• Gene id: 9681

Gene Summary

• Gene Symbol: DEPDC5   Gene   UCSC   Ensembl
• Aliases: DEP.5, FFEVF, FFEVF1
• Gene name: DEP domain containing 5, GATOR1 subcomplex subunit
• Alternate names: GATOR complex protein DEPDC5, DEP domain containing 5, DEP domain-containing protein 5,
• Gene location: 22q12.2-q12.3 (89498112: 89360786)     Exons: 30     NC_000009.12
• Gene summary(Entrez): This gene encodes a member of the IML1 family of proteins involved in G-protein signaling pathways. The mechanistic target of rapamycin complex 1 (mTORC1) pathway regulates cell growth by sensing the availability of nutrients. The protein encoded by this
• OMIM: 614191

Protein Summary

• Protein general information: O75140  
  • Name: GATOR complex protein DEPDC5 (DEP domain containing protein 5)
  • Length: 1603  
  • Mass: 181264
  • Tissue specificity: Expressed in developing and adult brain. {ECO
• Sequence:

  MRTTKVYKLVIHKKGFGGSDDELVVNPKVFPHIKLGDIVEIAHPNDEYSPLLLQVKSLKEDLQKETISVDQTVTQ
  VFRLRPYQDVYVNVVDPKDVTLDLVELTFKDQYIGRGDMWRLKKSLVSTCAYITQKVEFAGIRAQAGELWVKNEK
  VMCGYISEDTRVVFRSTSAMVYIFIQMSCEMWDFDIYGDLYFEKAVNGFLADLFTKWKEKNCSHEVTVVLFSRTF
  YDAKSVDEFPEINRASIRQDHKGRFYEDFYKVVVQNERREEWTSLLVTIKKLFIQYPVLVRLEQAEGFPQGDNST
  SAQGNYLEAINLSFNVFDKHYINRNFDRTGQMSVVITPGVGVFEVDRLLMILTKQRMIDNGIGVDLVCMGEQPLH
  AVPLFKLHNRSAPRDSRLGDDYNIPHWINHSFYTSKSQLFCNSFTPRIKLAGKKPASEKAKNGRDTSLGSPKESE
  NALPIQVDYDAYDAQVFRLPGPSRAQCLTTCRSVRERESHSRKSASSCDVSSSPSLPSRTLPTEEVRSQASDDSS
  LGKSANILMIPHPHLHQYEVSSSLGYTSTRDVLENMMEPPQRDSSAPGRFHVGSAESMLHVRPGGYTPQRALINP
  FAPSRMPMKLTSNRRRWMHTFPVGPSGEAIQIHHQTRQNMAELQGSGQRDPTHSSAELLELAYHEAAGRHSNSRQ
  PGDGMSFLNFSGTEELSVGLLSNSGAGMNPRTQNKDSLEDSVSTSPDPILTLSAPPVVPGFCCTVGVDWKSLTTP
  ACLPLTTDYFPDRQGLQNDYTEGCYDLLPEADIDRRDEDGVQMTAQQVFEEFICQRLMQGYQIIVQPKTQKPNPA
  VPPPLSSSPLYSRGLVSRNRPEEEDQYWLSMGRTFHKVTLKDKMITVTRYLPKYPYESAQIHYTYSLCPSHSDSE
  FVSCWVEFSHERLEEYKWNYLDQYICSAGSEDFSLIESLKFWRTRFLLLPACVTATKRITEGEAHCDIYGDRPRA
  DEDEWQLLDGFVRFVEGLNRIRRRHRSDRMMRKGTAMKGLQMTGPISTHSLESTAPPVGKKGTSALSALLEMEAS
  QKCLGEQQAAVHGGKSSAQSAESSSVAMTPTYMDSPRKDGAFFMEFVRSPRTASSAFYPQVSVDQTATPMLDGTS
  LGICTGQSMDRGNSQTFGNSQNIGEQGYSSTNSSDSSSQQLVASSLTSSSTLTEILEAMKHPSTGVQLLSEQKGL
  SPYCFISAEVVHWLVNHVEGIQTQAMAIDIMQKMLEEQLITHASGEAWRTFIYGFYFYKIVTDKEPDRVAMQQPA
  TTWHTAGVDDFASFQRKWFEVAFVAEELVHSEIPAFLLPWLPSRPASYASRHSSFSRSFGGRSQAAALLAATVPE
  QRTVTLDVDVNNRTDRLEWCSCYYHGNFSLNAAFEIKLHWMAVTAAVLFEMVQGWHRKATSCGFLLVPVLEGPFA
  LPSYLYGDPLRAQLFIPLNISCLLKEGSEHLFDSFEPETYWDRMHLFQEAIAHRFGFVQDKYSASAFNFPAENKP
  QYIHVTGTVFLQLPYSKRKFSGQQRRRRNSTSSTNQNMFCEERVGYNWAYNTMLTKTWRSSATGDEKFADRLLKD
  FTDFCINRDNRLVTFWTSCLEKMHASAP

• Structural information:
  • Protein Domains: (1187..126-)
    (/note="DEP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00066"-)
  • Interpro: IPR000591  IPR027244  IPR036388  IPR036390  
  • Prosite: PS50186
  • PDB: 6CES 6CET
  • PDBsum: 6CES 6CET
  • DIP: 62050
  • STRING: ENSP00000383105
• Other Databases: GeneCards:  DEPDC5  Malacards:  DEPDC5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1990130	GATOR1 complex	IBA	cellular component
GO:0034198	cellular response to amino acid starvation	IBA	biological process
GO:0010506	regulation of autophagy	IBA	biological process
GO:0005765	lysosomal membrane	IBA	cellular component
GO:0032007	negative regulation of TOR signaling	IBA	biological process
GO:0005096	GTPase activator activity	IBA	contributes to
GO:0031463	Cul3-RING ubiquitin ligase complex	IDA	colocalizes with
GO:0005765	lysosomal membrane	IDA	cellular component
GO:0048471	perinuclear region of cytoplasm	ISS	cellular component
GO:0005829	cytosol	ISS	cellular component
GO:1904262	negative regulation of TORC1 signaling	IMP	biological process
GO:1904262	negative regulation of TORC1 signaling	IMP	biological process
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0005764	lysosome	IEA	cellular component
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005096	GTPase activator activity	IDA	contributes to
GO:1990130	GATOR1 complex	IDA	cellular component
GO:0032007	negative regulation of TOR signaling	IMP	biological process
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IEA	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:0005764	lysosome	IDA	cellular component
GO:0044877	protein-containing complex binding	IDA	molecular function
GO:0005765	lysosomal membrane	HDA	cellular component
GO:0034198	cellular response to amino acid starvation	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04150	mTOR signaling pathway

Diseases

Associated diseases	References
Familial focal epilepsy with variable foci	KEGG:H02214
Familial focal epilepsy with variable foci	KEGG:H02214
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)