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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] See more...
Aliases for KANSL1 Gene
Aliases for KANSL1 Gene
External Ids for KANSL1 Gene
- HGNC: 24565
- NCBI Entrez Gene: 284058
- Ensembl: ENSG00000120071
- OMIM®: 612452
- UniProtKB/Swiss-Prot: 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 Summary 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
- HGNC (24565)
- NCBI Entrez Gene (284058)
- Ensembl (ENSG00000120071)
- OMIM® (612452)
- UniProtKB/Swiss-Prot (Q7Z3B3)
- Open Targets Platform(ENSG00000120071)
- Monarch Initiative
- Search for KANSL1 at DataMed
- Search for KANSL1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KANSL1 Gene
Genomics for KANSL1 Gene
GeneHancer (GH) Regulatory Elements Pubs
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 the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KANSL1
Genomic Locations for KANSL1 Gene
Latest Assembly
- chr17:46,027,335-46,225,389
- (GRCh38/hg38)
- Size:
- 198,055 bases
- Orientation:
- Minus strand
Previous Assembly
- chr17:44,107,282-44,302,733
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 195,452 bases
- Orientation:
- Minus strand
- chr17:44,107,282-44,302,733
- (GRCh37/hg19 by Ensembl)
- Size:
- 195,452 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 HGNC
- 17q21.31 by Entrez Gene
- 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=Truncated N-terminus.; Evidence={ECO:0000305};
- Miscellaneous:
-
- [Isoform 2]: May be due to an intron retention.
Protein Expression for KANSL1 Gene
Post-translational modifications for KANSL1 Gene
Other Protein References for KANSL1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- Novus Biologicals Antibodies for KANSL1
- Invitrogen Antibodies for KANSL1 (AFLGC-KANSL1)
-
Biorbyt antibodies for KANSL1
-
Custom Antibody ServicesProSci Antibodies for KANSL1
Protein products for research
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for KANSL1
- Origene Custom Protein Services for KANSL1
- Novus Biologicals proteins for KANSL1
Assay products for research
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:
-
- MLL1/MLL complex subunit KIAA1267 (K1267_HUMAN)
No data available for Graphical View of Domain Structure and 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:0005515 | protein binding | IPI | 15960975 |
| GO:0035035 | histone acetyltransferase binding | IBA | 21873635 |
| GO:0043995 | histone acetyltransferase activity (H4-K5 specific) | IBA | -- |
| GO:0043996 | histone acetyltransferase activity (H4-K8 specific) | IBA | -- |
| GO:0046972 | histone acetyltransferase activity (H4-K16 specific) | IBA | -- |
Phenotypes for KANSL1 Gene
- MGI mutant phenotypes for KANSL1:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for KANSL1:
-
- Increased gamma-H2AX phosphorylation
- Increased vaccinia virus (VACV) infection
- Synthetic lethal with Ras
- Decreased human papilloma virus 16 (HPV16) pseudovirus infection
- Decreased influenza A/WSN/33 replication
- Increased mitotic delay (prometaphase or metaphase alignment problems, MAP)
- Weakly decreased NFAT1-GFP nuclear translocation
- Decreased centriole number
- Decreased influenza A H1N1 (A/Hamburg/04/2009) virus numbers
- Decreased influenza A H1N1 (A/WSN/33) virus numbers
- Many micronuclei (grape)
- Increased CDKN1A mRNA expression
- Increased BBC3 mRNA expression
Animal Models for KANSL1 Gene
- MGI Knock Outs for KANSL1:
-
- Kansl1 Kansl1<tm1b(EUCOMM)Hmgu>
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for KANSL1 - Starting at $85 >
- * KANSL1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for KANSL1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KANSL1
-
Santa Cruz Biotechnology (SCBT) CRISPR 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 for research
Inhibitory RNAs for research
- 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
Clone products for research
- Applied Biological Materials (abm): Clones for KANSL1 - Starting at $45 >
- * KANSL1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- 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
No data available for Enzyme Numbers (IUBMB) , 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 |
| plasma membrane | 1 |
| extracellular | 1 |
| mitochondrion | 1 |
- Nucleoplasm (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000123 | histone acetyltransferase complex | IEA,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
- 4 REFSEQ mRNAs :
- 12 NCBI additional mRNA sequence :
- 36 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000262419 5309 nts (view in UCSC)
- ENST00000432791 5574 nts (view in UCSC)
- ENST00000571698 2276 nts (view in UCSC)
- ENST00000572218 9095 nts (view in UCSC)
- ENST00000572904 4973 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for KANSL1 - Starting at $85 >
- * KANSL1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for KANSL1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KANSL1
-
Santa Cruz Biotechnology (SCBT) CRISPR for KANSL1
miRNA products for research
Inhibitory RNAs for research
- 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
Clone products for research
- Applied Biological Materials (abm): Clones for KANSL1 - Starting at $45 >
- * KANSL1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- 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
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP4: | |||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP7: |
Relevant External Links for KANSL1 Gene
- GeneLoc Exon Structure for
- KANSL1
Expression for KANSL1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Thyroid (Endocrine System)
-
Gall Bladder (Hepatobiliary System)
-
Esophagus (Gastrointestinal Tract)
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KANSL1
SOURCE 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(4.4)
- Blood(4.3)
- Muscle(2.7)
- Skin(2.4)
- Thyroid gland(2.2)
- Kidney(2)
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 for research
-
OriGene qPCR primer pairs for KANSL1
-
OriGene qPCR primer pairs and template standards for KANSL1
Gene Expression Assays for research
No data available for 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 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | KANSL1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | KANSL1 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Kansl1 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Kansl1 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | KANSL1 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | KANSL1 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | KANSL1 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | KANSL1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100485168 30 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.2848 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | LOC567884 30 |
|
||
| kansl1b 31 |
|
OneToMany | |||
| kansl1a 31 |
|
OneToMany | |||
| KANSL1 (1 of 3) 31 |
|
OneToMany | |||
| Fruit Fly (Drosophila melanogaster) |
Insecta | wah 31 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
- Species where no ortholog for KANSL1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 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)
- 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
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KANSL1 Gene
| SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 323715 | Benign: Syndromic intellectual disability; MAPT-Related Spectrum Disorders | 46,027,249(-) |
G/. NM_005910.5(MAPT):c.*3079= |
NO_SEQUENCE_ALTERATION | |
| 803431 | Benign: Koolen-de Vries syndrome | 46,067,627(-) |
G/. NM_015443.4(KANSL1):c.1574= (p.Pro525=) |
NO_SEQUENCE_ALTERATION | |
| 833548 | Likely Benign: Koolen-de Vries syndrome | 46,039,111(-) |
G/A NM_015443.4(KANSL1):c.2308C>T (p.Arg770Cys) |
MISSENSE | |
| 833689 | Likely Benign: Koolen-de Vries syndrome | 46,171,202(-) |
C/G NM_015443.4(KANSL1):c.942G>C (p.Glu314Asp) |
MISSENSE | |
| 833691 | Likely Benign: Koolen-de Vries syndrome | 46,170,864(-) |
T/C NM_015443.4(KANSL1):c.1280A>G (p.His427Arg) |
MISSENSE |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
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 Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KANSL1 Gene
Disorders for KANSL1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| koolen-de vries syndrome |
|
|
| koolen-de vries syndrome due to a point mutation |
|
|
| disease of mental health |
|
|
| alacrima, achalasia, and mental retardation syndrome |
|
|
| chromosome 17q21.31 duplication syndrome |
|
|
Search KANSL1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
KANL1_HUMAN- Koolen-De Vries syndrome (KDVS) [MIM:610443]: An autosomal dominant, multisystem disorder characterized by hypotonia, developmental delay, moderate to severe intellectual disability, and distinctive dysmorphic features including tall, broad forehead, long face, upslanting palpebral fissures, epicanthal folds, tubular nose with bulbous nasal tip, and large ears. Expressive language development is particularly impaired compared with receptive language or motor skills. Additional features include social and friendly behavior, epilepsy, musculoskeletal anomalies, congenital heart defects, urogenital malformations, and ectodermal anomalies. {ECO:0000269 PubMed:22544363, ECO:0000269 PubMed:22544367, ECO:0000269 PubMed:26424144}. Note=The disease is caused by variants affecting the gene represented in this entry.
Additional Disease Information for KANSL1
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for KANSL1 Gene
Publications for KANSL1 Gene
- Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype. (PMID: 22544367) Zollino M … Marangi G (Nature genetics 2012) 3 4 74
- 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
- Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients. (PMID: 26424144) Zollino M … Zackai E (Journal of medical genetics 2015) 3 4
- Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. (PMID: 22544363) Koolen DA … de Vries BB (Nature genetics 2012) 3 4
- 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
ExternalLinks
Products for KANSL1 Gene
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- Addgene plasmids for KANSL1
- antibodies-online: Show 15 available KANSL1 Antibodies ranked by validation data
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- Browse Santa Cruz Biotechnology (SCBT) Antibodies
- Search Santa Cruz Biotechnology (SCBT) for KANSL1 siRNA/shRNA
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- Custom Antibody ServicesProSci Antibodies for KANSL1
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- Browse GeneCopoeia Cell Lines
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Sources for KANSL1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Mar-2021)
- (7) GeneLoc
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