1. Gene
  2. KANSL1 - KAT8 regulatory NSL complex subunit 1 Gene

KANSL1 - KAT8 regulatory NSL complex subunit 1 Gene

Homo sapiens

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

Gene ID: 284058 | Gene type: protein coding

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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
15960975 GOA
Biological Process GO Annotation Evidence Reference Source
involved in regulation of mitochondrial transcription IDA
IDA: Inferred from direct assay
27768893 GOA
Cellular Component GO Annotation Evidence Reference 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

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