• Gene id: 84253

Gene Summary

• Gene Symbol: GARNL3   Gene   UCSC   Ensembl
• Aliases: bA356B19.1
• Gene name: GTPase activating Rap/RanGAP domain like 3
• Alternate names: GTPase-activating Rap/Ran-GAP domain-like protein 3, GTPase activating RANGAP domain-like 3,
• Gene location: 9q33.3 (87748086: 87759475)     Exons: 4     NC_000002.12

Protein Summary

• Protein general information: Q5VVW2  
  • Name: GTPase activating Rap/Ran GAP domain like protein 3
  • Length: 1013  
  • Mass: 112852
• Sequence:

  MVVDFCRRFVARSLCIILMKHFCSSSVSEDLGCRRGDFSRKHYGSVELLISSDADGAIQRAGRFRVENGSSDENA
  TALPGTWRRTDVHLENPEYHTRWYFKYFLGQVHQNYIGNDAEKSPFFLSVTLSDQNNQRVPQYRAILWRKTGTQK
  ICLPYSPTKTLSVKSILSAMNLDKFEKGPREIFHPEIQKDLLVLEEQEGSVNFKFGVLFAKDGQLTDDEMFSNEI
  GSEPFQKFLNLLGDTITLKGWTGYRGGLDTKNDTTGIHSVYTVYQGHEIMFHVSTMLPYSKENKQQVERKRHIGN
  DIVTIVFQEGEESSPAFKPSMIRSHFTHIFALVRYNQQNDNYRLKIFSEESVPLFGPPLPTPPVFTDHQEFRDFL
  LVKLINGEKATLETPTFAQKRRRTLDMLIRSLHQDLMPDLHKNMLNRRSFSDVLPESPKSARKKEEARQAEFVRI
  GQALKLKSIVRGDAPSSLAASGICKKEPWEPQCFCSNFPHEAVCADPWGQALLVSTDAGVLLVDDDLPSVPVFDR
  TLPVKQMHVLETLDLLVLRADKGKDARLFVFRLSALQKGLEGKQAGKSRSDCRENKLEKTKGCHLYAINTHHSRE
  LRIVVAIRNKLLLITRKHNKPSGVTSTSLLSPLSESPVEEFQYIREICLSDSPMVMTLVDGPAEESDNLICVAYR
  HQFDVVNESTGEAFRLHHVEANRVNFVAAIDVYEDGEAGLLLCYNYSCIYKKVCPFNGGSFLVQPSASDFQFCWN
  QAPYAIVCAFPYLLAFTTDSMEIRLVVNGNLVHTAVVPQLQLVASRSDIYFTATAAVNEVSSGGSSKGASARNSP
  QTPPGRDTPVFPSSLGEGEIQSKNLYKIPLRNLVGRSIERPLKSPLVSKVITPPTPISVGLAAIPVTHSLSLSRM
  EIKEIASRTRRELLGLSDEGGPKSEGAPKAKSKPRKRLEESQGGPKPGAVRSSSSDRIPSGSLESASTSEANPEG
  HSASSDQDPVADREGSPVSGSSPFQLTAFSDEDIIDLK

• Structural information:
  • Protein Domains: (191..40-)
    (/note="Rap-GAP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00165-)
    (489..80-)
    (/note="CNH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00795"-)
  • Interpro: IPR001180  IPR035974  IPR000331  
  • Prosite: PS50219 PS50085
  • STRING: ENSP00000362485
• Other Databases: GeneCards:  GARNL3  Malacards:  GARNL3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0051056	regulation of small GTPase mediated signal transduction	IEA	biological process
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process

Diseases

Associated diseases	References
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq