1. Gene
  2. FIP1L1 - factor interacting with PAPOLA and CPSF1 Gene

FIP1L1 - factor interacting with PAPOLA and CPSF1 Gene

中文名称:与 PAPOLA 和 CPSF1 相互作用的因子

种属: Homo sapiens

同用名: Rhe; FIP1; hFip1

基因 ID: 81608 | 基因类型: protein coding

关于 FIP1L1

Cytogenetic location: 4q12 Genomic coordinates (GRCh38): 4:53,377,641-53,460,862 (from NCBI)

This gene has 66 transcripts (splice variants), 29 orthologues and is associated with 70 phenotypes. Ubiquitous expression in testis (RPKM 13.3), brain (RPKM 11.1) and 25 other tissues.

功能概要

该基因编码 CPSF (切割和聚腺苷酸化特异性因子) 复合物的一个亚基,该复合物使 mRNA 前体的 3' 端聚腺苷酸化。该基因是酵母 Fip1 (与 PAP 相互作用的因子) 的同系物,可与富含 U 的 pre-mRNA 序列结合并刺激 poly (A) 聚合酶活性。它的 N 端包含一个 PAP 结合位点,其 C 端包含一个 RNA 结合域。 4q12 上的间质染色体缺失导致人类基因 FIP1L1 和 PDGFRA (血小板衍生生长因子受体,α) 的框内融合。 FIP1L1-PDGFRA 融合基因编码组成型激活的酪氨酸激酶,该激酶将 FIP1L1 的前 233 个氨基酸连接到 PDGFRA 的最后 523 个氨基酸。这种基因融合和染色体缺失是某些形式的特发性嗜酸性粒细胞增多症 (HES) 的原因。这种综合征最近被重新归类为慢性嗜酸性粒细胞白血病 (CEL) ,对酪氨酸激酶抑制剂的治疗有反应。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供,2008 年 10 月]

This gene encodes a subunit of the CPSF (cleavage and polyadenylation specificity factor) complex that polyadenylates the 3' end of mRNA precursors. This gene, the homolog of yeast Fip1 (factor interacting with PAP), binds to U-rich sequences of pre-mRNA and stimulates poly(A) polymerase activity. Its N-terminus contains a PAP-binding site and its C-terminus an RNA-binding domain. An interstitial chromosomal deletion on 4q12 creates an in-frame fusion of human genes FIP1L1 and PDGFRA (platelet-derived growth factor receptor, alpha). The FIP1L1-PDGFRA fusion gene encodes a constitutively activated tyrosine kinase that joins the first 233 Amino acids of FIP1L1 to the last 523 Amino acids of PDGFRA. This gene fusion and chromosomal deletion is the cause of some forms of idiopathic hypereosinophilic syndrome (HES). This syndrome, recently reclassified as chronic eosinophilic leukemia (CEL), is responsive to treatment with tyrosine kinase inhibitors. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]

FIP1L1 基因产物(47)

mRNA Protein Name
NM_001134937.2 NP_001128409.1 pre-mRNA 3'-end-processing factor FIP1 isoform 2
NM_001134938.2 NP_001128410.1 pre-mRNA 3'-end-processing factor FIP1 isoform 3
NM_001376744.1 NP_001363673.1 pre-mRNA 3'-end-processing factor FIP1 isoform 4
NM_001376745.1 NP_001363674.1 pre-mRNA 3'-end-processing factor FIP1 isoform 5
NM_001376746.1 NP_001363675.1 pre-mRNA 3'-end-processing factor FIP1 isoform 6
NM_001376747.1 NP_001363676.1 pre-mRNA 3'-end-processing factor FIP1 isoform 7
NM_001376748.1 NP_001363677.1 pre-mRNA 3'-end-processing factor FIP1 isoform 8
NM_001376749.1 NP_001363678.1 pre-mRNA 3'-end-processing factor FIP1 isoform 9
NM_001376750.1 NP_001363679.1 pre-mRNA 3'-end-processing factor FIP1 isoform 10
NM_001376751.1 NP_001363680.1 pre-mRNA 3'-end-processing factor FIP1 isoform 11
NM_001376752.1 NP_001363681.1 pre-mRNA 3'-end-processing factor FIP1 isoform 12
NM_001376753.1 NP_001363682.1 pre-mRNA 3'-end-processing factor FIP1 isoform 13
NM_001376754.1 NP_001363683.1 pre-mRNA 3'-end-processing factor FIP1 isoform 14
NM_001376755.1 NP_001363684.1 pre-mRNA 3'-end-processing factor FIP1 isoform 15
NM_001376756.1 NP_001363685.1 pre-mRNA 3'-end-processing factor FIP1 isoform 16
NM_001376757.1 NP_001363686.1 pre-mRNA 3'-end-processing factor FIP1 isoform 17
NM_001376758.1 NP_001363687.1 pre-mRNA 3'-end-processing factor FIP1 isoform 18
NM_001376759.1 NP_001363688.1 pre-mRNA 3'-end-processing factor FIP1 isoform 19
NM_001376760.1 NP_001363689.1 pre-mRNA 3'-end-processing factor FIP1 isoform 20
NM_001376761.1 NP_001363690.1 pre-mRNA 3'-end-processing factor FIP1 isoform 21
NM_001376762.1 NP_001363691.1 pre-mRNA 3'-end-processing factor FIP1 isoform 22
NM_001376764.1 NP_001363693.1 pre-mRNA 3'-end-processing factor FIP1 isoform 23
NM_001376765.1 NP_001363694.1 pre-mRNA 3'-end-processing factor FIP1 isoform 24
NM_001376766.1 NP_001363695.1 pre-mRNA 3'-end-processing factor FIP1 isoform 25
NM_001376767.1 NP_001363696.1 pre-mRNA 3'-end-processing factor FIP1 isoform 26
NM_001376768.1 NP_001363697.1 pre-mRNA 3'-end-processing factor FIP1 isoform 27
NM_001376769.1 NP_001363698.1 pre-mRNA 3'-end-processing factor FIP1 isoform 28
NM_001376770.1 NP_001363699.1 pre-mRNA 3'-end-processing factor FIP1 isoform 29
NM_001376771.1 NP_001363700.1 pre-mRNA 3'-end-processing factor FIP1 isoform 30
NM_001376772.1 NP_001363701.1 pre-mRNA 3'-end-processing factor FIP1 isoform 31
NM_001376773.1 NP_001363702.1 pre-mRNA 3'-end-processing factor FIP1 isoform 32
NM_001376774.1 NP_001363703.1 pre-mRNA 3'-end-processing factor FIP1 isoform 33
NM_001376775.1 NP_001363704.1 pre-mRNA 3'-end-processing factor FIP1 isoform 34
NM_001376776.1 NP_001363705.1 pre-mRNA 3'-end-processing factor FIP1 isoform 35
NM_001376777.1 NP_001363706.1 pre-mRNA 3'-end-processing factor FIP1 isoform 36
NM_001376778.1 NP_001363707.1 pre-mRNA 3'-end-processing factor FIP1 isoform 37
NM_001376779.1 NP_001363708.1 pre-mRNA 3'-end-processing factor FIP1 isoform 38
NM_001376780.1 NP_001363709.1 pre-mRNA 3'-end-processing factor FIP1 isoform 39
NM_001376781.1 NP_001363710.1 pre-mRNA 3'-end-processing factor FIP1 isoform 40
NM_001376782.1 NP_001363711.1 pre-mRNA 3'-end-processing factor FIP1 isoform 41
NM_001376783.1 NP_001363712.1 pre-mRNA 3'-end-processing factor FIP1 isoform 42
NM_001376784.1 NP_001363713.1 pre-mRNA 3'-end-processing factor FIP1 isoform 43
NM_001376785.1 NP_001363714.1 pre-mRNA 3'-end-processing factor FIP1 isoform 44
NM_001376786.1 NP_001363715.1 pre-mRNA 3'-end-processing factor FIP1 isoform 45
NM_001410723.1 NP_001397652.1 pre-mRNA 3'-end-processing factor FIP1 isoform 46
NM_001410724.1 NP_001397653.1 pre-mRNA 3'-end-processing factor FIP1 isoform 47
NM_030917.4 NP_112179.2 pre-mRNA 3'-end-processing factor FIP1 isoform 1
基因本体论
  • 分子功能
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
15937220 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

FIP1L1 蛋白结构

Fip1

Fip1: Fip1 motif (139 - 182)

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  • 588 a.a.
蛋白主名 其他名称

pre-mRNA 3'-end-processing factor FIP1

FIP1 like 1

FIP1L1 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 FIP1L1 Q6UN15 GOLGA2 Homo sapiens Q08379
Y2H Prey Pooling
25416956
Intra FIP1L1 Q6UN15 CPSF4 Homo sapiens O95639
Anti Tag CoIP
26496610
Intra FIP1L1 Q6UN15 NAA10 Homo sapiens P41227
Validated Y2H
25416956
Intra FIP1L1 Q6UN15 NAA10 Homo sapiens P41227
Y2H Prey Pooling
25416956
Intra FIP1L1 Q6UN15 NAA10 Homo sapiens P41227
Y2H Array
25416956
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
Chronic Eosinophilic Leukemia

Pdgfra-Associated Chronic Eosinophilic Leukemia

Primary Hypereosinophilic Syndrome

Clonal Hypereosinophilic Syndrome

Hes-M

Hes-N

Neoplastic Hypereosinophilic Syndrome

Primary Hes

Hm Syndrome

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

Hypereosinophilic Syndrome

Eosinophilia

HES

Eosinophilic Leukocytosis

Hypereosinophilic Syndrome, Idiopathic

Idiopathic Hypereosinophilic Syndrome

Disseminated Eosinophilic Collagen Disease

Eosinophilic Disorder

Disorders With Increased Eosinophil Counts

Hypereosinophilic Syndrome, Idiopathic

Idiopathic Hypereosinophilic Syndrome

Hypereosinophilic Syndrome, Idiopathic, Resistant To Imatinib

HES

Mastocytosis, Cutaneous

Urticaria Pigmentosa

Cutaneous Mastocytosis

Diffuse Cutaneous Mastocytosis

Maculopapular Cutaneous Mastocytosis

Mastocytosis, Diffuse Cutaneous

MASTC

Mastocytosis, Maculopapular Cutaneous

Mastocytosis, Systemic, Somatic

Mastocytoma

Dcm

Diffuse Cutaneous Maculopapulous Mastocytosis

Up/Mpcm

Cm

Mastocytosis, Systemic

MASTSYS

Mast Cell Disease

Mast-Cell Disease

Mast Cell Leukemia

Mastocytosis, Indolent

Mastocytosis With Associated Hematologic Disorder

Mast Cell Neoplasm

Benign Mastocytoma

Loeffler Endocarditis

Eosinophilic Endomyocardial Disease

Eosinophilic Endocarditis

Loeffler'S Endocarditis

Primary Eosinophilic Endomyocardial Restrictive Cardiomyopathy

Stress Polycythemia

Gaisbock'S Syndrome

Polycythemia, Emotional

Pseudopolycythaemia

Gaisboeck'S Syndrome

Pseudopolycythemia

Gaisbock Syndrome

Stress Erythrocytosis

Pseudo-Polycythemia

Relative Erythrocytosis

Systemic Mastocytosis

Systemic Mast Cell Disease

Systemic Tissue Mast Cell Disease

Mastocytosis, Systemic

Smcd - Systemic Mast Cell Disease

Smcd

Mast Cell Disease, Systemic

Systemic Mast-Cell Disease

Systemic Mastocytoses

Mastocytosis Systemic

Corneal Dystrophy, Subepithelial Mucinous

Smcd - [Systemic Mast Cell Disease]

Myeloid And Lymphoid Neoplasms With Eosinophilia And Abnormalities Of Pdgfra, Pdgfrb, And Fgfr1

Myeloid And Lymphoid Neoplasms With Eosinophilia And Abnormalities Of Platelet-Derived Growth Factor Receptor Alpha , Platelet-Derived Growth Factor Receptor Beta , And Fibroblast Growth Factor Receptor-1 Are A Group Of Hematologic Neoplasms

Myeloid And Lymphoid Neoplasms With Eosinophilia And Rearrangement Of Pdgfra, Pdgfrb, Or Fgfr1, Or With Pcm1-Jak2

Mastocytosis

Mast Cell Disease

Mast Cell Hyperplasia

Urticaria Pigmentosa

Malignant Mastocytoma

Malignant Mast Cell Tumours

Malignant Mastocytosis

Budd-Chiari Syndrome

Hepatic Vein Thrombosis

Chiari Syndrome

BDCHS

Membranous Obstruction Of The Inferior Vena Cava

Budd-Chiari Syndrome, Somatic

Movc

Budd-Chiari Syndrome, Susceptibility To, Somatic

Budd-Chiari Syndrome, Susceptibility To

Membranous Obstruction Of Inferior Vena Cava

Hepatic Vein Block

Obstruction Of Hepatic Veins

Hepatic Vein Obstruction

Hepatic Venous Block

Disseminated Eosinophilic Collagen Disease
Sm-Ahnmd

Systemic Mastocytosis With Associated Clonal, Hematologic Non-Mast-Cell Lineage Disease

Systemic Mastocytosis With Associated Clonal Haematological Non-Mast Cell Lineage Disease

Systemic Mastocytosis With Associated Clonal Hematological Non-Mast-Cell Lineage Disease

Endomyocardial Fibrosis

Becker'S Disease

Obscure African Cardiomyopathy

African Endomyocardial Fibrosis

Endomyocardial Sclerosis

EMF

Becker Muscular Dystrophy

Myeloid And Lymphoid Neoplasms Associated With Pdgfra Rearrangement

Myeloid/Lymphoid Neoplasm Associated With Pdgfra Rearrangement

Myeloid And Lymphoid Neoplasms With Pdgfra Rearrangement

Toxocariasis

Toxocara Infection

Visceral Larva Migrans

Larva Migrans, Visceral

Infection By Toxascaris

Larva Migrans Visceral

Larva Migrans Visceralis

Toxocaral Visceral Larva Migrans

Visceral Larva Migrans Syndrome

Toxocara Infestation

Extracutaneous Mastocytoma

Mastocytoma

Mast Cell Neoplasm

Benign Mastocytoma

Indolent Systemic Mastocytosis

Ism

Myeloproliferative Disorder, Chronic, With Eosinophilia

Myeloproliferative Disorder With Eosinophilia

MPE

Emp

Eosinophils, Malignant Proliferation Of

Chronic Myeloproliferative Disorder With Eosinophilia

Chronic Myeloproliferative Disease, Unclassifiable

Cmpd-U

Undifferentiated Myeloproliferative Disease

Myeloproliferative Disorder Chronic With Eosinophilia

Malignant Proliferation Of Eosinophils

Myeloproliferative Neoplasm, Unclassifiable

Chronic Eosinophilic Pneumonia

Carrington Syndrome

Idiopathic Chronic Eosinophilic Pneumonia

Cryptogenic Pulmonary Eosinophilia

Idiopathic Eosinophilic Chronic Pneumopathy

Carrington'S Disease

Carrington'S Pulmonary Eosinophilia

Chronic Idiopathic Eosinophilic Pneumonia

Eosinophilic Idiopathic Chronic Pneumopathy

Eosinophilic Pneumonia Chronic

Chronic Leukemia

Adult Chronic Leukemia

Cll

Cml

Loeffler Syndrome

Loeffler'S Pneumonia

Loffler'S Syndrome

Simple Pulmonary Eosinophilia

Aggressive Systemic Mastocytosis

Asm

Lymphadenopathic Mastocytosis With Eosinophilia

Mast-Cell Sarcoma

Mast Cell Sarcoma

Polycythemia Vera

PV

Polycythemia Rubra Vera

Prv

Osler-Vaquez Disease

Chronic Erythremia

Polycythaemia Rubra Vera

Primary Polycythemia

Vaquez Disease

Polycythemia Vera, Somatic

Osler-Vaquez Syndrome

Proliferative Polycythaemia

Polycythemia Ruba Vera

Acquired Primary Erythrocytosis

Heilmeyer-Schoner Disease

Vaquez Osler Disease

Primary Polycythaemia

Eosinophilic Gastroenteritis

Eosinophilic Enteritis

Ege

Eosinophilic Gastroenterocolitis

Eosinophilic Esophagitis

Eosinophilic Gastritis

Eosinophilic Gastroenteropathy

Gastroenteritis, Eosinophilic

Eosinophilic Enteropathy

Eosinophilic Pneumonia

Pneumonia, Eosinophilic

Pulmonary Eosinophilia

Asthmatic Pulmonary Eosinophilia

Pneumonia Eosinophilic

Simple Pulmonary Eosinophilia

Eosinophilic Asthma

Sarcocystosis

Sarcosporidiosis

Sarcosporidiasis

Eosinophilic Gastritis

Eosinophilic Enteropathy

Eosinophilia-Myalgia Syndrome

Eosinophilia Myalgia Syndrome

Ems

L-Tryptophan Induced Ems

Severe Muscle Pain And Abnormally High Eosinophils

Syndrome With Inflammatory And Autoimmune Components That Affect The Skin, Fascia, Muscle, Nerve, Blood Vessels, Lung, And Heart

Mononeuritis Multiplex
Restrictive Cardiomyopathy

Familial Restrictive Cardiomyopathy

Cardiomyopathy, Restrictive

Cardiomyopathy, Constrictive

Primary Restrictive Cardiomyopathy

Rcm

Cardiomyopathy Restrictive

Corneal Dystrophy, Subepithelial Mucinous

Subepithelial Mucinous Corneal Dystrophy

SMCD

Leukocyte Disease

Leukocyte Disorders

Granulomatosis With Polyangiitis

GPA

Wegener Granulomatosis

Wegener Granulomatosis, Formerly

Midline Granulomatosis

Wg, Formerly

Necrotizing Respiratory Granulomatosis

Wg

Wegeners Granulomatosis

Pauci-Immune Glomerulonephritis Associated With Granulomatosis With Polyangiitis

Chronic Myelomonocytic Leukemia

Leukemia, Myelomonocytic, Chronic

Cmml

Leukemia Myelomonocytic Chronic

Cmml - [Chronic Myelomonocytic Leukaemia]

Chronic Myelomonocytic Leukaemia Without Mention Of Remission

Chronic Monocytic Leukaemia

Chronic Monocytoid Leukaemia

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

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
Mus musculus FIP1L1 MGD MGI:1914149
Felis catus FIP1L1 VGNC VGNC:78498
Bos taurus FIP1L1 VGNC VGNC:53714
Canis familiaris FIP1L1 VGNC VGNC:40883
Rattus norvegicus FIP1L1 RGD RGD:1309336
Others FIP1L1 NCBI