• Gene id: 51291

Gene Summary

• Gene Symbol: GMIP   Gene   UCSC   Ensembl
• Aliases: ARHGAP46
• Gene name: GEM interacting protein
• Alternate names: GEM-interacting protein,
• Gene location: 19p13.11 (19643656: 19629475)     Exons: 22     NC_000019.10
• Gene summary(Entrez): This gene encodes a member of the ARHGAP family of Rho/Rac/Cdc42-like GTPase activating proteins. The encoded protein interacts with the Ras-related protein Gem through its N-terminal domain. Separately, it interacts with RhoA through a RhoGAP domain, and
• OMIM: 605265

Protein Summary

• Protein general information: Q9P107  
  • Name: GEM interacting protein (GMIP)
  • Length: 970  
  • Mass: 106683
• Sequence:

  MDAAEPGLPPGPEGRKRYSDIFRSLDNLEISLGNVTLEMLAGDPLLSEDPEPDKTPTATVTNEASCWSGPSPEGP
  VPLTGEELDLRLIRTKGGVDAALEYAKTWSRYAKELLAWTEKRASYELEFAKSTMKIAEAGKVSIQQQSHMPLQY
  IYTLFLEHDLSLGTLAMETVAQQKRDYYQPLAAKRTEIEKWRKEFKEQWMKEQKRMNEAVQALRRAQLQYVQRSE
  DLRARSQGSPEDSAPQASPGPSKQQERRRRSREEAQAKAQEAEALYQACVREANARQQDLEIAKQRIVSHVRKLV
  FQGDEVLRRVTLSLFGLRGAQAERGPRAFAALAECCAPFEPGQRYQEFVRALRPEAPPPPPPAFSFQEFLPSLNS
  SPLDIRKKLSGPLPPRLDENSAEPGPWEDPGTGWRWQGTPGPTPGSDVDSVGGGSESRSLDSPTSSPGAGTRQLV
  KASSTGTESSDDFEERDPDLGDGLENGLGSPFGKWTLSSAAQTHQLRRLRGPAKCRECEAFMVSGTECEECFLTC
  HKRCLETLLILCGHRRLPARTPLFGVDFLQLPRDFPEEVPFVVTKCTAEIEHRALDVQGIYRVSGSRVRVERLCQ
  AFENGRALVELSGNSPHDVSSVLKRFLQELTEPVIPFHLYDAFISLAKTLHADPGDDPGTPSPSPEVIRSLKTLL
  VQLPDSNYNTLRHLVAHLFRVAARFMENKMSANNLGIVFGPTLLRPPDGPRAASAIPVTCLLDSGHQAQLVEFLI
  VHYEQIFGMDELPQATEPPPQDSSPAPGPLTTSSQPPPPHLDPDSQPPVLASDPGPDPQHHSTLEQHPTATPTEI
  PTPQSDQREDVAEDTKDGGGEVSSQGPEDSLLGTQSRGHFSRQPVKYPRGGVRPVTHQLSSLALVASKLCEETPI
  TSVPRGSLRGRGPSPAAASPEGSPLRRTPLPKHFEITQETARLLSKLDSEAVPRATCCPDVQPEEAEDHL

• Structural information:
  • Protein Domains: (81..34-)
    (/note="F-BAR-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01077-)
    (554..75-)
    (/note="Rho-GAP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00172"-)
  • Interpro: IPR027267  IPR031160  IPR002219  IPR008936  IPR000198  
  • Prosite: PS51741 PS50238 PS00479 PS50081
  • PDB: 3QWE
  • PDBsum: 3QWE
  • STRING: ENSP00000203556
• Other Databases: GeneCards:  GMIP  Malacards:  GMIP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005096	GTPase activator activity	IDA	molecular function
GO:0035556	intracellular signal transduction	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0034260	negative regulation of GTPase activity	IBA	biological process
GO:0090630	activation of GTPase activity	IBA	biological process
GO:0005096	GTPase activator activity	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0007165	signal transduction	IEA	biological process
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0051056	regulation of small GTPase mediated signal transduction	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0034260	negative regulation of GTPase activity	IDA	biological process
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

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

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq