1. Gene
  2. AFF4 - ALF transcription elongation factor 4 Gene

AFF4 - ALF transcription elongation factor 4 Gene

中文名称:ALF 转录延伸因子 4

种属: Homo sapiens

同用名: MCEF; CHOPS; AF5Q31

基因 ID: 27125 | 基因类型: protein coding

关于 AFF4

Cytogenetic location: 5q31.1 Genomic coordinates (GRCh38): 5:132,875,395-132,963,634 (from NCBI)

This gene has 9 transcripts (splice variants), 212 orthologues, 3 paralogues and is associated with 77 phenotypes. Ubiquitous expression in thyroid (RPKM 21.2), adrenal (RPKM 17.6) and 25 other tissues.

功能概要

该基因编码的蛋白质属于与白血病有关的转录因子 AF4 家族。它是正转录延伸因子 b (P-TEFb) 复合物的组成部分。在具有 ins (5;11) (q31;q31q23) 的婴儿急性淋巴细胞白血病中发现了涉及该基因和 11 号染色体上的 MLL 基因的染色体易位。[RefSeq 提供,2011 年 10 月]

The protein encoded by this gene belongs to the AF4 family of transcription factors involved in leukemia. It is a component of the positive transcription elongation factor b (P-TEFb) complex. A chromosomal translocation involving this gene and MLL gene on chromosome 11 is found in infant acute lymphoblastic leukemia with ins(5;11)(q31;q31q23). [provided by RefSeq, Oct 2011]

AFF4 基因产物(1)

mRNA Protein Name
NM_014423.4 NP_055238.1 AF4/FMR2 family member 4
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 protein binding IPI
IPI: 通过物理相互作用推断
20153263 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of transcription elongation factor complex IDA
IDA: 通过直接分析推断
22195968 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

AFF4 蛋白结构

AF-4

AF-4: AF-4 proto-oncoprotein (2 - 1160)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1163 a.a.
蛋白主名 其他名称

AF4/FMR2 family member 4

ALL1-fused gene from chromosome 5q31 protein

AFF4 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 AFF4 Q9UHB7 MLLT1 Homo sapiens Q03111
Anti Tag CoIP
21729782
Intra AFF4 Q9UHB7 MLLT1 Homo sapiens Q03111
Affinity Chrom
20153263
Intra AFF4 Q9UHB7 MLLT1 Homo sapiens Q03111
Anti Bait CoIP
20153263
Intra AFF4 Q9UHB7 MLLT1 Homo sapiens Q03111
Anti Tag CoIP
20153263
Intra AFF4 Q9UHB7 CCNT1 Homo sapiens O60563
Anti Tag CoIP
33961781
Intra AFF4 Q9UHB7 CCNT1 Homo sapiens O60563
Anti Tag CoIP
20153263
Intra AFF4 Q9UHB7 CCNT1 Homo sapiens O60563
Anti Bait CoIP
20153263
Intra AFF4 Q9UHB7 CCNT1 Homo sapiens O60563
Anti Tag CoIP
21729782
Intra AFF4 Q9UHB7 CCNT1 Homo sapiens O60563
Anti Tag CoIP
28514442
Intra AFF4 Q9UHB7 CCNT1 Homo sapiens O60563
Affinity Chrom
20153263
Intra AFF4 Q9UHB7 TRAF2 Homo sapiens Q12933
Y2H Array
25416956
Intra AFF4 Q9UHB7 AP2B1 Homo sapiens P63010
Validated Y2H
25416956
Intra AFF4 Q9UHB7 GOLGA2 Homo sapiens Q08379
Validated Y2H
25416956
Intra AFF4 Q9UHB7 GOLGA2 Homo sapiens Q08379
Y2H Prey Pooling
25416956
Intra AFF4 Q9UHB7 GOLGA2 Homo sapiens Q08379
Y2H Array
25416956
Intra AFF4 Q9UHB7 MLLT3 Homo sapiens P42568
Anti Tag CoIP
20153263
Intra AFF4 Q9UHB7 MLLT3 Homo sapiens P42568
Anti Tag CoIP
21729782
Intra AFF4 Q9UHB7 MTUS2 Homo sapiens Q5JR59
Validated Y2H
25416956
Intra AFF4 Q9UHB7 MTUS2 Homo sapiens Q5JR59
Y2H Prey Pooling
25416956
Intra AFF4 Q9UHB7 SIAH1 Homo sapiens Q8IUQ4
Y2H Prey Pooling
25416956
Intra AFF4 Q9UHB7 SIAH1 Homo sapiens Q8IUQ4
Y2H Array
25416956
Intra AFF4 Q9UHB7 SIAH1 Homo sapiens Q8IUQ4
Validated Y2H
25416956
Cross AFF4 Q9UHB7 tat Human immunodeficiency virus P04608
Pull Down
22190034
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
Chops Syndrome

CHOPS

Cognitive Impairment, Coarse Facies, Heart Defects, Obesity, Pulmonary Involvement, Short Stature, And Skeletal Dysplasia

Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome

Cognitive Impairment - Coarse Facies - Heart Defects - Obesity - Pulmonary Involvement - Short Stature - Skeletal Dysplasia Syndrome

Intellectual Developmental Disorder, X-Linked 109

Fraxe Syndrome

Fragile Xe Syndrome

Mental Retardation, X-Linked, Fraxe Type

XLID109

Mrx109

Mental Retardation, X-Linked, Associated With Fragile Site Fraxe

Fraxe Mental Retardation Syndrome

X-Linked Intellectual Developmental Disorder 109

Fraxe Intellectual Disability

Fraxe

Mental Retardation, X-Linked 109

Fragile Site On Chromosome Xq28

Fragile Site, Folic Acid Type

X-Linked Intellectual Disability Associated With Fragile Site Fraxe

Fraxe Intellectual Deficit

Intellectual Disability Associated With Fragile Site Fraxe

Cataract 11, Multiple Types

Cataract, Posterior Polar, 4

Ctpp4

Cpp4

Cataract 11 Multiple Types

CTRCT11

Cataract 11, Syndromic, Autosomal Recessive

Cataract 11 With Microphthalmia And Neurodevelopmental Abnormalities

Posterior Polar Cataract 4

Posterior Polar Cataract, 4

Cataract Posterior Polar 4

Syndromic Cataract 11

Cataract, Type 11, Multiple Types

Kbg Syndrome

KBGS

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

Short Stature, Characteristic Facies, Macrodontia, Intellectual Disability, 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

Cornelia De Lange Syndrome

De Lange Syndrome

Brachmann De Lange Syndrome

Brachmann-De Lange Syndrome

Cdls

Bdls

Typus Degenerativus Amstelodamensis

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
Macaca mulatta AFF4 VGNC VGNC:69629
Rattus norvegicus AFF4 RGD RGD:1311694
Mus musculus AFF4 MGD MGI:2136171
Bos taurus AFF4 VGNC VGNC:25712
Canis familiaris AFF4 VGNC VGNC:37688
Felis catus AFF4 VGNC VGNC:59669