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Protein

GATOR complex protein DEPDC5

Gene

DEPDC5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

As a component of the GATOR1 complex functions as an inhibitor of the amino acid-sensing branch of the TORC1 pathway. The GATOR1 complex strongly increases GTP hydrolysis by RRAGA and RRAGB within RRAGC-containing heterodimers, thereby deactivating RRAGs, releasing mTORC1 from lysosomal surface and inhibiting mTORC1 signaling. The GATOR1 complex is negatively regulated by GATOR2 the other GATOR subcomplex in this amino acid-sensing branch of the TORC1 pathway.3 Publications

GO - Molecular functioni

  • GTPase activator activity Source: UniProtKB-KW
  • protein-containing complex binding Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionGTPase activation

Enzyme and pathway databases

SIGNORiO75140

Names & Taxonomyi

Protein namesi
Recommended name:
GATOR complex protein DEPDC5Curated
Alternative name(s):
DEP domain-containing protein 5Imported
Gene namesi
Name:DEPDC5Imported
Synonyms:KIAA0645Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

EuPathDBiHostDB:ENSG00000100150.16
HGNCiHGNC:18423 DEPDC5
MIMi614191 gene
neXtProtiNX_O75140

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Lysosome, Membrane

Pathology & Biotechi

Involvement in diseasei

Epilepsy, familial focal, with variable foci 1 (FFEVF1)7 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions in different family members. Many patients have an aura and show automatisms during the seizures, whereas others may have nocturnal seizures. There is often secondary generalization. Some patients show abnormal interictal EEG, and some patients may have intellectual disability or autism spectrum disorders. Seizure onset usually occurs in the first or second decades, although later onset has been reported, and there is phenotypic variability within families. Penetrance of the disorder is incomplete.
See also OMIM:604364
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07236390V → I in FFEVF1; does not inhibit DEPDC5 signaling; does not change kinase activity of mTORC1; does not change association with the GATOR complex; inhibits slightly RRAGA/RRAGC and RRAGB/RRAGC heterodimer formation. 2 PublicationsCorresponds to variant dbSNP:rs768456731EnsemblClinVar.1
Natural variantiVAR_077128214H → D in FFEVF1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs886039276EnsemblClinVar.1
Natural variantiVAR_072364272V → L in FFEVF1; does not inhibit DEPDC5 signaling; does not change kinase activity of mTORC1; does not change association with the GATOR complex; does not change RRAGA/RRAGC and RRAGB/RRAGC heterodimer formation. 2 PublicationsCorresponds to variant dbSNP:rs187334123EnsemblClinVar.1
Natural variantiVAR_069263452A → V in FFEVF1; inhibits slightly DEPDC5 signaling; stimulates slightly kinase activity of mTORC1; does not change association with the GATOR complex; does not change RRAGA/RRAGC and RRAGB/RRAGC heterodimer formation. 2 PublicationsCorresponds to variant dbSNP:rs202226316EnsemblClinVar.1
Natural variantiVAR_069264485R → Q in FFEVF1; does not inhibit DEPDC5 signaling; stimulates slightly kinase activity of mTORC1; does not change association with the GATOR complex; does not change RRAGA/RRAGC and RRAGB/RRAGC heterodimer formation. 2 PublicationsCorresponds to variant dbSNP:rs886039278EnsemblClinVar.1
Natural variantiVAR_077129542Q → P in FFEVF1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs886039279EnsemblClinVar.1
Natural variantiVAR_072365864T → M in FFEVF1; inhibits slightly DEPDC5 signaling; does not change kinase activity of mTORC1; does not change association with the GATOR complex; does not change RRAGA/RRAGC and RRAGB/RRAGC heterodimer formation. 2 PublicationsCorresponds to variant dbSNP:rs564667614EnsemblClinVar.1
Natural variantiVAR_0771301065K → R in FFEVF1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs757609394Ensembl.1
Natural variantiVAR_0692651073S → R in FFEVF1; inhibits slightly DEPDC5 signaling; does not change kinase activity of mTORC1; does not change association with the GATOR complex; does not change RRAGA/RRAGC and RRAGB/RRAGC heterodimer formation. 2 PublicationsCorresponds to variant dbSNP:rs754608531EnsemblClinVar.1
Natural variantiVAR_0771311081T → P in FFEVF1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs142540948EnsemblClinVar.1
Natural variantiVAR_0692661104S → L in FFEVF1. 1 PublicationCorresponds to variant dbSNP:rs79027628EnsemblClinVar.1
Natural variantiVAR_0771321154S → F in FFEVF1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs578244490EnsemblClinVar.1
Natural variantiVAR_0723661162S → G in FFEVF1; does not inhibit DEPDC5 signaling; does not change kinase activity of mTORC1; does not change association with the GATOR complex; does not change RRAGA/RRAGC and RRAGB/RRAGC heterodimer formation. 1 PublicationCorresponds to variant dbSNP:rs886039280EnsemblClinVar.1
Natural variantiVAR_0771331268R → Q in FFEVF1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs886039281EnsemblClinVar.1
Inactivating mutations and truncating deletions in the genes encoding GATOR1 proteins, including DEPDC5, are detected in glioblastoma and ovarian tumors and are associated with loss of heterozygosity events. Inactivation of GATOR1 proteins promotes constitutive localization of mTORC1 to the lysosomal membrane and blocks mTORC1 inactivation following amino acid withdrawal (PubMed:23723238).1 Publication

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi447K → R: No effect on ubiquitination. Loss of interaction with KLHL22 and ubiquitination; when associated with R-710, R-1065, R-1088 and R-1574. 1 Publication1
Mutagenesisi710K → R: No effect on ubiquitination. Loss of interaction with KLHL22 and ubiquitination; when associated with R-447, R-1065, R-1088 and R-1574. 1 Publication1
Mutagenesisi1065K → R: No effect on ubiquitination. Loss of interaction with KLHL22 and ubiquitination; when associated with R-447, R-710, R-1088 and R-1574. 1 Publication1
Mutagenesisi1088K → R: No effect on ubiquitination. Loss of interaction with KLHL22 and ubiquitination; when associated with R-447, R-710, R-1065 and R-1574. 1 Publication1
Mutagenesisi1188S → A: No effect on interaction with KLHL22. 1 Publication1
Mutagenesisi1189T → A: No effect on interaction with KLHL22. 1 Publication1
Mutagenesisi1195S → A: No effect on interaction with KLHL22. 1 Publication1
Mutagenesisi1201S → A: No effect on interaction with KLHL22. 1 Publication1
Mutagenesisi1203Y → A: No effect on interaction with KLHL22. 1 Publication1
Mutagenesisi1207S → A: No effect on interaction with KLHL22. 1 Publication1
Mutagenesisi1223T → A: No effect on interaction with KLHL22. 1 Publication1
Mutagenesisi1241T → A: No effect on interaction with KLHL22. 1 Publication1
Mutagenesisi1244S → A: No effect on interaction with KLHL22. 1 Publication1
Mutagenesisi1250T → A: No effect on interaction with KLHL22. 1 Publication1
Mutagenesisi1253Y → A: No effect on interaction with KLHL22. 1 Publication1
Mutagenesisi1256Y → A: No effect on interaction with KLHL22. 1 Publication1
Mutagenesisi1574K → R: No effect on ubiquitination. Loss of ubiquitination; when associated with R-447, R-710, R-1065 and R-1088. 1 Publication1

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNETi9681
MalaCardsiDEPDC5
MIMi604364 phenotype
OpenTargetsiENSG00000100150
Orphaneti101046 Autosomal dominant epilepsy with auditory features
98784 Autosomal dominant nocturnal frontal lobe epilepsy
98820 Familial focal epilepsy with variable foci
PharmGKBiPA134864958

Polymorphism and mutation databases

BioMutaiDEPDC5

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000798651 – 1603GATOR complex protein DEPDC5Add BLAST1603

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei505PhosphoserineCombined sources1

Post-translational modificationi

Ubiquitinated. Amino acid-induced 'Lys-48'-linked polyubiquitination of DEPDC5 by the BCR(KLHL22) ubiquitin ligase complex leads to DEPDC5 proteasomal degradation and inhibition of the GATOR1 complex (PubMed:29769719). Ubiquitination may occur at multiple lysines (PubMed:29769719).1 Publication

Keywords - PTMi

Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiO75140
PaxDbiO75140
PeptideAtlasiO75140
PRIDEiO75140
ProteomicsDBi49795
49796 [O75140-2]
49798 [O75140-4]
49799 [O75140-5]
49800 [O75140-6]
49802 [O75140-8]

PTM databases

iPTMnetiO75140
PhosphoSitePlusiO75140

Expressioni

Tissue specificityi

Expressed in developing and adult brain.1 Publication

Gene expression databases

BgeeiENSG00000100150 Expressed in 185 organ(s), highest expression level in layer of synovial tissue
CleanExiHS_DEPDC5
ExpressionAtlasiO75140 baseline and differential
GenevisibleiO75140 HS

Organism-specific databases

HPAiHPA054969
HPA055619

Interactioni

Subunit structurei

Within the GATOR complex, component of the GATOR1 subcomplex, made of DEPDC5, NPRL2 and NPRL3. GATOR1 mediates the strong interaction of the GATOR complex with RRAGA/RRAGC and RRAGB/RRAGC heterodimers. Interacts (via DEP domain) with KLHL22; the interaction depends on amino acid availability (PubMed:29769719).3 Publications

Protein-protein interaction databases

BioGridi115034, 15 interactors
CORUMiO75140
DIPiDIP-62050N
IntActiO75140, 19 interactors
MINTiO75140
STRINGi9606.ENSP00000371546

Structurei

3D structure databases

ProteinModelPortaliO75140
SMRiO75140
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini1187 – 1262DEPPROSITE-ProRule annotationAdd BLAST76

Domaini

The DEP domain mediates the interaction with KLHL22.1 Publication

Sequence similaritiesi

Belongs to the IML1 family.Curated

Phylogenomic databases

eggNOGiKOG3572 Eukaryota
ENOG410XQVG LUCA
GeneTreeiENSGT00390000016559
HOGENOMiHOG000290718
HOVERGENiHBG051337
InParanoidiO75140
KOiK20404
OMAiIMFNKVV
OrthoDBiEOG091G0205

Family and domain databases

Gene3Di1.10.10.10, 1 hit
InterProiView protein in InterPro
IPR000591 DEP_dom
IPR027244 IML1
IPR036388 WH-like_DNA-bd_sf
IPR036390 WH_DNA-bd_sf
PANTHERiPTHR13179 PTHR13179, 1 hit
PfamiView protein in Pfam
PF00610 DEP, 1 hit
PF12257 IML1, 1 hit
SMARTiView protein in SMART
SM00049 DEP, 1 hit
SUPFAMiSSF46785 SSF46785, 1 hit
PROSITEiView protein in PROSITE
PS50186 DEP, 1 hit

Sequences (8+)i

Sequence statusi: Complete.

This entry describes 8 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 8 described isoforms and 26 potential isoforms that are computationally mapped.Show allAlign All

Isoform 10 (identifier: O75140-10) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MRTTKVYKLV IHKKGFGGSD DELVVNPKVF PHIKLGDIVE IAHPNDEYSP
60 70 80 90 100
LLLQVKSLKE DLQKETISVD QTVTQVFRLR PYQDVYVNVV DPKDVTLDLV
110 120 130 140 150
ELTFKDQYIG RGDMWRLKKS LVSTCAYITQ KVEFAGIRAQ AGELWVKNEK
160 170 180 190 200
VMCGYISEDT RVVFRSTSAM VYIFIQMSCE MWDFDIYGDL YFEKAVNGFL
210 220 230 240 250
ADLFTKWKEK NCSHEVTVVL FSRTFYDAKS VDEFPEINRA SIRQDHKGRF
260 270 280 290 300
YEDFYKVVVQ NERREEWTSL LVTIKKLFIQ YPVLVRLEQA EGFPQGDNST
310 320 330 340 350
SAQGNYLEAI NLSFNVFDKH YINRNFDRTG QMSVVITPGV GVFEVDRLLM
360 370 380 390 400
ILTKQRMIDN GIGVDLVCMG EQPLHAVPLF KLHNRSAPRD SRLGDDYNIP
410 420 430 440 450
HWINHSFYTS KSQLFCNSFT PRIKLAGKKP ASEKAKNGRD TSLGSPKESE
460 470 480 490 500
NALPIQVDYD AYDAQVFRLP GPSRAQCLTT CRSVRERESH SRKSASSCDV
510 520 530 540 550
SSSPSLPSRT LPTEEVRSQA SDDSSLGKSA NILMIPHPHL HQYEVSSSLG
560 570 580 590 600
YTSTRDVLEN MMEPPQRDSS APGRFHVGSA ESMLHVRPGG YTPQRALINP
610 620 630 640 650
FAPSRMPMKL TSNRRRWMHT FPVGPSGEAI QIHHQTRQNM AELQGSGQRD
660 670 680 690 700
PTHSSAELLE LAYHEAAGRH SNSRQPGDGM SFLNFSGTEE LSVGLLSNSG
710 720 730 740 750
AGMNPRTQNK DSLEDSVSTS PDPILTLSAP PVVPGFCCTV GVDWKSLTTP
760 770 780 790 800
ACLPLTTDYF PDRQGLQNDY TEGCYDLLPE ADIDRRDEDG VQMTAQQVFE
810 820 830 840 850
EFICQRLMQG YQIIVQPKTQ KPNPAVPPPL SSSPLYSRGL VSRNRPEEED
860 870 880 890 900
QYWLSMGRTF HKVTLKDKMI TVTRYLPKYP YESAQIHYTY SLCPSHSDSE
910 920 930 940 950
FVSCWVEFSH ERLEEYKWNY LDQYICSAGS EDFSLIESLK FWRTRFLLLP
960 970 980 990 1000
ACVTATKRIT EGEAHCDIYG DRPRADEDEW QLLDGFVRFV EGLNRIRRRH
1010 1020 1030 1040 1050
RSDRMMRKGT AMKGLQMTGP ISTHSLESTA PPVGKKGTSA LSALLEMEAS
1060 1070 1080 1090 1100
QKCLGEQQAA VHGGKSSAQS AESSSVAMTP TYMDSPRKDG AFFMEFVRSP
1110 1120 1130 1140 1150
RTASSAFYPQ VSVDQTATPM LDGTSLGICT GQSMDRGNSQ TFGNSQNIGE
1160 1170 1180 1190 1200
QGYSSTNSSD SSSQQLVASS LTSSSTLTEI LEAMKHPSTG VQLLSEQKGL
1210 1220 1230 1240 1250
SPYCFISAEV VHWLVNHVEG IQTQAMAIDI MQKMLEEQLI THASGEAWRT
1260 1270 1280 1290 1300
FIYGFYFYKI VTDKEPDRVA MQQPATTWHT AGVDDFASFQ RKWFEVAFVA
1310 1320 1330 1340 1350
EELVHSEIPA FLLPWLPSRP ASYASRHSSF SRSFGGRSQA AALLAATVPE
1360 1370 1380 1390 1400
QRTVTLDVDV NNRTDRLEWC SCYYHGNFSL NAAFEIKLHW MAVTAAVLFE
1410 1420 1430 1440 1450
MVQGWHRKAT SCGFLLVPVL EGPFALPSYL YGDPLRAQLF IPLNISCLLK
1460 1470 1480 1490 1500
EGSEHLFDSF EPETYWDRMH LFQEAIAHRF GFVQDKYSAS AFNFPAENKP
1510 1520 1530 1540 1550
QYIHVTGTVF LQLPYSKRKF SGQQRRRRNS TSSTNQNMFC EERVGYNWAY
1560 1570 1580 1590 1600
NTMLTKTWRS SATGDEKFAD RLLKDFTDFC INRDNRLVTF WTSCLEKMHA

SAP
Length:1,603
Mass (Da):181,264
Last modified:May 29, 2013 - v2
Checksum:i19664228B566A080
GO
Isoform 2 (identifier: O75140-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     556-559: DVLE → EHLG
     560-1603: Missing.

Note: No experimental confirmation available.
Show »
Length:559
Mass (Da):63,747
Checksum:iDE93AA865A4BDB86
GO
Isoform 4 (identifier: O75140-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1089-1110: Missing.

Note: No experimental confirmation available.
Show »
Length:1,581
Mass (Da):178,770
Checksum:i370A819D424914D4
GO
Isoform 5 (identifier: O75140-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1460-1603: FEPETYWDRM...CLEKMHASAP → LGLYKINILP...QGMKSLLIGC

Note: No experimental confirmation available.
Show »
Length:1,552
Mass (Da):173,443
Checksum:i2EBE2C7172E51665
GO
Isoform 6 (identifier: O75140-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     624-701: Missing.
     1230-1338: IMQKMLEEQL...SFSRSFGGRS → VMQWPCSSPP...LEDGARRQHF
     1339-1603: Missing.

Note: No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:1,229
Mass (Da):138,310
Checksum:i1B4A2F40504829B4
GO
Isoform 8 (identifier: O75140-8) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     624-701: Missing.
     1089-1110: Missing.

Note: No experimental confirmation available.
Show »
Length:1,503
Mass (Da):170,529
Checksum:i6E71C3A838C96D3F
GO
Isoform 9 (identifier: O75140-9) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     724-733: ILTLSAPPVV → M

Show »
Length:1,594
Mass (Da):180,404
Checksum:i2387234DC7184F09
GO
Isoform 1 (identifier: O75140-1) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     724-733: ILTLSAPPVV → M
     1089-1110: Missing.

Show »
Length:1,572
Mass (Da):177,910
Checksum:i9F4AF4EEB4846B1B
GO

Computationally mapped potential isoform sequencesi

There are 26 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0Y770H0Y770_HUMAN
GATOR complex protein DEPDC5
DEPDC5
1,575Annotation score:
A0A2R8Y6H3A0A2R8Y6H3_HUMAN
GATOR complex protein DEPDC5
DEPDC5
1,525Annotation score:
A0A2R8Y5K9A0A2R8Y5K9_HUMAN
GATOR complex protein DEPDC5
DEPDC5
1,484Annotation score:
A0A2R8Y7U0A0A2R8Y7U0_HUMAN
GATOR complex protein DEPDC5
DEPDC5
1,589Annotation score:
A0A2R8Y721A0A2R8Y721_HUMAN
GATOR complex protein DEPDC5
DEPDC5
1,496Annotation score:
A0A2R8Y7C9A0A2R8Y7C9_HUMAN
GATOR complex protein DEPDC5
DEPDC5
228Annotation score:
H7C1T0H7C1T0_HUMAN
GATOR complex protein DEPDC5
DEPDC5
659Annotation score:
C9JGS4C9JGS4_HUMAN
GATOR complex protein DEPDC5
DEPDC5
193Annotation score:
H7C3I3H7C3I3_HUMAN
GATOR complex protein DEPDC5
DEPDC5
135Annotation score:
F8WAX3F8WAX3_HUMAN
GATOR complex protein DEPDC5
DEPDC5
37Annotation score:
There are more potential isoformsShow all

Sequence cautioni

The sequence BAA31620 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence CAG27890 differs from that shown. Aberrant splicing.Curated
The sequence CAH18159 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti1365D → G in CAH18159 (PubMed:17974005).Curated1
Sequence conflicti1430L → P in CAH18159 (PubMed:17974005).Curated1
Sequence conflicti1561S → G in CAH18159 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07236390V → I in FFEVF1; does not inhibit DEPDC5 signaling; does not change kinase activity of mTORC1; does not change association with the GATOR complex; inhibits slightly RRAGA/RRAGC and RRAGB/RRAGC heterodimer formation. 2 PublicationsCorresponds to variant dbSNP:rs768456731EnsemblClinVar.1
Natural variantiVAR_077128214H → D in FFEVF1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs886039276EnsemblClinVar.1
Natural variantiVAR_072364272V → L in FFEVF1; does not inhibit DEPDC5 signaling; does not change kinase activity of mTORC1; does not change association with the GATOR complex; does not change RRAGA/RRAGC and RRAGB/RRAGC heterodimer formation. 2 PublicationsCorresponds to variant dbSNP:rs187334123EnsemblClinVar.1
Natural variantiVAR_069263452A → V in FFEVF1; inhibits slightly DEPDC5 signaling; stimulates slightly kinase activity of mTORC1; does not change association with the GATOR complex; does not change RRAGA/RRAGC and RRAGB/RRAGC heterodimer formation. 2 PublicationsCorresponds to variant dbSNP:rs202226316EnsemblClinVar.1
Natural variantiVAR_069264485R → Q in FFEVF1; does not inhibit DEPDC5 signaling; stimulates slightly kinase activity of mTORC1; does not change association with the GATOR complex; does not change RRAGA/RRAGC and RRAGB/RRAGC heterodimer formation. 2 PublicationsCorresponds to variant dbSNP:rs886039278EnsemblClinVar.1
Natural variantiVAR_024338491S → T. Corresponds to variant dbSNP:rs8138516EnsemblClinVar.1
Natural variantiVAR_077129542Q → P in FFEVF1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs886039279EnsemblClinVar.1
Natural variantiVAR_053953641A → V. Corresponds to variant dbSNP:rs16989528EnsemblClinVar.1
Natural variantiVAR_053954712S → F. Corresponds to variant dbSNP:rs16989535EnsemblClinVar.1
Natural variantiVAR_072365864T → M in FFEVF1; inhibits slightly DEPDC5 signaling; does not change kinase activity of mTORC1; does not change association with the GATOR complex; does not change RRAGA/RRAGC and RRAGB/RRAGC heterodimer formation. 2 PublicationsCorresponds to variant dbSNP:rs564667614EnsemblClinVar.1
Natural variantiVAR_0771301065K → R in FFEVF1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs757609394Ensembl.1
Natural variantiVAR_0692651073S → R in FFEVF1; inhibits slightly DEPDC5 signaling; does not change kinase activity of mTORC1; does not change association with the GATOR complex; does not change RRAGA/RRAGC and RRAGB/RRAGC heterodimer formation. 2 PublicationsCorresponds to variant dbSNP:rs754608531EnsemblClinVar.1
Natural variantiVAR_0771311081T → P in FFEVF1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs142540948EnsemblClinVar.1
Natural variantiVAR_0692661104S → L in FFEVF1. 1 PublicationCorresponds to variant dbSNP:rs79027628EnsemblClinVar.1
Natural variantiVAR_0771321154S → F in FFEVF1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs578244490EnsemblClinVar.1
Natural variantiVAR_0723661162S → G in FFEVF1; does not inhibit DEPDC5 signaling; does not change kinase activity of mTORC1; does not change association with the GATOR complex; does not change RRAGA/RRAGC and RRAGB/RRAGC heterodimer formation. 1 PublicationCorresponds to variant dbSNP:rs886039280EnsemblClinVar.1
Natural variantiVAR_0771331268R → Q in FFEVF1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs886039281EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_014933556 – 559DVLE → EHLG in isoform 2. 1 Publication4
Alternative sequenceiVSP_014934560 – 1603Missing in isoform 2. 1 PublicationAdd BLAST1044
Alternative sequenceiVSP_014936624 – 701Missing in isoform 6 and isoform 8. 2 PublicationsAdd BLAST78
Alternative sequenceiVSP_014937724 – 733ILTLSAPPVV → M in isoform 1 and isoform 9. 4 Publications10
Alternative sequenceiVSP_0149381089 – 1110Missing in isoform 1, isoform 4 and isoform 8. 4 PublicationsAdd BLAST22
Alternative sequenceiVSP_0149391230 – 1338IMQKM…FGGRS → VMQWPCSSPPPPGTQQEWTT SPASSASGLRWPLWQKSSCT LRFLPFSCPGCLTGQPPMQV GTAPLAEVLEDGARRQHF in isoform 6. 1 PublicationAdd BLAST109
Alternative sequenceiVSP_0149401339 – 1603Missing in isoform 6. 1 PublicationAdd BLAST265
Alternative sequenceiVSP_0149411460 – 1603FEPET…HASAP → LGLYKINILPLLLTSLLRTS LSISTLQEQCFCSCPTPSAS SQGSSGGGGTPPAPPTRTCS ARSGSATTGPTTPCSPKHGA PAPQGMKSLLIGC in isoform 5. CuratedAdd BLAST144

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ698950 mRNA Translation: CAG27889.1
AJ698951 mRNA Translation: CAG27890.1 Sequence problems.
AJ704764 mRNA Translation: CAG28924.1
AB014545 mRNA Translation: BAA31620.2 Different initiation.
AK294987 mRNA Translation: BAG58054.1
AC005004 Genomic DNA No translation available.
AL022331 Genomic DNA No translation available.
Z83856 Genomic DNA No translation available.
Z82190 Genomic DNA No translation available.
CH471095 Genomic DNA Translation: EAW59996.1
BC057797 mRNA Translation: AAH57797.1
BC136612 mRNA Translation: AAI36613.1
BC146766 mRNA Translation: AAI46767.1
BX640828 mRNA Translation: CAE45904.1
CR749304 mRNA Translation: CAH18159.1 Different initiation.
CCDSiCCDS43006.1 [O75140-1]
CCDS43007.1 [O75140-2]
CCDS46692.1 [O75140-9]
CCDS56229.1 [O75140-8]
CCDS74849.1 [O75140-10]
CCDS87017.1 [O75140-4]
PIRiT00376
RefSeqiNP_001007189.1, NM_001007188.2 [O75140-2]
NP_001129501.1, NM_001136029.2 [O75140-9]
NP_001229825.1, NM_001242896.1 [O75140-10]
NP_001229826.1, NM_001242897.1 [O75140-8]
NP_055477.1, NM_014662.4 [O75140-1]
XP_005261919.1, XM_005261862.1
XP_011528859.1, XM_011530557.2 [O75140-9]
XP_011528860.1, XM_011530558.2
XP_011528861.1, XM_011530559.2 [O75140-1]
XP_011528865.1, XM_011530563.2 [O75140-8]
XP_016884598.1, XM_017029109.1
XP_016884599.1, XM_017029110.1
XP_016884600.1, XM_017029111.1
UniGeneiHs.435022

Genome annotation databases

EnsembliENST00000382111; ENSP00000371545; ENSG00000100150 [O75140-5]
ENST00000382112; ENSP00000371546; ENSG00000100150 [O75140-10]
ENST00000400242; ENSP00000383101; ENSG00000100150 [O75140-2]
ENST00000400246; ENSP00000383105; ENSG00000100150 [O75140-10]
ENST00000400248; ENSP00000383107; ENSG00000100150 [O75140-1]
ENST00000400249; ENSP00000383108; ENSG00000100150 [O75140-4]
ENST00000535622; ENSP00000440210; ENSG00000100150 [O75140-8]
ENST00000642696; ENSP00000495917; ENSG00000100150 [O75140-1]
ENST00000644331; ENSP00000494406; ENSG00000100150 [O75140-4]
ENST00000645711; ENSP00000493489; ENSG00000100150 [O75140-9]
ENST00000646755; ENSP00000496532; ENSG00000100150 [O75140-2]
GeneIDi9681
KEGGihsa:9681
UCSCiuc003alr.3 human [O75140-10]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ698950 mRNA Translation: CAG27889.1
AJ698951 mRNA Translation: CAG27890.1 Sequence problems.
AJ704764 mRNA Translation: CAG28924.1
AB014545 mRNA Translation: BAA31620.2 Different initiation.
AK294987 mRNA Translation: BAG58054.1
AC005004 Genomic DNA No translation available.
AL022331 Genomic DNA No translation available.
Z83856 Genomic DNA No translation available.
Z82190 Genomic DNA No translation available.
CH471095 Genomic DNA Translation: EAW59996.1
BC057797 mRNA Translation: AAH57797.1
BC136612 mRNA Translation: AAI36613.1
BC146766 mRNA Translation: AAI46767.1
BX640828 mRNA Translation: CAE45904.1
CR749304 mRNA Translation: CAH18159.1 Different initiation.
CCDSiCCDS43006.1 [O75140-1]
CCDS43007.1 [O75140-2]
CCDS46692.1 [O75140-9]
CCDS56229.1 [O75140-8]
CCDS74849.1 [O75140-10]
CCDS87017.1 [O75140-4]
PIRiT00376
RefSeqiNP_001007189.1, NM_001007188.2 [O75140-2]
NP_001129501.1, NM_001136029.2 [O75140-9]
NP_001229825.1, NM_001242896.1 [O75140-10]
NP_001229826.1, NM_001242897.1 [O75140-8]
NP_055477.1, NM_014662.4 [O75140-1]
XP_005261919.1, XM_005261862.1
XP_011528859.1, XM_011530557.2 [O75140-9]
XP_011528860.1, XM_011530558.2
XP_011528861.1, XM_011530559.2 [O75140-1]
XP_011528865.1, XM_011530563.2 [O75140-8]
XP_016884598.1, XM_017029109.1
XP_016884599.1, XM_017029110.1
XP_016884600.1, XM_017029111.1
UniGeneiHs.435022

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
6CESelectron microscopy4.00D1-1603[»]
6CETelectron microscopy4.40D1-1603[»]
ProteinModelPortaliO75140
SMRiO75140
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115034, 15 interactors
CORUMiO75140
DIPiDIP-62050N
IntActiO75140, 19 interactors
MINTiO75140
STRINGi9606.ENSP00000371546

PTM databases

iPTMnetiO75140
PhosphoSitePlusiO75140

Polymorphism and mutation databases

BioMutaiDEPDC5

Proteomic databases

EPDiO75140
PaxDbiO75140
PeptideAtlasiO75140
PRIDEiO75140
ProteomicsDBi49795
49796 [O75140-2]
49798 [O75140-4]
49799 [O75140-5]
49800 [O75140-6]
49802 [O75140-8]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000382111; ENSP00000371545; ENSG00000100150 [O75140-5]
ENST00000382112; ENSP00000371546; ENSG00000100150 [O75140-10]
ENST00000400242; ENSP00000383101; ENSG00000100150 [O75140-2]
ENST00000400246; ENSP00000383105; ENSG00000100150 [O75140-10]
ENST00000400248; ENSP00000383107; ENSG00000100150 [O75140-1]
ENST00000400249; ENSP00000383108; ENSG00000100150 [O75140-4]
ENST00000535622; ENSP00000440210; ENSG00000100150 [O75140-8]
ENST00000642696; ENSP00000495917; ENSG00000100150 [O75140-1]
ENST00000644331; ENSP00000494406; ENSG00000100150 [O75140-4]
ENST00000645711; ENSP00000493489; ENSG00000100150 [O75140-9]
ENST00000646755; ENSP00000496532; ENSG00000100150 [O75140-2]
GeneIDi9681
KEGGihsa:9681
UCSCiuc003alr.3 human [O75140-10]

Organism-specific databases

CTDi9681
DisGeNETi9681
EuPathDBiHostDB:ENSG00000100150.16
GeneCardsiDEPDC5
HGNCiHGNC:18423 DEPDC5
HPAiHPA054969
HPA055619
MalaCardsiDEPDC5
MIMi604364 phenotype
614191 gene
neXtProtiNX_O75140
OpenTargetsiENSG00000100150
Orphaneti101046 Autosomal dominant epilepsy with auditory features
98784 Autosomal dominant nocturnal frontal lobe epilepsy
98820 Familial focal epilepsy with variable foci
PharmGKBiPA134864958
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3572 Eukaryota
ENOG410XQVG LUCA
GeneTreeiENSGT00390000016559
HOGENOMiHOG000290718
HOVERGENiHBG051337
InParanoidiO75140
KOiK20404
OMAiIMFNKVV
OrthoDBiEOG091G0205

Enzyme and pathway databases

SIGNORiO75140

Miscellaneous databases

ChiTaRSiDEPDC5 human
GeneWikiiDEPDC5
GenomeRNAii9681
PROiPR:O75140
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000100150 Expressed in 185 organ(s), highest expression level in layer of synovial tissue
CleanExiHS_DEPDC5
ExpressionAtlasiO75140 baseline and differential
GenevisibleiO75140 HS

Family and domain databases

Gene3Di1.10.10.10, 1 hit
InterProiView protein in InterPro
IPR000591 DEP_dom
IPR027244 IML1
IPR036388 WH-like_DNA-bd_sf
IPR036390 WH_DNA-bd_sf
PANTHERiPTHR13179 PTHR13179, 1 hit
PfamiView protein in Pfam
PF00610 DEP, 1 hit
PF12257 IML1, 1 hit
SMARTiView protein in SMART
SM00049 DEP, 1 hit
SUPFAMiSSF46785 SSF46785, 1 hit
PROSITEiView protein in PROSITE
PS50186 DEP, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiDEPD5_HUMAN
AccessioniPrimary (citable) accession number: O75140
Secondary accession number(s): A6H8V6
, A8MPX9, B4DH93, B9EGN9, Q5K3V5, Q5THY9, Q5THZ0, Q5THZ1, Q5THZ3, Q68DR1, Q6MZX3, Q6PEZ1, Q9UGV8, Q9UH13
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 3, 2002
Last sequence update: May 29, 2013
Last modified: November 7, 2018
This is version 158 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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