KANSL1 - KAT8 regulatory NSL complex subunit 1 Gene

Also Known as KDVS; NSL1; MSL1v1; CENP-36; hMSL1v1; KIAA1267

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 284058

About KANSL1

Cytogenetic location: 17q21.31 Genomic coordinates (GRCh38): 17:46,029,916-46,225,367 (from NCBI)

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
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

KANSL1 Protein Structure

PEHE

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

  • MLL1/MLL complex subunit KANSL1

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
Y2H
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
Y2H
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
ITC
24788516
Intra
KANSL1 Q7Z3B3 GOLGA2 Homo sapiens Q08379
Y2H
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
Y2H
21516116
Intra
KANSL1 Q7Z3B3 MAGEA12 Homo sapiens P43365 25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Koolen-De Vries Syndrome
  • KDVS

  • 17q21.31 Microdeletion Syndrome

  • Microdeletion 17q21.31 Syndrome

  • Chromosome 17q21.31 Deletion Syndrome

  • Koolen De Vries Syndrome

  • Kansl1-Related Intellectual Disability Syndrome

  • Chromosome 17q21.31 Microdeletion Syndrome

  • Monosomy 17q21.31

  • 17q21.31 Deletion Syndrome

  • Koolen Syndrome

  • Del(17)(Q21.31)

Koolen-De Vries Syndrome Due To A Point Mutation
Chromosome 17q21.31 Duplication Syndrome
  • 17q21.31 Microduplication Syndrome

  • Trisomy 17q21.31

  • Dup(17)(Q21.31)

Myeloid Leukemia Associated With Down Syndrome
Hepatic Adenomas, Familial
  • Hepatic Adenoma, Somatic

  • Familial Hepatic Adenoma

  • Familial Liver Cell Adenomas

  • Liver Cell Adenomas, Familial

  • Hepatic Adenomas Familial

  • HEPAF

  • Ha

  • Hepatocellular Adenomas

  • Hepatocellular Adenoma

Epilepsy
  • Epilepsy Syndrome

  • Epileptic Syndrome

  • Epilepsies

  • Symptomatic Epilepsies

  • Post Traumatic Epilepsy

  • Traumatic Epilepsy

  • Traumatic Epileptic

  • Epilepsy Due To Hippocampal Sclerosis

  • Epilepsy With Ammon'S Horn Sclerosis

  • Epilepsy Due To Cortical Dysplasia

  • Epilepsy Due To Neuronal Migration Disorders

Christianson Syndrome
  • X-Linked Angelman-Like Syndrome

  • X-Linked Intellectual Disability, South African Type

  • X-Linked Intellectual Disability-Craniofacial Dysmorphism-Epilepsy-Ophthalmoplegia-Cerebellar Atrophy Syndrome

  • Mental Retardation, Microcephaly, Epilepsy, And Ataxia Syndrome

  • Mental Retardation, X-Linked Syndromic, Christianson Type

  • Mrxsch

  • Angelman-Like Syndrome X-Linked

  • Intellectual Disability Microcephaly Epilepsy And Ataxia Syndrome

  • Intellectual Disability X-Linked Syndromic Christianson Type

  • Mrxs Christianson

  • X-Linked Intellectual Disability - Craniofacial Dysmorphism - Epilepsy - Ophthalmoplegia - Cerebellar Atrophy

  • Angelman-Like Syndrome, X-Linked

  • Intellectual Deficit, X-Linked, South African Type

  • Mental Retardation X-Linked, South African Type

  • Mental Retardation, X-Linked, Syndromic, Christianson Type

Mowat-Wilson Syndrome
  • MOWS

  • Microcephaly, Mental Retardation, And Distinct Facial Features, With Or Without Hirschsprung Disease

  • Hirschsprung Disease-Mental Retardation Syndrome

  • Mowat-Wilson Syndrome Due To Monosomy 2q22

  • Hirschsprung Disease Mental Retardation Syndrome

  • Microcephaly, Mental Retardation, And Distinct Facial Featrues, With Or Without Hirschprung Disease

  • Hirschsprung Disease - Intellectual Disability Syndrome

  • Hirschsprung Disease Intellectual Disability Syndrome

  • Intellectual Disability, Microcephaly, And Distinct Facial Features With Or Without Hirschsprung Disease

  • Mws

  • Hirschsprung Disease-Intellectual Disability Syndrome

  • Hirschsprung Disease And Intellectual Disability Due To 2q22 Microdeletion

  • Hirschsprung Disease And Intellectual Disability Due To Del(2)(Q22)

  • Hirschsprung Disease And Intellectual Disability Due To Monosomy 2q22

  • Mowat-Wilson Syndrome Due To 2q22 Microdeletion

  • Mowat-Wilson Syndrome Due To Del(2)Q(22)

  • Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation

  • Hirschsprung Disease And Intellectual Disability Due To A Zeb2 Point Mutation

Myeloproliferative Syndrome, Transient
  • Transient Abnormal Myelopoiesis

  • Transient Myeloproliferative Syndrome

  • Transient Myeloproliferative Disease

  • Mst

  • Tam

  • Leukemia, Transient, Of Down Syndrome

  • Tmd

  • Leukemia, Transient

  • Transient Leukemia

  • Transient Leukemia Of Down Syndrome

Pitt-Hopkins Syndrome
  • PTHS

  • Encephalopathy, Severe Epileptic, With Autonomic Dysfunction

  • Mental Retardation, Syndromal, With Intermittent Hyperventilation

  • Intellectual Disability, Wide Mouth, Distinctive Facial Features, And Intermittent Hyperventilation Followed By Apnea

  • Pitt Hopkins Syndrome

  • Phs

  • Encephalopathy Severe Epileptic With Autonomic Dysfunction

Supranuclear Palsy, Progressive, 1
  • Progressive Supranuclear Palsy

  • Steele-Richardson-Olszewski Syndrome

  • Supranuclear Palsy, Progressive

  • Progressive Supranuclear Ophthalmoplegia

  • Psp

  • PSNP1

  • Familial Progressive Supranuclear Palsy

  • Richardson'S Syndrome

  • Psp Syndrome

  • Progressive Supranuclear Palsy 1

  • Supranuclear Palsy Progressive

  • Ophthalmoplegia, Supranuclear, Progressive

  • Steele-Richardson-Olszewksi Syndrome

Meningioma, Familial
  • Meningioma

  • Familial Meningioma

  • Meningioma, Familial, Susceptibility To

  • Meningeal Neoplasm

  • Meningeal Neoplasms

  • Meningiomas

  • Meningioma, Nf2-Related, Somatic

  • Meningioma, Sis-Related

  • Meningothelial Cell Tumor

  • Neoplasm Of The Meninges

  • Primary Meningeal Tumor

  • Familial Multiple Meningioma

  • MNGMA

  • Meningioma, Benign, No Icd-O Subtype

  • Intracranial Meningioma

  • Meningothelial Cell Neoplasm

  • Supratentorial Meningioma

  • Primary Neoplasm Of Spinal Meninges

  • Benign Intracranial Meningioma

  • Benign Meningioma

  • Meningeal Tumours

  • Meningeal Sarcoma Of Unspecified Site

  • Meningothelial Sarcoma Of Unspecified Site

Williams-Beuren Syndrome
  • Williams Syndrome

  • WBS

  • Wms

  • Deletion 7q11.23

  • Monosomy 7q11.23

  • Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb

  • Fanconi Schlesinger Syndrome

  • Beuren Syndrome

  • Elfin Facies Syndrome

  • Elfin Facies With Hypercalcemia

  • Hypercalcemia-Supravalvar Aortic Stenosis

  • Ws

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

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