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Protein

DEP domain-containing protein 5

Gene

DEPDC5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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.2 Publications

GO - Molecular functioni

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

GO - Biological processi

  • cellular response to amino acid starvation Source: UniProtKB
  • intracellular signal transduction Source: InterPro
  • negative regulation of TORC1 signaling Source: UniProtKB
  • negative regulation of TOR signaling Source: SGD
Complete GO annotation...

Keywords - Molecular functioni

GTPase activation

Names & Taxonomyi

Protein namesi
Recommended name:
DEP domain-containing protein 5
Gene namesi
Name:DEPDC5
Synonyms:KIAA0645
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

HGNCiHGNC:18423. DEPDC5.

Subcellular locationi

GO - Cellular componenti

  • cytosol Source: UniProtKB
  • Iml1 complex Source: SGD
  • lysosomal membrane Source: UniProtKB
  • lysosome Source: UniProtKB
  • perinuclear region of cytoplasm Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Epilepsy, familial focal, with variable foci (FFEVF)5 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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti90 – 901V → I in FFEVF; 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 Publications
Corresponds to variant rs768456731 [ dbSNP | Ensembl ].
VAR_072363
Natural varianti272 – 2721V → L in FFEVF; 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 Publications
Corresponds to variant rs187334123 [ dbSNP | Ensembl ].
VAR_072364
Natural varianti452 – 4521A → V in FFEVF; 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 Publications
Corresponds to variant rs202226316 [ dbSNP | Ensembl ].
VAR_069263
Natural varianti485 – 4851R → Q in FFEVF; 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 Publications
VAR_069264
Natural varianti864 – 8641T → M in FFEVF; 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 Publications
Corresponds to variant rs564667614 [ dbSNP | Ensembl ].
VAR_072365
Natural varianti1073 – 10731S → R in FFEVF; 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 Publications
Corresponds to variant rs754608531 [ dbSNP | Ensembl ].
VAR_069265
Natural varianti1104 – 11041S → L in FFEVF. 1 Publication
Corresponds to variant rs79027628 [ dbSNP | Ensembl ].
VAR_069266
Natural varianti1162 – 11621S → G in FFEVF; 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 Publication
VAR_072366

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).

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

MalaCardsiDEPDC5.
MIMi604364. phenotype.
Orphaneti101046. Autosomal dominant epilepsy with auditory features.
98784. Autosomal dominant nocturnal frontal lobe epilepsy.
98820. Familial focal epilepsy with variable foci.
1945. Rolandic epilepsy.
PharmGKBiPA134864958.

Polymorphism and mutation databases

BioMutaiDEPDC5.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 16031603DEP domain-containing protein 5PRO_0000079865Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei505 – 5051PhosphoserineCombined sources

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiO75140.
PaxDbiO75140.
PeptideAtlasiO75140.
PRIDEiO75140.

PTM databases

iPTMnetiO75140.
PhosphoSiteiO75140.

Expressioni

Tissue specificityi

Expressed in developing and adult brain.1 Publication

Gene expression databases

BgeeiENSG00000100150.
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.2 Publications

GO - Molecular functioni

  • protein complex binding Source: UniProtKB

Protein-protein interaction databases

BioGridi115034. 13 interactions.
IntActiO75140. 2 interactions.
STRINGi9606.ENSP00000371546.

Structurei

3D structure databases

ProteinModelPortaliO75140.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini1187 – 126276DEPPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Belongs to the IML1 family.Curated
Contains 1 DEP domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG3572. Eukaryota.
ENOG410XQVG. LUCA.
GeneTreeiENSGT00390000016559.
HOGENOMiHOG000290718.
HOVERGENiHBG051337.
InParanoidiO75140.
OMAiHVTIKLT.
OrthoDBiEOG091G0205.

Family and domain databases

Gene3Di1.10.10.10. 1 hit.
InterProiIPR000591. DEP_dom.
IPR027244. IML1.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PANTHERiPTHR13179. PTHR13179. 1 hit.
PfamiPF00610. DEP. 1 hit.
PF12257. DUF3608. 1 hit.
[Graphical view]
SMARTiSM00049. DEP. 1 hit.
[Graphical view]
SUPFAMiSSF46785. SSF46785. 1 hit.
PROSITEiPS50186. DEP. 1 hit.
[Graphical view]

Sequences (10)i

Sequence statusi: Complete.

This entry describes 10 isoformsi produced by alternative splicing. AlignAdd to basket

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 3 (identifier: O75140-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     624-701: GPSGEAIQIH...SVGLLSNSGA → ETSCFYLSI
     724-733: ILTLSAPPVV → M
     1089-1110: Missing.

Note: No experimental confirmation available.
Show »
Length:1,503
Mass (Da):170,713
Checksum:i992424F08A58C93B
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.
Show »
Length:1,229
Mass (Da):138,310
Checksum:i1B4A2F40504829B4
GO
Isoform 7 (identifier: O75140-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-605: Missing.
     724-733: ILTLSAPPVV → M

Note: No experimental confirmation available.
Show »
Length:989
Mass (Da):111,624
Checksum:i8F9A6EC00874FECD
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

Sequence cautioni

The sequence BAA31620 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence CAH18159 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAI17976 differs from that shown. Reason: Erroneous initiation. Curated
The sequence CAI18778 differs from that shown. Reason: Erroneous initiation. Curated
The sequence CAI19699 differs from that shown. Reason: Erroneous initiation. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti1365 – 13651D → G in CAH18159 (PubMed:17974005).Curated
Sequence conflicti1430 – 14301L → P in CAH18159 (PubMed:17974005).Curated
Sequence conflicti1561 – 15611S → G in CAH18159 (PubMed:17974005).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti90 – 901V → I in FFEVF; 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 Publications
Corresponds to variant rs768456731 [ dbSNP | Ensembl ].
VAR_072363
Natural varianti272 – 2721V → L in FFEVF; 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 Publications
Corresponds to variant rs187334123 [ dbSNP | Ensembl ].
VAR_072364
Natural varianti452 – 4521A → V in FFEVF; 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 Publications
Corresponds to variant rs202226316 [ dbSNP | Ensembl ].
VAR_069263
Natural varianti485 – 4851R → Q in FFEVF; 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 Publications
VAR_069264
Natural varianti491 – 4911S → T.
Corresponds to variant rs8138516 [ dbSNP | Ensembl ].
VAR_024338
Natural varianti641 – 6411A → V.
Corresponds to variant rs16989528 [ dbSNP | Ensembl ].
VAR_053953
Natural varianti712 – 7121S → F.
Corresponds to variant rs16989535 [ dbSNP | Ensembl ].
VAR_053954
Natural varianti864 – 8641T → M in FFEVF; 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 Publications
Corresponds to variant rs564667614 [ dbSNP | Ensembl ].
VAR_072365
Natural varianti1073 – 10731S → R in FFEVF; 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 Publications
Corresponds to variant rs754608531 [ dbSNP | Ensembl ].
VAR_069265
Natural varianti1104 – 11041S → L in FFEVF. 1 Publication
Corresponds to variant rs79027628 [ dbSNP | Ensembl ].
VAR_069266
Natural varianti1162 – 11621S → G in FFEVF; 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 Publication
VAR_072366

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 605605Missing in isoform 7. 1 PublicationVSP_014932Add
BLAST
Alternative sequencei556 – 5594DVLE → EHLG in isoform 2. 1 PublicationVSP_014933
Alternative sequencei560 – 16031044Missing in isoform 2. 1 PublicationVSP_014934Add
BLAST
Alternative sequencei624 – 70178GPSGE…SNSGA → ETSCFYLSI in isoform 3. 1 PublicationVSP_014935Add
BLAST
Alternative sequencei624 – 70178Missing in isoform 6 and isoform 8. 2 PublicationsVSP_014936Add
BLAST
Alternative sequencei724 – 73310ILTLSAPPVV → M in isoform 1, isoform 3, isoform 7 and isoform 9. 4 PublicationsVSP_014937
Alternative sequencei1089 – 111022Missing in isoform 1, isoform 3, isoform 4 and isoform 8. 4 PublicationsVSP_014938Add
BLAST
Alternative sequencei1230 – 1338109IMQKM…FGGRS → VMQWPCSSPPPPGTQQEWTT SPASSASGLRWPLWQKSSCT LRFLPFSCPGCLTGQPPMQV GTAPLAEVLEDGARRQHF in isoform 6. 1 PublicationVSP_014939Add
BLAST
Alternative sequencei1339 – 1603265Missing in isoform 6. 1 PublicationVSP_014940Add
BLAST
Alternative sequencei1460 – 1603144FEPET…HASAP → LGLYKINILPLLLTSLLRTS LSISTLQEQCFCSCPTPSAS SQGSSGGGGTPPAPPTRTCS ARSGSATTGPTTPCSPKHGA PAPQGMKSLLIGC in isoform 5. CuratedVSP_014941Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ698950 mRNA. Translation: CAG27889.1.
AJ698951 mRNA. Translation: CAG27890.1.
AJ704764 mRNA. Translation: CAG28924.1.
AB014545 mRNA. Translation: BAA31620.2. Different initiation.
AK294987 mRNA. Translation: BAG58054.1.
AC005004 Genomic DNA. Translation: AAD08635.1.
AL022331, Z82190, Z83856 Genomic DNA. Translation: CAI17972.1.
AL022331, AC005004 Genomic DNA. Translation: CAI17973.1.
AL022331
, AC005004, Z82190, Z83856 Genomic DNA. Translation: CAI17974.1.
AL022331
, AC005004, Z82190, Z83856 Genomic DNA. Translation: CAI17975.1.
AL022331
, AC005004, Z82190, Z83856 Genomic DNA. Translation: CAI17976.1. Different initiation.
Z83856, AL022331, Z82190 Genomic DNA. Translation: CAI18776.1.
Z83856
, AC005004, AL022331, Z82190 Genomic DNA. Translation: CAI18777.1.
Z83856
, AC005004, AL022331, Z82190 Genomic DNA. Translation: CAI18778.1. Different initiation.
Z83856
, AC005004, AL022331, Z82190 Genomic DNA. Translation: CAI18779.1.
Z82190, AL022331, Z83856 Genomic DNA. Translation: CAI19696.1.
Z82190
, AC005004, AL022331, Z83856 Genomic DNA. Translation: CAI19697.1.
Z82190
, AC005004, AL022331, Z83856 Genomic DNA. Translation: CAI19698.1.
Z82190 Genomic DNA. Translation: CAI19699.1. Different initiation.
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]
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. [O75140-10]
XP_011528859.1. XM_011530557.2. [O75140-9]
XP_011528860.1. XM_011530558.2. [O75140-4]
XP_011528861.1. XM_011530559.2. [O75140-1]
XP_011528865.1. XM_011530563.2. [O75140-8]
UniGeneiHs.435022.

Genome annotation databases

EnsembliENST00000382111; ENSP00000371545; ENSG00000100150. [O75140-5]
ENST00000382112; ENSP00000371546; ENSG00000100150. [O75140-9]
ENST00000400242; ENSP00000383101; ENSG00000100150. [O75140-2]
ENST00000400246; ENSP00000383105; ENSG00000100150. [O75140-10]
ENST00000400248; ENSP00000383107; ENSG00000100150. [O75140-1]
ENST00000400249; ENSP00000383108; ENSG00000100150. [O75140-1]
ENST00000535622; ENSP00000440210; ENSG00000100150. [O75140-8]
GeneIDi9681.
KEGGihsa:9681.
UCSCiuc003alr.3. human. [O75140-10]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ698950 mRNA. Translation: CAG27889.1.
AJ698951 mRNA. Translation: CAG27890.1.
AJ704764 mRNA. Translation: CAG28924.1.
AB014545 mRNA. Translation: BAA31620.2. Different initiation.
AK294987 mRNA. Translation: BAG58054.1.
AC005004 Genomic DNA. Translation: AAD08635.1.
AL022331, Z82190, Z83856 Genomic DNA. Translation: CAI17972.1.
AL022331, AC005004 Genomic DNA. Translation: CAI17973.1.
AL022331
, AC005004, Z82190, Z83856 Genomic DNA. Translation: CAI17974.1.
AL022331
, AC005004, Z82190, Z83856 Genomic DNA. Translation: CAI17975.1.
AL022331
, AC005004, Z82190, Z83856 Genomic DNA. Translation: CAI17976.1. Different initiation.
Z83856, AL022331, Z82190 Genomic DNA. Translation: CAI18776.1.
Z83856
, AC005004, AL022331, Z82190 Genomic DNA. Translation: CAI18777.1.
Z83856
, AC005004, AL022331, Z82190 Genomic DNA. Translation: CAI18778.1. Different initiation.
Z83856
, AC005004, AL022331, Z82190 Genomic DNA. Translation: CAI18779.1.
Z82190, AL022331, Z83856 Genomic DNA. Translation: CAI19696.1.
Z82190
, AC005004, AL022331, Z83856 Genomic DNA. Translation: CAI19697.1.
Z82190
, AC005004, AL022331, Z83856 Genomic DNA. Translation: CAI19698.1.
Z82190 Genomic DNA. Translation: CAI19699.1. Different initiation.
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]
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. [O75140-10]
XP_011528859.1. XM_011530557.2. [O75140-9]
XP_011528860.1. XM_011530558.2. [O75140-4]
XP_011528861.1. XM_011530559.2. [O75140-1]
XP_011528865.1. XM_011530563.2. [O75140-8]
UniGeneiHs.435022.

3D structure databases

ProteinModelPortaliO75140.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115034. 13 interactions.
IntActiO75140. 2 interactions.
STRINGi9606.ENSP00000371546.

PTM databases

iPTMnetiO75140.
PhosphoSiteiO75140.

Polymorphism and mutation databases

BioMutaiDEPDC5.

Proteomic databases

MaxQBiO75140.
PaxDbiO75140.
PeptideAtlasiO75140.
PRIDEiO75140.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000382111; ENSP00000371545; ENSG00000100150. [O75140-5]
ENST00000382112; ENSP00000371546; ENSG00000100150. [O75140-9]
ENST00000400242; ENSP00000383101; ENSG00000100150. [O75140-2]
ENST00000400246; ENSP00000383105; ENSG00000100150. [O75140-10]
ENST00000400248; ENSP00000383107; ENSG00000100150. [O75140-1]
ENST00000400249; ENSP00000383108; ENSG00000100150. [O75140-1]
ENST00000535622; ENSP00000440210; ENSG00000100150. [O75140-8]
GeneIDi9681.
KEGGihsa:9681.
UCSCiuc003alr.3. human. [O75140-10]

Organism-specific databases

CTDi9681.
GeneCardsiDEPDC5.
HGNCiHGNC:18423. DEPDC5.
HPAiHPA054969.
HPA055619.
MalaCardsiDEPDC5.
MIMi604364. phenotype.
614191. gene.
neXtProtiNX_O75140.
Orphaneti101046. Autosomal dominant epilepsy with auditory features.
98784. Autosomal dominant nocturnal frontal lobe epilepsy.
98820. Familial focal epilepsy with variable foci.
1945. Rolandic epilepsy.
PharmGKBiPA134864958.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3572. Eukaryota.
ENOG410XQVG. LUCA.
GeneTreeiENSGT00390000016559.
HOGENOMiHOG000290718.
HOVERGENiHBG051337.
InParanoidiO75140.
OMAiHVTIKLT.
OrthoDBiEOG091G0205.

Miscellaneous databases

ChiTaRSiDEPDC5. human.
GeneWikiiDEPDC5.
GenomeRNAii9681.
PROiO75140.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000100150.
CleanExiHS_DEPDC5.
ExpressionAtlasiO75140. baseline and differential.
GenevisibleiO75140. HS.

Family and domain databases

Gene3Di1.10.10.10. 1 hit.
InterProiIPR000591. DEP_dom.
IPR027244. IML1.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PANTHERiPTHR13179. PTHR13179. 1 hit.
PfamiPF00610. DEP. 1 hit.
PF12257. DUF3608. 1 hit.
[Graphical view]
SMARTiSM00049. DEP. 1 hit.
[Graphical view]
SUPFAMiSSF46785. SSF46785. 1 hit.
PROSITEiPS50186. DEP. 1 hit.
[Graphical view]
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 historyi
Integrated into UniProtKB/Swiss-Prot: April 3, 2002
Last sequence update: May 29, 2013
Last modified: September 7, 2016
This is version 138 of the entry and version 2 of the sequence. [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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.