1. Gene
  2. AGFG1 - ArfGAP with FG repeats 1 Gene

AGFG1 - ArfGAP with FG repeats 1 Gene

Homo sapiens

Also known as HRB; RAB; RIP

Gene ID: 3267 | Gene type: protein coding

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

AGFG1 Protein Structure

ArfGap

ArfGap: Putative GTPase activating protein for Arf (16 - 127)

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  • 500
  • 562 a.a.
Protein Preferred Names Protein Names

arf-GAP domain and FG repeat-containing protein 1

HIV-1 Rev-binding protein

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

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