DEPDC5 - DEP domain containing 5, GATOR1 subcomplex subunit Gene

Also Known as DEP.5; FFEVF; FFEVF1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9681

About DEPDC5

Cytogenetic location: 22q12.2-q12.3 Genomic coordinates (GRCh38): 22:31,753,968-31,908,033 (from NCBI)

This gene has 64 transcripts (splice variants), 211 orthologues and is associated with 5 phenotypes. Ubiquitous expression in testis (RPKM 3.5), ovary (RPKM 3.1) and 25 other tissues.

Summary

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 gene is a component of the GATOR1 (GAP activity toward Rags) complex which inhibits the amino acid-sensing branch of the mTORC1 pathway. Mutations in this gene are associated with autosomal dominant familial focal epilepsy with variable foci. A single nucleotide polymorphism in an intron of this gene has been associated with an increased risk of hepatocellular carcinoma in individuals with chronic hepatitis C virus Infection. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

DEPDC5 Products (13)

mRNA	Protein	Name
NM_001007188.4	NP_001007189.1	GATOR complex protein DEPDC5 isoform 2
NM_001136029.4	NP_001129501.1	GATOR complex protein DEPDC5 isoform 3
NM_001242896.3	NP_001229825.1	GATOR complex protein DEPDC5 isoform 4
NM_001242897.2	NP_001229826.1	GATOR complex protein DEPDC5 isoform 5
NM_001363852.2	NP_001350781.1	GATOR complex protein DEPDC5 isoform 6
NM_001363854.2	NP_001350783.1	GATOR complex protein DEPDC5 isoform 7
NM_001364318.2	NP_001351247.1	GATOR complex protein DEPDC5 isoform 4
NM_001364319.2	NP_001351248.1	GATOR complex protein DEPDC5 isoform 7
NM_001364320.2	NP_001351249.1	GATOR complex protein DEPDC5 isoform 6
NM_001369901.1	NP_001356830.1	GATOR complex protein DEPDC5 isoform 8
NM_001369902.1	NP_001356831.1	GATOR complex protein DEPDC5 isoform 8
NM_001369903.1	NP_001356832.1	GATOR complex protein DEPDC5 isoform 1
NM_014662.6	NP_055477.1	GATOR complex protein DEPDC5 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables protein-containing complex binding	IDA IDA: Inferred from direct assay	23723238	GOA
enables small GTPase binding	IDA IDA: Inferred from direct assay	29590090	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cellular response to amino acid starvation	IDA IDA: Inferred from direct assay	29590090	GOA
involved in cellular response to amino acid starvation	IMP IMP: Inferred from mutant phenotype	23723238	GOA
involved in negative regulation of TORC1 signaling	IDA IDA: Inferred from direct assay	29590090	GOA
involved in negative regulation of TORC1 signaling	IMP IMP: Inferred from mutant phenotype	25457612	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of Cul3-RING ubiquitin ligase complex	IDA IDA: Inferred from direct assay	29769719	GOA
part of GATOR1 complex	IDA IDA: Inferred from direct assay	29590090	GOA
part of GATOR1 complex	IPI IPI: Inferred from physical interaction	25263562	GOA
is active in lysosomal membrane	IDA IDA: Inferred from direct assay	28199306	GOA
located in lysosome	IDA IDA: Inferred from direct assay	23723238	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DEPDC5 Protein Structure

IML1

DEP

0
300
600
900
1200
1552 a.a.

Protein Preferred Names	Protein Names
GATOR complex protein DEPDC5	DEP domain-containing protein 5

Related Diseases

Diseases	Alias
Epilepsy, Familial Focal, With Variable Foci 1	Ffevf Familial Focal Epilepsy With Variable Foci Epilepsy, Partial, With Variable Foci Familial Partial Epilepsy With Variable Foci FFEVF1 Fpevf Partial Epilepsy With Variable Foci Epilepsy, Familial Focal, With Variable Foci Epilepsy, Familial Focal, With Variable Foci, Type 1
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Adnfle Autosomal Dominant Sleep-Related Hypermotor Epilepsy Enfl Benign Familial Infantile Seizures 6 Benign Familial Infantile Seizures, 6 Nocturnal Frontal Lobe Epilepsy-4 Enfl1 Epilepsy, Nocturnal Frontal Lobe, 1 Epilepsy, Nocturnal Frontal Lobe, Type 1
Autosomal Dominant Epilepsy With Auditory Features	Adeaf Adlte Autosomal Dominant Lateral Temporal Epilepsy Adpeaf Autosomal Dominant Lateral Temporal Lobe Epilepsy Partial Epilepsy With Auditory Aura Partial Epilepsy With Auditory Features Epilepsy, Lateral Temporal Lobe, Autosomal Dominant
Benign Epilepsy With Centrotemporal Spikes	Rolandic Epilepsy Benign Rolandic Epilepsy Epilepsy, Rolandic Bcects Benign Childhood Epilepsy With Centrotemporal Spike Sylvan Seizures Becrs Bects Bre Benign Epilepsy Of Childhood With Centrotemporal Spikes Benign Familial Epilepsy Of Childhood With Rolandic Spikes Centrotemporal Epilepsy
Epilepsy	Epilepsy Syndrome Epileptic Syndrome Epilepsies Symptomatic Epilepsies Post Traumatic Epilepsy Traumatic Epilepsy Traumatic Epileptic Epilepsy Due To Hippocampal Sclerosis Epilepsy With Ammon'S Horn Sclerosis Epilepsy Due To Cortical Dysplasia Epilepsy Due To Neuronal Migration Disorders
Continuous Spike-Wave During Slow Sleep Syndrome	Csws Cswss Syndrome Continuous Spikes And Waves During Sleep Continuous Spikes And Waves During Slow-Wave Sleep Epileptic Encephalopathy With Continuous Spike-And-Wave During Slow Sleep Continuous Spike And Waves During Slow Sleep Continuous Spike And Waves During Slow-Wave Sleep Syndrome
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Continuous Spike And Waves During Slow-Wave Sleep Syndrome FESD Epilepsy, Focal, With Speech Disorder And With Or Without Mental Retardation Aphasia, Acquired, With Epilepsy Landau-Kleffner Syndrome Acquired Aphasia With Epilepsy Adresd Bects Benign Epilepsy Of Childhood With Centrotemporal Spikes Csws Cswss Lks Resdad Epilepsy, Focal, With Speech Disorder With/Without Mental Retardation Rolandic Epilepsy, Mental Retardation, And Speech Dyspraxia, Autosomal Dominant Benign Rolandic Epilepsy Aphasia
Focal Epilepsy	Partial Epilepsy Epilepsies, Partial Localisation-Related Epilepsy
Sudden Infant Death Syndrome	SIDS Sudden Infant Death Syndrome, Susceptibility To Cot Death Crib Death Sudden Death Of Nonspecific Cause In Infancy Sudden Infant Death Death, Sudden, Syndrome, Infant
Corneal Dystrophy, Fleck	Fleck Corneal Dystrophy Fcd CFD Corneal Fleck Dystrophy Francois-Neetens Speckled Corneal Dystrophy Corneal Dystrophy, Francois-Neetens Speckled Or Flecked Corneal Dystrophy Francois-Neetens Speckled Or Flecked Dystrophy, Corneal, Fleck
Epilepsy, Familial Temporal Lobe, 3	Epilepsy, Familial Mesial Temporal Lobe Fmtle Familial Temporal Lobe Epilepsy 3 ETL3 Familial Mesial Temporal Lobe Epilepsy
Hepatitis C Virus	Hepatitis C Virus, Susceptibility To Hepatitis C Virus Infection, Response To Therapy Of Hcv Hcv, Susceptibility To Hepatitis C Virus, Resistance To Hepatitis C Virus, Response To Therapy Of Resistance To Hepatitis C Virus
Cerebral Arteritis	Brain Endarteritis Cerebral Or Cerebrospinal Endarteritis Brain Arteritis
Epilepsy, Familial Temporal Lobe, 7	Familial Temporal Lobe Epilepsy 7 ETL7 Epilepsy, Temporal Lobe, Familial, Type 7
Hemimegalencephaly	Unilateral Megalencephaly Macrencephaly
Severe Congenital Neutropenia 8	Autosomal Dominant Severe Congenital Neutropenia 8 With Or Without Pancreatic Dysfunction And/Or Neurological Abnormalities Scn8 Sdsl Shwachman-Diamond Syndrome-Like
Stromal Dystrophy
Partial Motor Epilepsy	Epilepsy, Partial, Motor Epilepsy, Focal Motor Focal Motor Seizure
Schizophrenia 13	SCZD13 Schizophrenia Susceptibility Locus, Chromosome 15q13-Q14-Related Schizophrenia, Susceptibility To, 13
Developmental And Epileptic Encephalopathy 14	Malignant Migrating Partial Seizures Of Infancy Eiee14 Epilepsy Of Infancy With Migrating Focal Seizures Mmpsi DEE14 Epileptic Encephalopathy, Early Infantile, 14 Early Infantile Epileptic Encephalopathy 14 Malignant Migrating Partial Epilepsy Of Infancy Migrating Partial Epilepsy Of Infancy Migrating Partial Seizures Of Infancy Mmpei Mpei Mpsi Malignant Migrating Focal Seizures Of Infancy Migrating Partial Seizures In Infancy Developmental And Epileptic Encephalopathy, 14 Encephalopathy, Epileptic, Early Infantile, Type 14
Subependymal Glioma	Mixed Subependymoma-Ependymoma Subependymal Astrocytoma Who Grade I Ependymal Tumor Glioma, Subependymal
Early Onset Absence Epilepsy
Sturge-Weber Syndrome	SWS Encephalotrigeminal Angiomatosis Encephalofacial Angiomatosis Sturge-Weber-Dimitri Syndrome Sturge-Weber-Krabbe Syndrome Fourth Phacomatosis Leptomeningeal Angiomatosis Meningeal Capillary Angiomatosis Sturge-Weber-Krabbe Angiomatosis Sturge-Weber Syndrome, Somatic, Mosaic Sws Type I - Facial And Leptomeningeal Angiomas Sws Type Ii - Facial Angioma Alone, No Cns Involvement Sws Type Iii - Isolated Leptomeningeal Angiomas Sturge Weber Syndrome Angiomatosis Aculoorbital-Thalamic Syndrome Encephalofacial Hemangiomatosis Encephalofacial Hemangiomatosis Syndrome Meningo-Oculo-Facial Angiomatosis Meningofacial Angiomatosis-Cerebral Calcification Syndrome Neuroretinoangiomatosis Phakomatosis, Sturge-Weber Weber-Sturge-Dimitri Syndrome
Childhood Electroclinical Syndrome
Band Heterotopia	Subcortical Band Heterotopia Double Cortex Syndrome Subcortical Laminar Heterotopia Double Cortex Band Heterotopia Of Brain BH Heco Heterotopic Cortex Familial Band Heterotopia Dc Dc Syndrome Heterotopia, Subcortical Band Sbh Sclh Bhy
Subependymal Giant Cell Astrocytoma	Sega Astrocytoma Subependymal Giant Cell Subependymal Giant-Cell Astrocytoma
Benign Ependymoma	Ependymoma Epithelial Ependymoma Who Grade Ii Ependymal Tumor Myxopapillary Ependymoma
Hypomelanosis Of Ito	Incontinentia Pigmenti Achromians Nevus Of Ito Ipa Ito Hypomelanosis Ito Pigmentation Disorders HMI Incontinentia Pigmenti, Type I, Formerly Ip1, Formerly Bloch-Siemans Syndrome Incontinentia Pigmenti Achromians Syndrome Ito'S Nevus Incontinentia Pigmenti Type 1 Nevi Of Ito Nevus Fuscocaeruleus Acromiodeltoideus Bloch Sulzberger Syndrome Skin Pigmentation Disorder
Benign Familial Infantile Epilepsy	Benign Familial Infantile Seizures Bfie Benign Familial Infantile Convulsion Bfic Bfis Benign Familial Infantile Convulsions Familial Benign Neonatal Epilepsy Watanabe-Vigevano Syndrome
Hepatocellular Carcinoma	Liver Cancer Primary Liver Cancer HCC Hepatoma Malignant Neoplasm Of Liver Liver Neoplasms Cancer, Hepatocellular Liver Cell Carcinoma Lcc Hepatoblastoma, Somatic Hepatic Cancer Primary Malignant Neoplasm Of Liver Rare Tumor Of Liver And Intrahepatic Biliary Tract Hepatocellular Carcinoma, Somatic Hepatocellular Carcinoma, Childhood Type, Somatic Hepatocellular Cancer, Somatic Ca Liver - Primary Hepatic Neoplasm Malignant Hepato-Biliary Neoplasm Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary Malignant Neoplasm Of Liver, Primary Malignant Tumor Of Liver Neoplasm Of Liver Non-Resectable Primary Hepatic Malignant Neoplasm Resectable Malignant Neoplasm Of Liver Resectable Malignant Neoplasm Of The Liver Primary Liver Carcinoma Primary Malignant Liver Neoplasm Primary Cancer Of Liver Primary Tumor Of The Liver Rare Tumor Of Liver And Ibt Hepatocellular Cancer Neoplasm Of The Liver Carcinoma, Hepatocellular Hepatomas Liver Neoplasm Liver Carcinoma Liver And Intrahepatic Biliary Tract Carcinoma Malignant Hepatobiliary Neoplasm Adult Primary Hepatocellular Carcinoma Hepatoblastoma Carcinoma Of Liver Malignant Liver Tumour Malignant Hepatic Tumour
Epilepsy, Familial Temporal Lobe, 1	ETL1 Adpeaf Adlte Epilepsy, Partial, With Auditory Features Autosomal Dominant Partial Epilepsy With Auditory Features Epilepsy, Lateral Temporal Lobe, Autosomal Dominant Familial Temporal Lobe Epilepsy 1 Partial Epilepsy With Auditory Features Autosomal Dominant Lateral Temporal Lobe Epilepsy Lateral Temporal Lobe Epilepsy Autosomal Dominant Epilepsy, Temporal Lobe, Familial, Type 1
Dravet Syndrome	Severe Myoclonic Epilepsy Of Infancy Severe Myoclonic Epilepsy In Infancy Smei Epileptic Encephalopathy, Early Infantile, 6 DRVT Developmental And Epileptic Encephalopathy 6a Dee6a Eiee6 Developmental And Epileptic Encephalopathy, 6 Dee6 Developmental And Epileptic Encephalopathy 6 Early Infantile Epileptic Encephalopathy 6 Myoclonic Epilepsy, Severe, Of Infancy Sme Severe Myoclonus Epilepsy Of Infancy Borderline Smei Smeb Smeb-M Smeb-O Smeb-Sw Smei-Borderland Smei-Borderland More Than One Feature Smei-Borderland-Myoclonic Seizures Smei-Borderland-Spike Wave Intractable Childhood Epilepsy With Generalized Tonic-Clonic Seizures ICEGTC Infantile Severe Myoclonic Epilepsy Epilepsy, Intractable Childhood, With Generalized Tonic-Clonic Seizures
Lennox-Gastaut Syndrome	Lennox Syndrome Encephalopathy Of Childhood Epileptic Encephalopathy Lennox-Gastaut Type Childhood Epileptic Encephalopathy With Diffuse Slow Spikes And Waves Lgs
Autosomal Dominant Severe Congenital Neutropenia	Severe Congenital Neutropenia Autosomal Dominant Neutropenia, Congenital, Severe, Autosomal Dominant
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
Epilepsy, Myoclonic Juvenile	Juvenile Myoclonic Epilepsy Janz Syndrome Jme Myoclonic Epilepsy, Juvenile, Susceptibility To, 1 EJM Myoclonic Epilepsy, Juvenile Petit Mal, Impulsive Myoclonic Epilepsy, Juvenile 1 Myoclonic Epilepsy, Juvenile, 1 Adolescent Myoclonic Epilepsy Juvenile Myoclonus Epilepsy Juvenile Myoclonic Epilepsy 1 EJM1 Petit Mal Impulsive Susceptibility To Juvenile Myoclonic Epilepsy 1 Myoclonic Epilepsy Juvenile Epilepsy, Myoclonic, Juvenile Myoclonic Epilepsy Of Janz Jme - [Juvenile Myoclonic Epilepsy]
Generalized Epilepsy With Febrile Seizures Plus	Gefs+ Genetic Epilepsy With Febrile Seizures Plus Generalized Epilepsy With Febrile Seizures-Plus Genetic Epilepsy With Febrile Seizures-Plus Epilepsy, Generalized, With Febrile Seizures Plus
Epilepsy, Idiopathic Generalized	Idiopathic Generalized Epilepsy Generalised Epilepsy Epilepsy, Generalized EIG Ige Epilepsy, Idiopathic Generalized, Susceptibility To, 1 Epilepsy, Idiopathic Generalized 1 Epilepsy, Idiopathic Generalized, Susceptibility To Epilepsy, Idiopathic, Generalized Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 1
Developmental And Epileptic Encephalopathy	Encephalopathy, Developmental And Epileptic
Periventricular Nodular Heterotopia	Periventricular Heterotopia Pvnh Familial Nodular Heterotopia Heterotopia, Periventricular Periventricular Heterotopia, X-Linked
Childhood Absence Epilepsy	Pyknolepsy Petit Mal Epilepsy Absence Seizures Absence Seizure Petit Mal Seizure Absence Epilepsy, Childhood Pykno-Epilepsy Epilepsy, Absence Absence Epilepsy Pycnolepsy
West Syndrome	Infantile Spasms Infantile Spasms Syndrome Infantile Spasm X-Linked Infantile Spasm Syndrome X-Linked Infantile Spasms Epileptic Encephalopathy, Early Infantile, 1 Is Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg West'S Syndrome Spasms, Infantile Is -[Infantile Spasm] Salaam Spasm Salaam Tic

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03695	DEPDC5 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20545	Depdc5 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27054	Depdc5 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	DEPDC5	VGNC	VGNC:28006
Mus musculus	DEPDC5	MGD	MGI:2141101
Rattus norvegicus	DEPDC5	RGD	RGD:1311535
Canis familiaris	DEPDC5	VGNC	VGNC:39898
Felis catus	DEPDC5	VGNC	VGNC:80436
Others	DEPDC5	NCBI