1 IHC (p) Antibody (anti-human)
- 97 WB Antibodies (anti-mouse)
- 24 IF (p) Antibodies (anti-mouse)
- 1 IF/ICC Antibody (anti-mouse)
- 73 WB Antibodies (anti-rat)
- 24 IF (p) Antibodies (anti-rat)
- GeneTex KDM1A Antibody for KDM1A
-
Santa Cruz Biotechnology (SCBT) Antibodies for KDM1A
Protein Products
-
OriGene Purified Proteins for KDM1A
- Search Origene for MassSpec and Protein Over-expression Lysates for KDM1A
- Origene Custom Protein Services for KDM1A
- Sino Biological Recombinant Proteins for KDM1A
- Sino Biological Cell Lysates for KDM1A
- Search GeneTex for Proteins for KDM1A
-
Abcam proteins for KDM1A
Assay Products
No data available for DME Specific Peptides for KDM1A Gene
Domains & Families for KDM1A Gene
Gene Families for KDM1A Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
- Predicted secreted proteins
Protein Domains for KDM1A Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for KDM1A Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
O60341UniProtKB/Swiss-Prot:
KDM1A_HUMAN :- The SWIRM domain may act as an anchor site for a histone tail.
- Belongs to the flavin monoamine oxidase family.
- Domain:
-
- The SWIRM domain may act as an anchor site for a histone tail.
- Family:
-
- Belongs to the flavin monoamine oxidase family.
Function for KDM1A Gene
Molecular function for KDM1A Gene
- UniProtKB/Swiss-Prot Function:
- Histone demethylase that demethylates both Lys-4 (H3K4me) and Lys-9 (H3K9me) of histone H3, thereby acting as a coactivator or a corepressor, depending on the context. Acts by oxidizing the substrate by FAD to generate the corresponding imine that is subsequently hydrolyzed. Acts as a corepressor by mediating demethylation of H3K4me, a specific tag for epigenetic transcriptional activation. Demethylates both mono- (H3K4me1) and di-methylated (H3K4me2) H3K4me. May play a role in the repression of neuronal genes. Alone, it is unable to demethylate H3K4me on nucleosomes and requires the presence of RCOR1/CoREST to achieve such activity. Also acts as a coactivator of androgen receptor (ANDR)-dependent transcription, by being recruited to ANDR target genes and mediating demethylation of H3K9me, a specific tag for epigenetic transcriptional repression. The presence of PRKCB in ANDR-containing complexes, which mediates phosphorylation of Thr-6 of histone H3 (H3T6ph), a specific tag that prevents demethylation H3K4me, prevents H3K4me demethylase activity of KDM1A. Demethylates di-methylated Lys-370 of p53/TP53 which prevents interaction of p53/TP53 with TP53BP1 and represses p53/TP53-mediated transcriptional activation. Demethylates and stabilizes the DNA methylase DNMT1. Required for gastrulation during embryogenesis. Component of a RCOR/GFI/KDM1A/HDAC complex that suppresses, via histone deacetylase (HDAC) recruitment, a number of genes implicated in multilineage blood cell development. Effector of SNAI1-mediated transcription repression of E-cadherin/CDH1, CDN7 and KRT8. Required for the maintenance of the silenced state of the SNAI1 target genes E-cadherin/CDH1 and CDN7.
- UniProtKB/Swiss-Prot BiophysicochemicalProperties:
- Kinetic parameters: KM=3.0 uM for H3 monomethyl-K4 {ECO:0000269 PubMed:16223729}; KM=4.2 uM for H3 dimethyl-K4 {ECO:0000269 PubMed:16223729}; KM=3.9 uM for H3 monomethyl-K4-monomethyl-K9 {ECO:0000269 PubMed:16223729}; KM=17.5 uM for monomethyl-K4-acetyl-K9 {ECO:0000269 PubMed:16223729};
- UniProtKB/Swiss-Prot Induction:
- Down-regulated during neural differentiation in neuroblastoma cancer.
Enzyme Numbers (IUBMB) for KDM1A Gene
Phenotypes From GWAS Catalog for KDM1A Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002039 | p53 binding | IPI | 17805299 |
| GO:0003677 | DNA binding | IEA | -- |
| GO:0003682 | chromatin binding | IEA,IDA | 16079795 |
| GO:0004407 | histone deacetylase activity | TAS | -- |
| GO:0005515 | protein binding | IPI | 16169070 |
Phenotypes for KDM1A Gene
- MGI mutant phenotypes for KDM1A:
-
inferred from 10 alleles
- cardiovascular system phenotype
- respiratory system phenotype
- homeostasis/metabolism phenotype
- nervous system phenotype
- behavior/neurological phenotype
- no phenotypic analysis
- endocrine/exocrine gland phenotype
- mortality/aging
- cellular phenotype
- liver/biliary system phenotype
- skeleton phenotype
- embryo phenotype
- renal/urinary system phenotype
- hematopoietic system phenotype
- immune system phenotype
- growth/size/body region phenotype
- GenomeRNAi human phenotypes for KDM1A:
-
- Decreased shRNA abundance (Z-score < -2)
- Increased cilium length
- Increased cilium length after serum starvation
- Increased Nanog expression
- Increased shRNA abundance (Z-score > 2)
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Mildly decreased CFP-tsO45G cell surface transport
- shRNA abundance <= 50%
Animal Models for KDM1A Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for KDM1A
- Cyagen custom Knockout/knockin (KOKI) mouse models for KDM1A
-
CRISPR Products
-
OriGene CRISPR knockouts for KDM1A
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KDM1A
- genomics-online: gRNA clones - Search results for available KDM1A gene related products
- Applied Biological Materials CRISPR for KDM1A
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for KDM1A
- GenScript: Design CRISPR guide RNA sequences for KDM1A
miRNA for KDM1A Gene
- miRTarBase miRNAs that target KDM1A
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for KDM1A
- Browse OriGene Inhibitory RNA Products For KDM1A
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KDM1A
- genomics-online: shRNA clones - Search results for available KDM1A gene related products
Clone Products
- Sino Biological Human cDNA Clone for KDM1A
- Addgene plasmids for KDM1A
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for KDM1A
- genomics-online: cdna clones - Search results for available KDM1A gene related products
- orf clones - Search results for available KDM1A gene related products
- Applied Biological Materials Clones for KDM1A
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for KDM1A
No data available for Transcription Factor Targets and HOMER Transcription for KDM1A Gene
Localization for KDM1A Gene
Subcellular locations from UniProtKB/Swiss-Prot for KDM1A Gene
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 2 |
| extracellular | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
- Nucleoplasm (4)
- Cytosol (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000784 | nuclear chromosome, telomeric region | IDA | 24529708 |
| GO:0000790 | nuclear chromatin | IEA,ISS | 20833138 |
| GO:0005634 | nucleus | IDA | 16079795 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005667 | transcription factor complex | ISS | -- |
Pathways & Interactions for KDM1A Gene
Pathways by source for KDM1A Gene
1 GeneTex pathway for KDM1A Gene
4 BioSystems pathways for KDM1A Gene
1 KEGG pathway for KDM1A Gene
1 R&D Systems pathway for KDM1A Gene
1 Cell Signaling Technology pathway for KDM1A Gene
Interacting Proteins for KDM1A Gene
Selected Interacting proteins:
O60341-KDM1A_HUMAN
ENSP00000383042
for KDM1A Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for KDM1A
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000122 | negative regulation of transcription by RNA polymerase II | ISS | -- |
| GO:0000380 | alternative mRNA splicing, via spliceosome | IEA | -- |
| GO:0006325 | chromatin organization | IEA | -- |
| GO:0006351 | transcription, DNA-templated | IEA | -- |
| GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
No data available for SIGNOR curated interactions for KDM1A Gene
Drugs & Compounds for KDM1A Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Drug Products
Transcripts for KDM1A Gene
mRNA/cDNA for KDM1A Gene
- (8) REFSEQ mRNAs :
- (7) Additional mRNA sequences :
- (350) Selected AceView cDNA sequences:
- (6) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000465864 3039 bps (uc057deo.1)
- ENST00000356634 3033 bps (uc001bgi.3)
- ENST00000400181 3059 bps (uc001bgj.3)
- ENST00000481879 525 bps (uc057den.1)
- ENST00000494920 905 bps (uc057dep.1)
Unigene Clusters for KDM1A Gene
- Lysine (K)-specific demethylase 1A:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for KDM1A
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KDM1A
- genomics-online: gRNA clones - Search results for available KDM1A gene related products
- Applied Biological Materials CRISPR for KDM1A
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for KDM1A
- GenScript: Design CRISPR guide RNA sequences for KDM1A
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for KDM1A
- Browse OriGene Inhibitory RNA Products For KDM1A
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KDM1A
- genomics-online: shRNA clones - Search results for available KDM1A gene related products
Clone Products
- Sino Biological Human cDNA Clone for KDM1A
- Addgene plasmids for KDM1A
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for KDM1A
- genomics-online: cdna clones - Search results for available KDM1A gene related products
- orf clones - Search results for available KDM1A gene related products
- Applied Biological Materials Clones for KDM1A
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14a | · | 14b | ^ | 15 | ^ | 16a | · | 16b | · | 16c | ^ | 17a | · | 17b | · | 17c | ^ | 18 | ^ | 19a | · | 19b | ^ | 20 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: |
| ExUns: | 21 |
|---|---|
| SP1: | |
| SP2: | |
| SP3: | |
| SP4: | |
| SP5: | |
| SP6: |
Expression for KDM1A Gene
This gene is overexpressed in Serum (32.7).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for KDM1A Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of KDM1A Gene:
KDM1ASOURCE GeneReport for Unigene cluster for KDM1A Gene:
Hs.591518mRNA Expression by UniProt/SwissProt for KDM1A Gene:
O60341-KDM1A_HUMAN
Tissue specificity:
Ubiquitously expressed.
Evidence on tissue expression from TISSUES for KDM1A Gene
- Nervous system(4.8)
- Liver(4.4)
- Skin(4.3)
- Blood(2.1)
- Lung(2.1)
- Eye(2)
- Intestine(2)
Primer Products
-
OriGene qPCR primer pairs for KDM1A
-
OriGene qPCR primer pairs and template standards for KDM1A
- genomics-online: primer clones - Search results for available KDM1A gene related products
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for KDM1A Gene
Orthologs for KDM1A Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | KDM1A 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | KDM1A 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | KDM1A 34 33 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | KDM1A 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | AOF2 34 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Kdm1a 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Kdm1a 16 34 33 |
|
||
| chicken (Gallus gallus) |
Aves | KDM1A 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | KDM1A 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | kdm1a 33 |
|
||
| Str.3510 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.24726 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | kdm1a 34 33 |
|
OneToOne | |
| wufc51a02 33 |
|
||||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP011661 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | Su(var)3-3 34 33 |
|
OneToOne | |
| worm (Caenorhabditis elegans) |
Secernentea | spr-5 33 |
|
||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | LDL2 33 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os08g0143400 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.9877 34 |
|
OneToOne | |
| bread mold (Neurospora crassa) |
Ascomycetes | NCU09120 33 |
|
- Species where no ortholog for KDM1A was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Evolution for KDM1A Gene
- ENSEMBL:
- Gene Tree for KDM1A (if available)
- TreeFam:
- Gene Tree for KDM1A (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for KDM1A: view image
Paralogs for KDM1A Gene
Variants for KDM1A Gene
| SNP ID | Clin | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs864309714 | pathogenic, Cleft palate, psychomotor retardation, and distinctive facial features, Cleft palate, psychomotor retardation, and distinctive facial features (CPRF) [MIM:616728] | 23,082,274(+) | T/C | coding_sequence_variant, missense_variant | |
| rs864309715 | pathogenic, Cleft palate, psychomotor retardation, and distinctive facial features, Cleft palate, psychomotor retardation, and distinctive facial features (CPRF) [MIM:616728] | 23,068,566(+) | G/A | coding_sequence_variant, missense_variant | |
| rs864309716 | conflicting-interpretations-of-pathogenicity, Cleft palate, psychomotor retardation, and distinctive facial features, Cleft palate, psychomotor retardation, and distinctive facial features (CPRF) [MIM:616728] | 23,077,232(+) | A/G | coding_sequence_variant, missense_variant | |
| rs1000019170 | -- | 23,038,723(+) | A/G | intron_variant | |
| rs1000026842 | -- | 23,025,365(+) | TTTT/TT | genic_upstream_transcript_variant, intron_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3425192 | CNV | insertion | 20981092 |
| nsv6520 | CNV | insertion | 18451855 |
Residual Variation Intolerance Score:
7.22% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.76;
15.97% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for KDM1A Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KDM1A Gene
Disorders for KDM1A Gene
(4) MalaCards diseases for KDM1A Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| cleft palate, psychomotor retardation, and distinctive facial features |
|
|
| kbg syndrome |
|
|
| neuroblastoma |
|
|
| ewing sarcoma |
|
|
Search KDM1A in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
KDM1A_HUMAN- Cleft palate, psychomotor retardation, and distinctive facial features (CPRF) [MIM:616728]: A syndrome characterized by cleft palate, developmental delay, psychomotor retardation, and facial dysmorphic features including a prominent forehead, slightly arched eyebrows, elongated palpebral fissures, a wide nasal bridge, thin lips, and widely spaced teeth. Cleft palate is a congenital fissure of the soft and/or hard palate, due to faulty fusion. {ECO:0000269 PubMed:23020937, ECO:0000269 PubMed:24838796, ECO:0000269 PubMed:26656649}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for KDM1A
- Genetic Association Database
- (GAD)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for KDM1A Gene
Publications for KDM1A Gene
- A candidate X-linked mental retardation gene is a component of a new family of histone deacetylase-containing complexes. (PMID: 12493763) Hakimi MA … Shiekhattar R (The Journal of biological chemistry 2003) 2 3 4 22 58
- p53 is regulated by the lysine demethylase LSD1. (PMID: 17805299) Huang J … Berger SL (Nature 2007) 3 4 22 58
- Solution structure of the SWIRM domain of human histone demethylase LSD1. (PMID: 16531230) Tochio N … Yokoyama S (Structure (London, England : 1993) 2006) 3 4 22 58
- Structural basis for CoREST-dependent demethylation of nucleosomes by the human LSD1 histone demethylase. (PMID: 16885027) Yang M … Yu H (Molecular cell 2006) 3 4 22 58
- Crystal structure of human histone lysine-specific demethylase 1 (LSD1). (PMID: 16956976) Chen Y … Lei M (Proceedings of the National Academy of Sciences of the United States of America 2006) 3 4 22 58
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Sources for KDM1A Gene
- (1) GeneCards
- (2) HGNC
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- (4) Swiss-Prot
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- (7) GeneLoc
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- (68) Cloud-Clone Corp.
- (69) OCA
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- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
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- (77) SIMAP
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- (80) miRTarBase
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