ENSG00000127415


Homo sapiens

Features
Gene ID: ENSG00000127415
  
Biological name :IDUA
  
Synonyms : IDUA / iduronidase, alpha-L- / P35475
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 4
Strand: 1
Band: p16.3
Gene start: 986997
Gene end: 1004506
  
Corresponding Affymetrix probe sets: 205057_s_at (Human Genome U133 Plus 2.0 Array)   205059_s_at (Human Genome U133 Plus 2.0 Array)   213723_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000424847
Ensembl peptide - ENSP00000422952
Ensembl peptide - ENSP00000425081
Ensembl peptide - ENSP00000423685
Ensembl peptide - ENSP00000424227
Ensembl peptide - ENSP00000247933
NCBI entrez gene - 3425     See in Manteia.
OMIM - 252800
RefSeq - XM_017008163
RefSeq - NM_000203
RefSeq - XM_011513461
RefSeq Peptide - NP_000194
swissprot - H0Y9R9
swissprot - D6REB5
swissprot - H0Y9B3
swissprot - P35475
swissprot - D6RBD5
swissprot - D6R9D5
Ensembl - ENSG00000127415
  
Related genetic diseases (OMIM): 607014 - Mucopolysaccharidosis Ih, 607014
  607015 - Mucopolysaccharidosis Ih/s, 607015
  607016 - Mucopolysaccharidosis Is, 607016
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
 iduaENSDARG00000062904Danio rerio
 IDUAENSGALG00000015376Gallus gallus
 IduaENSMUSG00000033540Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR000514  Glycoside hydrolase, family 39
 IPR013783  Immunoglobulin-like fold
 IPR017853  Glycoside hydrolase superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0005975 carbohydrate metabolic process IEA
 biological_processGO:0005984 disaccharide metabolic process TAS
 biological_processGO:0006027 glycosaminoglycan catabolic process IEA
 biological_processGO:0008152 metabolic process IEA
 biological_processGO:0030207 chondroitin sulfate catabolic process TAS
 biological_processGO:0030209 dermatan sulfate catabolic process IDA
 cellular_componentGO:0005764 lysosome IEA
 cellular_componentGO:0030135 coated vesicle IEA
 cellular_componentGO:0043202 lysosomal lumen TAS
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0003940 L-iduronidase activity TAS
 molecular_functionGO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds IEA
 molecular_functionGO:0005102 signaling receptor binding IEA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0016798 hydrolase activity, acting on glycosyl bonds IEA


Pathways (from Reactome)
Pathway description
HS-GAG degradation
CS/DS degradation
MPS I - Hurler syndrome


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:0000023 Inguinal hernia 
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 HP:0000154 Wide mouth "Abnormally wide mouth." [HPO:curators]
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 HP:0000158 Macroglossia "Increased length and width of the tongue." [pmid:19125428]
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 HP:0000212 Gingival hyperplasia 
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 HP:0000232 Everted lower lip 
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 HP:0000238 Hydrocephalus 
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 HP:0000256 Macrocephaly "The presence of an abnormally large `skull` (FMA:46565)." [HPO:probinson]
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 HP:0000268 Dolichocephaly 
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 HP:0000280 Coarse facial features 
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 HP:0000283 Broad face 
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 HP:0000293 Full cheeks 
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 HP:0000303 Mandibular prognathia "Abnormal prominence of the chin related to an abnormally long mandible." [HPO:curators]
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 HP:0000347 Mandibular hypoplasia "Underdevelopment of the mandible." [HPO:curators]
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 HP:0000365 Hearing loss 
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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:0000431 Broad nasal bridge "Increased horizontal dimension of the upper, bony part of the nose." [HPO:curators]
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 HP:0000445 Broad nose 
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 HP:0000455 Broad nasal tip 
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 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]
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 HP:0000470 Short neck 
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 HP:0000488 Retinopathy 
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 HP:0000501 Glaucoma "Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure." [HPO:curators]
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 HP:0000546 Retinal degeneration 
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 HP:0000574 Thick eyebrows 
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 HP:0000691 Microdontia 
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 HP:0000716 Depression "A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure." [HPO:curators]
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 HP:0000772 Abnormality of the ribs 
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 HP:0000822 Hypertension "High blood pressure." [HPO:curators]
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 HP:0000889 Abnormality of the clavicles "Any abnormality of the clavicles (collar bones)." [HPO:curators]
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 HP:0000894 Short clavicles 
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 HP:0000940 Abnormality of the diaphyses 
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 HP:0000943 Dysostosis multiplex 
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 HP:0001000 Abnormality of skin pigmentation 
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 HP:0001007 Hirsutism "Abnormally increased hair growth." [HPO:curators]
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 HP:0001249 Mental retardation 
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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: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:0001371 Contractures 
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 HP:0001376 Decreased mobility of joints 
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 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]
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 HP:0001433 Hepatosplenomegaly 
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 HP:0001522 Death in infancy 
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 HP:0001537 Umbilical hernia "Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect." [HPO:curators]
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 HP:0001638 Cardiomyopathy 
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 HP:0001650 Aortic stenosis "The presence of a stenosis (narrowing) of the aortic valve." [HPO:curators]
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 HP:0001653 Mitral regurgitation "An `abnormality of the mitral valve` (HP:0001633) characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction." [HPO:probinson]
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 HP:0001654 Abnormality of the heart valves "An abnormality of a `Cardiac valve` (FMA:7110)." [HPO:probinson]
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 HP:0001659 Aortic insufficiency "An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle." [HPO:curators]
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 HP:0001681 Angina pectoris 
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 HP:0001706 Endocardial fibroelastosis 
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 HP:0001744 Splenomegaly "An abnormal enlargement of the spleen." [HPO:curators]
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 HP:0001761 Pes cavus 
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 HP:0002007 Frontal bossing "The presence of an unusually prominent forehead." [HPO:curators]
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 HP:0002028 Chronic diarrhea 
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 HP:0002092 Pulmonary hypertension 
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 HP:0002180 Neurodegeneration 
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 HP:0002205 Recurrent respiratory infections 
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 HP:0002230 Generalized hirsutism "Abnormally increased hair growth over much of the entire body." [HPO:curators]
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 HP:0002240 Hepatomegaly "An abnormal enlargment of the liver." [HPO:curators]
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 HP:0002313 Spastic paraparesis 
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 HP:0002344 Progressive neurologic deterioration 
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 HP:0002360 Sleep disturbances "An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness." [HPO:curators]
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 HP:0002650 Scoliosis "The presence of an abnormal lateral curvature of the spine." [HPO:curators]
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 HP:0002652 Skeletal dysplasia 
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 HP:0002673 Coxa valga "Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults)." [HPO:curators]
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 HP:0002680 J-shaped sella turcica "A deformity of the sella turcica whereby the sella extends further anterior than normal such that the anterior clinoid process appears to overhang it, giving the appearance of the letter J on imaging of the skull." [HPO:curators]
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 HP:0002777 Tracheal stenosis 
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 HP:0002808 Kyphosis 
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 HP:0002857 Genu valgum 
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 HP:0002869 Flared iliac wings 
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 HP:0002870 Obstructive sleep apnea "A condition characterized by obstruction of the airway and by pauses in breathing during sleep occurring many times during the night. Obstructive sleep apnea is related to a relaxation of muscle tone (which normally occurs during sleep) leading to partial collapse of the soft tissues in the airway with resultant obstruction of the air flow." [HPO:curators]
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 HP:0003275 Narrow pelvis 
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 HP:0003311 Hypoplastic odontoid process 
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 HP:0003320 C1-C2 subluxation "A partial dislocation of the intervertebral joint between the first and second cervical vertebrae." [HPO:curators]
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 HP:0003416 Spinal canal stenosis 
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 HP:0003468 Abnormalities of the vertebrae 
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 HP:0003541 Dermatan and heparan sulfate excretion in urine 
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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:0004490 Calvarial hyperostosis "Excessive growth of the calvarial bone." [HPO:curators]
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 HP:0004586 Biconcave vertebral bodies 
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 HP:0005019 Diaphyseal thickening 
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 HP:0005280 Depressed nasal root and bridge 
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 HP:0005930 Abnormality of the epiphyses 
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 HP:0007256 Mild pyramidal signs 
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 HP:0007759 Corneal opacities, not impairing visual acuity 
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 HP:0007957 Variable degree of corneal opacities 
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 HP:0008155 Acid mucopolysacchariduria 
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 HP:0008802 Hypoplastic femoral head 
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 HP:0009811 Abnormality of the elbow 
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 HP:0011400 Abnormal CNS myelination "An abnormality of `myelination` (GO:0042552) of nerves in the central nervous system." [DDD:fmuntoni]
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 HP:0011968 Feeding difficulties "Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it." [ISCA:eriggs]
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 HP:0012185 Constrictive median neuropathy "Injury to the median nerve caused by its entrapment at the wrist as it traverses through the carpal tunnel. Clinically, constrictive median neuropathy is characterized by pain, paresthesia, and weakness in the median nerve distribution of the hand." [HPO:probinson]
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 HP:0012384 Rhinitis "Inflammation of the nasal mucosa with nasal congestion." [HPO:probinson]
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 HP:0012471 Thick vermilion border "Increased width of the "skin of vermilion border region of upper lip" (FMA:312645)." [HPO:probinson]
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 HP:0030812 Enlarged tonsils "Increase in size of the tonsils, small collections of lymphoid tissue facing into the aerodigestive tract on either side of the back part of the throat." [] {comment="HPO:probinson"}
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 HP:0040129 Abnormal nerve conduction velocity 
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 HP:0100021 Cerebral paralysis "Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behaviour, by epilepsy, and by secondary musculoskeletal problems." [HPO:sdoelken]
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 HP:0100490 Camptodactyly (hands) "Contractures of one ore more joints of the fingers." [HPO:sdoelken]
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 HP:0100729 Large face 
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 HP:0100765 Abnormality of the tonsils "An abnormality of the `tonsils` (FMA:9609)." [HPO:probinson]
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 HP:0100790 Hernia 
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 HP:0410018 Recurrent ear infections "Increased susceptibility to ear infections, as manifested by recurrent episodes of ear infections." [orcid.org/0000-0001-5208-3432]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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