AFF1 - ALF transcription elongation factor 1 Gene

中文名称：ALF 转录延伸因子 1

种属: Homo sapiens

同用名: AF4; FEL; PBM1; MLLT2

基因 ID: 4299 | 基因类型: protein coding

关于 AFF1

Cytogenetic location: 4q21.3-q22.1 Genomic coordinates (GRCh38): 4:86,935,011-87,141,039 (from NCBI)

This gene has 12 transcripts (splice variants), 207 orthologues, 3 paralogues and is associated with 86 phenotypes. Ubiquitous expression in thyroid (RPKM 30.6), fat (RPKM 17.7) and 25 other tissues.

功能概要

该基因编码与脆性 XE 综合征 (FRAXE) 蛋白家族相关的 AF4/淋巴细胞核蛋白的成员，该蛋白与人类儿童淋巴细胞白血病、脆性 X 染色体智力障碍和共济失调有关。它是与自发性急性淋巴细胞白血病相关的流行的混合谱系白血病融合基因。该家族的成员具有三个保守结构域：N 末端同源结构域、AF4/淋巴核蛋白结构域和 C 末端同源结构域。该蛋白质通过延伸和染色质重塑功能充当 RNA 聚合酶 II 介导的转录的调节剂。通过 RNA 干扰筛选，该基因已显示可促进 CD133 的表达，CD133 是白血病细胞存活所需的质膜糖蛋白。可变剪接导致多个转录本变体。[RefSeq 提供，2017 年 7 月]

This gene encodes a member of the AF4/ lymphoid nuclear protein related to the Fragile X E syndrome (FRAXE) family of proteins, which have been implicated in human childhood lymphoblastic leukemia, fragile chromosome X intellectual disability, and ataxia. It is the prevalent mixed-lineage leukemia fusion gene associated with spontaneous acute lymphoblastic leukemia. Members of this family have three conserved domains: an N-terminal homology domain, an AF4/ lymphoid nuclear protein domain, and a C-terminal homology domain. The protein functions as a regulator of RNA polymerase II-mediated transcription through elongation and chromatin remodeling functions. Through RNA interference screens, this gene has been shown to promote the expression of CD133, a plasma membrane glycoprotein required for leukemia cell survival. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]

AFF1 基因产物(4)

mRNA	Protein	Name
NM_001166693.3	NP_001160165.1	AF4/FMR2 family member 1 isoform 1
NM_001313959.2	NP_001300888.1	AF4/FMR2 family member 1 isoform 3
NM_001313960.2	NP_001300889.1	AF4/FMR2 family member 1 isoform 4
NM_005935.4	NP_005926.1	AF4/FMR2 family member 1 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 protein binding	IPI IPI: 通过物理相互作用推断	21729782	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

AFF1 蛋白结构

AF-4

0
200
400
600
800
1000
1210 a.a.

蛋白主名

其他名称

AF4/FMR2 family member 1

ALL1-fused gene from chromosome 4 protein

AFF1 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
Cross	AFF1	P51825	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

B-Lymphoblastic Leukemia/Lymphoma With Recurrent Genetic Abnormality

Leukemia

Leukemias	Leukaemia, Unspecified, Without Mention Of Remission
Aleukemic Leukaemia	Chronic Leukaemia
Subacute Leukaemia	Leukaemia Disorder
Leukaemia Nos

Acute Leukemia

Stem Cell Leukaemia	Stem Cell Leukemia
Acute Leukemias	Acute Undifferentiated Leukemia
Undifferentiated Leukemia	Acute Leukaemia Of Unspecified Cell Type Without Mention Of Remission
Blast Cell Leukaemia	Blast Leukaemia
Blastic Leukaemia	Undifferentiated Leukaemia

Chronic Neutrophilic Leukemia

Cnl	Leukemia Neutrophilic Chronic

Central Nervous System Leukemia

Leukemia Of The Cns

Amyotrophic Lateral Sclerosis, Juvenile, With Dementia

Juvenile Amyotrophic Lateral Sclerosis With Dementia

Als-Dementia Complex

Neonatal Leukemia

Leukemia, Acute Lymphoblastic

Acute Lymphoblastic Leukemia	ALL
Acute Lymphocytic Leukemia	Leukemia, Acute Lymphocytic, Susceptibility To, 1
Acute Lymphoblastic Leukaemia	Precursor Lymphoblastic Lymphoma/Leukemia
Precursor Lymphoid Neoplasm	Leukemia, Acute Lymphoblastic, Susceptibility To
B-Cell Acute Lymphoblastic Leukemia	Leukemia, Acute Lymphocytic 1
Acute Lymphocytic Leukaemia	Acute Lymphoblastic Leukemia/Lymphoma
All1	Childhood Acute Lymphoblastic Leukemia
Leukemia Acute Lymphoblastic 1	Leukemia Acute Lymphoblastic B-Hyperdiploid
Leukemia Acute Lymphocytic	Leukemia Acute Lymphocytic 1
Leukemia B-Cell Acute Lymphoblastic	Leukemia T-Cell Acute Lymphoblastic
Leukemia, Acute Lymphoblastic, 3	ALL3
Lymphoblastic Leukemia Acute	Leukemia, Acute, Lymphoblastic
Precursor Cell Lymphoblastic Leukemia Lymphoma	Leukemia, Lymphocytic, Acute, L1
Leukemia, Acute Lymphoblastic, Susceptibility To, 3

Childhood Leukemia

B-Lymphoblastic Leukemia/Lymphoma Mll Rearranged

B-Lymphoblastic Leukemia/Lymphoma Kmt2a Rearranged	B Lymphoblastic Leukemia/Lymphoma With T
Mll Rearranged	B-All Kmt2a Rearranged
B-Lymphoblastic Leukemia/Lymphoma With T	Kmt2a Rearranged

Monocytic Leukemia

Monocytic Leukaemia	Schilling'S Leukaemia
Schilling'S Leukemia	M5b Acute Differentiated Monocytic Leukemia

Testicular Leukemia

Locked-In Syndrome

Locked In Syndrome	Cerebromedullospinal Disconnection
Locked-In State	Quadriplegia

Adult Acute Lymphocytic Leukemia

Adult Acute Lymphoid Leukemia

Adult All

Acute Biphenotypic Leukemia

Mixed Phenotype Acute Leukemia	Acute Leukemia Of Ambiguous Lineage
Acute Undifferentiated Leukemia	Acute Leukemia Of Indeterminate Lineage
Hybrid Acute Leukemia	Mixed Lineage Acute Leukemia
All With Myeloid Markers	Aml With Lymphoid Markers
Acute Leukemia Of Undetermined Lineage	Bal
Biphenotypic Acute Leukemia	Undifferentiated Acute Leukemia
Mpal	Acute Myeloid Leukemia, Minimal Differentiation, Fab M0
Leukemia, Biphenotypic, Acute

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

Brain Ependymoma

Ependymal Tumor Of Brain

Ependymoma Of Brain

B-Lymphoblastic Leukemia/Lymphoma

B Lymphoblastic Leukemia/Lymphoma	B-All
Precursor B Lymphoblastic Lymphoma/Leukemia	C-All
Lymphoblastic Lymphoma, Nos	Common Precursor B All
Lymphoblastic B-Cell Lymphoma	Pro-B All
B-Precursor Lymphoma	Lbl - [Lymphoblastic Lymphoma]

Epithelial-Stromal Tgfbi Dystrophy

Lattice Corneal Dystrophy

Familial Amyloid Neuropathy, Finnish Type

Familial Amyloid Polyneuropathy, Type V

Leukemia, Acute Myeloid

Acute Myeloid Leukemia	Leukemia, Acute Myelogenous
Acute Myelogenous Leukemia	AML
Leukemia, Acute Myeloid, Susceptibility To	Acute Myeloblastic Leukemia
Leukemia, Acute Myeloid, Reduced Survival In, Somatic	Acute Myeloid Leukaemia
Leukemia, Myelocytic, Acute	Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome
Secondary Aml	Acute Myelocytic Leukemia
Acute Myeloid Leukemia, Somatic	Leukemia, Acute Myeloid, Somatic
Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic	Acute Myeloblastic Leukaemia
Acute Myelogenous Leukaemia	Aml - Acute Myeloid Leukemia
Acute Myeloid Leukemia With Cebpa Somatic Mutations	Aml With Cebpa Somatic Mutations
Inherited Acute Myeloid Leukemia	Familial Aml
Inherited Aml	Pure Familial Aml
Pure Familial Acute Myeloid Leukemia	Secondary Acute Myeloid Leukemia
Therapy-Related Aml And Myelodysplastic Syndrome	Acute Myeloid Leukemia, Secondary
Acute Non-Lymphoblastic Leukemia	Acute Non-Lymphocytic Leukemia
Acute Biphenotypic Leukemia	Acute Undifferentiated Leukemia
Acute Myeloblastic Leukaemia With Multilineage Dysplasia	Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission
Acute Myeloid Leukaemia With Myelodysplasia-Related Features

Acute Promyelocytic Leukemia

Leukemia, Acute Promyelocytic	Acute Myeloblastic Leukemia Type 3
Aml M3	APL
Leukemia, Acute Promyelocytic, Somatic	Aml With T(15
17)(Q22	Q12)
(Pml/Raralpha) And Variants	Apml
Acute Myeloblastic Leukemia 3	Acute Myeloid Leukemia With T(15
17)(Q22	Q12)
(Pml/Raralpha) And Variants	Acute Myeloblastic Leukaemia Type 3
Acute Myeloid Leukaemia M3	Acute Myeloid Leukemia M3
Acute Promyelocytic Leukaemia	M3 Anll
Myeloid Leukemia, Acute, M3	Leukemia Promyelocytic Acute
Leukemia, Promyelocytic, Acute	Leukemia, Acute, Promyelocytic

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS00428	AFF1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Canis familiaris	AFF1	VGNC	VGNC:37686
Felis catus	AFF1	VGNC	VGNC:68271
Macaca mulatta	AFF1	VGNC	VGNC:69817
Mus musculus	AFF1	MGD	MGI:1100819
Bos taurus	AFF1	VGNC	VGNC:25710
Rattus norvegicus	AFF1	RGD	RGD:1307940

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

AFF1 - ALF transcription elongation factor 1 Gene

关于 AFF1

功能概要

AFF1 基因产物(4)

AFF1 蛋白结构

AFF1 蛋白互作信息

关联疾病

直系同源

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AFF1 - ALF transcription elongation factor 1 Gene

关于 AFF1

功能概要

AFF1 基因产物(4)

AFF1 蛋白结构

AFF1 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

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C

F

G

H

J

L

N

Q

S

T

X

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