• Gene id: 3267

Gene Summary

• Gene Symbol: AGFG1   Gene   UCSC   Ensembl
• Aliases: HRB, RAB, RIP
• Gene name: ArfGAP with FG repeats 1
• Alternate names: arf-GAP domain and FG repeat-containing protein 1, HIV-1 Rev-binding protein, Rab, Rev/Rex activation domain-binding protein, arf-GAP domain and FG repeats-containing protein 1, hRIP, Rev interacting protein, nucleoporin-like protein RIP, rev-interacting ,
• Gene location: 2q36.3 (227472168: 227561221)     Exons: 16     NC_000002.12
• Gene summary(Entrez): The protein encoded by this gene is related to nucleoporins, a class of proteins that mediate nucleocytoplasmic transport. The encoded protein binds the activation domain of the human immunodeficiency virus Rev protein when Rev is assembled onto its RNA t
• OMIM: 600862

SNPs

rs7588620

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

NC_000002.12   g.227534764T>A
NC_000002.12   g.227534764T>C
NC_000002.11   g.228399480T>A
NC_000002.11   g.228399480T>C|SEQ=[T/A/C]|GENE=AGFG1

rs13426422

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

NC_000002.12   g.227485023T>G
NC_000002.11   g.228349739T>G|SEQ=[T/G]|GENE=AGFG1

rs13382948

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

NC_000002.12   g.227554241A>G
NC_000002.11   g.228418957A>G|SEQ=[A/G]|GENE=AGFG1

Protein Summary

• Protein general information: P52594  
  • Name: Arf GAP domain and FG repeat containing protein 1 (HIV 1 Rev binding protein) (Nucleoporin like protein RIP) (Rev interacting protein) (Rev/Rex activation domain binding protein)
  • Length: 562  
  • Mass: 58,260
• Sequence:

  MAASAKRKQEEKHLKMLRDMTGLPHNRKCFDCDQRGPTYVNMTVGSFVCTSCSGSLRGLNPPHRVKSISMTTFTQ
  QEIEFLQKHGNEVCKQIWLGLFDDRSSAIPDFRDPQKVKEFLQEKYEKKRWYVPPEQAKVVASVHASISGSSASS
  TSSTPEVKPLKSLLGDSAPTLHLNKGTPSQSPVVGRSQGQQQEKKQFDLLSDLGSDIFAAPAPQSTATANFANFA
  HFNSHAAQNSANADFANFDAFGQSSGSSNFGGFPTASHSPFQPQTTGGSAASVNANFAHFDNFPKSSSADFGTFN
  TSQSHQTASAVSKVSTNKAGLQTADKYAALANLDNIFSAGQGGDQGSGFGTTGKAPVGSVVSVPSQSSASSDKYA
  ALAELDSVFSSAATSSNAYTSTSNASSNVFGTVPVVASAQTQPASSSVPAPFGATPSTNPFVAAAGPSVASSTNP
  FQTNARGATAATFGTASMSMPTGFGTPAPYSLPTSFSGSFQQPAFPAQAAFPQQTAFSQQPNGAGFAAFGQTKPV
  VTPFGQVAAAGVSSNPFMTGAPTGQFPTGSSSTNPFL

• Structural information:
  • Protein Domains: Arf-GAP. (11-135)
  • Interpro: IPR037278  IPR001164  IPR038508  
  • Prosite: PS50115
  • PDB: 2D9L 2OLM 2VX8
  • PDBsum: 2D9L 2OLM 2VX8
  • DIP: 35546
  • STRING: ENSP00000387282
• Other Databases: GeneCards:  AGFG1  Malacards:  AGFG1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001675	acrosome assembly	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0003723	RNA binding	TAS	molecular function
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005643	nuclear pore	TAS	cellular component
GO:0006406	mRNA export from nucleus	TAS	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0007289	spermatid nucleus differentiation	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0043025	neuronal cell body	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0045109	intermediate filament organization	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0001675	acrosome assembly	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0003723	RNA binding	TAS	molecular function
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005643	nuclear pore	TAS	cellular component
GO:0006406	mRNA export from nucleus	TAS	biological process
GO:0006810	transport	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0007289	spermatid nucleus differentiation	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0043025	neuronal cell body	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0045109	intermediate filament organization	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0051028	mRNA transport	IEA	biological process
GO:0003723	RNA binding	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005643	nuclear pore	TAS	cellular component
GO:0006406	mRNA export from nucleus	TAS	biological process
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component

Diseases

Associated diseases	References
Arthritis	GAD: 19262425
Associated with spermatogenesis and epigenetic regulation	MIK: 21674046
Cryptorchidism	MIK: 28606200
Globozoospermia, male infertility	MIK: 16551740
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
16551740	Globozoospermia, male infertility	Hrb (19081 A DEL, 39 T/C: V139A, 751 T/C (rs7588620), 38 A/G: T472T (rs13426422), 538 A/G (rs13382948)), Csnk2a2 (509 A/G (rs16959755), 839 T/C, 919 A/G (rs2242444), 410 C/A (rs2242445)), GOPC (509 A/G, 531 T/G, 556 C/T, 445 G/A, 612 G/A)		10 (Family1: 1 primary infertility, I globozoospermia, 5 fertile, Family 2: 1 primary infertility, I globozoospermia, 1 fertile)	Male infertility	Hrb GOPC Csnk2a2
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Associated with spermatogenesis and epigenetic regulation			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R