AGFG1 - ArfGAP with FG repeats 1 Gene

Also Known as HRB; RAB; RIP

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3267

About AGFG1

Cytogenetic location: 2q36.3 Genomic coordinates (GRCh38): 2:227,472,156-227,561,217 (from NCBI)

This gene has 8 transcripts (splice variants), 281 orthologues and 28 paralogues. Broad expression in bone marrow (RPKM 27.1), testis (RPKM 16.3) and 24 other tissues.

Summary

The protein encoded by this gene is related to nucleoporins, a class of proteins that mediate nucleocytoplasmic transport. The encoded protein binds the activation domain of the human immunodeficiency virus Rev protein when Rev is assembled onto its RNA target, and is required for the nuclear export of Rev-directed RNAs. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]

AGFG1 Products (4)

mRNA	Protein	Name
NM_001135187.2	NP_001128659.1	arf-GAP domain and FG repeat-containing protein 1 isoform 1
NM_001135188.2	NP_001128660.1	arf-GAP domain and FG repeat-containing protein 1 isoform 3
NM_001135189.2	NP_001128661.1	arf-GAP domain and FG repeat-containing protein 1 isoform 4
NM_004504.5	NP_004495.2	arf-GAP domain and FG repeat-containing protein 1 isoform 2

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	11545741	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

AGFG1 Protein Structure

ArfGap

0
100
200
300
400
500
562 a.a.

Protein Preferred Names	Protein Names
arf-GAP domain and FG repeat-containing protein 1	HIV-1 Rev-binding protein

AGFG1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	AGFG1	P52594	NYAP2	Homo sapiens	Q9P242	Y2H Prey Pooling	25416956
Intra	AGFG1	P52594	NYAP2	Homo sapiens	Q9P242	Validated Y2H	25416956
Intra	AGFG1	P52594	NYAP2	Homo sapiens	Q9P242	Y2H Array	25416956
Intra	AGFG1	P52594	VAMP7	Homo sapiens	P51809	Y2H	18775314
Intra	AGFG1	P52594	VAMP7	Homo sapiens	P51809	Pull Down	18775314
Intra	AGFG1	P52594	POLE2	Homo sapiens	P56282	Y2H Prey Pooling	25416956
Intra	AGFG1	P52594	POLE2	Homo sapiens	P56282	Y2H Array	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Choroideremia	CHM Tcd Progressive Tapetochoroidal Dystrophy Choroidal Sclerosis Tapetochoroidal Dystrophy, Progressive Progressive Choroidal Atrophy Tapetochoroidal Dystrophy
Griscelli Syndrome, Type 2	Griscelli Syndrome Type 2 GS2 Griscelli Syndrome With Hemophagocytic Syndrome Partial Albinism And Immunodeficiency Syndrome Paid Syndrome Hypopigmentation-Immunodeficiency With Or Without Neurologic Impairment Syndrome Griscelli-Prunieras Syndrome Type 2 Griscelli-Pruniéras Syndrome Type 2 Griscelli Syndrome 2
Spermatogenic Failure 9	Male Infertility Due To Globozoospermia SPGF9 Male Infertility Due To Round-Headed Spermatozoa Globozoospermia, Complete Globozoospermia, Total Globozoospermia Globozoospermia Syndrome Round-Headed Sperm Syndrome Globozoospermia Complete Globozoospermia Total
Chronic Meningitis
Hermansky-Pudlak Syndrome	Hps Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells Hermanski-Pudlak Syndrome Hermansky Pudlak Syndrome Platelet Storage Pool Deficiency
Hypotrichosis 3	HYPT3 Hypotrichosis Simplex Of The Scalp 2 Htss2 Hypotrichosis, Type 3
Testicular Leukemia
Retinal Degeneration	Degeneration Of Retina
Intellectual Developmental Disorder, Autosomal Dominant 5	MRD5 Autosomal Dominant Non-Syndromic Intellectual Disability 5 Intellectual Disability, Autosomal Dominant 5 Mental Retardation, Autosomal Dominant 5 Autosomal Dominant Intellectual Developmental Disorder 5 Syngap1-Related Non-Syndromic Intellectual Disability Autosomal Dominant Intellectual Disability 5 Syngap1 Syndrome Syngap1-Related Nsid Syngap1 Gene Mutation Linked To Intellectual Disability, Schizophrenia And Autism
Autoimmune Disease Of Peripheral Nervous System
Spermatogenic Failure	Azoospermia Spgf Spermatogenic Failure, Susceptibility To Absent Sperm Aspermatogenesis Infertility Due To Azoospermia Hypospermatogenesis Azoospermatism

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00445	AGFG1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22381	Agfg1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28905	Agfg1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	AGFG1	VGNC	VGNC:69816
Rattus norvegicus	AGFG1	RGD	RGD:1560041
Felis catus	AGFG1	VGNC	VGNC:67645
Mus musculus	AGFG1	MGD	MGI:1333754
Canis familiaris	AGFG1	VGNC	VGNC:37700
Bos taurus	AGFG1	VGNC	VGNC:25725
Others	AGFG1	NCBI