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Aliases for AGFG1 Gene

Aliases for AGFG1 Gene

  • ArfGAP With FG Repeats 1 2 3 5
  • Arf-GAP Domain And FG Repeat-Containing Protein 1 3 4
  • Rev/Rex Activation Domain-Binding Protein 3 4
  • Nucleoporin-Like Protein RIP 3 4
  • HIV-1 Rev-Binding Protein 3 4
  • Rev-Interacting Protein 3 4
  • HRB 3 4
  • RAB 3 4
  • RIP 3 4
  • Arf-GAP Domain And FG Repeats-Containing Protein 1 3
  • Rab, Rev/Rex Activation Domain-Binding Protein 3
  • HRIP, Rev Interacting Protein 3
  • HIV-1 Rev Binding Protein 2

External Ids for AGFG1 Gene

Previous HGNC Symbols for AGFG1 Gene

  • HRB

Previous GeneCards Identifiers for AGFG1 Gene

  • GC02P228046
  • GC02P228336
  • GC02P220179

Summaries for AGFG1 Gene

Entrez Gene Summary for AGFG1 Gene

  • 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]

GeneCards Summary for AGFG1 Gene

AGFG1 (ArfGAP With FG Repeats 1) is a Protein Coding gene. Diseases associated with AGFG1 include Choroideremia and Warburg Micro Syndrome 4. Among its related pathways are Vesicle-mediated transport and Clathrin-mediated endocytosis. Gene Ontology (GO) annotations related to this gene include RNA binding. An important paralog of this gene is AGFG2.

UniProtKB/Swiss-Prot for AGFG1 Gene

  • Required for vesicle docking or fusion during acrosome biogenesis (By similarity). May play a role in RNA trafficking or localization. In case of infection by HIV-1, acts as a cofactor for viral Rev and promotes movement of Rev-responsive element-containing RNAs from the nuclear periphery to the cytoplasm. This step is essential for HIV-1 replication.

Gene Wiki entry for AGFG1 Gene

Additional gene information for AGFG1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AGFG1 Gene

Genomics for AGFG1 Gene

GeneHancer (GH) Regulatory Elements for AGFG1 Gene

Promoters and enhancers for AGFG1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J227471 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 600.7 +1.0 1022 5.1 SP1 ZFX CC2D1A CTCF ELF3 NKRF CEBPG RERE ZNF24 TFE3 AGFG1 MIR5703 RHBDD1 TM4SF20 GC02M227489
GH02J227384 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 22.8 -84.9 -84935 6.1 MAFK ELF1 CREM IKZF1 NFE2L2 REST HDAC1 PKNOX1 BRCA1 CEBPB SCYGR1 AGFG1 TM4SF20 MFF CCL20
GH02J227414 Enhancer 1 FANTOM5 ENCODE 26.6 -56.2 -56226 3.3 BACH1 MAFK ZNF644 ZNF512 ZIC2 NFE2L2 ZNF316 SOX13 CEBPB NFE2 AGFG1 TM4SF20 CCL20 SCYGR1 MIR5703
GH02J227449 Enhancer 1.3 ENCODE dbSUPER 18.9 -21.0 -21013 3.4 ZNF652 CC2D1A ELF3 ZKSCAN8 CBFA2T2 ZNF148 CEBPG RERE GTF2F1 BACH1 AGFG1 MIR5703 SCYGR1
GH02J227428 Enhancer 1 Ensembl ENCODE 20 -41.9 -41851 3.8 CEBPG SP1 ZNF644 RXRA ZNF512 CEBPA GATAD2A RCOR2 FOXA2 SOX13 AGFG1 TM4SF20 MFF SCYGR1 MIR5703
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AGFG1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the AGFG1 gene promoter:
  • aMEF-2
  • AML1a
  • AP-1
  • ATF-2
  • c-Jun
  • FOXD3
  • FOXF2
  • IRF-2
  • MEF-2A
  • POU3F2

Genomic Locations for AGFG1 Gene

Genomic Locations for AGFG1 Gene
chr2:227,472,152-227,561,222
(GRCh38/hg38)
Size:
89,071 bases
Orientation:
Plus strand
chr2:228,336,868-228,425,938
(GRCh37/hg19)
Size:
89,071 bases
Orientation:
Plus strand

Genomic View for AGFG1 Gene

Genes around AGFG1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AGFG1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AGFG1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AGFG1 Gene

Proteins for AGFG1 Gene

  • Protein details for AGFG1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P52594-AGFG1_HUMAN
    Recommended name:
    Arf-GAP domain and FG repeat-containing protein 1
    Protein Accession:
    P52594
    Secondary Accessions:
    • B3KUL1
    • E9PHX7
    • Q15277
    • Q4VAS0
    • Q4VAS1
    • Q4VAS3
    • Q53QT8
    • Q53R11

    Protein attributes for AGFG1 Gene

    Size:
    562 amino acids
    Molecular mass:
    58260 Da
    Quaternary structure:
    • Interacts with EPS15R and EPS15. Interacts with FCHO1.
    SequenceCaution:
    • Sequence=BAG53473.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing within exon 1.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for AGFG1 Gene

    Alternative splice isoforms for AGFG1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AGFG1 Gene

Post-translational modifications for AGFG1 Gene

Antibody Products

  • Abcam antibodies for AGFG1
  • Boster Bio Antibodies for AGFG1
  • Santa Cruz Biotechnology (SCBT) Antibodies for AGFG1

No data available for DME Specific Peptides for AGFG1 Gene

Domains & Families for AGFG1 Gene

Gene Families for AGFG1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for AGFG1 Gene

Suggested Antigen Peptide Sequences for AGFG1 Gene

GenScript: Design optimal peptide antigens:
  • Rev/Rex activation domain-binding protein (AGFG1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P52594

UniProtKB/Swiss-Prot:

AGFG1_HUMAN :
  • Contains FG repeats. The FG repeat region is required for acting as a cofactor of HIV-1 Rev.
Domain:
  • Contains FG repeats. The FG repeat region is required for acting as a cofactor of HIV-1 Rev.
genes like me logo Genes that share domains with AGFG1: view

Function for AGFG1 Gene

Molecular function for AGFG1 Gene

UniProtKB/Swiss-Prot Function:
Required for vesicle docking or fusion during acrosome biogenesis (By similarity). May play a role in RNA trafficking or localization. In case of infection by HIV-1, acts as a cofactor for viral Rev and promotes movement of Rev-responsive element-containing RNAs from the nuclear periphery to the cytoplasm. This step is essential for HIV-1 replication.

Phenotypes From GWAS Catalog for AGFG1 Gene

Gene Ontology (GO) - Molecular Function for AGFG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003723 RNA binding TAS 7634337
GO:0005096 GTPase activator activity IEA --
GO:0005515 protein binding IPI 11545741
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with AGFG1: view
genes like me logo Genes that share phenotypes with AGFG1: view

Animal Models for AGFG1 Gene

MGI Knock Outs for AGFG1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AGFG1

Clone Products

  • Applied Biological Materials (abm): Clones for AGFG1 - Now 50% OFF >
  • * AGFG1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * AGFG1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for AGFG1 Gene

Localization for AGFG1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AGFG1 Gene

Nucleus. Cytoplasmic vesicle.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AGFG1 gene
Compartment Confidence
nucleus 5
cytosol 4
plasma membrane 2
endosome 2
lysosome 2
golgi apparatus 2
cytoskeleton 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for AGFG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005643 nuclear pore TAS 7637788
GO:0005829 cytosol TAS --
GO:0031410 cytoplasmic vesicle IBA 21873635
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with AGFG1: view

Pathways & Interactions for AGFG1 Gene

genes like me logo Genes that share pathways with AGFG1: view

Gene Ontology (GO) - Biological Process for AGFG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001675 acrosome assembly IEA --
GO:0006406 mRNA export from nucleus TAS 7634337
GO:0007275 multicellular organism development IEA --
GO:0007283 spermatogenesis IEA --
GO:0007289 spermatid nucleus differentiation IEA --
genes like me logo Genes that share ontologies with AGFG1: view

No data available for SIGNOR curated interactions for AGFG1 Gene

Drugs & Compounds for AGFG1 Gene

(19) Drugs for AGFG1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(10) Additional Compounds for AGFG1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with AGFG1: view

Transcripts for AGFG1 Gene

Unigene Clusters for AGFG1 Gene

ArfGAP with FG repeats 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AGFG1

Clone Products

  • Applied Biological Materials (abm): Clones for AGFG1 - Now 50% OFF >
  • * AGFG1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * AGFG1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

Alternative Splicing Database (ASD) splice patterns (SP) for AGFG1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b
SP1: -
SP2: -
SP3:
SP4:
SP5: - -

Relevant External Links for AGFG1 Gene

GeneLoc Exon Structure for
AGFG1
ECgene alternative splicing isoforms for
AGFG1

Expression for AGFG1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AGFG1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AGFG1 Gene

This gene is overexpressed in Whole Blood (x8.1).

Protein differential expression in normal tissues from HIPED for AGFG1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (10.8), Monocytes (6.8), CD8 Tcells (6.5), and Bone marrow stromal cell (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for AGFG1 Gene



Protein tissue co-expression partners for AGFG1 Gene

NURSA nuclear receptor signaling pathways regulating expression of AGFG1 Gene:

AGFG1

SOURCE GeneReport for Unigene cluster for AGFG1 Gene:

Hs.352962

mRNA Expression by UniProt/SwissProt for AGFG1 Gene:

P52594-AGFG1_HUMAN
Tissue specificity: Ubiquitously expressed.

Evidence on tissue expression from TISSUES for AGFG1 Gene

  • Blood(4.4)
  • Liver(4.4)
  • Nervous system(4.3)
  • Lung(2.6)
  • Bone marrow(2.4)
  • Heart(2)
  • Intestine(2)
  • Kidney(2)
  • Muscle(2)
genes like me logo Genes that share expression patterns with AGFG1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for AGFG1 Gene

Orthologs for AGFG1 Gene

This gene was present in the common ancestor of animals.

Orthologs for AGFG1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AGFG1 35 34
  • 99.64 (n)
OneToOne
cow
(Bos Taurus)
Mammalia AGFG1 35 34
  • 95.77 (n)
OneToOne
dog
(Canis familiaris)
Mammalia AGFG1 35 34
  • 95.6 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Agfg1 34
  • 92.9 (n)
mouse
(Mus musculus)
Mammalia Agfg1 17 35 34
  • 92.73 (n)
oppossum
(Monodelphis domestica)
Mammalia AGFG1 35
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AGFG1 35
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves AGFG1 35 34
  • 84.19 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AGFG1 35
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia agfg1 34
  • 74.48 (n)
Str.10746 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.31956 34
zebrafish
(Danio rerio)
Actinopterygii agfg1a 35 34
  • 66.3 (n)
OneToMany
agfg1b 35
  • 58 (a)
OneToMany
hrb 34
fruit fly
(Drosophila melanogaster)
Insecta drongo 35
  • 21 (a)
OneToMany
Species where no ortholog for AGFG1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for AGFG1 Gene

ENSEMBL:
Gene Tree for AGFG1 (if available)
TreeFam:
Gene Tree for AGFG1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AGFG1: view image

Paralogs for AGFG1 Gene

(3) SIMAP similar genes for AGFG1 Gene using alignment to 4 proteins:

  • AGFG1_HUMAN
  • B8ZZY2_HUMAN
  • C9J2I0_HUMAN
  • H7C0S7_HUMAN
genes like me logo Genes that share paralogs with AGFG1: view

Variants for AGFG1 Gene

Sequence variations from dbSNP and Humsavar for AGFG1 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000005669 -- 227,478,793(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000017734 -- 227,534,010(+) A/G intron_variant
rs1000112242 -- 227,485,233(+) C/T genic_upstream_transcript_variant, intron_variant
rs1000163107 -- 227,544,598(+) G/A/T intron_variant
rs1000199318 -- 227,490,812(+) G/A genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for AGFG1 Gene

Variant ID Type Subtype PubMed ID
esv3302833 CNV tandem duplication 20981092
esv3594539 CNV loss 21293372
nsv834560 CNV loss 17160897
nsv834561 CNV gain 17160897
nsv953194 CNV duplication 24416366

Variation tolerance for AGFG1 Gene

Residual Variation Intolerance Score: 17.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.71; 32.57% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AGFG1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
AGFG1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AGFG1 Gene

Disorders for AGFG1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for AGFG1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
choroideremia
  • choroidal sclerosis
warburg micro syndrome 4
  • warbm4
hypotrichosis 3
  • hypt3
progressive bulbar palsy
  • progressive bulbar atrophy
neuropathy, hereditary sensory and autonomic, type iia
  • hsan2a
- elite association - COSMIC cancer census association via MalaCards
Search AGFG1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for AGFG1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with AGFG1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AGFG1 Gene

Publications for AGFG1 Gene

  1. The eps15 homology (EH) domain-based interaction between eps15 and hrb connects the molecular machinery of endocytosis to that of nucleocytosolic transport. (PMID: 10613896) Doria M … Di Fiore PP (The Journal of cell biology 1999) 3 4 23 58
  2. A human nucleoporin-like protein that specifically interacts with HIV Rev. (PMID: 7637788) Fritz CC … Green MR (Nature 1995) 2 3 4 58
  3. Investigation of genetic variants within candidate genes of the TNFRSF1B signalling pathway on the response to anti-TNF agents in a UK cohort of rheumatoid arthritis patients. (PMID: 19262425) Bowes JD … BRAGGSS (Pharmacogenetics and genomics 2009) 3 45 58
  4. Role of HRB in clathrin-dependent endocytosis. (PMID: 18819912) Chaineau M … Galli T (The Journal of biological chemistry 2008) 3 23 58
  5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 58

Products for AGFG1 Gene

Sources for AGFG1 Gene

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