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The protein encoded by this gene is a component of a histone methyltransferase (HMT) complex that produces mono-, di-, and trimethylated histone H3 at Lys4. Trimethylation of histone H3 at lysine 4 (H3K4me3) is a chromatin modification known to generally mark the transcription start sites of active genes. The protein contains SET domains, a RNA recognition motif domain and is a... See more...
Aliases for SETD1A Gene
Aliases for SETD1A Gene
External Ids for SETD1A Gene
- HGNC: 29010
- Entrez Gene: 9739
- Ensembl: ENSG00000099381
- OMIM: 611052
- UniProtKB: O15047
Previous GeneCards Identifiers for SETD1A Gene
- GC16P030877
- GC16P030878
- GC16P030968
- GC16P028531
- GC16P030948
Summaries for SETD1A Gene
-
The protein encoded by this gene is a component of a histone methyltransferase (HMT) complex that produces mono-, di-, and trimethylated histone H3 at Lys4. Trimethylation of histone H3 at lysine 4 (H3K4me3) is a chromatin modification known to generally mark the transcription start sites of active genes. The protein contains SET domains, a RNA recognition motif domain and is a member of the class V-like SAM-binding methyltransferase superfamily. [provided by RefSeq, Dec 2016]
GeneCards Summary for SETD1A Gene
SETD1A (SET Domain Containing 1A, Histone Lysine Methyltransferase) is a Protein Coding gene. Diseases associated with SETD1A include Epilepsy, Early-Onset, With Or Without Developmental Delay and Schizophrenia. Among its related pathways are Lysine degradation and PKMTs methylate histone lysines. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and nucleotide binding. An important paralog of this gene is SETD1B.
UniProtKB/Swiss-Prot Summary for SETD1A Gene
-
Histone methyltransferase that specifically methylates 'Lys-4' of histone H3, when part of the SET1 histone methyltransferase (HMT) complex, but not if the neighboring 'Lys-9' residue is already methylated. H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation. The non-overlapping localization with SETD1B suggests that SETD1A and SETD1B make non-redundant contributions to the epigenetic control of chromatin structure and gene expression.
Additional gene information for SETD1A Gene
- HGNC(29010)
- Entrez Gene(9739)
- Ensembl(ENSG00000099381)
- OMIM(611052)
- UniProtKB(O15047)
- Open Targets Platform(ENSG00000099381)
- Monarch Initiative
- Search for SETD1A at DataMed
- Search for SETD1A at HumanCyc
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SETD1A Gene
Genomics for SETD1A Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for SETD1A 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 SETD1A on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SETD1A
- Top Transcription factor binding sites by QIAGEN in the SETD1A gene promoter:
-
- CUTL1
- E2F
- E2F-1
- E2F-2
- E2F-3a
- E2F-4
- E2F-5
- HTF
- MZF-1
- SEF-1 (1)
Genomic Locations for SETD1A Gene
Genomic Locations for SETD1A Gene
- chr16:30,956,618-30,984,664
- (GRCh38/hg38)
- Size:
- 28,047 bases
- Orientation:
- Plus strand
- chr16:30,968,615-30,996,437
- (GRCh37/hg19)
- Size:
- 27,823 bases
- Orientation:
- Plus strand
Genomic View for SETD1A Gene
Genes around SETD1A on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 16p11.2 by HGNC
- 16p11.2 by Entrez Gene
- 16p11.2 by Ensembl
SETD1A 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 SETD1A Gene
Proteins for SETD1A Gene
-
Protein details for SETD1A Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O15047-SET1A_HUMAN
- Recommended name:
- Histone-lysine N-methyltransferase SETD1A
- Protein Accession:
- O15047
- A6NP62
- Q6PIF3
- Q8TAJ6
Protein attributes for SETD1A Gene
- Size:
- 1707 amino acids
- Molecular mass:
- 186034 Da
- Quaternary structure:
-
- Component of the SET1 complex, at least composed of the catalytic subunit (SETD1A or SETD1B), WDR5, WDR82, RBBP5, ASH2L/ASH2, CXXC1/CFP1, HCFC1 and DPY30. Interacts with HCFC1. Interacts with ASH2/ASH2L, CXXC1/CFP1 and RBBP5. Interacts (via the RRM domain) with WDR82. Interacts (via the RRM domain) with hyperphosphorylated C-terminal domain (CTD) of RNA polymerase II large subunit (POLR2A) only in the presence of WDR82. Binds specifically to CTD heptad repeats phosphorylated on 'Ser-5' of each heptad. Interacts with ZNF335. Interacts with SUPT6H. Interacts with NAP1L1 (By similarity). Interacts (via WIN motif) with WDR5 (PubMed:17998332, PubMed:22665483, PubMed:22266653).
- SequenceCaution:
-
- Sequence=AAH35795.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAA20797.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
Protein Expression for SETD1A Gene
Selected DME Specific Peptides for SETD1A Gene
- O15047:
-
- IGSSYLF
- KYGEVEEVEIL
- CGTESCR
- TSVMGNIIH
- ARFINHCC
- MTILYDIWN
- FRVDHDTIIDATKCGN
- SLDSRIEMLLK
- PNCYAKV
- SERRSEQRRLLS
Post-translational modifications for SETD1A Gene
Other Protein References for SETD1A Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for SETD1A
-
Abcam antibodies for SETD1A
- Invitrogen Antibodies for SETD1A (AFLGC-SETD1A)
-
Boster Bio Antibodies for SETD1A
-
Santa Cruz Biotechnology (SCBT) Antibodies for SETD1A
Protein Products
-
OriGene Purified Proteins for SETD1A
- Search Origene for MassSpec and Protein Over-expression Lysates for SETD1A
- Origene Custom Protein Services for SETD1A
- Novus Biologicals proteins for SETD1A
Domains & Families for SETD1A Gene
Gene Families for SETD1A Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Enzymes
- Predicted intracellular proteins
Protein Domains for SETD1A Gene
- InterPro:
- Blocks:
-
- RNA-binding region RNP-1 (RNA recognition motif)
- Nuclear protein SET
- ProtoNet:
Suggested Antigen Peptide Sequences for SETD1A Gene
- GenScript: Design optimal peptide antigens:
-
- Set1/Ash2 histone methyltransferase complex subunit SET1 (SET1A_HUMAN)
Graphical View of Domain Structure for InterPro Entry
O15047UniProtKB/Swiss-Prot:
SET1A_HUMAN :- Belongs to the class V-like SAM-binding methyltransferase superfamily.
- Family:
-
- Belongs to the class V-like SAM-binding methyltransferase superfamily.
Function for SETD1A Gene
Molecular function for SETD1A Gene
- UniProtKB/Swiss-Prot Function:
- Histone methyltransferase that specifically methylates 'Lys-4' of histone H3, when part of the SET1 histone methyltransferase (HMT) complex, but not if the neighboring 'Lys-9' residue is already methylated. H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation. The non-overlapping localization with SETD1B suggests that SETD1A and SETD1B make non-redundant contributions to the epigenetic control of chromatin structure and gene expression.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=L-lysyl(4)-[histone H3] + 3 S-adenosyl-L-methionine = 3 H(+) + N(6),N(6),N(6)-trimethyl-L-lysyl(4)-[histone H3] + 3 S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:60260, Rhea:RHEA-COMP:15537, Rhea:RHEA-COMP:15547, ChEBI:CHEBI:15378, ChEBI:CHEBI:29969, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:61961; EC=2.1.1.354; Evidence={ECO:0000250|UniProtKB:Q9UPS6};.
Enzyme Numbers (IUBMB) for SETD1A Gene
Phenotypes From GWAS Catalog for SETD1A Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003676 | nucleic acid binding | IEA | -- |
| GO:0003723 | RNA binding | IEA | -- |
| GO:0005515 | protein binding | IPI | 12670868 |
| GO:0008013 | beta-catenin binding | IDA | 22723415 |
| GO:0008134 | transcription factor binding | IPI | 27141965 |
Phenotypes for SETD1A Gene
- MGI mutant phenotypes for SETD1A:
- inferred from 4 alleles
- GenomeRNAi human phenotypes for SETD1A:
Animal Models for SETD1A Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SETD1A - Select products 50% OFF >
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-
OriGene CRISPR knockouts for SETD1A
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SETD1A
-
Santa Cruz Biotechnology (SCBT) CRISPR for SETD1A
miRNA for SETD1A Gene
- miRTarBase miRNAs that target SETD1A
-
- hsa-miR-760 (MIRT036712)
- hsa-miR-18a-3p (MIRT040819)
- hsa-miR-361-5p (MIRT044067)
- hsa-miR-320a (MIRT044797)
- hsa-let-7e-5p (MIRT051709)
- hsa-miR-588 (MIRT696093)
- hsa-miR-4701-5p (MIRT696094)
- hsa-miR-7111-5p (MIRT696095)
- hsa-miR-6870-5p (MIRT696096)
- hsa-miR-5698 (MIRT696097)
- hsa-miR-4723-5p (MIRT696098)
- hsa-miR-3175 (MIRT696099)
- hsa-miR-6878-5p (MIRT696100)
- hsa-miR-3189-5p (MIRT696101)
- hsa-miR-4758-3p (MIRT696102)
- hsa-miR-5699-5p (MIRT696103)
- hsa-miR-4252 (MIRT696104)
- hsa-miR-6846-3p (MIRT696105)
- hsa-miR-324-3p (MIRT696106)
- hsa-miR-1913 (MIRT696107)
- hsa-miR-6764-5p (MIRT696108)
- hsa-miR-1915-3p (MIRT696109)
- hsa-miR-1273g-3p (MIRT696110)
- hsa-miR-6798-5p (MIRT696111)
- hsa-miR-6890-3p (MIRT696112)
- hsa-miR-6794-5p (MIRT696113)
- hsa-miR-4716-3p (MIRT696114)
- hsa-miR-5195-5p (MIRT696115)
- hsa-miR-942-3p (MIRT696116)
- hsa-miR-548g-3p (MIRT696117)
- hsa-miR-548av-3p (MIRT696118)
- hsa-miR-5006-3p (MIRT711583)
- hsa-miR-4446-5p (MIRT711584)
- hsa-miR-4755-5p (MIRT711585)
- hsa-miR-642a-5p (MIRT711586)
- hsa-miR-676-5p (MIRT711587)
- hsa-miR-1236-3p (MIRT711588)
- hsa-miR-6515-3p (MIRT711589)
- hsa-miR-6769b-3p (MIRT711590)
- hsa-miR-4723-3p (MIRT711591)
- hsa-miR-3183 (MIRT711592)
- hsa-miR-2276-5p (MIRT711593)
- hsa-miR-6892-3p (MIRT711594)
- hsa-miR-5003-3p (MIRT711595)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SETD1A
- Browse OriGene Inhibitory RNA Products For SETD1A
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SETD1A
Clone Products
- Applied Biological Materials (abm): Clones for SETD1A - Select products 50% OFF >
- * SETD1A as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for SETD1A
- Addgene plasmids for SETD1A
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SETD1A
Cell Line Products
-
Horizon Cell Lines for SETD1A
No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SETD1A Gene
Localization for SETD1A Gene
Subcellular locations from UniProtKB/Swiss-Prot for SETD1A Gene
- Nucleus speckle. Chromosome. Note=Localizes to a largely non-overlapping set of euchromatic nuclear speckles with SETD1B, suggesting that SETD1A and SETD1B each bind to a unique set of target genes.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 3 |
| plasma membrane | 2 |
| extracellular | 2 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Nuclear speckles (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000790 | nuclear chromatin | IDA | 27141965 |
| GO:0005634 | nucleus | IDA,IMP | 22723415 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005694 | chromosome | IEA | -- |
| GO:0016607 | nuclear speck | IDA | -- |
Pathways & Interactions for SETD1A Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Chromatin organization | ||
| 2 | PKMTs methylate histone lysines | ||
| 3 | Chromatin Regulation / Acetylation | ||
| 4 | Lysine degradation | ||
| 5 | Metabolism | ||
Pathways by source for SETD1A Gene
1 BioSystems pathway for SETD1A Gene
3 Reactome pathways for SETD1A Gene
2 KEGG pathways for SETD1A Gene
1 Cell Signaling Technology pathway for SETD1A Gene
1 GeneTex pathway for SETD1A Gene
Interacting Proteins for SETD1A Gene
Selected Interacting proteins:
O15047-SET1A_HUMAN
ENSP00000262519
for SETD1A Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for SETD1A
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006325 | chromatin organization | IEA | -- |
| GO:0032259 | methylation | IEA | -- |
| GO:0044648 | histone H3-K4 dimethylation | IDA | 25561738 |
| GO:0045652 | regulation of megakaryocyte differentiation | TAS | -- |
| GO:0080182 | histone H3-K4 trimethylation | IDA | 25561738 |
No data available for SIGNOR curated interactions for SETD1A Gene
Drugs & Compounds for SETD1A Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| s-adenosylhomocysteine | Experimental | Pharma | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| s-adenosylmethionine |
|
485-80-3 |
|
Transcripts for SETD1A Gene
mRNA/cDNA for SETD1A Gene
- 1 REFSEQ mRNAs :
- 3 NCBI additional mRNA sequence :
- 3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000262519 5991 nts (view in UCSC)
- ENST00000452917 315 nts (view in UCSC)
- ENST00000640410 718 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SETD1A - Select products 50% OFF >
- * SETD1A CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for SETD1A
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SETD1A
-
Santa Cruz Biotechnology (SCBT) CRISPR for SETD1A
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SETD1A
- Browse OriGene Inhibitory RNA Products For SETD1A
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SETD1A
Clone Products
- Applied Biological Materials (abm): Clones for SETD1A - Select products 50% OFF >
- * SETD1A as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for SETD1A
- Addgene plasmids for SETD1A
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SETD1A
Relevant External Links for SETD1A Gene
- GeneLoc Exon Structure for
- SETD1A
Expression for SETD1A Gene
This gene is overexpressed in Retina (13.0), Peripheral blood mononuclear cells (12.7), CD8 Tcells (12.0), and Testis (8.3).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SETD1A Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SETD1A
SOURCE GeneReport for Unigene cluster for SETD1A Gene:
Hs.297483Evidence on tissue expression from TISSUES for SETD1A Gene
- Liver(4.5)
- Skin(3.1)
- Nervous system(3)
- Muscle(2.9)
- Blood(2.8)
- Intestine(2.7)
- Kidney(2.6)
- Heart(2.5)
- Bone marrow(2.4)
- Lung(2.3)
- Pancreas(2.2)
- Lymph node(2.2)
- Thyroid gland(2.2)
- Stomach(2.2)
- Spleen(2.2)
Primer Products
-
OriGene qPCR primer pairs for SETD1A
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 , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SETD1A Gene
Orthologs for SETD1A Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | SETD1A 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | SETD1A 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | SETD1A 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Setd1a 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | SETD1A 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | SETD1A 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | SETD1A 31 |
|
OneToOne | |
| Zebrafish (Danio rerio) |
Actinopterygii | setd1a 31 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | Set1 31 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | set-2 31 |
|
OneToMany | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | SET1 31 33 |
|
OneToMany | |
| Rice (Oryza sativa) |
Liliopsida | Os.8820 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.7781 31 |
|
OneToMany |
- Species where no ortholog for SETD1A was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chicken (Gallus gallus)
- 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)
- Rat (Rattus norvegicus)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Tropical Clawed Frog (Silurana tropicalis)
- Wheat (Triticum aestivum)
Evolution for SETD1A Gene
- ENSEMBL:
- Gene Tree for SETD1A (if available)
- TreeFam:
- Gene Tree for SETD1A (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for SETD1A: view image
Paralogs for SETD1A Gene
Paralogs for SETD1A Gene
(1) SIMAP similar genes for SETD1A Gene using alignment to 3 proteins:
- SET1A_HUMAN
- C9J2Z9_HUMAN
- L0R6N9_HUMAN
Variants for SETD1A Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SETD1A Gene
| SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 681048 | Likely Benign: not provided | 30,969,465(+) | G/A | INTRON_VARIANT | |
| 709311 | Likely Benign: not provided | 30,966,149(+) | C/T | SYNONYMOUS_VARIANT | |
| 711164 | Benign: not provided | 30,980,612(+) | C/T | SYNONYMOUS_VARIANT | |
| 712178 | Benign: not provided | 30,966,144(+) | G/A | MISSENSE_VARIANT | |
| 719085 | Likely Benign: not provided | 30,965,804(+) | G/A | SYNONYMOUS_VARIANT |
Residual Variation Intolerance Score:
0.741% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
4.02;
60.39% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for SETD1A Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SETD1A Gene
Disorders for SETD1A Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| epilepsy, early-onset, with or without developmental delay |
|
|
| schizophrenia |
|
|
| kleefstra syndrome 2 |
|
|
| myopathy, centronuclear, 1 |
|
|
| cerebellopontine angle meningioma |
|
|
Search SETD1A in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for SETD1A
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for SETD1A Gene
Publications for SETD1A Gene
- CpG-binding protein (CXXC finger protein 1) is a component of the mammalian Set1 histone H3-Lys4 methyltransferase complex, the analogue of the yeast Set1/COMPASS complex. (PMID: 16253997) Lee JH … Skalnik DG (The Journal of biological chemistry 2005) 3 4 23
- Human Sin3 deacetylase and trithorax-related Set1/Ash2 histone H3-K4 methyltransferase are tethered together selectively by the cell-proliferation factor HCF-1. (PMID: 12670868) Wysocka J … Herr W (Genes & development 2003) 2 3 4
- Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9205841) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1997) 2 3 4
- Structural basis for WDR5 interaction (Win) motif recognition in human SET1 family histone methyltransferases. (PMID: 22665483) Dharmarajan V … Cosgrove MS (The Journal of biological chemistry 2012) 3 4
- The plasticity of WDR5 peptide-binding cleft enables the binding of the SET1 family of histone methyltransferases. (PMID: 22266653) Zhang P … Couture JF (Nucleic acids research 2012) 3 4
ExternalLinks
Products for SETD1A Gene
- Custom Antibody ServicesOriGene Antibodies for SETD1A
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for SETD1A
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- Origene shrna, sirna, and RNAi products in human, mouse, rat for SETD1A
- Browse OriGene Inhibitory RNA Products For SETD1A
- OriGene qPCR primer pairs for SETD1A
- OriGene CRISPR knockouts for SETD1A
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For SETD1A
- Sino Biological Human cDNA Clone for SETD1A
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- High-throughput Antibody Production Service
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- Epitope Tag Antibodies & Reporter Protein Antibodies
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- Novus Biologicals Antibodies for SETD1A
- Novus Biologicals proteins for SETD1A
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- Abcam antibodies for SETD1A
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- Invitrogen Antibodies for SETD1A (AFLGC-SETD1A)
- VectorBuilder Custom and pre-made DNA vectors for SETD1A (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for SETD1A (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for SETD1A (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for SETD1A CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for SETD1A
- Addgene plasmids for SETD1A
- antibodies-online: Show 17 available SETD1A Antibodies ranked by validation data
- Compare Top SETD1A Antibodies
- antibodies-online: Search results for available SETD1A related products ranked by validation data
- antibodies-online: Search results for available SETD1A related products ranked by validation data
- Santa Cruz Biotechnology (SCBT) Antibodies for SETD1A
- Search Santa Cruz Biotechnology (SCBT) for SETD1A siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for SETD1A
- Horizon Cell Lines for SETD1A
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SETD1A
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SETD1A
- Search GeneCopoeia for miRNA 3'UTR Target clone products for SETD1A
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SETD1A
- Boster Bio Antibodies for SETD1A
- Browse Boster Bio ELISA Kits
Sources for SETD1A Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB