1. Gene
  2. ASH1L - ASH1 like histone lysine methyltransferase Gene

ASH1L - ASH1 like histone lysine methyltransferase Gene

中文名称:ASH1 样组蛋白赖氨酸甲基转移酶

种属: Homo sapiens

同用名: ASH1; KMT2H; MRD52; ASH1L1

基因 ID: 55870 | 基因类型: protein coding

关于 ASH1L

Cytogenetic location: 1q22 Genomic coordinates (GRCh38): 1:155,335,268-155,563,202 (from NCBI)

This gene has 17 transcripts (splice variants), 249 orthologues, 19 paralogues and is associated with 3 phenotypes. Ubiquitous expression in ovary (RPKM 12.4), thyroid (RPKM 10.9) and 25 other tissues.

功能概要

该基因编码 trithorax 组转录激活因子的一个成员。该蛋白质包含四个 AT 钩子、一个 SET 结构域、一个 PHD 手指基序和一个溴结构域。它定位于细胞核中的许多小斑点,以及细胞与细胞的紧密连接。[RefSeq 提供,2008 年 7 月]

This gene encodes a member of the trithorax group of transcriptional activators. The protein contains four AT hooks, a SET domain, a PHD-finger motif, and a bromodomain. It is localized to many small speckles in the nucleus, and also to cell-cell tight junctions. [provided by RefSeq, Jul 2008]

ASH1L 基因产物(2)

mRNA Protein Name
NM_001366177.2 NP_001353106.1 histone-lysine N-methyltransferase ASH1L isoform 1
NM_018489.3 NP_060959.2 histone-lysine N-methyltransferase ASH1L isoform 2
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables histone H3K36 methyltransferase activity IDA
IDA: 通过直接分析推断
26002201 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nucleus IDA
IDA: 通过直接分析推断
25593309 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

ASH1L 蛋白结构

SET

SET: SET domain (2156 - 2261)

Bromodomain

Bromodomain: Bromodomain (2453 - 2536)

PHD

PHD: PHD-finger (2587 - 2630)

BAH

BAH: BAH domain (2663 - 2796)

  • 0
  • 500
  • 1000
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  • 2000
  • 2500
  • 2969 a.a.
蛋白主名 其他名称

histone-lysine N-methyltransferase ASH1L

ASH1-like protein

关联疾病

疾病名称 别名
Intellectual Developmental Disorder, Autosomal Dominant 52

MRD52

Mental Retardation, Autosomal Dominant 52

Autosomal Dominant Intellectual Developmental Disorder 52

Autosomal Dominant Mental Retardation 52

Mental Retardation, Autosomal Dominant, Type 52

Autosomal Dominant Non-Syndromic Intellectual Disability
Ovarian Endometrioid Adenofibroma
Noonan Syndrome 8

NS8

Noonan Syndrome, Type 8

Viral Gastritis
Pulpitis

Pulp Stones

Pulpitis Nos

Facioscapulohumeral Muscular Dystrophy 1

Facioscapulohumeral Muscular Dystrophy

Fshd

Landouzy-Dejerine Muscular Dystrophy

Muscular Dystrophy, Facioscapulohumeral

FSHD1

Fshd1a

Muscular Dystrophy, Facioscapulohumeral, Type 1a

Facioscapulohumeral Muscular Dystrophy Type 1a

Fsh Muscular Dystrophy

Facioscapulohumeral Muscular Dystrophy 1a

Facioscapulohumeral Atrophy

Facioscapulohumeral Myopathy

Muscular Dystrophy, Facioscapulohumeral, Type 1

Facioscapulohumeral Muscular Dystrophy Type 1

Landouzy Dejerine Muscular Dystrophy

Muscular Dystrophy, Landouzy-Dejerine

Fshmd1a

Facio-Scapulo-Humeral Dystrophy

Facioscapulohumeral Type Progressive Muscular Dystrophy

Facioscapuloperoneal Muscular Dystrophy

Facioscapulohumeral Dystrophy

Fsh Dystrophy

Landouzy-Dejerine Dystrophy

Landouzy-Dejerine Myopathy

Fmd

Facioscapulohumeral Muscular Dystrophy-1a

Muscular Dystrophy Facioscapulohumeral

Dystrophy, Muscular, Facioscapulohumeral

Dystrophy, Muscular, Facioscapulohumeral, Type 1

Landouzy-Dejerine Disease

Landouzy-Déjerine Atrophy

Facioscapulohumeral Muscle Dystrophy

Fmd - [Facioscapulohumeral Muscular Dystrophy]

Fsh - [Facioscapulohumeral Muscular Dystrophy]

Fshd - [Facioscapulohumeral Muscular Dystrophy]

Landouzy-Déjerine Dystrophy Or Facioscapulohumeral Atrophy

Landouzy-Déjérine Muscular Dystrophy

Weaver Syndrome

Wss

Weaver-Smith Syndrome

WVS

Weaver-Like Syndrome

Weaver-Williams Syndrome

Camptodactyly-Overgrowth-Unusual Facies Syndrome

Camptodactyly - Overgrowth - Unusual Facies

Ezh2 Related Overgrowth

Overgrowth Syndrome With Accelerated Skeletal Maturation, Unusual Facies, And Camptodactyly

Weaver Smith Syndrome

Weaver Like Syndrome

Weaver Williams Syndrome

Camptodactyly-Overgrowth-Unusual Facies

Weaver Syndrome 1

Weaver Syndrome 2

Wvs1

Wvs2

Autism Spectrum Disorder

Asd

Autism Spectrum Disorders

Autistic Continuum

Pervasive Developmental Disorder

Pervasive Development Disorder

Autistic Behavior

Autistic Disorder

Autistic

Autistic Disorder Of Childhood Onset

Infantile Autism

Childhood Autism

Kanner Syndrome

Pervasive Developmental Delay Nos

Pervasive Developmental Disorder, Not Otherwise Specified

Muscular Dystrophy

Muscular Dystrophies

Congenital Md

Congenital Muscular Dystrophy

Cmd

Mdc

Dystrophy, Muscular

Gower'S Muscular Dystrophy

Progressive Musclular Dystrophy

Pseudohypertrophic Atrophy

Pseudohypertrophic Muscle Paralysis

Pseudohypertrophic Muscular Atrophy

Pseudohypertrophic Muscular Dystrophy

Pseudohypertrophic Paralysis

Pseudomuscular Hypertrophy

Sotos Syndrome

Cerebral Gigantism

SOTOS

Chromosome 5q35 Deletion Syndrome

Sotos Syndrome 1, Formerly

Sotos1, Formerly

Distinctive Facial Appearance, Overgrowth In Childhood, And Learning Disabilities Or Delayed Development

Sotos Sequence

Sotos' Syndrome

Sotos1

Sotos Syndrome 1

Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

Wolf-Hirschhorn Syndrome

Pitt-Rogers-Danks Syndrome

WHS

Chromosome 4p16.3 Deletion Syndrome

Wittwer Syndrome

4p- Syndrome

Pitt Syndrome

4p Deletion Syndrome

Distal Deletion 4p

Distal Monosomy 4p

Telomeric Deletion 4p

Prds

4p Syndrome

Chromosome 4p Syndrome

Microcephaly, Iugr, Hypertelorism, Ptosis, Iris Coloboma, Hooked Nose, External Ear Dysplasia, Psychomotor Retardation

Wolf Syndrome

Chromosome 4p Deletion Syndrome

Chromosome 4p Monosomy

Del Syndrome

Monosomy 4p

Partial Monosomy 4p

Chromosome 4 Short Arm Deletion

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
Canis familiaris ASH1L VGNC VGNC:50622
Felis catus ASH1L VGNC VGNC:59970
Rattus norvegicus ASH1L RGD RGD:1306350
Mus musculus ASH1L MGD MGI:2183158
Bos taurus ASH1L VGNC VGNC:50606