Aliases for KANSL1 Gene
Aliases for KANSL1 Gene
External Ids for KANSL1 Gene
- HGNC: 24565
- Entrez Gene: 284058
- Ensembl: ENSG00000120071
- OMIM: 612452
- UniProtKB: Q7Z3B3
Previous HGNC Symbols for KANSL1 Gene
- KIAA1267
Previous GeneCards Identifiers for KANSL1 Gene
- GC17M044108
Summaries for KANSL1 Gene
-
This gene encodes a nuclear protein that is a subunit of two protein complexes involved with histone acetylation, the MLL1 complex and the NSL1 complex. The corresponding protein in Drosophila interacts with K(lysine) acetyltransferase 8, which is also a subunit of both the MLL1 and NSL1 complexes. [provided by RefSeq, Jun 2012]
GeneCards Summary for KANSL1 Gene
KANSL1 (KAT8 Regulatory NSL Complex Subunit 1) is a Protein Coding gene. Diseases associated with KANSL1 include Koolen-De Vries Syndrome and Koolen-De Vries Syndrome Due To A Point Mutation. Among its related pathways are Chromatin organization and Pathways Affected in Adenoid Cystic Carcinoma. Gene Ontology (GO) annotations related to this gene include histone acetyltransferase activity (H4-K5 specific) and histone acetyltransferase activity (H4-K16 specific). An important paralog of this gene is KANSL1L.
UniProtKB/Swiss-Prot for KANSL1 Gene
-
As part of the NSL complex it is involved in acetylation of nucleosomal histone H4 on several lysine residues and therefore may be involved in the regulation of transcription.
Additional gene information for KANSL1 Gene
- Monarch Initiative
- Search for KANSL1 at DataMed
- Search for KANSL1 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KANSL1 Gene
Genomics for KANSL1 Gene
GeneHancer (GH) Regulatory Elements for KANSL1 Gene
Promoters and enhancers for KANSL1 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 KANSL1 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for KANSL1 Gene
Genomic Locations for KANSL1 Gene
- chr17:46,029,916-46,225,389
- (GRCh38/hg38)
- Size:
- 195,474 bases
- Orientation:
- Minus strand
- chr17:44,107,282-44,302,740
- (GRCh37/hg19)
- Size:
- 195,459 bases
- Orientation:
- Minus strand
Genomic View for KANSL1 Gene
Genes around KANSL1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 17q21.31 by Entrez Gene
- 17q21.31 by HGNC
- 17q21.31 by Ensembl
KANSL1 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 KANSL1 Gene
Proteins for KANSL1 Gene
-
Protein details for KANSL1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q7Z3B3-KANL1_HUMAN
- Recommended name:
- KAT8 regulatory NSL complex subunit 1
- Protein Accession:
- Q7Z3B3
- A8K5E4
- B3KT49
- I3L4J3
- Q6AW85
- Q8IYH1
- Q9BRH0
- Q9NTE7
- Q9UFT0
- Q9ULF3
Protein attributes for KANSL1 Gene
- Size:
- 1105 amino acids
- Molecular mass:
- 121025 Da
- Quaternary structure:
-
- Component of some MLL1/MLL complex, at least composed of the core components KMT2A/MLL1, ASH2L, HCFC1, WDR5 and RBBP5, as well as the facultative components BAP18, CHD8, E2F6, HSP70, INO80C, KANSL1, LAS1L, MAX, MCRS1, MGA, KAT8/MOF, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9 and TEX10. Component of the NSL complex at least composed of MOF/KAT8, KANSL1, KANSL2, KANSL3, MCRS1, PHF20, OGT1/OGT, WDR5 and HCFC1. Interacts with KAT8; the interaction is direct.
- SequenceCaution:
-
- Sequence=CAH10565.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
Protein Expression for KANSL1 Gene
Post-translational modifications for KANSL1 Gene
Other Protein References for KANSL1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for KANSL1
- Invitrogen Antibodies for KANSL1 (AFLGC-KANSL1)
- antibodies-online: Search results for 8 available KANSL1 Antibodies ranked by validation data
- Compare Top KANSL1 Antibodies
-
Quality Products:
- GeneTex KANSL1 Antibody for KANSL1
-
Boster Bio Antibodies for KANSL1
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for KANSL1
- Origene Custom Protein Services for KANSL1
- Novus Biologicals proteins for KANSL1
- Search GeneTex for Proteins for KANSL1
Assay Products
No data available for DME Specific Peptides for KANSL1 Gene
Domains & Families for KANSL1 Gene
Gene Families for KANSL1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Suggested Antigen Peptide Sequences for KANSL1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for KANSL1 Gene
Function for KANSL1 Gene
Molecular function for KANSL1 Gene
- UniProtKB/Swiss-Prot Function:
- As part of the NSL complex it is involved in acetylation of nucleosomal histone H4 on several lysine residues and therefore may be involved in the regulation of transcription.
Phenotypes From GWAS Catalog for KANSL1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001047 | core promoter binding | IBA | -- |
| GO:0005515 | protein binding | IPI | 15960975 |
| GO:0035035 | histone acetyltransferase binding | IBA | -- |
| GO:0043995 | contributes_to histone acetyltransferase activity (H4-K5 specific) | IDA | 20018852 |
| GO:0043996 | contributes_to histone acetyltransferase activity (H4-K8 specific) | IDA | 20018852 |
Phenotypes for KANSL1 Gene
- MGI mutant phenotypes for KANSL1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for KANSL1:
-
- Effect on mitosis
- Dynamic nuclei (hole, folded or small irregular)
- Moderately decreased NFAT1-GFP nuclear translocation
- Decreased BBC3 mRNA expression
- Decreased CDKN1A mRNA expression
- Increased vaccinia virus (VACV) infection
- Decreased human papilloma virus 16 (HPV16) pseudovirus infection
- Increased gamma-H2AX phosphorylation
- Synthetic lethal with Ras
- Decreased centriole number
- Decreased influenza A H1N1 (A/Hamburg/04/2009) virus numbers
- Decreased influenza A H1N1 (A/WSN/33) virus numbers
- Decreased influenza A/WSN/33 replication
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for KANSL1
-
CRISPR Products
-
OriGene CRISPR knockouts for KANSL1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KANSL1
- genomics-online: gRNA clones - Search results for 53 available KANSL1 gene related products
- Overview of 53 available KANSL1 gene related products
- Applied Biological Materials CRISPR for KANSL1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for KANSL1
- GenScript: Design CRISPR guide RNA sequences for KANSL1
miRNA for KANSL1 Gene
- miRTarBase miRNAs that target KANSL1
-
- hsa-mir-130b-3p (MIRT020287)
- hsa-mir-148a-3p (MIRT025982)
- hsa-mir-106b-5p (MIRT044368)
- hsa-mir-149-5p (MIRT045617)
- hsa-mir-23b-3p (MIRT046344)
- hsa-mir-17-5p (MIRT050951)
- hsa-mir-154-3p (MIRT077365)
- hsa-mir-487a-3p (MIRT077366)
- hsa-mir-513a-3p (MIRT077369)
- hsa-mir-513c-3p (MIRT077370)
- hsa-mir-3606-3p (MIRT077371)
- hsa-mir-130b-5p (MIRT287594)
- hsa-mir-1287-3p (MIRT474983)
- hsa-mir-6780a-5p (MIRT474984)
- hsa-mir-6779-5p (MIRT474985)
- hsa-mir-3689c (MIRT474986)
- hsa-mir-3689b-3p (MIRT474987)
- hsa-mir-3689a-3p (MIRT474988)
- hsa-mir-30b-3p (MIRT474989)
- hsa-mir-1273h-5p (MIRT474990)
- hsa-mir-555 (MIRT474991)
- hsa-mir-6881-5p (MIRT474992)
- hsa-mir-6835-5p (MIRT474993)
- hsa-mir-6825-5p (MIRT474994)
- hsa-mir-6883-5p (MIRT474995)
- hsa-mir-6799-5p (MIRT474996)
- hsa-mir-6785-5p (MIRT474997)
- hsa-mir-4728-5p (MIRT474998)
- hsa-mir-149-3p (MIRT474999)
- hsa-mir-7106-5p (MIRT475000)
- hsa-mir-6871-5p (MIRT475001)
- hsa-mir-6732-5p (MIRT475002)
- hsa-mir-449b-3p (MIRT475003)
- hsa-mir-5683 (MIRT475004)
- hsa-mir-4664-3p (MIRT475005)
- hsa-mir-1180-3p (MIRT475006)
- hsa-mir-5585-3p (MIRT475007)
- hsa-mir-1322 (MIRT475008)
- hsa-mir-1272 (MIRT475009)
- hsa-mir-548g-3p (MIRT475010)
- hsa-mir-4282 (MIRT475011)
- hsa-mir-548f-3p (MIRT475012)
- hsa-mir-548e-3p (MIRT475013)
- hsa-mir-548az-3p (MIRT475014)
- hsa-mir-548ar-3p (MIRT475015)
- hsa-mir-548a-3p (MIRT475016)
- hsa-mir-548x-3p (MIRT475017)
- hsa-mir-548j-3p (MIRT475018)
- hsa-mir-548aq-3p (MIRT475019)
- hsa-mir-548am-3p (MIRT475020)
- hsa-mir-548aj-3p (MIRT475021)
- hsa-mir-548ah-3p (MIRT475022)
- hsa-mir-548ae-3p (MIRT475023)
- hsa-mir-548z (MIRT475024)
- hsa-mir-548h-3p (MIRT475025)
- hsa-mir-548d-3p (MIRT475026)
- hsa-mir-548bb-3p (MIRT475027)
- hsa-mir-548ac (MIRT475028)
- hsa-mir-192-3p (MIRT493438)
- hsa-mir-627-5p (MIRT493439)
- hsa-mir-127-5p (MIRT493440)
- hsa-mir-921 (MIRT493441)
- hsa-mir-3606-5p (MIRT493442)
- hsa-mir-924 (MIRT493443)
- hsa-mir-6806-3p (MIRT493444)
- hsa-mir-3928-5p (MIRT493445)
- hsa-mir-3174 (MIRT493446)
- hsa-mir-155-5p (MIRT493447)
- hsa-mir-365a-3p (MIRT493448)
- hsa-mir-365b-3p (MIRT493449)
- hsa-mir-4762-3p (MIRT556844)
- hsa-mir-4756-3p (MIRT556845)
- hsa-mir-7855-5p (MIRT567098)
- hsa-mir-539-3p (MIRT567099)
- hsa-mir-485-3p (MIRT567100)
- hsa-mir-4524a-3p (MIRT567101)
- hsa-mir-4768-3p (MIRT567102)
- hsa-mir-4700-3p (MIRT567103)
- hsa-mir-4524b-3p (MIRT567104)
- hsa-mir-7111-3p (MIRT627912)
- hsa-mir-6769b-3p (MIRT627913)
- hsa-mir-4723-3p (MIRT627914)
- hsa-mir-3183 (MIRT627915)
- hsa-mir-660-3p (MIRT627916)
- hsa-mir-5193 (MIRT627917)
- hsa-mir-3974 (MIRT627918)
- hsa-mir-384 (MIRT627919)
- hsa-mir-3685 (MIRT627920)
- hsa-mir-4753-3p (MIRT627921)
- hsa-mir-6873-3p (MIRT627922)
- hsa-mir-7975 (MIRT627923)
- hsa-mir-5571-3p (MIRT627924)
- hsa-mir-4789-5p (MIRT627925)
- hsa-mir-6817-3p (MIRT627926)
- hsa-mir-7110-3p (MIRT627927)
- hsa-mir-8067 (MIRT627928)
- hsa-mir-6508-5p (MIRT627929)
- hsa-mir-4528 (MIRT627930)
- hsa-mir-4742-3p (MIRT712994)
- hsa-mir-548av-3p (MIRT712995)
- hsa-mir-521 (MIRT725291)
- hsa-mir-5006-3p (MIRT725292)
- hsa-mir-4755-5p (MIRT725293)
- hsa-mir-211-5p (MIRT725294)
- hsa-mir-204-5p (MIRT725295)
- hsa-mir-623 (MIRT725296)
- hsa-mir-6870-3p (MIRT725297)
- hsa-mir-5088-3p (MIRT725298)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for KANSL1
- Browse OriGene Inhibitory RNA Products For KANSL1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KANSL1
- genomics-online: shRNA clones - Search results for 53 available KANSL1 gene related products
- Overview of 53 available KANSL1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for KANSL1
- Addgene plasmids for KANSL1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for KANSL1
- Applied Biological Materials Clones for KANSL1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for KANSL1 Gene
Localization for KANSL1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for KANSL1 Gene
- Nucleus. Nucleus. Chromosome, centromere, kinetochore.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 3 |
| cytoskeleton | 2 |
- Nucleoplasm (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000123 | histone acetyltransferase complex | IDA | 20018852 |
| GO:0000775 | chromosome, centromeric region | IEA | -- |
| GO:0000776 | kinetochore | IEA | -- |
| GO:0000777 | condensed chromosome kinetochore | IEA | -- |
| GO:0005634 | nucleus | IDA | -- |
Pathways & Interactions for KANSL1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Chromatin organization | ||
| 2 | Pathways Affected in Adenoid Cystic Carcinoma | ||
Pathways by source for KANSL1 Gene
1 BioSystems pathway for KANSL1 Gene
3 Reactome pathways for KANSL1 Gene
Interacting Proteins for KANSL1 Gene
Selected Interacting proteins:
Q7Z3B3-KANL1_HUMAN
ENSP00000262419
for KANSL1 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for KANSL1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006325 | chromatin organization | IEA | -- |
| GO:0043981 | histone H4-K5 acetylation | IDA | 20018852 |
| GO:0043982 | histone H4-K8 acetylation | IDA | 20018852 |
| GO:0043984 | histone H4-K16 acetylation | IDA | 20018852 |
No data available for SIGNOR curated interactions for KANSL1 Gene
Transcripts for KANSL1 Gene
mRNA/cDNA for KANSL1 Gene
- (12) REFSEQ mRNAs :
- (10) Additional mRNA sequences :
- (196) Selected AceView cDNA sequences:
- (35) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000572218 9095 bps (uc010wkb.3)
- ENST00000432791 5343 bps (uc010dav.4)
- ENST00000572904 4973 bps (uc002ikd.4)
- ENST00000574590 5147 bps (uc060gju.1)
- ENST00000638275 5352 bps
Unigene Clusters for KANSL1 Gene
- KAT8 regulatory NSL complex subunit 1:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for KANSL1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KANSL1
- genomics-online: gRNA clones - Search results for 53 available KANSL1 gene related products
- Overview of 53 available KANSL1 gene related products
- Applied Biological Materials CRISPR for KANSL1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for KANSL1
- GenScript: Design CRISPR guide RNA sequences for KANSL1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for KANSL1
- Browse OriGene Inhibitory RNA Products For KANSL1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KANSL1
- genomics-online: shRNA clones - Search results for 53 available KANSL1 gene related products
- Overview of 53 available KANSL1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for KANSL1
- Addgene plasmids for KANSL1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for KANSL1
- Applied Biological Materials Clones for KANSL1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | · | 8c | ^ | 9a | · | 9b | · | 9c | ^ | 10a | · | 10b | · | 10c | ^ | 11a | · | 11b | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 |
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| SP4: | |||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP7: |
Expression for KANSL1 Gene
This gene is overexpressed in Urine (33.3), Peripheral blood mononuclear cells (11.4), CD8 Tcells (9.4), and Heart (7.3).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KANSL1 Gene
NURSA nuclear receptor signaling pathways regulating expression of KANSL1 Gene:
KANSL1SOURCE GeneReport for Unigene cluster for KANSL1 Gene:
Hs.648744mRNA Expression by UniProt/SwissProt for KANSL1 Gene:
Q7Z3B3-KANL1_HUMAN
Tissue specificity:
Expressed in the brain.
Evidence on tissue expression from TISSUES for KANSL1 Gene
- Nervous system(4.8)
- Liver(4.3)
- Blood(4.1)
- Muscle(2.3)
Phenotype-based relationships between genes and organs from Gene ORGANizer for KANSL1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- immune
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- cheek
- chin
- cranial nerve
- ear
- eye
- eyelid
- face
- forehead
- head
- jaw
- larynx
- lip
- mandible
- maxilla
- mouth
- neck
- nose
- outer ear
- pharynx
- skull
- tooth
- vocal cord
Thorax:
- aorta
- breast
- heart
- heart valve
- lung
Abdomen:
- kidney
Pelvis:
- pelvis
- testicle
- ureter
- urethra
- urinary bladder
Limb:
- ankle
- digit
- elbow
- finger
- foot
- hand
- hip
- knee
- lower limb
- shoulder
- toe
- upper limb
- wrist
General:
- blood
- blood vessel
- hair
- peripheral nervous system
- skin
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for KANSL1
-
OriGene qPCR primer pairs and template standards for KANSL1
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for KANSL1 Gene
Orthologs for KANSL1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | KANSL1 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | KANSL1 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | KANSL1 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Kansl1 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Kansl1 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | KANSL1 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | KANSL1 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | KANSL1 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | KANSL1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC100485168 33 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.2848 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | LOC567884 33 |
|
||
| kansl1b 34 |
|
OneToMany | |||
| kansl1a 34 |
|
OneToMany | |||
| KANSL1 (1 of 3) 34 |
|
OneToMany | |||
| fruit fly (Drosophila melanogaster) |
Insecta | wah 34 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToMany |
- Species where no ortholog for KANSL1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- 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)
- bread mold (Neurospora crassa)
- 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 (Oryza sativa)
- 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)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Evolution for KANSL1 Gene
- ENSEMBL:
- Gene Tree for KANSL1 (if available)
- TreeFam:
- Gene Tree for KANSL1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for KANSL1: view image
Paralogs for KANSL1 Gene
(2) SIMAP similar genes for KANSL1 Gene using alignment to 4 proteins:
- KANL1_HUMAN
- I3L233_HUMAN
- I3L243_HUMAN
- I3L4J3_HUMAN
Pseudogenes.org Pseudogenes for KANSL1 Gene
Variants for KANSL1 Gene
| SNP ID | Clin | Chr 17 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1057516026 | uncertain-significance, Intellectual disability syndrome | 46,192,804(-) | G/C | genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant | |
| rs1057518659 | likely-pathogenic, Koolen-de Vries syndrome | 46,171,149(-) | AGTTTGCTCAAAGT/AGT | coding_sequence_variant, frameshift, genic_upstream_transcript_variant, upstream_transcript_variant | |
| rs1060502198 | uncertain-significance, Koolen-de Vries syndrome | 46,172,091(-) | A/G | coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, upstream_transcript_variant | |
| rs1060502199 | uncertain-significance, Koolen-de Vries syndrome | 46,172,028(-) | T/G | coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, upstream_transcript_variant | |
| rs11079733 | benign, Intellectual disability syndrome | 46,192,598(-) | T/A | 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant |
Residual Variation Intolerance Score:
76.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
15.71;
97.32% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for KANSL1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KANSL1 Gene
Disorders for KANSL1 Gene
(5) MalaCards diseases for KANSL1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| koolen-de vries syndrome |
|
|
| koolen-de vries syndrome due to a point mutation |
|
|
| chromosome 17q21.31 duplication syndrome |
|
|
| christianson syndrome |
|
|
| speech disorder |
|
|
Search KANSL1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for KANSL1
No data available for UniProtKB/Swiss-Prot and Genatlas for KANSL1 Gene
Publications for KANSL1 Gene
- Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10574462) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1999) 2 3 4 58
- Structural basis for MOF and MSL3 recruitment into the dosage compensation complex by MSL1. (PMID: 21217699) Kadlec J … Akhtar A (Nature structural & molecular biology 2011) 3 4 58
- Subunit composition and substrate specificity of a MOF-containing histone acetyltransferase distinct from the male-specific lethal (MSL) complex. (PMID: 20018852) Cai Y … Conaway RC (The Journal of biological chemistry 2010) 3 4 58
- Nuclear pore components are involved in the transcriptional regulation of dosage compensation in Drosophila. (PMID: 16543150) Mendjan S … Akhtar A (Molecular cell 2006) 3 4 58
- Physical association and coordinate function of the H3 K4 methyltransferase MLL1 and the H4 K16 acetyltransferase MOF. (PMID: 15960975) Dou Y … Roeder RG (Cell 2005) 3 4 58
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Sources for KANSL1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD