ENSG00000094914


Homo sapiens

Features
Gene ID: ENSG00000094914
  
Biological name :AAAS
  
Synonyms : AAAS / aladin WD repeat nucleoporin / Q9NRG9
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: -1
Band: q13.13
Gene start: 53307456
Gene end: 53324864
  
Corresponding Affymetrix probe sets: 218075_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000377908
Ensembl peptide - ENSP00000448020
Ensembl peptide - ENSP00000457518
Ensembl peptide - ENSP00000209873
Ensembl peptide - ENSP00000446885
NCBI entrez gene - 8086     See in Manteia.
OMIM - 605378
RefSeq - XM_011538780
RefSeq - NM_001173466
RefSeq - NM_015665
RefSeq - XM_011538778
RefSeq Peptide - NP_001166937
RefSeq Peptide - NP_056480
swissprot - F8VUB6
swissprot - F8VZ44
swissprot - H3BU82
swissprot - Q9NRG9
Ensembl - ENSG00000094914
  
Related genetic diseases (OMIM): 231550 - Achalasia-addisonianism-alacrimia syndrome, 231550
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
 aaasENSDARG00000102274Danio rerio
 AaasENSMUSG00000036678Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR001680  WD40 repeat
 IPR011042  Six-bladed beta-propeller, TolB-like
 IPR015943  WD40/YVTN repeat-like-containing domain superfamily
 IPR017986  WD40-repeat-containing domain
 IPR019775  WD40 repeat, conserved site
 IPR036322  WD40-repeat-containing domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006110 regulation of glycolytic process TAS
 biological_processGO:0006406 mRNA export from nucleus TAS
 biological_processGO:0006409 tRNA export from nucleus TAS
 biological_processGO:0006913 nucleocytoplasmic transport IDA
 biological_processGO:0007077 mitotic nuclear envelope disassembly TAS
 biological_processGO:0007612 learning IEA
 biological_processGO:0009566 fertilization IEA
 biological_processGO:0015031 protein transport IEA
 biological_processGO:0016032 viral process TAS
 biological_processGO:0016925 protein sumoylation TAS
 biological_processGO:0019083 viral transcription TAS
 biological_processGO:0046822 regulation of nucleocytoplasmic transport NAS
 biological_processGO:0051028 mRNA transport IEA
 biological_processGO:0060964 regulation of gene silencing by miRNA TAS
 biological_processGO:0075733 intracellular transport of virus TAS
 biological_processGO:1900034 regulation of cellular response to heat TAS
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005635 nuclear envelope TAS
 cellular_componentGO:0005643 nuclear pore IEA
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005813 centrosome IDA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0016020 membrane HDA
 cellular_componentGO:0031965 nuclear membrane IDA
 cellular_componentGO:0043657 host cell IEA
 molecular_functionGO:0003674 molecular_function ND
 molecular_functionGO:0005515 protein binding IEA


Pathways (from Reactome)
Pathway description
ISG15 antiviral mechanism
Transport of the SLBP independent Mature mRNA
Transport of the SLBP Dependant Mature mRNA
Transport of Mature mRNA Derived from an Intronless Transcript
Transport of Mature mRNA derived from an Intron-Containing Transcript
Rev-mediated nuclear export of HIV RNA
Transport of Ribonucleoproteins into the Host Nucleus
NS1 Mediated Effects on Host Pathways
Viral Messenger RNA Synthesis
NEP/NS2 Interacts with the Cellular Export Machinery
Regulation of Glucokinase by Glucokinase Regulatory Protein
Nuclear import of Rev protein
Vpr-mediated nuclear import of PICs
snRNP Assembly
SUMOylation of DNA damage response and repair proteins
SUMOylation of ubiquitinylation proteins
Nuclear Pore Complex (NPC) Disassembly
Regulation of HSF1-mediated heat shock response
SUMOylation of SUMOylation proteins
SUMOylation of chromatin organization proteins
SUMOylation of RNA binding proteins
SUMOylation of DNA replication proteins
Transcriptional regulation by small RNAs
tRNA processing in the nucleus


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]
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 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]
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 HP:0000407 Hearing loss, sensorineural "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators]
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 HP:0000505 Impaired vision 
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 HP:0000522 Alacrima 
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 HP:0000612 Iris coloboma "A `coloboma` (HP:0000589) of the `iris` (FMA:58235)." [HPO:probinson]
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 HP:0000648 Optic atrophy 
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 HP:0000649 Abnormality of vision evoked potentials 
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 HP:0000830 Hypopituitarism "A condition of reduced function of the pituitary gland characterized by decreased secretion of one or more of the eight pituitary hormones." [HPO:curators]
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 HP:0000846 Adrenal insufficiency 
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 HP:0000953 Hyperpigmentation 
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 HP:0000972 Palmoplantar hyperkeratosis "`Hyperkeratosis` (HP:0000962) affecting the palm of the hand and the sole of the foot." [HPO:probinson]
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 HP:0000982 Palmoplantar keratoderma 
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 HP:0001249 Mental retardation 
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 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]
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 HP:0001251 Ataxia "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators]
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 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]
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 HP:0001260 Dysarthria "Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed." [HPO:curators]
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 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]
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 HP:0001278 Orthostatic hypotension "A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position." [HPO:curators]
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 HP:0001324 Muscle weakness "Reduced strength of muscles." [HPO:curators]
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 HP:0001347 Hyperreflexia "The presence of overactive or overresponsive reflexes." [HPO:curators]
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 HP:0002093 Respiratory insufficiency 
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 HP:0002376 Developmental regression 
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 HP:0002459 Dysautonomia 
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 HP:0002571 Achalasia 
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 HP:0003487 Babinski sign "Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract." [HPO:curators]
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 HP:0003676 Progressive disorder 
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 HP:0004319 Decreased aldosterone production 
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 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]
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 HP:0007002 Sensory and motor axonal neuropathy 
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 HP:0007440 Generalized hyperpigmentation 
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 HP:0008163 Plasma cortisol low 
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 HP:0008259 Adrenocorticotropic hormone -resistant adrenal insufficiency 
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 HP:0009916 Anisocoria "Anisocoria, or unequal pupil size, may represent a benign physiologic variant or a manifestation of disease. Pathologic anisocoria can reflect an abnormality of the musculature of the iris or of the sympathetic or prasympathetic innervation of the iris." [HPO:curators]
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 HP:0011463 Childhood onset "Onset of disease at the age of between 1 and 5 years." [DDD:hfirth]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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