ENSG00000170266


Homo sapiens

Features
Gene ID: ENSG00000170266
  
Biological name :GLB1
  
Synonyms : galactosidase beta 1 / GLB1 / P16278
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 3
Strand: -1
Band: p22.3
Gene start: 32996608
Gene end: 33097230
  
Corresponding Affymetrix probe sets: 201576_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000382333
Ensembl peptide - ENSP00000411813
Ensembl peptide - ENSP00000411769
Ensembl peptide - ENSP00000407365
Ensembl peptide - ENSP00000403264
Ensembl peptide - ENSP00000401250
Ensembl peptide - ENSP00000387989
Ensembl peptide - ENSP00000305920
Ensembl peptide - ENSP00000306920
NCBI entrez gene - 2720     See in Manteia.
OMIM - 611458
RefSeq - NM_001135602
RefSeq - NM_001317040
RefSeq - NM_001079811
RefSeq - NM_000404
RefSeq Peptide - NP_001129074
RefSeq Peptide - NP_001303969
RefSeq Peptide - NP_000395
RefSeq Peptide - NP_001073279
swissprot - P16278
swissprot - C9JWX1
swissprot - C9JF15
swissprot - C9J539
swissprot - C9J4G9
swissprot - F8WEN1
swissprot - F8WF40
swissprot - E7EQ29
Ensembl - ENSG00000170266
  
Related genetic diseases (OMIM): 230500 - GM1-gangliosidosis, type I, 230500
  230600 - GM1-gangliosidosis, type II, 230600
  230650 - GM1-gangliosidosis, type III, 230650
  253010 - Mucopolysaccharidosis type IVB (Morquio), 253010
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
 glb1ENSDARG00000036415Danio rerio
 GLB1ENSGALG00000040028Gallus gallus
 Glb1ENSMUSG00000045594Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
GLB1L / Q6UWU2 / galactosidase beta 1 likeENSG0000016352152
GLB1L2 / Q8IW92 / galactosidase beta 1 like 2ENSG0000014932836
GLB1L3 / Q8NCI6 / galactosidase beta 1 like 3ENSG0000016610533


Protein motifs (from Interpro)
Interpro ID Name
 IPR001944  Glycoside hydrolase, family 35
 IPR008979  Galactose-binding-like domain superfamily
 IPR017853  Glycoside hydrolase superfamily
 IPR019801  Glycoside hydrolase, family 35, conserved site
 IPR025300  Beta-galactosidase jelly roll domain
 IPR026283  Beta-galactosidase 1-like
 IPR031330  Glycoside hydrolase 35, catalytic domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0005975 carbohydrate metabolic process IEA
 biological_processGO:0006027 glycosaminoglycan catabolic process TAS
 biological_processGO:0006687 glycosphingolipid metabolic process TAS
 biological_processGO:0008152 metabolic process IEA
 biological_processGO:0019388 galactose catabolic process IEA
 biological_processGO:0042340 keratan sulfate catabolic process TAS
 biological_processGO:0043312 neutrophil degranulation TAS
 biological_processGO:0044262 cellular carbohydrate metabolic process IDA
 biological_processGO:0051413 response to cortisone IEA
 biological_processGO:1904016 response to Thyroglobulin triiodothyronine IEA
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005615 extracellular space IEA
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0005764 lysosome IEA
 cellular_componentGO:0005773 vacuole IBA
 cellular_componentGO:0005794 Golgi apparatus IDA
 cellular_componentGO:0035578 azurophil granule lumen TAS
 cellular_componentGO:0043202 lysosomal lumen TAS
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IDA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:1904813 ficolin-1-rich granule lumen TAS
 molecular_functionGO:0004308 exo-alpha-sialidase activity TAS
 molecular_functionGO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds IEA
 molecular_functionGO:0004565 beta-galactosidase activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0016798 hydrolase activity, acting on glycosyl bonds IEA
 molecular_functionGO:0016936 galactoside binding IEA


Pathways (from Reactome)
Pathway description
Glycosphingolipid metabolism
Keratan sulfate degradation
HS-GAG degradation
MPS IV - Morquio syndrome B
Sialic acid metabolism
Neutrophil degranulation


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:0000023 Inguinal hernia 
Show

 HP:0000079 Abnormality of the urinary tract 
Show

 HP:0000154 Wide mouth "Abnormally wide mouth." [HPO:curators]
Show

 HP:0000212 Gingival hyperplasia 
Show

 HP:0000271 Abnormality of the face 
Show

 HP:0000280 Coarse facial features 
Show

 HP:0000303 Mandibular prognathia "Abnormal prominence of the chin related to an abnormally long mandible." [HPO:curators]
Show

 HP:0000316 Hypertelorism 
Show

 HP:0000365 Hearing loss 
Show

 HP:0000457 Flat nose 
Show

 HP:0000470 Short neck 
Show

 HP:0000648 Optic atrophy 
Show

 HP:0000670 Carious teeth 
Show

 HP:0000683 Grayish enamel 
Show

 HP:0000687 Widely spaced teeth 
Show

 HP:0000884 Prominent sternum 
Show

 HP:0000900 Thickened ribs 
Show

 HP:0000904 Flaring of rib cage "The presence of wide, concave anterior rib ends." [HPO:curators]
Show

 HP:0000926 Platyspondyly 
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:0000998 Hypertrichosis "Hypertrichosis is increased hair growth that is abnormal in quantity or location." [HPO:curators]
Show

 HP:0001071 Angiokeratoma corporis diffusum 
Show

 HP:0001223 Pointed proximal second through fifth metacarpals "All of the metacarpal bones of the hand have a pointed proximal appearance." [HPO:curators]
Show

 HP:0001249 Mental retardation 
Show

 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]
Show

 HP:0001256 Mental retardation, mild "Mild mental retardation is defined as an intelligence quotient (IQ) in the range of 50-69." [HPO:curators]
Show

 HP:0001288 Gait disturbance "The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease." [HPO:curators]
Show

 HP:0001332 Dystonia "An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk." [HPO:curators]
Show

 HP:0001350 Slurred speech 
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:0001388 Joint laxity 
Show

 HP:0001392 Abnormality of the liver 
Show

 HP:0001522 Death in infancy 
Show

 HP:0001635 Congestive heart failure "The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction." [HPO:curators]
Show

 HP:0001639 Hypertrophic cardiomyopathy 
Show

 HP:0001644 Dilated cardiomyopathy 
Show

 HP:0001650 Aortic stenosis "The presence of a stenosis (narrowing) of the aortic valve." [HPO:curators]
Show

 HP:0001654 Abnormality of the heart valves "An abnormality of a `Cardiac valve` (FMA:7110)." [HPO:probinson]
Show

 HP:0001743 Abnormality of the spleen 
Show

 HP:0001744 Splenomegaly "An abnormal enlargement of the spleen." [HPO:curators]
Show

 HP:0001871 Hematological abnormality 
Show

 HP:0001922 Vacuolated lymphocytes 
Show

 HP:0001982 Sea-blue histiocytes 
Show

 HP:0002007 Frontal bossing "The presence of an unusually prominent forehead." [HPO:curators]
Show

 HP:0002059 Cerebral atrophy 
Show

 HP:0002091 Restrictive lung disease 
Show

 HP:0002119 Ventriculomegaly 
Show

 HP:0002123 Myoclonic seizures "Myoclonic seizures are sudden, brief losses of consciousness and postural tone not associated with tonic muscular contractions. Myoclonic seizures may involve one body part or the entire body. In the latter case, the myoclonic seizure is accompanied by a violent fall but not by loss of consciousness." [HPO:curators]
Show

 HP:0002240 Hepatomegaly "An abnormal enlargment of the liver." [HPO:curators]
Show

 HP:0002318 Cervical myelopathy 
Show

 HP:0002506 Diffuse cerebral atrophy 
Show

 HP:0002510 Spastic tetraplegia "Spastic paralysis affecting all four limbs." [HPO:curators]
Show

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

 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]
Show

 HP:0002788 Recurrent upper respiratory tract infections 
Show

 HP:0002808 Kyphosis 
Show

 HP:0002857 Genu valgum 
Show

 HP:0002869 Flared iliac wings 
Show

 HP:0003016 Metaphyseal widening "Abnormal widening of the metaphyseal regions of long bones." [HPO:curators]
Show

 HP:0003049 Ulnar deviation of the wrist 
Show

 HP:0003053 Epiphyseal deformities of tubular bones 
Show

 HP:0003202 Amyotrophy "The presence of muscular atrophy (which is also known as amyotrophy)." [HPO:curators]
Show

 HP:0003274 Hypoplastic acetabulae 
Show

 HP:0003277 Constricted iliac wings 
Show

 HP:0003300 Ovoid vertebral bodies 
Show

 HP:0003307 Hyperlordosis 
Show

 HP:0003308 Cervical subluxation "Partial dislocation of one or more intervertebral joints in the cervical spine." [HPO:curators]
Show

 HP:0003311 Hypoplastic odontoid process 
Show

 HP:0003510 Short stature, severe "A severe degree of short stature." [HPO:curators]
Show

 HP:0003521 Short stature, disproportionate (short trunk) 
Show

 HP:0003621 Juvenile onset 
Show

 HP:0003651 Presence of foam cells 
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:0004568 Beaking of vertebral bodies 
Show

 HP:0005292 Intimal thickening in the coronary arteries 
Show

 HP:0007272 Progressive psychomotor deterioration 
Show

 HP:0007281 Developmental arrest 
Show

 HP:0007313 Cerebral degeneration 
Show

 HP:0007759 Corneal opacities, not impairing visual acuity 
Show

 HP:0008166 Decreased beta-galactosidase activity 
Show

 HP:0008430 Mild anterior beaking of lumbar vertebrae 
Show

 HP:0008479 Hypoplastic vertebral bodies 
Show

 HP:0010729 Cherry red spot of the macula 
Show

 HP:0012069 Keratan sulfate excretion in urine "An `increased concentration` (PATO:0001162) of `keratan sulfate` (CHEBI:60924) in the `urine` (FMA:12274)." [HPO:probinson]
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000064601 CTSA / P10619 / cathepsin A  / complex
 ENSG00000204386 NEU1 / Q99519 / neuraminidase 1  / complex






 

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