1. Gene
  2. AGGF1 - angiogenic factor with G-patch and FHA domains 1 Gene

AGGF1 - angiogenic factor with G-patch and FHA domains 1 Gene

中文名称:具有 G-patch 和 FHA 结构域 1 的血管生成因子

种属: Homo sapiens

同用名: VG5Q; GPATC7; GPATCH7; HSU84971; HUS84971

基因 ID: 55109 | 基因类型: protein coding

关于 AGGF1

Cytogenetic location: 5q13.3 Genomic coordinates (GRCh38): 5:77,030,404-77,065,234 (from NCBI)

This gene has 4 transcripts (splice variants), 203 orthologues and is associated with 1 phenotype. Ubiquitous expression in testis (RPKM 13.2), brain (RPKM 10.3) and 25 other tissues.

功能概要

该基因编码一种促进内皮细胞增殖的血管生成因子。该基因的突变与 Klippel-Trenaunay 综合征的易感性有关。在 3、4、10 和 16 号染色体上发现了该基因的假基因。[RefSeq 提供,2010 年 9 月]

This gene encodes an angiogenic factor that promotes proliferation of endothelial cells. Mutations in this gene are associated with a susceptibility to Klippel-Trenaunay syndrome. Pseudogenes of this gene are found on chromosomes 3, 4, 10 and 16.[provided by RefSeq, Sep 2010]

AGGF1 基因产物(1)

mRNA Protein Name
NM_018046.5 NP_060516.2 angiogenic factor with G patch and FHA domains 1
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 protein binding IPI
IPI: 通过物理相互作用推断
14961121 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cell adhesion IDA
IDA: 通过直接分析推断
14961121 GOA
involved in positive regulation of angiogenesis IDA
IDA: 通过直接分析推断
14961121 GOA
involved in positive regulation of endothelial cell proliferation IDA
IDA: 通过直接分析推断
14961121 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
14961121 GOA
located in extracellular region IDA
IDA: 通过直接分析推断
14961121 GOA
located in perinuclear region of cytoplasm IDA
IDA: 通过直接分析推断
14961121 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

AGGF1 蛋白结构

FHA

FHA: FHA domain (435 - 508)

G-patch

G-patch: G-patch domain (620 - 662)

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

angiogenic factor with G patch and FHA domains 1

G patch domain-containing protein 7

AGGF1 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 AGGF1 Q8N302 MAB21L3 Homo sapiens Q8N8X9
Y2H Array
31515488
Intra AGGF1 Q8N302 MAB21L3 Homo sapiens Q8N8X9
Validated Y2H
32296183
Intra AGGF1 Q8N302 MCRS1 Homo sapiens Q96EZ8
Validated Y2H
32296183
Intra AGGF1 Q8N302 FBXO28 Homo sapiens Q9NVF7
Validated Y2H
32296183
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
Klippel-Trenaunay-Weber Syndrome

Klippel-Trenaunay Syndrome

KTS

Ktw Syndrome

Angioosteohypertrophy Syndrome

Angio-Osteohypertrophy Syndrome

Klippel Trenaunay Syndrome

Klippel-Trénaunay-Weber Syndrome

Haemangiectatic Hypertrophy

Weber-Klippel-Trenaunay

Congenital Dysplastic Angiopathy

Klippel-Trenaunay Disease

Weber Klippel Trenaunay

Metatypical Basal Cell Carcinoma

Skin Metatypical Carcinoma

Basosquamous Carcinoma Of Skin

Skin Metatypical Basal Cell Carcinoma

Frontal Convexity Meningioma
Varicose Veins

Varices

Varix

Venous Ectasia

Venous Varices

Varicosity

Angiokeratoma Circumscriptum
Venous Malformations, Multiple Cutaneous And Mucosal

VMCM

Multiple Cutaneous And Mucosal Venous Malformations

Mucocutaneous Venous Malformations

Vmcm1

Cutaneous And Mucosal Venous Malformation

Dominantly Inherited Venous Malformations

Hemangioma Of Subcutaneous Tissue

Angioma Of The Subcutaneous Tissue

Subcutaneous Haemangioma

Subcutaneous Hemangioma

Thrombocytopenia With Beta-Thalassemia, X-Linked

XLTT

Thrombocytopenia, Platelet Dysfunction, Hemolysis, And Imbalanced Globin Synthesis

Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome

Gata1-Related X-Linked Cytopenia

X-Linked Thrombocytopenia With Beta-Thalassemia

Thrombocytopenia Platelet Dysfunction Hemolysis And Imbalanced Globin Synthesis

Capillary Lymphangioma

Microcystic Lymphatic Malformation

Capillary Lymphatic Malformation

Microcystic Infiltrating Lymphatic Malformation

Microcystic Lymphangioma

Superficial Lymphangioma

Cutaneous Lymphangioma Circumscriptum

Superficial Lymphatic Malformation

Cutaneous Lymphangioma

Lymphangioma Of Skin

Lymphangioma Circumscriptum

Multiple Enchondromatosis, Maffucci Type

Maffucci Syndrome

Chondrodysplasia With Hemangioma

Chondroplasia Angiomatosis

Enchondromatosis With Hemangiomata

Hemangiomatosis Chondrodystrophica

Kast Syndrome

Multiple Angiomas And Endochondromas

Dyschondrodysplasia With Hemangiomas

Enchondromatosis Type Ii

Enchondromatosis With Multiple Cavernous Hemangiomas

Dyschondroplasia And Cavernous Hemangioma

Hemangiomata With Dyschondroplasia

Angiomatous Meningioma
Proteus Syndrome

Proteus Syndrome, Somatic

Partial Gigantism-Nevi-Hemihypertrophy-Macrocephaly Syndrome

Gigantism, Partial, Of Hands And Feet, Nevi, Hemihypertrophy, And Macrocephaly

Wiedemann'S Syndrome

Hemihypertrophy And Macrocephaly

Partial Gigantism Of Hands And Feet, Nevi, Hemihypertrophy, Macrocephaly

Ps

PROTEUSS

Partial Gigantism Of Hands And Feet Nevi Hemihypertrophy And Macrocephaly

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
Rattus norvegicus AGGF1 RGD RGD:1310888
Canis familiaris AGGF1 VGNC VGNC:37702
Mus musculus AGGF1 MGD MGI:1913799
Bos taurus AGGF1 VGNC VGNC:25727