P08236

PTMD Annotation Information

※ Protein Information

Tag	Content
UniProt Accession	BGLR_HUMAN; P08236;
Entrez ID	2990
GenBank Protein ID	NM_000181.3; NM_001284290.1; NM_001293104.1; NM_001293105.1; XM_005250297.3;
GenBank Nucleotide ID	NP_000172.2; NP_001271219.1; NP_001280033.1; NP_001280034.1; XP_005250354.1;
Protein Name	Beta-glucuronidase (EC 3.2.1.31) (Beta-G1)
Gene Name	GUSB
Organism	Homo sapiens
NCBI Taxa ID	9606
Functional Description	Plays an important role in the degradation of dermatan and keratan sulfates. Functional Description Plays an important role in the degradation of dermatan and keratan sulfates.
Sequence (Fasta)	MARGSAVAWA ALGPLLWGCA LGLQGGMLYP QESPSRECKE LDGLWSFRAD FSDNRRRGFE 60 EQWYRRPLWE SGPTVDMPVP SSFNDISQDW RLRHFVGWVW YEREVILPER WTQDLRTRVV 120 LRIGSAHSYA IVWVNGVDTL EHEGGYLPFE ADISNLVQVG PLPSRLRITI AINNTLTPTT 180 LPPGTIQYLT DTSKYPKGYF VQNTYFDFFN YAGLQRSVLL YTTPTTYIDD ITVTTSVEQD 240 SGLVNYQISV KGSNLFKLEV RLLDAENKVV ANGTGTQGQL KVPGVSLWWP YLMHERPAYL 300 YSLEVQLTAQ TSLGPVSDFY TLPVGIRTVA VTKSQFLING KPFYFHGVNK HEDADIRGKG 360 FDWPLLVKDF NLLRWLGANA FRTSHYPYAE EVMQMCDRYG IVVIDECPGV GLALPQFFNN 420 VSLHHHMQVM EEVVRRDKNH PAVVMWSVAN EPASHLESAG YYLKMVIAHT KSLDPSRPVT 480 FVSNSNYAAD KGAPYVDVIC LNSYYSWYHD YGHLELIQLQ LATQFENWYK KYQKPIIQSE 540 YGAETIAGFH QDPPLMFTEE YQKSLLEQYH LGLDQKRRKY VVGELIWNFA DFMTEQSPTR 600 VLGNKKGIFT RQRQPKSAAF LLRERYWKIA NETRYPHSVA KSQCLENSLF T 652 Fasta Sequence >P08236\|GUSB\|Homo sapiens (Human) MARGSAVAWAALGPLLWGCALGLQGGMLYPQESPSRECKELDGLWSFRADFSDNRRRGFEEQWYRRPLWESGPTVDMPVPSSFNDISQDWRLRHFVGWVWYEREVILPERWTQDLRTRVVLRIGSAHSYAIVWVNGVDTLEHEGGYLPFEADISNLVQVGPLPSRLRITIAINNTLTPTTLPPGTIQYLTDTSKYPKGYFVQNTYFDFFNYAGLQRSVLLYTTPTTYIDDITVTTSVEQDSGLVNYQISVKGSNLFKLEVRLLDAENKVVANGTGTQGQLKVPGVSLWWPYLMHERPAYLYSLEVQLTAQTSLGPVSDFYTLPVGIRTVAVTKSQFLINGKPFYFHGVNKHEDADIRGKGFDWPLLVKDFNLLRWLGANAFRTSHYPYAEEVMQMCDRYGIVVIDECPGVGLALPQFFNNVSLHHHMQVMEEVVRRDKNHPAVVMWSVANEPASHLESAGYYLKMVIAHTKSLDPSRPVTFVSNSNYAADKGAPYVDVICLNSYYSWYHDYGHLELIQLQLATQFENWYKKYQKPIIQSEYGAETIAGFHQDPPLMFTEEYQKSLLEQYHLGLDQKRRKYVVGELIWNFADFMTEQSPTRVLGNKKGIFTRQRQPKSAAFLLRERYWKIANETRYPHSVAKSQCLENSLFT

※ PTM-Disease Association

Num	PTM	Disease	Cell Type	Type	PTM Site	PMID
1	Glycosylation	Mucopolysaccharidosis VII		C	N152	7573038
1	[Reference]: The 480GA mutation was found initially in the pseudodeficient mother of a child with mucopolysaccharidosis VII (MPSVII), but it was not on her disease-causing allele, which carried the L176F mutation.

※ Disease Cross-ref Annotation

Database	Annotation
CTD (Curated) (count: 3)	MESH:D016538 ; Mucopolysaccharidosis VII MESH:D009422 ; Nervous System Diseases MESH:D011507 ; Proteinuria
DisGeNet (Curated) (count: 74) (view all)	C0003962; Ascites C0009917; Contracture C0009918; Contracture of joint C0010038; Corneal Opacity C0011053; Deafness C0018772; Hearing Loss, Partial C0018824; Heart valve disease C0019158; Hepatitis C0019209; Hepatomegaly C0019294; Hernia, Inguinal C0019322; Umbilical hernia C0019572; Hirsutism C0020255; Hydrocephalus C0020305; Hydrops Fetalis C0024236; Lymphedema C0025362; Mental Retardation C0026827; Muscle hypotonia C0027746; Nerve Degeneration C0027765; nervous system disorder C0033687; Proteinuria C0037932; Curvature of spine C0038002; Splenomegaly C0085132; Mucopolysaccharidosis VII C0086795; Pfaundler-Hurler Syndrome C0158731; Congenital pectus carinatum C0162298; Joint stiffness C0231791; Toeing-in C0240278; Lymphatic obstruction C0241654; VALVULAR ABNORMALITY C0333068; Flexion contracture C0339789; Congenital deafness C0349588; Short stature C0423903; Low intelligence C0521525; Short neck C0521719; Clouding of corneal stroma C0524851; Neurodegenerative Disorders C0566888; Narrow sacrosciatic notch C0700208; Acquired scoliosis C0917816; Mental deficiency C1328407; Hip Dysplasia C1384666; hearing impairment C1835229; Onset of lymphedema around puberty C1835473; Diaphyseal thickening C1843367; Poor school performance C1844704; Platyspondyly C1845847; Coarse facial features C1846439; ODONTOID HYPOPLASIA C1850530; Flexion contractures of joints C1853241; Flat face C1854718; J-shaped sella turcica C1854749; Pointed proximal metacarpals C1854774; Dermatan sulfate excretion in urine C1855418; Thoracolumbar gibbus deformity C1859126; Stippled epiphyses C1859778; Postnatal growth retardation C3714756; Intellectual Disability C3806482; Recurrent respiratory infections C4020854; Neuro-degenerative disease C4020876; Dull intelligence C4020899; Autosomal recessive predisposition C4021541; Anterior beaking of lumbar vertebrae C4021735; Abnormality of the hip bone C4024726; Mucopolysacchariduria C4025306; Anterior beaking of lower thoracic vertebrae C4025598; Urinary glycosaminoglycan excretion C4025726; Abnormality of the pleura C4072825; Thickened facial skin with coarse facial features C4072841; J-shaped hypophysial fossa C4072842; Omega shaped hypophysial fossa C4082169; Metatarsus Varus C4083076; Increased head circumference C4255213; Increased size of skull C4280663; Increased size of cranium C4280664; Big calvaria
HGMD (count: 55) (view all)	CD982681; Mucopolysaccharidosis VII; Small deletions CD972248; Mucopolysaccharidosis VII; Small deletions CD962032; Mucopolysaccharidosis VII; Small deletions CD982680; Mucopolysaccharidosis VII; Small deletions CG973473; Mucopolysaccharidosis VII; Gross deletions CM092093; Mucopolysaccharidosis VII; Missense/nonsense CM980961; Mucopolysaccharidosis VII; Missense/nonsense CM970706; Mucopolysaccharidosis VII; Missense/nonsense CM970707; Mucopolysaccharidosis VII; Missense/nonsense CM960792; Mucopolysaccharidosis VII; Missense/nonsense CM950596; Mucopolysaccharidosis VII; Missense/nonsense CM960793; Mucopolysaccharidosis VII; Missense/nonsense CM950597; Mucopolysaccharidosis VII; Missense/nonsense CM092094; Mucopolysaccharidosis VII; Missense/nonsense CM950598; Mucopolysaccharidosis VII; Missense/nonsense CM930357; Hydrops fetalis; Missense/nonsense CM092095; Mucopolysaccharidosis VII; Missense/nonsense CM960794; Mucopolysaccharidosis VII; Missense/nonsense CM960795; Mucopolysaccharidosis VII; Missense/nonsense CM960796; Mucopolysaccharidosis VII; Missense/nonsense CM092096; Mucopolysaccharidosis VII; Missense/nonsense CM035953; Mucopolysaccharidosis VII; Missense/nonsense CM960797; Mucopolysaccharidosis VII; Missense/nonsense CM930358; Mucopolysaccharidosis VII; Missense/nonsense CM930359; Mucopolysaccharidosis VII; Missense/nonsense CM092097; Mucopolysaccharidosis VII; Missense/nonsense CM092098; Mucopolysaccharidosis VII; Missense/nonsense CM960798; Mucopolysaccharidosis VII; Missense/nonsense CM910197; Mucopolysaccharidosis VII; Missense/nonsense CM960799; Mucopolysaccharidosis VII; Missense/nonsense CM960800; Mucopolysaccharidosis VII; Missense/nonsense CM960801; Mucopolysaccharidosis VII; Missense/nonsense CM960802; Mucopolysaccharidosis VII; Missense/nonsense CM980962; Mucopolysaccharidosis VII; Missense/nonsense CM960803; Mucopolysaccharidosis VII; Missense/nonsense CM950599; Mucopolysaccharidosis VII; Missense/nonsense CM960804; Mucopolysaccharidosis VII; Missense/nonsense CM950600; Mucopolysaccharidosis VII; Missense/nonsense CM960805; Mucopolysaccharidosis VII; Missense/nonsense CM092099; Mucopolysaccharidosis VII; Missense/nonsense CM960806; Mucopolysaccharidosis VII; Missense/nonsense CM030222; Mucopolysaccharidosis VII; Missense/nonsense CM960807; Mucopolysaccharidosis VII; Missense/nonsense CM092100; Mucopolysaccharidosis VII; Missense/nonsense CM930360; Mucopolysaccharidosis VII; Missense/nonsense CM910198; Mucopolysaccharidosis VII; Missense/nonsense CM980963; Mucopolysaccharidosis VII; Missense/nonsense CM930361; Mucopolysaccharidosis VII; Missense/nonsense CM910199; Mucopolysaccharidosis VII; Missense/nonsense CR056130; Reduced promoter activity, association with; Regulatory CS056091; Increased activity, association with; Splicing CS951430; Mucopolysaccharidosis VII; Splicing CS092092; Mucopolysaccharidosis VII; Splicing CS971755; Mucopolysaccharidosis VII; Splicing CS056092; Increased activity, association with; Splicing
GWASdb (count: 1)	rs17138062; Aortic root size; cardiovascular system disease

※ PTM Sites

PTM	Modification Sites
Phosphorylation (count: 1)	274 NKVVANGTGTQGQLK dbPAF
Ubiquitination (count: 6)	268 RLLDAENKVVANGTG PLMD 359 EDADIRGKGFDWPLL PLMD 368 FDWPLLVKDFNLLRW PLMD 39 ESPSRECKELDGLWS PLMD 576 YHLGLDQKRRKYVVG PLMD 641 RYPHSVAKSQCLENS PLMD

※ Protein-Protein Interaction

Network

Interaction

A

B

Source

P08236	P08236	HPRD; DIP
P08236	P17612	HPRD
P08236	P23141	HPRD
P08236	P50748	BioGRID
P08236	Q14161	IntAct
P08236	Q9UBE0	IntAct