ENSG00000115839


Homo sapiens

Features
Gene ID: ENSG00000115839
  
Biological name :RAB3GAP1
  
Synonyms : Q15042 / RAB3GAP1 / RAB3 GTPase activating protein catalytic subunit 1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 2
Strand: 1
Band: q21.3
Gene start: 135052265
Gene end: 135176394
  
Corresponding Affymetrix probe sets: 212932_at (Human Genome U133 Plus 2.0 Array)   213530_at (Human Genome U133 Plus 2.0 Array)   213531_s_at (Human Genome U133 Plus 2.0 Array)   239527_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000264158
Ensembl peptide - ENSP00000444306
Ensembl peptide - ENSP00000411418
Ensembl peptide - ENSP00000400761
NCBI entrez gene - 22930     See in Manteia.
OMIM - 602536
RefSeq - XM_011510823
RefSeq - XM_011510825
RefSeq - NM_001172435
RefSeq - NM_012233
RefSeq Peptide - NP_001165906
RefSeq Peptide - NP_036365
swissprot - Q15042
swissprot - C9J1R5
swissprot - B9A6J2
Ensembl - ENSG00000115839
  
Related genetic diseases (OMIM): 600118 - Warburg micro syndrome 1, 600118
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 rab3gap1ENSDARG00000098079Danio rerio
 RAB3GAP1ENSGALG00000012214Gallus gallus
 Q80UJ7ENSMUSG00000036104Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR026147  Rab3 GTPase-activating protein catalytic subunit


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007420 brain development IMP
 biological_processGO:0010628 positive regulation of gene expression IEA
 biological_processGO:0021854 hypothalamus development IMP
 biological_processGO:0034389 lipid particle organization IMP
 biological_processGO:0043010 camera-type eye development IMP
 biological_processGO:0043087 regulation of GTPase activity IDA
 biological_processGO:0043547 positive regulation of GTPase activity ISS
 biological_processGO:0048172 regulation of short-term neuronal synaptic plasticity ISS
 biological_processGO:0060079 excitatory postsynaptic potential ISS
 biological_processGO:0060325 face morphogenesis IMP
 biological_processGO:0061646 positive regulation of glutamate neurotransmitter secretion in response to membrane depolarization ISS
 biological_processGO:0097051 establishment of protein localization to endoplasmic reticulum membrane IMP
 biological_processGO:1903061 positive regulation of protein lipidation IMP
 biological_processGO:1903233 regulation of calcium ion-dependent exocytosis of neurotransmitter ISS
 biological_processGO:1903373 positive regulation of endoplasmic reticulum tubular network organization IMP
 biological_processGO:2000786 positive regulation of autophagosome assembly IMP
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane TAS
 cellular_componentGO:0005794 Golgi apparatus IDA
 cellular_componentGO:0005811 lipid droplet IDA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0032991 protein-containing complex IDA
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:0071782 endoplasmic reticulum tubular network IDA
 cellular_componentGO:0098794 postsynapse IEA
 molecular_functionGO:0005085 guanyl-nucleotide exchange factor activity TAS
 molecular_functionGO:0005096 GTPase activator activity IMP
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0017112 Rab guanyl-nucleotide exchange factor activity IMP
 molecular_functionGO:0017137 Rab GTPase binding IPI


Pathways (from Reactome)
Pathway description
COPI-independent Golgi-to-ER retrograde traffic
RAB GEFs exchange GTP for GDP on RABs


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
Show

 HP:0000028 Cryptorchidism "Absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis." [HPO:curators]
Show

 HP:0000044 Hypogonadotrophic hypogonadism "Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH)." [HPO:curators]
Show

 HP:0000060 Hypoplastic clitoris 
Show

 HP:0000064 Hypoplastic labia minora 
Show

 HP:0000126 Hydronephrosis 
Show

 HP:0000218 High palate "Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective)." [pmid:19125428]
Show

 HP:0000221 Furrowed tongue "Accentuation of the grooves on the dorsal surface of the tongue." [pmid:19125428]
Show

 HP:0000232 Everted lower lip 
Show

 HP:0000248 Brachycephaly "Brachycephaly refers to a short, wide head, which is often caused by premature closure of both coronal sutures." [HPO:curators]
Show

 HP:0000252 Microcephaly "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators]
Show

 HP:0000272 Malar hypoplasia "Underdeveloped midface region." [HPO:curators]
Show

 HP:0000322 Short philtrum 
Show

 HP:0000347 Mandibular hypoplasia "Underdevelopment of the mandible." [HPO:curators]
Show

 HP:0000368 Low-set, posteriorly rotated ears 
Show

 HP:0000400 Large ears 
Show

 HP:0000431 Broad nasal bridge "Increased horizontal dimension of the upper, bony part of the nose." [HPO:curators]
Show

 HP:0000463 Nares, anteverted "Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject." [pmid:19152422]
Show

 HP:0000480 Retinal coloboma 
Show

 HP:0000482 Microcornea "A congenital abnormality of the `cornea` (FMA:58238) in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood." [HPO:probinson]
Show

 HP:0000490 Deep set eyes 
Show

 HP:0000508 Ptosis "Drooping of the eyelid." [HPO:curators]
Show

 HP:0000518 Cataract "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson]
Show

 HP:0000519 Congenital cataract "A congenital `cataract` (HP:0000518)." [HPO:probinson]
Show

 HP:0000568 Microphthalmos "A developmental anomaly characterized by abnormal smallness of one or both eyes." [HPO:curators]
Show

 HP:0000601 Hypotelorism 
Show

 HP:0000648 Optic atrophy 
Show

 HP:0000649 Abnormality of vision evoked potentials 
Show

 HP:0000692 Misalignment of teeth 
Show

 HP:0000823 Delayed puberty 
Show

 HP:0000939 Osteoporosis "Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO, osteoporosis is characterized by a value of BMD 2.5 standard deviations or more below the young adult mean." [HPO:curators]
Show

 HP:0001249 Mental retardation 
Show

 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
Show

 HP:0001252 Muscular hypotonia "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators]
Show

 HP:0001257 Spasticity "A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes." [HPO:curators]
Show

 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
Show

 HP:0001264 Spastic diplegia "Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis." [HPO:curators]
Show

 HP:0001274 Agenesis of corpus callosum "Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline." [HPO:curators]
Show

 HP:0001290 Generalized hypotonia "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators]
Show

 HP:0001302 Pachygyria "A congenital abnormality of the cerebral hemisphere chacterized by unusually thick gyrations (convolutions) of the cerebral cortex." [HPO:curators]
Show

 HP:0001320 Cerebellar vermis hypoplasia 
Show

 HP:0001321 Cerebellar hypoplasia 
Show

 HP:0001347 Hyperreflexia "The presence of overactive or overresponsive reflexes." [HPO:curators]
Show

 HP:0001382 Joint hypermobility "The ability of a joint to move beyond its normal range of motion." [HPO:curators]
Show

 HP:0001387 Joint stiffness "Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time." [HPO:curators]
Show

 HP:0001508 Failure to thrive 
Show

 HP:0001511 Intrauterine growth retardation 
Show

 HP:0001845 Overriding toes "A congenital condition in which a toe is adducted, dorsifelxed, and medially deviated, generally lying over the metatarsal phalangeal joint of the adjacent toe. Usually, the fifth toe is affected." [HPO:curators]
Show

 HP:0002059 Cerebral atrophy 
Show

 HP:0002079 Hypoplasia of the corpus callosum "Underdevelopment of the corpus callosum." [HPO:curators]
Show

 HP:0002120 Cerebral cortical atrophy 
Show

 HP:0002162 Low posterior hairline 
Show

 HP:0002219 Facial hypertrichosis 
Show

 HP:0002230 Generalized hirsutism "Abnormally increased hair growth over much of the entire body." [HPO:curators]
Show

 HP:0002650 Scoliosis "The presence of an abnormal lateral curvature of the spine." [HPO:curators]
Show

 HP:0002751 Kyphoscoliosis 
Show

 HP:0002808 Kyphosis 
Show

 HP:0003196 Nasal hypoplasia "Underdevelopment of the `nose` (FMA:46472)." [HPO:probinson]
Show

 HP:0003241 Genital hypoplasia 
Show

 HP:0003307 Hyperlordosis 
Show

 HP:0004322 Decreased body height "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators]
Show

 HP:0005280 Depressed nasal root and bridge 
Show

 HP:0007370 Aplasia/Hypoplasia of the corpus callosum "Absence or underdevelopment of the corpus callosum." [HPO:curators]
Show

 HP:0007477 Abnormal dermatoglyphics "An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles." [HPO:curators]
Show

 HP:0007495 Prematurely aged appearance 
Show

 HP:0007703 Abnormal retinal pigmentation 
Show

 HP:0008388 Abnormality of the toenails 
Show

 HP:0008736 Hypoplasia of penis 
Show

 HP:0008872 Feeding problems in infancy 
Show

 HP:0009465 Ulnar deviation of fingers 
Show

 HP:0009738 Abnormal antihelix "An abnormal form of the antihelix, which is the curved prominence of cartilage, parallel with and in front of the helix, and which divides into the crura antihelicis, between which is a triangular depression, the fossa triangularis." [HPO:curators]
Show

 HP:0009830 Peripheral neuropathy "Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course." [HPO:curators]
Show

 HP:0009832 Abnormality of the distal phalanges of the hand 
Show

 HP:0010864 Mental retardation, severe "Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34." [HPO:probinson]
Show

 HP:0011800 Midface retrusion "Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle." [DDD:jclayton-smith]
Show

 HP:0100542 Abnormal localization of kidneys 
Show

 HP:0100704 Cortical visual impairment "A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye." [HPO:probinson]
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000118873 Q9H2M9 / RAB3GAP2 / RAB3 GTPase activating non-catalytic protein subunit 2  / complex
 ENSG00000203879 GDI1 / P31150 / GDP dissociation inhibitor 1  / reaction
 ENSG00000099246 RAB18 / Q9NP72 / RAB18, member RAS oncogene family  / reaction / complex
 ENSG00000188419 CHM / P24386 / CHM, Rab escort protein 1  / reaction
 ENSG00000057608 GDI2 / P50395 / GDP dissociation inhibitor 2  / reaction
 ENSG00000203668 CHML / P26374 / CHM like, Rab escort protein 2  / reaction






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   


© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr