• Gene id: 55738

Gene Summary

• Gene Symbol: ARFGAP1   Gene   UCSC   Ensembl
• Aliases: ARF1GAP, HRIHFB2281
• Gene name: ADP ribosylation factor GTPase activating protein 1
• Alternate names: ADP-ribosylation factor GTPase-activating protein 1, ARF1-directed GTPase-activating protein,
• Gene location: 20q13.33 (63272784: 63289789)     Exons: 18     NC_000020.11
• Gene summary(Entrez): 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 f
• OMIM: 608377

Protein Summary

• Protein general information: Q8N6T3  
  • Name: ADP ribosylation factor GTPase activating protein 1 (ARF GAP 1) (ADP ribosylation factor 1 GTPase activating protein) (ARF1 GAP) (ARF1 directed GTPase activating protein)
  • Length: 406  
  • Mass: 44668
• Sequence:

  MASPRTRKVLKEVRVQDENNVCFECGAFNPQWVSVTYGIWICLECSGRHRGLGVHLSFVRSVTMDKWKDIELEKM
  KAGGNAKFREFLESQEDYDPCWSLQEKYNSRAAALFRDKVVALAEGREWSLESSPAQNWTPPQPRTLPSMVHRVS
  GQPQSVTASSDKAFEDWLNDDLGSYQGAQGNRYVGFGNTPPPQKKEDDFLNNAMSSLYSGWSSFTTGASRFASAA
  KEGATKFGSQASQKASELGHSLNENVLKPAQEKVKEGKIFDDVSSGVSQLASKVQGVGSKGWRDVTTFFSGKAEG
  PLDSPSEGHSYQNSGLDHFQNSNIDQSFWETFGSAEPTKTRKSPSSDSWTCADTSTERRSSDSWEVWGSASTNRN
  SNSDGGEGGEGTKKAVPPAVPTDDGWDNQNW

• Structural information:
  • Protein Domains: (7..12-)
    (/note="Arf-GAP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00288"-)
  • Interpro: IPR037278  IPR001164  IPR038508  
  • Prosite: PS50115
  • PDB: 3DWD 3O47
  • PDBsum: 3DWD 3O47
  • STRING: ENSP00000314615
• Other Databases: GeneCards:  ARFGAP1  Malacards:  ARFGAP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0032012	regulation of ARF protein signal transduction	IBA	biological process
GO:0000139	Golgi membrane	IBA	cellular component
GO:0030100	regulation of endocytosis	IBA	biological process
GO:0005096	GTPase activator activity	IBA	molecular function
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0016192	vesicle-mediated transport	IEA	biological process
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0015031	protein transport	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005096	GTPase activator activity	IDA	molecular function
GO:0006888	endoplasmic reticulum to Golgi vesicle-mediated transport	TAS	biological process
GO:0006890	retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	TAS	biological process
GO:0036498	IRE1-mediated unfolded protein response	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0014069	postsynaptic density	IEA	cellular component
GO:0030100	regulation of endocytosis	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0045202	synapse	IDA	cellular component
GO:0045202	synapse	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq