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

Also Known as VG5Q; GPATC7; GPATCH7; HSU84971; HUS84971

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 55109

About 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.

Summary

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 Products (1)

mRNA Protein Name
NM_018046.5 NP_060516.2 angiogenic factor with G patch and FHA domains 1
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
14961121 GOA
Biological Process GO Annotation Evidence References Source
involved in cell adhesion IDA
IDA: Inferred from direct assay
14961121 GOA
involved in positive regulation of angiogenesis IDA
IDA: Inferred from direct assay
14961121 GOA
involved in positive regulation of endothelial cell proliferation IDA
IDA: Inferred from direct assay
14961121 GOA
Cellular Component GO Annotation Evidence References Source
located in cytoplasm IDA
IDA: Inferred from direct assay
14961121 GOA
located in extracellular region IDA
IDA: Inferred from direct assay
14961121 GOA
located in perinuclear region of cytoplasm IDA
IDA: Inferred from direct assay
14961121 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

AGGF1 Protein Structure

FHA

FHA: FHA domain (435 - 508)

G-patch

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

  • 0
  • 200
  • 400
  • 600
  • 714 a.a.
Protein Preferred Names Protein Names

angiogenic factor with G patch and FHA domains 1

  • G patch domain-containing protein 7

AGGF1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
AGGF1 Q8N302 MAB21L3 Homo sapiens Q8N8X9 31515488
Intra
AGGF1 Q8N302 MAB21L3 Homo sapiens Q8N8X9 32296183
Intra
AGGF1 Q8N302 MCRS1 Homo sapiens Q96EZ8 32296183
Intra
AGGF1 Q8N302 FBXO28 Homo sapiens Q9NVF7 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
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

Diseases Alias
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

Orthologs Information

Species Symbol Source 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
Others AGGF1 NCBI