1. Gene
  2. HDAC8 - histone deacetylase 8 Gene

HDAC8 - histone deacetylase 8 Gene

中文名称:组蛋白脱乙酰酶 8

种属: Homo sapiens

同用名: HD8; WTS; RPD3; CDA07; CDLS5; KDAC8; MRXS6; HDACL1

基因 ID: 55869 | 基因类型: protein coding

关于 HDAC8

Cytogenetic location: Xq13.1 Genomic coordinates (GRCh38): X:72,329,516-72,572,843 (from NCBI)

This gene has 60 transcripts (splice variants), 202 orthologues, 10 paralogues and is associated with 5 phenotypes.

功能概要

组蛋白在转录调控、细胞周期进程和发育事件中发挥关键作用。组蛋白乙酰化/去乙酰化改变染色体结构并影响转录因子对 DNA 的访问。该基因编码的蛋白质属于组蛋白脱乙酰酶家族的 I 类。它催化组蛋白 N 末端赖氨酸残基的去乙酰化,并抑制具有转录共抑制因子的大型多蛋白复合物中的转录。已经为该基因发现了编码不同同种型的多个转录变体。[由 RefSeq 提供,2009 年 10 月]

Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene belongs to class I of the histone deacetylase family. It catalyzes the deacetylation of lysine residues in the histone N-terminal tails and represses transcription in large multiprotein complexes with transcriptional co-repressors. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

HDAC8 基因产物(27)

mRNA Protein Name
XM_017029641.3 XP_016885130.2 histone deacetylase 8 isoform X3
XM_047442256.1 XP_047298212.1 histone deacetylase 8 isoform X11
XM_047442252.1 XP_047298208.1 histone deacetylase 8 isoform X4
NM_001410730.1 NP_001397659.1 histone deacetylase 8 isoform 11
NR_051952.2
XM_011530986.4 XP_011529288.3 histone deacetylase 8 isoform X1
NM_001166422.2 NP_001159894.1 histone deacetylase 8 isoform 5
NM_018486.3 NP_060956.1 histone deacetylase 8 isoform 1
NM_001166418.2 NP_001159890.1 histone deacetylase 8 isoform 2
XM_017029644.3 XP_016885133.2 histone deacetylase 8 isoform X8
NM_001410725.1 NP_001397654.1 histone deacetylase 8 isoform 7
XM_047442257.1 XP_047298213.1 histone deacetylase 8 isoform X13
XM_017029647.3 XP_016885136.2 histone deacetylase 8 isoform X12
XR_938402.4
XM_047442255.1 XP_047298211.1 histone deacetylase 8 isoform X10
NM_001410727.1 NP_001397656.1 histone deacetylase 8 isoform 8
NM_001410729.1 NP_001397658.1 histone deacetylase 8 isoform 10
NM_001410728.1 NP_001397657.1 histone deacetylase 8 isoform 9
XM_017029640.3 XP_016885129.2 histone deacetylase 8 isoform X2
XM_017029643.3 XP_016885132.2 histone deacetylase 8 isoform X7
XM_017029645.3 XP_016885134.2 histone deacetylase 8 isoform X9
XM_017029642.2 XP_016885131.2 histone deacetylase 8 isoform X5
XM_047442253.1 XP_047298209.1 histone deacetylase 8 isoform X6
NM_001166419.2 NP_001159891.1 histone deacetylase 8 isoform 3
NM_001166448.2 NP_001159920.1 histone deacetylase 8 isoform 6
NM_001166420.2 NP_001159892.1 histone deacetylase 8 isoform 4
XM_047442252.1 XP_047298208.1 histone deacetylase 8 isoform X2
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables Hsp70 protein binding IPI
IPI: 通过物理相互作用推断
16809764 GOA
enables Hsp90 protein binding IPI
IPI: 通过物理相互作用推断
16809764 GOA
enables histone deacetylase activity IDA
IDA: 通过直接分析推断
28497810 GOA
enables histone decrotonylase activity IDA
IDA: 通过直接分析推断
28497810 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16809764 GOA
enables protein lysine deacetylase activity IDA
IDA: 通过直接分析推断
22885700 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in mitotic sister chromatid cohesion IMP
IMP: 通过突变表型推断
22885700 GOA
involved in negative regulation of protein ubiquitination IDA
IDA: 通过直接分析推断
16809764 GOA
involved in regulation of protein stability IDA
IDA: 通过直接分析推断
16809764 GOA
involved in regulation of telomere maintenance IMP
IMP: 通过突变表型推断
16809764 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

HDAC8 蛋白结构

Hist_deacetyl

Hist_deacetyl: Histone deacetylase domain (27 - 322)

  • 0
  • 100
  • 200
  • 300
  • 377 a.a.
蛋白主名 其他名称

histone deacetylase 8

histone deacetylase-like 1

protein deacetylase HDAC8

protein decrotonylase HDAC8

关联疾病

疾病名称 别名
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type

Wilson-Turner Syndrome

WTS

Mrxs6

Mental Retardation, X-Linked, Syndromic 6

Mental Retardation, X-Linked, With Gynecomastia And Obesity

X-Linked Intellectual Disability-Gynecomastia-Obesity Syndrome

Mrxswt

Wilson-Turner X-Linked Mental Retardation Syndrome

Wilson Turner Mental Retardation Syndrome

X-Linked Intellectual Disability - Gynecomastia - Obesity

Familial Isolated Trichomegaly

Long Eyelashes

Tcmgly

Chromosome 16p13.3 Deletion Syndrome, Proximal

Rubinstein-Taybi Syndrome

Broad Thumb-Hallux Syndrome

Chromosome 16p13.3 Deletion Syndrome

Rubinstein-Taybi Syndrome Due To 16p13.3 Microdeletion

Rubinstein Syndrome

Broad Thumbs-Halluces Syndrome

Rsts

Rubinstein-Taybi Deletion Syndrome

Rsts Deletion Syndrome

Proximal Chromosome 16p13.3 Deletion Syndrome

16p13.3 Deletion Syndrome

Broad Thumbs And Great Toes, Characteristic Facies, And Mental Retardation

Rts

Kbg Syndrome

KBGS

Macrodontia, Mental Retardation, Characteristic Facies, Short Stature, And Skeletal Anomalies

Short Stature, Characteristic Facies, Macrodontia, Mental Retardation, And Skeletal Anomalies

Short Stature-Characteristic Facies-Mental Retardation-Macrodontia-Skeletal Anomalies Syndrome

Short Stature-Facial And Skeletal Anomalies-Intellectual Disability-Macrodontia Syndrome

Roberts-Sc Phocomelia Syndrome

Roberts Syndrome

Sc Phocomelia Syndrome

RBS

Long Bone Deficiencies Associated With Cleft Lip-Palate

Sc Pseudothalidomide Syndrome

Appelt-Gerken-Lenz Syndrome

Pseudothalidomide Syndrome

Hypomelia Hypotrichosis Facial Hemangioma Syndrome

Tetraphocomelia-Cleft Palate Syndrome

Roberts Syndrome/Sc Phocomelia

Roberts Tetraphocomelia Syndrome

Sc Syndrome

Sc Phocomelia

Sc Disease

Sc

Hemoglobin Sc Disease

Rett Syndrome

Atypical Rett Syndrome

RTT

Rts

Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use

Rett Syndrome, Atypical

Rett Syndrome, Preserved Speech Variant

Rett'S Disorder

Rett Syndrome Variant

Rett Disorder

Cerebroatrophic Hyperammonemia

Rett Like Syndrome

Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome

Rett'S Syndrome

Atypical Rtt

Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use

Rett Syndrome Preserved Speech Variant

Rett Syndrome Zappella Variant

Rett Syndrome, Zappella Variant

Polycystic Kidney Disease

Polycystic Kidney Diseases

Pkd

Polycystic Renal Disease

Kidney Disease, Polycystic

Polycystic Kidney, Autosomal Dominant

Chronic Atrial And Intestinal Dysrhythmia

CAID

Caid Syndrome

Cohesinopathy Affecting Heart And Gut Rhythm

Chronic Atrial Intestinal Dysrhythmia Syndrome

Chronic Atrial And Intestinal Dysrhythmia Syndrome

Chronic Atrial Dysrhythmia-Intestinal Motility Disorder

Dysrhythmia, Atrial And Intestinal, Chronic

Cornelia De Lange Syndrome

De Lange Syndrome

Brachmann De Lange Syndrome

Brachmann-De Lange Syndrome

Cdls

Bdls

Typus Degenerativus Amstelodamensis

Fanconi Anemia, Complementation Group C

Fanconi Anemia Complementation Group C

FANCC

Facc

Fac

Fa3

Fanconi Pancytopenia Type 3

Fanconi Pancytopenia, Type 3

Faces Syndrome

Facial Features , Anorexia, Cachexia, Eye And Skin Anomalies

Friedman-Goodman Syndrome

Abnormality Of The Face

Cornelia De Lange Syndrome 5

CDLS5

Cornelia De Lange Syndrome, Type 5

Cornelia De Lange Syndrome 1

De Lange Syndrome

CDLS1

Cdl

Cdls

Typus Degenerativus Amstelodamensis

Brachmann-De Lange Syndrome

Bdls

Amstelodamensis Typus Degenerativus

Cornelia De Lange Syndrome, Type 1

Mature T-Cell And Nk-Cell Lymphoma

Mature T-Cell And Natural Killer Cell Lymphoma

Nk-T Cell Lymphoma

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Syndactyly, Type Iii

Syndactyly Type 3

SDTY3

Ring And Little Finger Syndactyly

Syndactyly Of Fingers Iv And V

Syndactyly Of Fingers 4 And 5

Ringand Little Finger Syndactyly

Syndactyly Of Fingers Four And Five

Syndactyly Of The Ring And Little Finger

Sd3

Syndactyly 3

Syndactyly Type Iii

4-5 Finger Syndactyly

Syndactyly, Type 3

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

White-Sutton Syndrome

WHSUS

Mrd37

Intellectual Disability-Microcephaly-Strabismus-Behavioral Abnormalities Syndrome

Mental Retardation, Autosomal Dominant 37

Autosomal Dominant Mental Retardation 37

Pogz-Related Intellectual Disability Syndrome

Peripheral T-Cell Lymphoma

Lymphoma T-Cell Peripheral

Interatrial Communication

Asd

Atrial Septal Defect

Interauricular Communication

Atrial Heart Septal Defect

Atrial Septal Defect

Atrial Septal Defects

Atrioseptal Defect

Auricular Septal Defect

Congenital Atrial Septal Defect

Interatrial Septal Defect

Interauricular Septal Defect

Heart Septal Defects, Atrial

Septal Defect, Atrial

Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures

OPA10

Optic Atrophy 10 With Or Without Ataxia, Intellectual Disability, And Seizures

Optic Atrophy 10

Atrophy, Optic, Type 10, With/Without Ataxia, Mental Retardation, And Seizures

Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects

Cornelia De Lange Syndrome 4

CDLS4

Cornelia De Lange Syndrome, Type 4

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 HDAC8 VGNC VGNC:56708
Rattus norvegicus HDAC8 RGD RGD:1562895
Mus musculus HDAC8 MGD MGI:1917565
Canis familiaris HDAC8 VGNC VGNC:50631
Others HDAC8 NCBI