1. Gene
  2. HIRA - histone cell cycle regulator Gene

HIRA - histone cell cycle regulator Gene

中文名称:组蛋白细胞周期调节因子

种属: Homo sapiens

同用名: TUP1; DGCR1; TUPLE1

基因 ID: 7290 | 基因类型: protein coding

关于 HIRA

Cytogenetic location: 22q11.21 Genomic coordinates (GRCh38): 22:19,330,698-19,431,733 (from NCBI)

This gene has 4 transcripts (splice variants), 210 orthologues and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 43.4), bone marrow (RPKM 10.9) and 24 other tissues.

功能概要

该基因编码组蛋白伴侣,优先将变异组蛋白 H3.3 置于核小体中。该基因在酵母、果蝇和植物中的直系同源物是转录沉默异染色质形成所必需的。该基因在衰老相关异染色质灶的形成中起重要作用。这些病灶可能介导发生在衰老细胞中的不可逆细胞周期变化。它被认为是一些单倍体不足综合征 (如 DiGeorge 综合征) 的主要候选基因,该基因的产生不足可能会破坏正常的胚胎发育。[RefSeq 提供,2008 年 7 月]

This gene encodes a histone chaperone that preferentially places the variant histone H3.3 in nucleosomes. Orthologs of this gene in yeast, flies, and Plants are necessary for the formation of transcriptionally silent heterochomatin. This gene plays an important role in the formation of the senescence-associated heterochromatin foci. These foci likely mediate the irreversible cell cycle changes that occur in senescent cells. It is considered the primary candidate gene in some haploinsufficiency syndromes such as DiGeorge syndrome, and insufficient production of the gene may disrupt normal embryonic development. [provided by RefSeq, Jul 2008]

HIRA 基因产物(1)

mRNA Protein Name
NM_003325.4 NP_003316.3 protein HIRA
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 RNA polymerase II-specific DNA-binding transcription factor binding IPI
IPI: 通过物理相互作用推断
9731536 GOA
enables histone binding IDA
IDA: 通过直接分析推断
9731536 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
9710638 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in nucleosome assembly IDA
IDA: 通过直接分析推断
14718166 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in chromatin IDA
IDA: 通过直接分析推断
14718166 GOA
part of protein-containing complex IDA
IDA: 通过直接分析推断
14718166 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

HIRA 蛋白结构

WD40

WD40: WD domain, G-beta repeat (13 - 44)

WD40

WD40: WD domain, G-beta repeat (66 - 98)

WD40

WD40: WD domain, G-beta repeat (121 - 159)

WD40

WD40: WD domain, G-beta repeat (165 - 201)

WD40

WD40: WD domain, G-beta repeat (263 - 312)

HIRA_B

HIRA_B: HIRA B motif (448 - 471)

Hira

Hira: TUP1-like enhancer of split (763 - 962)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1017 a.a.
蛋白主名 其他名称

protein HIRA

DiGeorge critical region gene 1

HIRA 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
种属内
HIRA P54198 ASF1B Homo sapiens Q9NVP2
ITC
16980972
种属内
HIRA P54198 ASF1B Homo sapiens Q9NVP2
Pull Down
16980972
种属内
HIRA P54198 ASF1B Homo sapiens Q9NVP2
Anti Tag CoIP
16980972
种属内
HIRA P54198 UBN1 Homo sapiens Q9NPG3
GMS
19029251
种属内
HIRA P54198 UBN1 Homo sapiens Q9NPG3
Anti Bait CoIP
19029251
种属内
HIRA P54198 UBN1 Homo sapiens Q9NPG3
Anti Tag CoIP
33961781
种属内
HIRA P54198 UBN1 Homo sapiens Q9NPG3
Anti Tag CoIP
19029251
种属内
HIRA P54198 ASF1A Homo sapiens Q9Y294
Pull Down
16980972
种属内
HIRA P54198 ASF1A Homo sapiens Q9Y294
ITC
16980972
种属内
HIRA P54198 ASF1A Homo sapiens Q9Y294
Anti Tag CoIP
19029251
种属内
HIRA P54198 ASF1A Homo sapiens Q9Y294
Anti Bait CoIP
19029251
种属内
HIRA P54198 ASF1A Homo sapiens Q9Y294
Competition Binding
16980972
种属内
HIRA P54198 ASF1A Homo sapiens Q9Y294
X-Ray Diffraction
16980972
种属内
HIRA P54198 ASF1A Homo sapiens Q9Y294
Anti Tag CoIP
16980972
种属内
HIRA P54198 UBN2 Homo sapiens Q6ZU65
Anti Tag CoIP
19029251
种属内
HIRA P54198 UBN2 Homo sapiens Q6ZU65
Anti Tag CoIP
33961781
种属间: 跨种属相互作用 种属内: 同种属相互作用

HIRA 抗体

目录号 产品名 应用 反应物种
HY-P83037 HIRA Antibody (YA2782) WB, ICC/IF, IP, FC Human

关联疾病

疾病名称 别名
Digeorge Syndrome

Chromosome 22q11.2 Deletion Syndrome

DGS

Hypoplasia Of Thymus And Parathyroids

Third And Fourth Pharyngeal Pouch Syndrome

22q11.2 Deletion Syndrome

Digeorge Sequence

Digeorge'S Syndrome

Pharyngeal Pouch Syndrome

Di-George Syndrome

Shprintzen Syndrome

Chromosome 22q11.2 Deletion Syndrome, Distal

22q11.2 Deletion Syndrome

Autosomal Dominant Opitz G/Bbb Syndrome

Catch22

Cayler Cardiofacial Syndrome

Conotruncal Anomaly Face Syndrome

Digeorge Syndrome

Sedlackova Syndrome

Shprintzen Syndrome

Velocardiofacial Syndrome

22q11.2 Distal Deletion Syndrome

Distal 22q11.2 Microdeletion Syndrome

22q11.2ds

Vcfs

Velo-Cardio-Facial Syndrome

Distal Chromosome 22q11.2 Deletion Syndrome

Chromosome 22q11.2 Deletion Syndrome Distal

Chromosome 22q11.2 Deletion Syndrome

Deletion 22q11.2 Syndrome

22q11ds

Catch 22

Digeorge Sequence

Microdeletion 22q11.2

Monosomy 22q11

Takao Syndrome

Distal Del(22)(Q11.2)

Distal Monosomy 22q11.2

Catch 22 Syndrome

Chromosome Deletion Syndrome 22q11.2, Distal

Velocardiofacial Syndrome

Shprintzen Syndrome

VCFS

Chromosome 22q11.2 Deletion Syndrome

Vcf Syndrome

Shprintzen Vcf Syndrome

Vcf-Velocardiofacial Syndrome

Velo-Cardio-Facial Syndrome

Digeorge Syndrome

22q11 Deletion Syndrome

Conotruncal Anomaly Face Syndrome

Tetralogy Of Fallot

TOF

Fallot Tetralogy

Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle

Tetrad Of Fallot

Fallot Tetrad

Fallot Disease

Fallot Complex

Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy

Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle

Interventricular Septal Defect, In Tetralogy Of Fallot

Ventricular Septal Defect With Obstructed Right Ventricular Outflow

Tof - [Tetralogy Of Fallot]

Pulmonary Atresia With Ventricular Septal Defect [Fallot Type]

Pulmonary Atresia, Ventricular Septal Defect And Mapcas

Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]

Ichthyosis, Congenital, Autosomal Recessive 9

Autosomal Recessive Congenital Ichthyosis 9

ARCI9

Ichthyosis, Congenital, Autosomal Recessive, Type 9

Chromosome 22q11.2 Duplication Syndrome

Chromosome 22q11.2 Microduplication Syndrome

22q11.2 Microduplication Syndrome

22q11.2 Duplication Syndrome

Duplication 22q11.2

Trisomy 22q11.2

22q11.2 Duplication

Dup(22)(Q11)

Chromosomal Deletion Syndrome
Tracheomalacia

Congenital Tracheomalacia

Congenital Major Airway Collapse

Tracheomalacia, Congenital

Type 1 Tracheomalacia

T-Cell Immunodeficiency With Thymic Aplasia

Nezelof Syndrome

T-Lymphocyte Deficiency

TIDTA

Immune Defect Due To Absence Of Thymus

Thymic Aplasia

Nezelof'S Syndrome

Thymic Dysplasia With Normal Immunoglobulins

Thymic Aplasia Syndrome

T-Lymphocyte Immunodeficiency

Patent Ductus Arteriosus 1

Patent Ductus Arteriosus

PDA1

Pda

Ductus Arteriosus, Patent

Patent Ductus Arteriosus, Susceptibility To

Patent Ductus Botalli

Patency Of The Ductus Arteriosus

Patent Ductus Arteriosus Familial

Ductus Arteriosus Patent

Patent Ductus Arteriosus - Persisting Type

Heart Septal Defect

Septal Defect

Heart Septal Defects

Cardiac Septal Defects

Congenital Septal Defect Of Heart

Chromosomal Disease

Chromosomal Disorders

Congenital Chromosomal Disease

Ventricular Septal Defect

Ventricular Septal Defects

Interventricular Septal Defect

Heart Septal Defects, Ventricular

Ventricular Septal Abnormality

Interventricular Septum Defect

Ventricular Septum Defect

Vsd - [Ventricular Septum Defect]

Congenital Ventricular Septal Defect

Single Ventricular Septal Defect

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

Alpha-Thalassemia

Alpha Thalassemia

Alpha Thalassaemia

Alpha Plus Thalassemia

Thalassemia, Alpha-

Thalassemias, Alpha-

A-Thalassemia

Α-Thalassemia

A-THAL

Thalassemia

Alpha Thalassaemia Syndrome

Orofacial Cleft

Cleft, Orofacial

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

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
Felis catus HIRA VGNC VGNC:67576
Canis familiaris HIRA VGNC VGNC:50634
Rattus norvegicus HIRA RGD RGD:1584950
Mus musculus HIRA MGD MGI:99430
Macaca mulatta HIRA VGNC VGNC:96714
Bos taurus HIRA VGNC VGNC:50616