KANSL1 - KAT8 regulatory NSL complex subunit 1 Gene
Also Known as KDVS; NSL1; MSL1v1; CENP-36; hMSL1v1; KIAA1267
Species: Homo sapiens
About KANSL1
This gene has 36 transcripts (splice variants), 1 gene allele, 226 orthologues, 1 paralogue and is associated with 4 phenotypes. Ubiquitous expression in testis (RPKM 12.3), ovary (RPKM 9.4) and 25 other tissues.
Summary
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 encoded protein has been implicated in a variety of cellular processes including enhancer regulation, cell proliferation, and Mitosis. Mutations in this gene are associated with Koolen-de Vries Syndrome. [provided by RefSeq, May 2022]
KANSL1 Products (26)
| mRNA | Protein | Name |
|---|---|---|
| NM_001193465.2 | NP_001180394.1 | KAT8 regulatory NSL complex subunit 1 isoform 2 |
| NM_001193466.2 | NP_001180395.1 | KAT8 regulatory NSL complex subunit 1 isoform 1 |
| NM_001379198.1 | NP_001366127.1 | KAT8 regulatory NSL complex subunit 1 isoform 1 |
| NM_001405854.1 | NP_001392783.1 | KAT8 regulatory NSL complex subunit 1 isoform 1 |
| NM_001405855.1 | NP_001392784.1 | KAT8 regulatory NSL complex subunit 1 isoform 1 |
| NM_001405856.1 | NP_001392785.1 | KAT8 regulatory NSL complex subunit 1 isoform 2 |
| NM_001405857.1 | NP_001392786.1 | KAT8 regulatory NSL complex subunit 1 isoform 2 |
| NM_001405858.1 | NP_001392787.1 | KAT8 regulatory NSL complex subunit 1 isoform 2 |
| NM_001405859.1 | NP_001392788.1 | KAT8 regulatory NSL complex subunit 1 isoform 3 |
| NM_001405860.1 | NP_001392789.1 | KAT8 regulatory NSL complex subunit 1 isoform 3 |
| NM_001405861.1 | NP_001392790.1 | KAT8 regulatory NSL complex subunit 1 isoform 4 |
| NM_001405872.1 | NP_001392801.1 | KAT8 regulatory NSL complex subunit 1 isoform 5 |
| NM_001405873.1 | NP_001392802.1 | KAT8 regulatory NSL complex subunit 1 isoform 5 |
| NM_001405874.1 | NP_001392803.1 | KAT8 regulatory NSL complex subunit 1 isoform 5 |
| NM_001405875.1 | NP_001392804.1 | KAT8 regulatory NSL complex subunit 1 isoform 6 |
| NM_001405876.1 | NP_001392805.1 | KAT8 regulatory NSL complex subunit 1 isoform 6 |
| NM_001405877.1 | NP_001392806.1 | KAT8 regulatory NSL complex subunit 1 isoform 6 |
| NM_001405878.1 | NP_001392807.1 | KAT8 regulatory NSL complex subunit 1 isoform 6 |
| NM_001405879.1 | NP_001392808.1 | KAT8 regulatory NSL complex subunit 1 isoform 7 |
| NM_001405880.1 | NP_001392809.1 | KAT8 regulatory NSL complex subunit 1 isoform 7 |
| NM_001405881.1 | NP_001392810.1 | KAT8 regulatory NSL complex subunit 1 isoform 8 |
| NM_001405882.1 | NP_001392811.1 | KAT8 regulatory NSL complex subunit 1 isoform 9 |
| NM_001405883.1 | NP_001392812.1 | KAT8 regulatory NSL complex subunit 1 isoform 10 |
| NM_001405884.1 | NP_001392813.1 | KAT8 regulatory NSL complex subunit 1 isoform 11 |
| NM_001405885.1 | NP_001392814.1 | KAT8 regulatory NSL complex subunit 1 isoform 12 |
| NM_015443.4 | NP_056258.1 | KAT8 regulatory NSL complex subunit 1 isoform 1 |
| Molecular Function GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
15960975 | GOA |
| Biological Process GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| involved in regulation of mitochondrial transcription |
IDA
IDA: Inferred from direct assay
|
27768893 | GOA |
| Cellular Component GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| part of MLL1 complex |
IDA
IDA: Inferred from direct assay
|
15960975 | GOA |
| part of NSL complex |
IDA
IDA: Inferred from direct assay
|
20018852 | GOA |
| part of histone acetyltransferase complex |
IDA
IDA: Inferred from direct assay
|
20018852 | GOA |
| located in mitochondrion |
IDA
IDA: Inferred from direct assay
|
27768893 | GOA |
KANSL1 Protein Structure
PEHE: PEHE domain (885 - 1035)
- 0
- 200
- 400
- 600
- 800
- 1000
- 1105 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
KAT8 regulatory NSL complex subunit 1 |
|
KANSL1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | Verweise |
|---|---|---|---|---|---|---|---|
|
Intra
|
KANSL1 | Q7Z3B3 | CCDC136 | Homo sapiens | Q96JN2-2 | 25416956 | |
|
Intra
|
KANSL1 | Q7Z3B3 | CCDC136 | Homo sapiens | Q96JN2-2 | 25416956 | |
|
Intra
|
KANSL1 | Q7Z3B3 | NECAB2 | Homo sapiens | Q7Z6G3-2 | 25416956 | |
|
Intra
|
KANSL1 | Q7Z3B3 | NECAB2 | Homo sapiens | Q7Z6G3-2 | 25416956 | |
|
Intra
|
KANSL1 | Q7Z3B3 | NUTM1 | Homo sapiens | Q86Y26 | 25416956 | |
|
Intra
|
KANSL1 | Q7Z3B3 | NUTM1 | Homo sapiens | Q86Y26 | 25416956 | |
|
Intra
|
KANSL1 | Q7Z3B3 | TFIP11 | Homo sapiens | Q9UBB9 | 31515488 | |
|
Intra
|
KANSL1 | Q7Z3B3 | CDR2 | Homo sapiens | Q01850 | 25416956 | |
|
Intra
|
KANSL1 | Q7Z3B3 | KIFC3 | Homo sapiens | Q9BVG8 | 25416956 | |
|
Intra
|
KANSL1 | Q7Z3B3 | KIFC3 | Homo sapiens | Q9BVG8 | 25416956 | |
|
Intra
|
KANSL1 | Q7Z3B3 | KIFC3 | Homo sapiens | Q9BVG8 | 25416956 | |
|
Intra
|
KANSL1 | Q7Z3B3 | PNMA1 | Homo sapiens | Q8ND90 | 25416956 | |
|
Intra
|
KANSL1 | Q7Z3B3 | PNMA1 | Homo sapiens | Q8ND90 | 25416956 | |
|
Intra
|
KANSL1 | Q7Z3B3 | NUP62 | Homo sapiens | P37198 | 21516116 | |
|
Intra
|
KANSL1 | Q7Z3B3 | NUP62 | Homo sapiens | P37198 | 25416956 | |
|
Intra
|
KANSL1 | Q7Z3B3 | TRAF4 | Homo sapiens | Q9BUZ4 | 25416956 | |
|
Intra
|
KANSL1 | Q7Z3B3 | TRAF4 | Homo sapiens | Q9BUZ4 | 25416956 | |
|
Intra
|
KANSL1 | Q7Z3B3 | CDC5L | Homo sapiens | Q99459 | 17043677 | |
|
Intra
|
KANSL1 | Q7Z3B3 | SPAG5 | Homo sapiens | Q96R06 | 25416956 | |
|
Intra
|
KANSL1 | Q7Z3B3 | SPAG5 | Homo sapiens | Q96R06 | 25416956 | |
|
Intra
|
KANSL1 | Q7Z3B3 | WDR5 | Homo sapiens | P61964 | 24788516 | |
|
Intra
|
KANSL1 | Q7Z3B3 | WDR5 | Homo sapiens | P61964 | 24788516 | |
|
Intra
|
KANSL1 | Q7Z3B3 | GOLGA2 | Homo sapiens | Q08379 | 21516116 | |
|
Intra
|
KANSL1 | Q7Z3B3 | GOLGA2 | Homo sapiens | Q08379 | 25416956 | |
|
Intra
|
KANSL1 | Q7Z3B3 | GOLGA2 | Homo sapiens | Q08379 | 25416956 | |
|
Intra
|
KANSL1 | Q7Z3B3 | TRIM27 | Homo sapiens | P14373 | 25416956 | |
|
Intra
|
KANSL1 | Q7Z3B3 | TRIM27 | Homo sapiens | P14373 | 25416956 | |
|
Intra
|
KANSL1 | Q7Z3B3 | KRT15 | Homo sapiens | P19012 | 25416956 | |
|
Intra
|
KANSL1 | Q7Z3B3 | KRT15 | Homo sapiens | P19012 | 25416956 | |
|
Intra
|
KANSL1 | Q7Z3B3 | CALCOCO2 | Homo sapiens | Q13137 | 31515488 | |
|
Intra
|
KANSL1 | Q7Z3B3 | CALCOCO2 | Homo sapiens | Q13137 | 25416956 | |
|
Intra
|
KANSL1 | Q7Z3B3 | CEP70 | Homo sapiens | Q8NHQ1 | 25416956 | |
|
Intra
|
KANSL1 | Q7Z3B3 | CEP70 | Homo sapiens | Q8NHQ1 | 25416956 | |
|
Intra
|
KANSL1 | Q7Z3B3 | CEP70 | Homo sapiens | Q8NHQ1 | 25416956 | |
|
Intra
|
KANSL1 | Q7Z3B3 | CCDC85B | Homo sapiens | Q15834 | 16189514 | |
|
Intra
|
KANSL1 | Q7Z3B3 | HOOK2 | Homo sapiens | Q96ED9 | 25416956 | |
|
Intra
|
KANSL1 | Q7Z3B3 | HOOK2 | Homo sapiens | Q96ED9 | 21516116 | |
|
Intra
|
KANSL1 | Q7Z3B3 | MAGEA12 | Homo sapiens | P43365 | 25416956 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Koolen-De Vries Syndrome |
|
|
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
|
| Chromosome 17q21.31 Duplication Syndrome |
|
|
| Myeloid Leukemia Associated With Down Syndrome |
|
|
| Hepatic Adenomas, Familial |
|
|
| Epilepsy |
|
|
| Christianson Syndrome |
|
|
| Mowat-Wilson Syndrome |
|
|
| Myeloproliferative Syndrome, Transient |
|
|
| Pitt-Hopkins Syndrome |
|
|
| Supranuclear Palsy, Progressive, 1 |
|
|
| Meningioma, Familial |
|
|
| Williams-Beuren Syndrome |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Bos taurus | KANSL1 | VGNC | VGNC:30392 |
| Felis catus | KANSL1 | VGNC | VGNC:63018 |
| Mus musculus | KANSL1 | MGD | MGI:1923969 |
| Canis familiaris | KANSL1 | VGNC | VGNC:55614 |
| Rattus norvegicus | KANSL1 | RGD | RGD:1311429 |
| Macaca mulatta | KANSL1 | VGNC | VGNC:73900 |
| Others | KANSL1 | NCBI |