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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ARFGAP1 Gene

protein-coding GIFtS: 59
GCID: GC20P061904

ADP-ribosylation factor GTPase activating protein 1

(Previous name: ADP-ribosylation factor 1 GTPase activating protein )
(Previous symbol: ARF1GAP)

Explore 5 diseases affiliated with
ARFGAP1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
ADP-Ribosylation Factor GTPase Activating Protein 1¹ ²		ARF1-Directed GTPase-Activating Protein² ³
ARF1GAP¹ ² ³		FLJ10767¹
ADP-Ribosylation Factor 1 GTPase Activating Protein¹ ²		BA261N11.3¹
ADP-Ribosylation Factor 1 GTPase-Activating Protein² ³		HRIHFB2281²
ARF GAP 1² ³		ADP-Ribosylation Factor GTPase-Activating Protein 1²
ARF1 GAP² ³		GAP Protein²

External Ids:	HGNC: 15852¹	Entrez Gene: 55738²	Ensembl: ENSG00000101199⁷	OMIM: 608377⁵	UniProtKB: Q8N6T3³

Export aliases for ARFGAP1 gene to outside databases

Previous GC identifers: GC20P061781 GC20P062583 GC20P062630 GC20P061374 GC20P058629

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ARFGAP1:

The protein encoded by this gene is a GTPase-activating protein (GAP) which associates with the Golgi apparatus and

which interacts with ADP-ribosylation factor 1 (ARF1). The encoded protein promotes hydrolysis of ARF1-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. Two transcript variants encoding different

isoforms have been found for this gene. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: ARFG1_HUMAN, Q8N6T3

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 vesicle's 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

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000020.10 NC_018931.1 NT_011333.6

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ARFGAP1 gene promoter:
AP-1 ATF-2 HSF1 (long) HSF1short c-Jun MRF-2 c-Ets-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ARFGAP1 promoter sequence

Search SABiosciences Chromatin IP Primers for ARFGAP1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ARFGAP1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20q13.33 Ensembl cytogenetic band: 20q13.33 HGNC cytogenetic band: 20q13.33

ARFGAP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ARFGAP1 gene location

GeneLoc information about chromosome 20 GeneLoc Exon Structure

GeneLoc location for GC20P061904: view genomic region (about GC identifiers)

Start:	61,904,137 bp from pter	End:	61,921,142 bp from pter
Size:	17,006 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ARFG1_HUMAN, Q8N6T3 (See protein sequence)

Recommended Name: ADP-ribosylation factor GTPase-activating protein 1

Size: 406 amino acids; 44668 Da

Subunit: Interacts with ARF1. Interacts with the COPI coat proteins, KDELR1 and TMED2. The interaction with TMED2

inhibits the GAP activity (By similarity)

Subcellular location: Cytoplasm (By similarity). Golgi apparatus (By similarity). Note=Associates with the Golgi

complex (By similarity)

Sequence caution: Sequence=BAB55009.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

Sequence=BAB55113.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAB70901.1;

Type=Miscellaneous discrepancy; Note=Intron retention;

2 PDB 3D structures from and Proteopedia for ARFGAP1:

3DWD (3D)

3O47 (3D)

Secondary accessions: B7ZBI3 E1P5I9 Q6PK71 Q96KC4 Q96T02 Q9NSU3 Q9NVF6 Q9UIL0

Alternative splicing: 3 isoforms: Q8N6T3-1 Q8N6T3-2 Q8N6T3-3 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ARFGAP1: NX_Q8N6T3

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q8N6T3

ARFGAP1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_060679.1 NP_783202.1

ENSEMBL proteins:

ENSP00000359306 ENSP00000428355 ENSP00000449800 ENSP00000447037 ENSP00000429770

ENSP00000427717 ENSP00000359298 ENSP00000429674 ENSP00000314615 ENSP00000430929

ENSP00000449515 ENSP00000449849 ENSP00000430500 ENSP00000443716

Reactome Protein details: Q8N6T3
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	Uscn Proteins for ARFGAP1

Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005783	endoplasmic reticulum	IDA	--
GO:0005829	cytosol	TAS	--
GO:0005886	plasma membrane	IDA	--
GO:0030660	Golgi-associated vesicle membrane	TAS	--
GO:0031965	nuclear membrane	IDA	--

ARFGAP1 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for ARFGAP1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

ARFGAP1 for domains About GeneDecksing

1 InterPro domain/family:

IPR001164 ArfGAP

Graphical View of Domain Structure for InterPro Entry Q8N6T3

ProtoNet protein and cluster: Q8N6T3

1 Blocks protein family: IPB001164 HIV Rev interacting protein signature

UniProtKB/Swiss-Prot: ARFG1_HUMAN, Q8N6T3

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)

Similarity: Contains 1 Arf-GAP domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: ARFG1_HUMAN, Q8N6T3

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 vesicle's 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)

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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARFGAP1

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005096	GTPase activator activity	IDA	--
GO:0005515	protein binding	IPI	--
GO:0008060	ARF GTPase activator activity	IEA	--
GO:0008270	zinc ion binding	IEA	--

ARFGAP1 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for ARFGAP1:

Increased cell number in S

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/9 super-pathways (see all 9) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Coatomer:Arf1-GTP:GAP lattice formation on golgi membrane

Coatomer:Arf1-GTP:GAP lattice formation on golgi membrane	1.00	Golgi to ER Retrograde Transport	0.90
Hydrolysis of Arf1-GTP to Arf1-GDP	1.00	COPI Mediated Transport	0.90
Diffusion of inactive Arf1-GDP from membrane	1.00	Golgi vesicle lattice disassociation	0.89

Activation of Chaperone Genes by XBP1(S)

	Activation of Chaperone Genes by XBP1(S)	1.00			Unfolded Protein Response	0.71
	Activation of Chaperones by IRE1alpha	0.94

Expression of ARFGAP1 (GAP)

Expression of ARFGAP1 (GAP)

1.00

Membrane Trafficking

Membrane Trafficking

1.00

PAK Pathway

PAK Pathway

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for ARFGAP1

	Paxillin Interactions
	PAK Pathway

1 BioSystems Pathway for ARFGAP1

Arf1 pathway

5/12 Reactome Pathways for ARFGAP1 (see all 12)

	Hydrolysis of Arf1-GTP to Arf1-GDP
	Diffusion of inactive Arf1-GDP from membrane
	Membrane Trafficking
	COPI Mediated Transport
	Golgi to ER Retrograde Transport

1 Kegg Pathway (Kegg details for ARFGAP1):

Endocytosis

ARFGAP1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for ARFGAP1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/94 Interacting proteins for ARFGAP1 (Q8N6T3^{1, 2, 3} ENSP00000314615⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 94)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SMN1	Q16637²^,³	MINT-8270860 I2D: score=2
SMN2	Q16637²^,³	MINT-8270860 I2D: score=2
MAP1LC3B	Q9GZQ8²^,³	MINT-8259467 I2D: score=2
TK1	P04183²^,³	MINT-8272927 I2D: score=2
RGS2	P41220²^,³, ENSP00000235382⁴	MINT-63734 I2D: score=5 STRING: ENSP00000235382

About this table

Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006890	retrograde vesicle-mediated transport, Golgi to ER	TAS	--
GO:0006987	activation of signaling protein activity involved in unfolded protein response	TAS	--
GO:0015031	protein transport	IEA	--
GO:0016044	cellular membrane organization	TAS	--
GO:0030968	endoplasmic reticulum unfolded protein response	TAS	--

ARFGAP1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

ARFGAP1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for ARFGAP1

10/1076 HMDB Compounds for ARFGAP1 (see all 1076) About this table

Compound	Synonyms	CAS #	PubMed Ids
Guanosine triphosphate	5'-GTP (see all 10)	86-01-1	--
PC(14:0/14:0)	Phosphatidylcholine(14:0/14:0) (see all 8)	--	--
PC(14:0/14:1(9Z))	Phosphatidylcholine(14:0/14:1) (see all 14)	--	--
PC(14:0/15:0)	GPCho(14:0/15:0) (see all 8)	--	--
PC(14:0/16:0)	GPCho(30:0) (see all 8)	--	--
PC(14:0/16:1(9Z))	1-myristoyl-2-palmitoleoyl-sn-glycero-3-phosphocholine (see all 14)	--	--
PC(14:0/18:0)	1-myristoyl-2-stearoyl-sn-glycero-3-phosphocholine (see all 8)	--	--
PC(14:0/18:1(11Z))	Phosphatidylcholine(14:0/18:1w7) (see all 14)	--	--
PC(14:0/18:1(9Z))	1-myristoyl-2-oleoyl-sn-glycero-3-phosphocholine (see all 14)	--	--
PC(14:0/18:2(9Z,12Z))	Phosphatidylcholine(32:2) (see all 14)	--	--

2 Novoseek chemical compound relationships for ARFGAP1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
gtp	48	3	14654841 (1), 9388229 (1), 15843480 (1)
lipid	0	2	14654841 (1), 9388229 (1)

Search CenterWatch for drugs/clinical trials and news about ARFGAP1 / ARFG1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for ARFGAP1 gene (2 alternative transcripts):

NM_018209.2 NM_175609.1

Unigene Cluster for ARFGAP1:

ADP-ribosylation factor GTPase activating protein 1

Hs.25584 [show with all ESTs]

Unigene Representative Sequence: BC000786

18/23 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 23):

ENST00000370283(uc011aas.1 uc011aat.1 uc002yel.3 uc002yem.3)

ENST00000523114 ENST00000547204 ENST00000522959 ENST00000549047 ENST00000523460

ENST00000520485 ENST00000524192 ENST00000519531 ENST00000370275(uc002yen.3)

ENST00000518601 ENST00000353546 ENST00000522403 ENST00000550188 ENST00000518794(uc002yeo.1)

ENST00000468975 ENST00000520022 ENST00000518691

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Additional cDNA sequence:

AB015340.1 AK001629.1 AK027268.1 AK027441.1 AK095048.1 AK123367.1 AK123873.1 AK223427.1

AK296351.1 AK303454.1 AK308161.1 AL137744.1 AY927573.1 BC000786.1 BC006085.1 BC011876.1

BC028233.1 BC127893.1

24/30 DOTS entries (see all 30):

DT.97769325 DT.120839845 DT.100886577 DT.100886561 DT.101986416 DT.120839832 DT.454404 DT.95257616

DT.102828538 DT.100045244 DT.92442751 DT.100886557 DT.97855253 DT.120839817 DT.97855255 DT.100753741

DT.102828537 DT.100886576 DT.120839844 DT.120839854 DT.95257602 DT.95257607 DT.100886559 DT.100886560

24/445 AceView cDNA sequences (see all 445):

AI768168 CF242976 CA313167 BQ641879 CN480547 AA434405 BM544283 BQ946596

BM547740 BM704429 BM784278 BU844880 BQ923342 BQ575016 BM764740 AK027441

BU857199 BM424239 BX109835 CB054395 AL137744 BI834519 BM784787 AI819827

GeneLoc Exon Structure

5/17 Alternative Splicing Database (ASD) splice patterns (SP) for ARFGAP1 (see all 17) About this scheme

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:													-		-						-										-				-				-

ExUns:	15c	·	15d	^	16	^	17	^	18	^	19a	·	19b	^	20a	·	20b	^	21a	·	21b	^	22a	·	22b	^	23
SP1:	-		-						-		-		-
SP2:	-		-						-		-		-
SP3:	-		-						-
SP4:	-		-						-		-		-
SP5:

ECgene alternative splicing isoforms for ARFGAP1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

ARFGAP1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

ARFGAP1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

3 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Bone

Caudal Skull Membranous Bones

Bone

Endochondral Facial Bones

Bone

Rostral Skull Membranous Bones

Bone

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See ARFGAP1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ARFGAP1

SOURCE GeneReport for Unigene cluster: Hs.25584

SABiosciences Custom PCR Arrays for ARFGAP1

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of eukaryotes.

Orthologs for ARFGAP1 gene from 9/33 species (see all 33) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	ARFGAP1¹	ADP-ribosylation factor GTPase activating protein 1	74.77(n) 78.91(a)		419241 NM_001030857.1 NP_001026028.1
lizard (Anolis carolinensis)	Reptilia	ARFGAP1⁶	--	75(a)	1 ↔ 1	4(153458496-153475573)
African clawed frog (Xenopus laevis)	Amphibia	Xl.25766²	Xenopus laevis transcribed sequence with moderate similarity more	77.89(n)		CA791056.1
zebrafish (Danio rerio)	Actinopterygii	arfgap1¹	ADP-ribosylation factor GTPase activating protein 1	63.87(n) 63.87(a)		100149572 NM_001007303.1 NP_001007304.1
fruit fly (Drosophila melanogaster)	Insecta	CG6838³ Gap69C¹	ARF GTPase activator³ GTPase-activating protein 69C¹	38(a)³ 50.87(n)¹ 42.71(a)¹		80A1³ 39417¹ NM_079316.2¹ NP_524040.2¹
worm (Caenorhabditis elegans)	Secernentea	F07F6.4³ K02B12.7¹	Zinc finger protein³ Protein K02B12.7¹	37(a)³ 49.73(n)¹ 51.63(a)¹		II(5427422-5429540)³ 172643¹ NM_059909.2¹ NP_492310.1¹
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	GCS1(YDL226C)⁴ GCS1¹	ADP-ribosylation factor GTPase activating protein (ARF more⁴ Gcs1p¹	47.15(n)¹ 35.2(a)¹		4(52173-51115)⁴ 851372^{1, 4} NP_010055.1^{1, 4}
thale cress (Arabidopsis thaliana)	eudicotyledons	AGD7¹	ADP-ribosylation factor GTPase-activating protein AGD7	42.57(n) 36.57(a)		818331 NM_001036426.1 NP_001031503.1
rice (Oryza sativa)	Liliopsida	Os03g0278400¹	hypothetical protein	47.13(n) 36.34(a)		4332427 NM_001056261.1 NP_001049726.1

ENSEMBL Gene Tree for ARFGAP1 (if available)
TreeFam Gene Tree for ARFGAP1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 20 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs184167821^1,2		--	61902171(+)	`CTCAAC/GCTTCA`	2	--	us2k¹		0	--	--	--	--
rs151219939^1,2		--	61902213(+)	`CTAATA/CCAGCA`	2	--	us2k¹		0	--	--	--	--
rs140360338^1,2		--	61902333(+)	`GTGCAC/TGTCAC`	2	--	us2k¹		0	--	--	--	--
rs79934742^1,2	C,F,	--	61902363(+)	`TGCACA/GCCAGT`	2	--	us2k¹		3		NA CSA	124
rs76154141^1,2	F,	--	61902502(+)	`AGCAGC/GTGGAC`	2	--	us2k¹		1		WA	118
rs150377291^1,2		--	61902598(+)	`GGAGTA/GCAGTG`	2	--	us2k¹		0	--	--	--	--
rs188714163^1,2		--	61902637(+)	`CCTCCA/GGGGTT`	2	--	us2k¹		0	--	--	--	--
rs138267874^1,2		--	61902685(+)	`GATTAC/TAGGCG`	2	--	us2k¹		0	--	--	--	--
rs112265900^1,2		--	61902690(+)	`CAGGCG/ATGCAC`	2	--	us2k¹		1		CSA	2
rs112542810^1,2	C,	--	61902828(+)	`GCATGA/GGCCAC`	2	--	us2k¹		2		NA	122

HapMap Linkage Disequilibrium report for ARFGAP1 (61904137 - 61921142 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 4 variations for ARFGAP1
4 CNVs: 5148 30133 30134 31044

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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ARFGAP1 for disorders           About GeneDecksing

OMIM gene information: 608377    OMIM disorders: --

5 diseases for ARFGAP1:    About MalaCards

congenital cataracts cataract malaria neuronitis

carcinoma

Export disorders for ARFGAP1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for ARFGAP1 gene, integrated from 9 sources (see all 54):
(articles sorted by number of sources associating them with ARFGAP1)

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A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)^{1, 2} Beausoleil S.A.... Gygi S.P. (2006)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)^{1, 2} Deloukas P....Rogers J. (2001)
Expression, purification, and properties of ADP-ribosylation factor (ARF) GTPase activating protein-1. (PubMed id 11210549)^{1, 3} Huber I....Cassel D. (2001)
The KDEL receptor, ERD2, regulates intracellular traffic by recruiting a GTPase-activating protein for ARF1. (PubMed id 9405360)^{1, 9} Aoe T....Hsu V.W. (1997)
GTPase activity and neuronal toxicity of Parkinson's d isease-associated LRRK2 is regulated by ArfGAP1. (PubMed id 22363216)¹ Stafa K....Moore D.J. (2012)
ArfGAP1 is a GTPase activating protein for LRRK2: reci procal regulation of ArfGAP1 by LRRK2. (PubMed id 22423108)¹ Xiong Y....Dawson V.L. (2012)
A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)¹ Kristensen A.R....Foster L.J. (2012)
ARFGAP1 promotes AP-2-dependent endocytosis. (PubMed id 21499258)¹ Bai M....Hsu V.W. (2011)

(in PubMed, OMIM, and NCBI Bookshelf)
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 55738	HGNC: 15852	AceView: ARFGAP1	Ensembl:ENSG00000101199	euGenes: HUgn55738
ECgene: ARFGAP1	Kegg: 55738	H-InvDB: ARFGAP1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for ARFGAP1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for ARFGAP1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for ARFGAP1 gene:
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ADP-ribosylation factor GTPase activating protein 1

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ADP-ribosylation factor GTPase activating protein 1

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