• Gene id: 381

Gene Summary

• Gene Symbol: ARF5   Gene   UCSC   Ensembl
• Gene name: ADP ribosylation factor 5
• Alternate names: ADP-ribosylation factor 5,
• Gene location: 7q32.1 (32411691: 32515386)     Exons: 12     NC_000021.9
• Gene summary(Entrez): This gene is a member of the human ADP-ribosylation factor (ARF) gene family. These genes encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as
• OMIM: 103188

SNPs

rs3819392

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000004.12   g.54660528G>A
NC_000004.11   g.55526694G>A
NG_007456.1   g.7534G>A|SEQ=[G/A]|GENE=KIT

rs2664155

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.50873774G>A
NC_000019.9   g.51377030G>A
NG_031984.1   g.5342G>A|SEQ=[G/A]|GENE=KLK2

rs3134885

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000004.12   g.54701722A>C
NC_000004.11   g.55567888A>C
NG_007456.1   g.48728A>C|SEQ=[A/C]|GENE=KIT

rs2237012

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000004.12   g.54733832A>G
NC_000004.11   g.55599998A>G
NG_007456.1   g.80838A>G|SEQ=[A/G]|GENE=KIT

rs140132974

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.135697628C>T
NC_000009.11   g.138589474C>T
NG_033070.1   g.444C>T
NG_033784.1   g.6901G>A|SEQ=[C/T]|GENE=SOHLH1

Protein Summary

• Protein general information: P84085  
  • Name: ADP ribosylation factor 5
  • Length: 180  
  • Mass: 20530
• Sequence:

  MGLTVSALFSRIFGKKQMRILMVGLDAAGKTTILYKLKLGEIVTTIPTIGFNVETVEYKNICFTVWDVGGQDKIR
  PLWRHYFQNTQGLIFVVDSNDRERVQESADELQKMLQEDELRDAVLLVFANKQDMPNAMPVSELTDKLGLQHLRS
  RTWYVQATCATQGTGLYDGLDWLSHELSKR

• Structural information:
  • Interpro: IPR027417  IPR005225  IPR006689  
  • Prosite: PS51417
  • PDB: 2B6H
  • PDBsum: 2B6H
  • DIP: 61289
  • STRING: ENSP00000000233
• Other Databases: GeneCards:  ARF5  Malacards:  ARF5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016192	vesicle-mediated transport	IBA	biological process
GO:0005525	GTP binding	IBA	molecular function
GO:0006886	intracellular protein transport	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016192	vesicle-mediated transport	IEA	biological process
GO:0005525	GTP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0015031	protein transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0003924	GTPase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006890	retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	IGI	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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