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  2. KANSL1 - KAT8 regulatory NSL complex subunit 1 Gene

KANSL1 - KAT8 regulatory NSL complex subunit 1 Gene

中文名称:KAT8 监管 NSL 复杂亚基 1

种属: Homo sapiens

同用名: KDVS; NSL1; MSL1v1; CENP-36; hMSL1v1; KIAA1267

基因 ID: 284058 | 基因类型: protein coding

关于 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.

功能概要

该基因编码一种核蛋白,它是与组蛋白乙酰化有关的两个蛋白复合物、MLL1 复合物和 NSL1 复合物的亚基。编码的蛋白质涉及多种细胞过程,包括增强子调节、细胞增殖和有丝分裂。该基因的突变与 Koolen-de Vries 综合症有关。[RefSeq 提供,2022 年 5 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
15960975 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in regulation of mitochondrial transcription IDA
IDA: 通过直接分析推断
27768893 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of MLL1 complex IDA
IDA: 通过直接分析推断
15960975 GOA
part of NSL complex IDA
IDA: 通过直接分析推断
20018852 GOA
part of histone acetyltransferase complex IDA
IDA: 通过直接分析推断
20018852 GOA
located in mitochondrion IDA
IDA: 通过直接分析推断
27768893 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

KANSL1 蛋白结构

PEHE

PEHE: PEHE domain (885 - 1035)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1105 a.a.
蛋白主名 其他名称

KAT8 regulatory NSL complex subunit 1

MLL1/MLL complex subunit KANSL1

KANSL1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra KANSL1 Q7Z3B3 CCDC136 Homo sapiens Q96JN2-2
Y2H Array
25416956
Intra KANSL1 Q7Z3B3 CCDC136 Homo sapiens Q96JN2-2
Validated Y2H
25416956
Intra KANSL1 Q7Z3B3 NECAB2 Homo sapiens Q7Z6G3-2
Y2H Prey Pooling
25416956
Intra KANSL1 Q7Z3B3 NECAB2 Homo sapiens Q7Z6G3-2
Y2H Array
25416956
Intra KANSL1 Q7Z3B3 NUTM1 Homo sapiens Q86Y26
Validated Y2H
25416956
Intra KANSL1 Q7Z3B3 NUTM1 Homo sapiens Q86Y26
Y2H Array
25416956
Intra KANSL1 Q7Z3B3 TFIP11 Homo sapiens Q9UBB9
Y2H Array
31515488
Intra KANSL1 Q7Z3B3 CDR2 Homo sapiens Q01850
Y2H Prey Pooling
25416956
Intra KANSL1 Q7Z3B3 KIFC3 Homo sapiens Q9BVG8
Validated Y2H
25416956
Intra KANSL1 Q7Z3B3 KIFC3 Homo sapiens Q9BVG8
Y2H Array
25416956
Intra KANSL1 Q7Z3B3 KIFC3 Homo sapiens Q9BVG8
Y2H Prey Pooling
25416956
Intra KANSL1 Q7Z3B3 PNMA1 Homo sapiens Q8ND90
Y2H Prey Pooling
25416956
Intra KANSL1 Q7Z3B3 PNMA1 Homo sapiens Q8ND90
Validated Y2H
25416956
Intra KANSL1 Q7Z3B3 NUP62 Homo sapiens P37198
Y2H
21516116
Intra KANSL1 Q7Z3B3 NUP62 Homo sapiens P37198
Y2H Array
25416956
Intra KANSL1 Q7Z3B3 TRAF4 Homo sapiens Q9BUZ4
Y2H Array
25416956
Intra KANSL1 Q7Z3B3 TRAF4 Homo sapiens Q9BUZ4
Validated Y2H
25416956
Intra KANSL1 Q7Z3B3 CDC5L Homo sapiens Q99459
Y2H
17043677
Intra KANSL1 Q7Z3B3 SPAG5 Homo sapiens Q96R06
Y2H Array
25416956
Intra KANSL1 Q7Z3B3 SPAG5 Homo sapiens Q96R06
Y2H Prey Pooling
25416956
Intra KANSL1 Q7Z3B3 WDR5 Homo sapiens P61964
X-Ray Diffraction
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
Validated Y2H
25416956
Intra KANSL1 Q7Z3B3 GOLGA2 Homo sapiens Q08379
Y2H Array
25416956
Intra KANSL1 Q7Z3B3 TRIM27 Homo sapiens P14373
Y2H Array
25416956
Intra KANSL1 Q7Z3B3 TRIM27 Homo sapiens P14373
Y2H Prey Pooling
25416956
Intra KANSL1 Q7Z3B3 KRT15 Homo sapiens P19012
Y2H Prey Pooling
25416956
Intra KANSL1 Q7Z3B3 KRT15 Homo sapiens P19012
Y2H Array
25416956
Intra KANSL1 Q7Z3B3 CALCOCO2 Homo sapiens Q13137
Y2H Array
31515488
Intra KANSL1 Q7Z3B3 CALCOCO2 Homo sapiens Q13137
Y2H Array
25416956
Intra KANSL1 Q7Z3B3 CEP70 Homo sapiens Q8NHQ1
Y2H Prey Pooling
25416956
Intra KANSL1 Q7Z3B3 CEP70 Homo sapiens Q8NHQ1
Validated Y2H
25416956
Intra KANSL1 Q7Z3B3 CEP70 Homo sapiens Q8NHQ1
Y2H Array
25416956
Intra KANSL1 Q7Z3B3 CCDC85B Homo sapiens Q15834
Pull Down
16189514
Intra KANSL1 Q7Z3B3 HOOK2 Homo sapiens Q96ED9
Validated Y2H
25416956
Intra KANSL1 Q7Z3B3 HOOK2 Homo sapiens Q96ED9
Y2H
21516116
Intra KANSL1 Q7Z3B3 MAGEA12 Homo sapiens P43365
Y2H Array
25416956
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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