1. Gene
  2. DEPDC5 - DEP domain containing 5, GATOR1 subcomplex subunit Gene

DEPDC5 - DEP domain containing 5, GATOR1 subcomplex subunit Gene

Homo sapiens

Also known as DEP.5; FFEVF; FFEVF1

Gene ID: 9681 | Gene type: protein coding

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

DEPDC5 Protein Structure

IML1

IML1: Vacuolar membrane-associated protein Iml1 (100 - 381)

DEP

DEP: Domain found in Dishevelled, Egl-10, and Pleckstrin (DEP) (1199 - 1259)

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  • 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

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