• Gene id: 26286

Gene Summary

• Gene Symbol: ARFGAP3   Gene   UCSC   Ensembl
• Aliases: ARFGAP1
• Gene name: ADP ribosylation factor GTPase activating protein 3
• Alternate names: ADP-ribosylation factor GTPase-activating protein 3, ADP-ribosylation factor GTPase activating protein 1, ARF GAP 3,
• Gene location: 22q13.2 (42857293: 42796501)     Exons: 16     NC_000022.11
• Gene summary(Entrez): The protein encoded by this gene is a GTPase-activating protein (GAP) that associates with the Golgi apparatus and regulates the early secretory pathway of proteins. The encoded protein promotes hydrolysis of ADP-ribosylation factor 1 (ARF1)-bound GTP, wh
• OMIM: 612439

Protein Summary

• Protein general information: Q9NP61  
  • Name: ADP ribosylation factor GTPase activating protein 3 (ARF GAP 3)
  • Length: 516  
  • Mass: 56928
  • Tissue specificity: Widely expressed. Highest expression in endocrine glands (pancreas, pituitary gland, salivary gland, and prostate) and testis with a much higher expression in the testis than in the ovary. {ECO
• Sequence:

  MGDPSKQDILTIFKRLRSVPTNKVCFDCGAKNPSWASITYGVFLCIDCSGSHRSLGVHLSFIRSTELDSNWSWFQ
  LRCMQVGGNASASSFFHQHGCSTNDTNAKYNSRAAQLYREKIKSLASQATRKHGTDLWLDSCVVPPLSPPPKEED
  FFASHVSPEVSDTAWASAIAEPSSLTSRPVETTLENNEGGQEQGPSVEGLNVPTKATLEVSSIIKKKPNQAKKGL
  GAKKGSLGAQKLANTCFNEIEKQAQAADKMKEQEDLAKVVSKEESIVSSLRLAYKDLEIQMKKDEKMNISGKKNV
  DSDRLGMGFGNCRSVISHSVTSDMQTIEQESPIMAKPRKKYNDDSDDSYFTSSSSYFDEPVELRSSSFSSWDDSS
  DSYWKKETSKDTETVLKTTGYSDRPTARRKPDYEPVENTDEAQKKFGNVKAISSDMYFGRQSQADYETRARLERL
  SASSSISSADLFEEPRKQPAGNYSLSSVLPNAPDMAQFKQGVRSVAGKLSVFANGVVTSIQDRYGS

• Structural information:
  • Protein Domains: (10..12-)
    (/note="Arf-GAP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00288"-)
  • Interpro: IPR037278  IPR001164  IPR038508  
  • Prosite: PS50115
  • PDB: 2CRW
  • PDBsum: 2CRW
  • STRING: ENSP00000263245
• Other Databases: GeneCards:  ARFGAP3  Malacards:  ARFGAP3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0048205	COPI coating of Golgi vesicle	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:0005737	cytoplasm	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
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: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:0000139	Golgi membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005829	cytosol	IDA	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:0005829	cytosol	IDA	cellular component
GO:0005096	GTPase activator activity	IDA	molecular function
GO:0009306	protein secretion	IEP	biological process
GO:0016020	membrane	HDA	cellular component
GO:0006886	intracellular protein transport	NAS	biological process
GO:0016192	vesicle-mediated transport	NAS	biological process

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			19 (6 controls, 13 cases)	Male infertility	GSE6872 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