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ARFGAP1 Gene(Protein Coding)

ADP Ribosylation Factor GTPase Activating Protein 1

GCID:
GC20P063272
GIFtS:
47
Genes Participants
UDN Logo

Aliases for ARFGAP1 Gene

Aliases for ARFGAP1 Gene

  • ADP Ribosylation Factor GTPase Activating Protein 1 2 3 5
  • ARF1-Directed GTPase-Activating Protein 3 4
  • ARF1GAP 3 4
  • ADP-Ribosylation Factor GTPase-Activating Protein 1 3
  • ADP-Ribosylation Factor 1 GTPase-Activating Protein 4
  • ADP-Ribosylation Factor 1 GTPase Activating Protein 2
  • HRIHFB2281 3
  • ARF GAP 1 4
  • ARF1 GAP 4

External Ids for ARFGAP1 Gene

Previous HGNC Symbols for ARFGAP1 Gene

  • ARF1GAP

Previous GeneCards Identifiers for ARFGAP1 Gene

  • GC20P061781
  • GC20P062583
  • GC20P062630
  • GC20P061374
  • GC20P061904
  • GC20P058629

Summaries for ARFGAP1 Gene

Entrez Gene Summary for ARFGAP1 Gene

  • The protein encoded by this gene is a GTPase-activating protein, which associates with the Golgi apparatus and which interacts with ADP-ribosylation factor 1. The encoded protein promotes hydrolysis of ADP-ribosylation factor 1-bound GTP and is required for the dissociation of coat proteins from Golgi-derived membranes and vesicles. Dissociation of the coat proteins is required for the fusion of these vesicles with target compartments. The activity of this protein is stimulated by phosphoinosides and inhibited by phosphatidylcholine. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

GeneCards Summary for ARFGAP1 Gene

ARFGAP1 (ADP Ribosylation Factor GTPase Activating Protein 1) is a Protein Coding gene. Among its related pathways are Transport to the Golgi and subsequent modification and Arf1 pathway. Gene Ontology (GO) annotations related to this gene include GTPase activator activity.

UniProtKB/Swiss-Prot for ARFGAP1 Gene

  • GTPase-activating protein (GAP) for the ADP ribosylation factor 1 (ARF1). Involved in membrane trafficking and /or vesicle transport. Promotes hydrolysis of the ARF1-bound GTP and thus, is required for the dissociation of coat proteins from Golgi-derived membranes and vesicles, a prerequisite for vesicles fusion with target compartment. Probably regulates ARF1-mediated transport via its interaction with the KDELR proteins and TMED2. Overexpression induces the redistribution of the entire Golgi complex to the endoplasmic reticulum, as when ARF1 is deactivated. Its activity is stimulated by phosphoinosides and inhibited by phosphatidylcholine (By similarity).

Gene Wiki entry for ARFGAP1 Gene

Additional gene information for ARFGAP1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ARFGAP1 Gene

Genomics for ARFGAP1 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for ARFGAP1 Gene

Promoters and enhancers for ARFGAP1 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
GH20J063271 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 650.7 +0.6 568 2.8 HDGF PKNOX1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZBTB7B SLC30A9 ZNF143 NKAIN4 ARFGAP1 GMEB2 MRGBP DIDO1 PRPF6 RTEL1 ARFRP1 YTHDF1 TNFRSF6B
GH20J062352 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.9 -910.7 -910670 19.1 CLOCK MLX ZFP64 DMAP1 YY1 ZNF263 SP3 NFYC SSRP1 GLIS1 LAMA5 DIDO1 LAMA5-AS1 ARFGAP1 YTHDF1 TAF4 MTG2 CABLES2 OSBPL2 BHLHE23
GH20J063519 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12 +248.7 248671 4 HDGF PKNOX1 FOXA2 NEUROD1 SIN3A ZBTB7B YY1 POLR2B ZNF143 ZNF207 PPDPF GC20M063514 DIDO1 CICP4 GMEB2 PRPF6 RTEL1 MIR647 ARFRP1 UCKL1
GH20J063863 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 11.9 +592.1 592087 3.6 MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF416 ZNF143 DNAJC5 ENSG00000268858 TPD52L2 DIDO1 GMEB2 PRPF6 CICP4 RTEL1 MIR647 ARFRP1
GH20J062803 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 12 -467.2 -467216 3.7 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 ZBTB7B YY1 SLC30A9 ZNF263 OGFR OGFR-AS1 DIDO1 RTEL1 GMEB2 ARFGAP1 ARFRP1 YTHDF1 TAF4 MRGBP
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ARFGAP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ARFGAP1 gene promoter:
  • AP-1
  • c-Jun
  • ATF-2
  • MRF-2
  • c-Ets-1
  • HSF1short
  • HSF1 (long)

Genomic Locations for ARFGAP1 Gene

Genomic Locations for ARFGAP1 Gene
chr20:63,272,785-63,289,793
(GRCh38/hg38)
Size:
17,009 bases
Orientation:
Plus strand
chr20:61,904,137-61,921,142
(GRCh37/hg19)
Size:
17,006 bases
Orientation:
Plus strand

Genomic View for ARFGAP1 Gene

Genes around ARFGAP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARFGAP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ARFGAP1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ARFGAP1 Gene

Proteins for ARFGAP1 Gene

Products:

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  2. Protein
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  • Protein details for ARFGAP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N6T3-ARFG1_HUMAN
    Recommended name:
    ADP-ribosylation factor GTPase-activating protein 1
    Protein Accession:
    Q8N6T3
    Secondary Accessions:
    • B7Z3U0
    • B7Z8H8
    • B7ZBI3
    • E1P5I9
    • E7EV62
    • Q6PK71
    • Q96KC4
    • Q96T02
    • Q9NSU3
    • Q9NVF6
    • Q9UIL0

    Protein attributes for ARFGAP1 Gene

    Size:
    406 amino acids
    Molecular mass:
    44668 Da
    Quaternary structure:
    • Interacts with ARF1. Interacts with the COPI coat proteins, KDELR1 and TMED2. The interaction with TMED2 inhibits the GAP activity (By similarity).
    SequenceCaution:
    • Sequence=BAB55009.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB55113.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAB70901.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ARFGAP1 Gene

    Alternative splice isoforms for ARFGAP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ARFGAP1 Gene

Protein Expression for ARFGAP1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for ARFGAP1 Gene

  • Ubiquitination at posLast=278278 and Lys102
  • Modification sites at PhosphoSitePlus

Other Protein References for ARFGAP1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ARFGAP1 Gene

Domains & Families for ARFGAP1 Gene

Gene Families for ARFGAP1 Gene

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

Protein Domains for ARFGAP1 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ARFGAP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N6T3

UniProtKB/Swiss-Prot:

ARFG1_HUMAN :
  • The region downstream of Arf-GAP domain is essential to GAP activity in vivo. This region may be required for its targeting to Golgi membranes (By similarity).
Domain:
  • The region downstream of Arf-GAP domain is essential to GAP activity in vivo. This region may be required for its targeting to Golgi membranes (By similarity).
genes like me logo Genes that share domains with ARFGAP1: view

Function for ARFGAP1 Gene

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  2. CRISPR
  3. miRNA
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  6. Cell Line

Molecular function for ARFGAP1 Gene

UniProtKB/Swiss-Prot Function:
GTPase-activating protein (GAP) for the ADP ribosylation factor 1 (ARF1). Involved in membrane trafficking and /or vesicle transport. Promotes hydrolysis of the ARF1-bound GTP and thus, is required for the dissociation of coat proteins from Golgi-derived membranes and vesicles, a prerequisite for vesicles fusion with target compartment. Probably regulates ARF1-mediated transport via its interaction with the KDELR proteins and TMED2. Overexpression induces the redistribution of the entire Golgi complex to the endoplasmic reticulum, as when ARF1 is deactivated. Its activity is stimulated by phosphoinosides and inhibited by phosphatidylcholine (By similarity).

Phenotypes From GWAS Catalog for ARFGAP1 Gene

Gene Ontology (GO) - Molecular Function for ARFGAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IDA 22423108
GO:0005515 protein binding IPI 22363216
GO:0031267 small GTPase binding IBA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ARFGAP1: view
genes like me logo Genes that share phenotypes with ARFGAP1: view

Animal Model Products

miRNA for ARFGAP1 Gene

miRTarBase miRNAs that target ARFGAP1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ARFGAP1 Gene

Localization for ARFGAP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARFGAP1 Gene

Cytoplasm. Golgi apparatus. Note=Associates with the Golgi complex. {ECO:0000250}.

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 ARFGAP1 gene
Compartment Confidence
cytosol 5
golgi apparatus 5
nucleus 4

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
  • Vesicles (3)
  • Nuclear membrane (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ARFGAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IBA --
GO:0005737 cytoplasm IBA,IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005829 cytosol TAS --
GO:0014069 postsynaptic density IEA --
genes like me logo Genes that share ontologies with ARFGAP1: view

Pathways & Interactions for ARFGAP1 Gene

genes like me logo Genes that share pathways with ARFGAP1: view

Pathways by source for ARFGAP1 Gene

1 BioSystems pathway for ARFGAP1 Gene
1 KEGG pathway for ARFGAP1 Gene
2 Qiagen pathways for ARFGAP1 Gene
1 Cell Signaling Technology pathway for ARFGAP1 Gene

SIGNOR curated interactions for ARFGAP1 Gene

Activates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for ARFGAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
GO:0006890 retrograde vesicle-mediated transport, Golgi to ER TAS --
GO:0015031 protein transport IEA --
GO:0016192 vesicle-mediated transport IBA,IEA --
GO:0030100 regulation of endocytosis IEA --
genes like me logo Genes that share ontologies with ARFGAP1: view

Drugs & Compounds for ARFGAP1 Gene

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  1. Drug

(2) Drugs for ARFGAP1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
HJC 0350 Pharma 0

(5) Additional Compounds for ARFGAP1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
PC(18:1(9Z)e/2:0)
  • (2-Acetyloxy-3-octadec-9-enoxypropyl) 2-trimethylazaniumylethyl phosphate
  • 2-Acetyl-1-(9Z-octadecenyl)-sn-glycero-3-phosphocholine
  • PC(O-18:1(9Z)/2:0)
Phosphatidylcholines Group A
  • (Z,Z)-(1)-(7-Oleoyl-4-oxido-10-oxo-3,5,9-trioxa-4-phosphaheptacos-18-enyl)trimethylammonium 4-oxide
  • (Z,Z)-4-Hydroxy-N,N,N-trimethyl-10-oxo-7-[(1-oxo-9-octadecenyl)oxy]-3,5,9-trioxa-4-phosphaheptacos-18-en-1-aminium 4-oxide hydroxide inner salt
  • 1,2-Dioleoyl-rac-glycero-3-phosphocholine
  • 1,2-Dioleoylglycerol-3-phosphorylcholine
  • 1,2-Dioleoylglyceryl-3-phosphorylcholine
 68737-67-7
Phosphatidylcholines Group B
  • 1-Hexadecyl-2-(9Z,12Z-octadecadienoyl)-sn-glycero-3-phosphocholine
  • 2-(9Z,12Z-Octadecadienoyl)-1-hexadecyl-sn-glycero-3-phosphocholine
  • PC Ae C34:2
  • PC(16:0E/18:2(9Z,12Z))
  • PC(O-34:2)
 88542-95-4
genes like me logo Genes that share compounds with ARFGAP1: view

Transcripts for ARFGAP1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for ARFGAP1 Gene

(8) REFSEQ mRNAs :
(18) Additional mRNA sequences :
(445) Selected AceView cDNA sequences:
(23) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ARFGAP1 Gene

ADP-ribosylation factor GTPase activating protein 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ARFGAP1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b ·
SP1: - - - - - - -
SP2: - - - - - - - -
SP3: - - - - - - - -
SP4: - - - - - - - - - - - - -
SP5: - - - - - -
SP6: - - - - -
SP7: - - -
SP8: - -
SP9: -
SP10:
SP11: - - - - - - - - - - - - - - - - - - -
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:

ExUns: 15c · 15d ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20a · 20b ^ 21a · 21b ^ 22a · 22b ^ 23
SP1: - - - - -
SP2: - - - - -
SP3: - - -
SP4: - - - - -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10: - - -
SP11: - - - - - -
SP12:
SP13: - - -
SP14:
SP15:
SP16:
SP17:

Relevant External Links for ARFGAP1 Gene

GeneLoc Exon Structure for
ARFGAP1
ECgene alternative splicing isoforms for
ARFGAP1

Expression for ARFGAP1 Gene

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  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ARFGAP1 Gene

mRNA expression in normal human tissues for ARFGAP1 Gene
mRNA expression by BioGPS for ARFGAP1 GenemRNA expression by GTEx for ARFGAP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ARFGAP1 Gene

This gene is overexpressed in Bone (14.3), Peripheral blood mononuclear cells (6.6), and Bone marrow stromal cell (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ARFGAP1 Gene



Protein tissue co-expression partners for ARFGAP1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ARFGAP1 Gene:

ARFGAP1

SOURCE GeneReport for Unigene cluster for ARFGAP1 Gene:

Hs.25584

Evidence on tissue expression from TISSUES for ARFGAP1 Gene

  • Nervous system(5)
  • Liver(4.2)
  • Lung(2.2)
  • Skin(2.2)
genes like me logo Genes that share expression patterns with ARFGAP1: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ARFGAP1 Gene

Orthologs for ARFGAP1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ARFGAP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia ARFGAP1 34 33
  • 99.01 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Arfgap1 16 34 33
  • 85.77 (n)
dog
(Canis familiaris)
 Mammalia ARFGAP1 34 33
  • 85.14 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Arfgap1 33
  • 84.57 (n)
cow
(Bos Taurus)
 Mammalia ARFGAP1 33
  • 83.77 (n)
ARFGAP3 34
  • 81 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia ARFGAP1 34
  • 79 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia ARFGAP1 34
  • 78 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves ARFGAP1 34 33
  • 74.36 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia ARFGAP1 34
  • 76 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia arfgap1 33
  • 71.7 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.25766 33
zebrafish
(Danio rerio)
 Actinopterygii arfgap1 33
  • 64.82 (n)
ARFGAP1 34
  • 53 (a)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta CG6838 35
  • 38 (a)
Gap69C 34
  • 33 (a)
 OneToOne
worm
(Caenorhabditis elegans)
 Secernentea K02B12.7 34
  • 39 (a)
 OneToOne
F07F6.4 35
  • 37 (a)
A. gosspyii yeast
(Ashbya gossypii)
 Saccharomycetes AGOS_ABL164C 33
  • 50 (n)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes GCS1 36 34 33
  • 48.15 (n)
SPS18 34
  • 18 (a)
 OneToMany
K. lactis yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0D18942g 33
  • 47.73 (n)
bread mold
(Neurospora crassa)
 Ascomycetes NCU07734 33
  • 46.12 (n)
fission yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes SPCC622.14 33
  • 43.56 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.6254 34
  • 43 (a)
 OneToOne
Cin.11804 33
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.11804 33
Species where no ortholog for ARFGAP1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • 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 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)

Evolution for ARFGAP1 Gene

ENSEMBL:
Gene Tree for ARFGAP1 (if available)
TreeFam:
Gene Tree for ARFGAP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ARFGAP1: view image

Paralogs for ARFGAP1 Gene

(28) SIMAP similar genes for ARFGAP1 Gene using alignment to 12 proteins:

  • ARFG1_HUMAN
  • B7Z8H8_HUMAN
  • E5RGL6_HUMAN
  • E5RHC5_HUMAN
  • E5RHH7_HUMAN
  • E5RHT6_HUMAN
  • E5RIU2_HUMAN
  • E7EV62_HUMAN
  • F8VWB3_HUMAN
  • F8VWH9_HUMAN
  • F8W1U7_HUMAN
  • H0YIQ0_HUMAN
genes like me logo Genes that share paralogs with ARFGAP1: view

No data available for Paralogs for ARFGAP1 Gene

Variants for ARFGAP1 Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for ARFGAP1 Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs1000559806 -- 63,283,341(+) A/G genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000620740 -- 63,279,148(+) T/A genic_upstream_transcript_variant, intron_variant
rs1000624378 -- 63,287,468(+) G/A intron_variant
rs1000646106 -- 63,290,250(+) A/G downstream_transcript_variant
rs1000882496 -- 63,279,521(+) C/A genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ARFGAP1 Gene

Variant ID Type Subtype PubMed ID
esv2722903 CNV deletion 23290073
nsv3446 CNV deletion 18451855
nsv470560 CNV loss 18288195
nsv525279 CNV loss 19592680
nsv586563 CNV loss 21841781
nsv586564 CNV loss 21841781
nsv834032 CNV loss 17160897
nsv953306 CNV deletion 24416366
nsv9825 CNV gain 18304495

Variation tolerance for ARFGAP1 Gene

Residual Variation Intolerance Score: 93.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.97; 36.50% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ARFGAP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARFGAP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARFGAP1 Gene

Disorders for ARFGAP1 Gene

Additional Disease Information for ARFGAP1

ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for ARFGAP1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ARFGAP1 Gene

Publications for ARFGAP1 Gene

  1. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PMID: 16964243) Beausoleil SA … Gygi SP (Nature biotechnology 2006) 3 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 3 4 58
  5. Expression, purification, and properties of ADP-ribosylation factor (ARF) GTPase activating protein-1. (PMID: 11210549) Huber I … Cassel D (Methods in enzymology 2001) 2 3 58

Products for ARFGAP1 Gene