P15848

PTMD Annotation Information

※ Protein Information

Tag	Content
UniProt Accession	ARSB_HUMAN; P15848;
Entrez ID	411
GenBank Protein ID	NM_000046.3; NM_198709.2; XM_011543390.1;
GenBank Nucleotide ID	NP_000037.2; NP_942002.1; XP_011541692.1;
Protein Name	Arylsulfatase B (ASB) (EC 3.1.6.12) (N-acetylgalactosamine-4-sulfatase) (G4S)
Gene Name	ARSB
Organism	Homo sapiens
NCBI Taxa ID	9606
Functional Description	Removes sulfate groups from chondroitin-4-sulfate (C4S) and regulates its degradation (PubMed:19306108). Involved in the regulation of cell adhesion, cell migration and invasion in colonic epithelium (PubMed:19306108). In the central nervous system, is a regulator of neurite outgrowth and neuronal plasticity, acting through the control of sulfate glycosaminoglycans and neurocan levels (By similarity). Functional Description Removes sulfate groups from chondroitin-4-sulfate (C4S) and regulates its degradation (PubMed:19306108). Involved in the regulation of cell adhesion, cell migration and invasion in colonic epithelium (PubMed:19306108). In the central nervous system, is a regulator of neurite outgrowth and neuronal plasticity, acting through the control of sulfate glycosaminoglycans and neurocan levels (By similarity).
Sequence (Fasta)	MGPRGAASLP RGPGPRRLLL PVVLPLLLLL LLAPPGSGAG ASRPPHLVFL LADDLGWNDV 60 GFHGSRIRTP HLDALAAGGV LLDNYYTQPL CTPSRSQLLT GRYQIRTGLQ HQIIWPCQPS 120 CVPLDEKLLP QLLKEAGYTT HMVGKWHLGM YRKECLPTRR GFDTYFGYLL GSEDYYSHER 180 CTLIDALNVT RCALDFRDGE EVATGYKNMY STNIFTKRAI ALITNHPPEK PLFLYLALQS 240 VHEPLQVPEE YLKPYDFIQD KNRHHYAGMV SLMDEAVGNV TAALKSSGLW NNTVFIFSTD 300 NGGQTLAGGN NWPLRGRKWS LWEGGVRGVG FVASPLLKQK GVKNRELIHI SDWLPTLVKL 360 ARGHTNGTKP LDGFDVWKTI SEGSPSPRIE LLHNIDPNFV DSSPCPRNSM APAKDDSSLP 420 EYSAFNTSVH AAIRHGNWKL LTGYPGCGYW FPPPSQYNVS EIPSSDPPTK TLWLFDIDRD 480 PEERHDLSRE YPHIVTKLLS RLQFYHKHSV PVYFPAQDPR CDPKATGVWG PWM 534 Fasta Sequence >P15848\|ARSB\|Homo sapiens (Human) MGPRGAASLPRGPGPRRLLLPVVLPLLLLLLLAPPGSGAGASRPPHLVFLLADDLGWNDVGFHGSRIRTPHLDALAAGGVLLDNYYTQPLCTPSRSQLLTGRYQIRTGLQHQIIWPCQPSCVPLDEKLLPQLLKEAGYTTHMVGKWHLGMYRKECLPTRRGFDTYFGYLLGSEDYYSHERCTLIDALNVTRCALDFRDGEEVATGYKNMYSTNIFTKRAIALITNHPPEKPLFLYLALQSVHEPLQVPEEYLKPYDFIQDKNRHHYAGMVSLMDEAVGNVTAALKSSGLWNNTVFIFSTDNGGQTLAGGNNWPLRGRKWSLWEGGVRGVGFVASPLLKQKGVKNRELIHISDWLPTLVKLARGHTNGTKPLDGFDVWKTISEGSPSPRIELLHNIDPNFVDSSPCPRNSMAPAKDDSSLPEYSAFNTSVHAAIRHGNWKLLTGYPGCGYWFPPPSQYNVSEIPSSDPPTKTLWLFDIDRDPEERHDLSREYPHIVTKLLSRLQFYHKHSVPVYFPAQDPRCDPKATGVWGPWM

※ PTM-Disease Association

Num	PTM	Disease	Cell Type	Type	PTM Site	PMID
1	Phosphorylation	Lung cancer/carcinoma		U		3384398; 3606135
1	[Reference]: We identified a cAMP-dependent protein kinase which is responsible for phosphorylation of arylsulfatase B. The protein kinase activity toward the sulfatase was considerably higher in transplanted lung cancer than in normal lung in the presence of cAMP.

※ Disease Cross-ref Annotation

Database	Annotation
CTD (Curated) (count: 1)	MESH:D009087 ; Mucopolysaccharidosis VI
DisGeNet (Curated) (count: 57) (view all)	C0011053; Deafness C0017601; Glaucoma C0018772; Hearing Loss, Partial C0018824; Heart valve disease C0019209; Hepatomegaly C0019294; Hernia, Inguinal C0019322; Umbilical hernia C0019555; Hip Dislocation, Congenital C0019572; Hirsutism C0020255; Hydrocephalus C0024421; Macroglossia C0026709; Mucopolysaccharidosis VI C0038002; Splenomegaly C0086795; Pfaundler-Hurler Syndrome C0149645; Cervical myelopathy C0162298; Joint stiffness C0221358; Long narrow head C0221373; Claw hand C0241654; VALVULAR ABNORMALITY C0339789; Congenital deafness C0392476; Epiphyseal dysplasia C0423250; Corneal stromal opacities C0576093; Knee joint valgus deformity C0581381; Recurrent upper respiratory tract infection C0878544; Cardiomyopathies C1184923; Lumbar lordosis C1384666; hearing impairment C1836542; Depressed nasal bridge C1838662; Metaphyseal irregularity C1845847; Coarse facial features C1846433; Prominent sternum C1846435; Short-trunked dwarfism C1846439; ODONTOID HYPOPLASIA C1846442; Hypoplastic acetabulae C1848654; Broad ribs C1849039; Metaphyseal widening C1854774; Dermatan sulfate excretion in urine C1855665; Ovoid vertebral bodies C1856661; Cloudy cornea C1865027; Hypoplastic iliac wing C1865841; Flared iliac wings C3550546; Depressed nasal root/bridge C4020844; Bullet vertebral body C4020899; Autosomal recessive predisposition C4023114; Anterior wedging of L2 C4024677; Anterior wedging of L1 C4072825; Thickened facial skin with coarse facial features C4083076; Increased head circumference C4255213; Increased size of skull C4280495; Concave bridge of nose C4280566; Abnormal development of end part of bone C4280653; Turridolichocephaly C4280654; Narrow skull shape C4280655; Narrow head shape C4280656; Narrow cranium shape C4280663; Increased size of cranium C4280664; Big calvaria
HGMD (count: 133) (view all)	CD075317; Mucopolysaccharidosis VI; Small deletions CD055637; Mucopolysaccharidosis VI; Small deletions CD075318; Mucopolysaccharidosis VI; Small deletions CD075319; Mucopolysaccharidosis VI; Small deletions CD941599; Mucopolysaccharidosis VI; Small deletions CD075320; Mucopolysaccharidosis VI; Small deletions CD075321; Mucopolysaccharidosis VI; Small deletions CD941598; Mucopolysaccharidosis VI; Small deletions CD961786; Mucopolysaccharidosis VI; Small deletions CD075322; Mucopolysaccharidosis VI; Small deletions CD075323; Mucopolysaccharidosis VI; Small deletions CD040575; Mucopolysaccharidosis VI; Small deletions CD075324; Mucopolysaccharidosis VI; Small deletions CD920833; Mucopolysaccharidosis VI; Small deletions CD075325; Mucopolysaccharidosis VI; Small deletions CD004019; Mucopolysaccharidosis VI; Small deletions CD040576; Mucopolysaccharidosis VI; Small deletions CD075326; Mucopolysaccharidosis VI; Small deletions CG035112; Mucopolysaccharidosis VI; Gross deletions CG942149; Mucopolysaccharidosis VI; Gross deletions CX962674; Mucopolysaccharidosis VI; Small indels CI075598; Mucopolysaccharidosis VI; Small insertions CI080923; Mucopolysaccharidosis VI; Small insertions CI941828; Mucopolysaccharidosis VI; Small insertions CM074036; Mucopolysaccharidosis VI; Missense/nonsense CM074027; Mucopolysaccharidosis VI; Missense/nonsense CM074046; Mucopolysaccharidosis VI; Missense/nonsense CM055092; Mucopolysaccharidosis VI; Missense/nonsense CM990187; Mucopolysaccharidosis VI; Missense/nonsense CM962672; Mucopolysaccharidosis VI; Missense/nonsense CM055093; Mucopolysaccharidosis VI; Missense/nonsense CM074031; Mucopolysaccharidosis VI; Missense/nonsense CM074039; Mucopolysaccharidosis VI; Missense/nonsense CM055091; Mucopolysaccharidosis VI; Missense/nonsense CM074018; Mucopolysaccharidosis VI; Missense/nonsense CM960079; Mucopolysaccharidosis VI; Missense/nonsense CM055094; Mucopolysaccharidosis VI; Missense/nonsense CM960080; Mucopolysaccharidosis VI; Missense/nonsense CM074022; Mucopolysaccharidosis VI; Missense/nonsense CM040376; Mucopolysaccharidosis VI; Missense/nonsense CM074030; Mucopolysaccharidosis VI; Missense/nonsense CM003994; Mucopolysaccharidosis VI; Missense/nonsense CM070022; Mucopolysaccharidosis VI; Missense/nonsense CM074028; Mucopolysaccharidosis VI; Missense/nonsense CM070025; Mucopolysaccharidosis VI; Missense/nonsense CM990188; Mucopolysaccharidosis VI; Missense/nonsense CM920107; Mucopolysaccharidosis VI; Missense/nonsense CM070021; Mucopolysaccharidosis VI; Missense/nonsense CM084856; Mucopolysaccharidosis VI; Missense/nonsense CM910053; Mucopolysaccharidosis VI; Missense/nonsense CM074043; Mucopolysaccharidosis VI; Missense/nonsense CM074041; Mucopolysaccharidosis VI; Missense/nonsense CM952195; Mucopolysaccharidosis VI; Missense/nonsense CM940115; Mucopolysaccharidosis VI; Missense/nonsense CM952196; Mucopolysaccharidosis VI; Missense/nonsense CM952198; Mucopolysaccharidosis VI; Missense/nonsense CM952197; Mucopolysaccharidosis VI; Missense/nonsense CM003995; Mucopolysaccharidosis VI; Missense/nonsense CM940116; Mucopolysaccharidosis VI; Missense/nonsense CM940118; Mucopolysaccharidosis VI; Missense/nonsense CM940117; Mucopolysaccharidosis VI; Missense/nonsense CM066731; Mucopolysaccharidosis VI; Missense/nonsense CM070024; Mucopolysaccharidosis VI; Missense/nonsense CM074040; Mucopolysaccharidosis VI; Missense/nonsense CM074025; Mucopolysaccharidosis VI; Missense/nonsense CM070018; Mucopolysaccharidosis VI; Missense/nonsense CM940119; Mucopolysaccharidosis VI; Missense/nonsense CM055095; Mucopolysaccharidosis VI; Missense/nonsense CM960081; Mucopolysaccharidosis VI; Missense/nonsense CM080075; Pseudodeficient enzyme activity; Missense/nonsense CM074026; Mucopolysaccharidosis VI; Missense/nonsense CM920108; Mucopolysaccharidosis VI; Missense/nonsense CM003915; Mucopolysaccharidosis VI; Missense/nonsense CM074044; Mucopolysaccharidosis VI; Missense/nonsense CM045127; Mucopolysaccharidosis VI; Missense/nonsense CM074042; Mucopolysaccharidosis VI; Missense/nonsense CM074037; Mucopolysaccharidosis VI; Missense/nonsense CM074024; Mucopolysaccharidosis VI; Missense/nonsense CM074034; Mucopolysaccharidosis VI; Missense/nonsense CM970118; Mucopolysaccharidosis VI; Missense/nonsense CM084857; Mucopolysaccharidosis VI; Missense/nonsense CM074023; Mucopolysaccharidosis VI; Missense/nonsense CM074032; Mucopolysaccharidosis VI; Missense/nonsense CM040377; Mucopolysaccharidosis VI; Missense/nonsense CM051846; Mucopolysaccharidosis VI; Missense/nonsense CM074035; Mucopolysaccharidosis VI; Missense/nonsense CM990189; Mucopolysaccharidosis VI; Missense/nonsense CM003996; Mucopolysaccharidosis VI; Missense/nonsense CM003997; Mucopolysaccharidosis VI; Missense/nonsense CM940120; Mucopolysaccharidosis VI; Missense/nonsense CM074048; Mucopolysaccharidosis VI; Missense/nonsense CM074038; Mucopolysaccharidosis VI; Missense/nonsense CM040378; Mucopolysaccharidosis VI; Missense/nonsense CM074017; Mucopolysaccharidosis VI; Missense/nonsense CM074016; Mucopolysaccharidosis VI; Missense/nonsense CM070023; Mucopolysaccharidosis VI; Missense/nonsense CM003998; Mucopolysaccharidosis VI; Missense/nonsense CM074045; Mucopolysaccharidosis VI; Missense/nonsense CM003999; Mucopolysaccharidosis VI; Missense/nonsense CM960082; Mucopolysaccharidosis VI; Missense/nonsense CM014510; Mucopolysaccharidosis VI; Missense/nonsense CM920109; Mucopolysaccharidosis VI; Missense/nonsense CM962421; Mucopolysaccharidosis VI; Missense/nonsense CM070020; Mucopolysaccharidosis VI; Missense/nonsense CM084858; Mucopolysaccharidosis VI; Missense/nonsense CM074021; Mucopolysaccharidosis VI; Missense/nonsense CM074033; Mucopolysaccharidosis VI; Missense/nonsense CM074019; Mucopolysaccharidosis VI; Missense/nonsense CM074020; Mucopolysaccharidosis VI; Missense/nonsense CM070019; Mucopolysaccharidosis VI; Missense/nonsense CM074049; Mucopolysaccharidosis VI; Missense/nonsense CM074050; Mucopolysaccharidosis VI; Missense/nonsense CM970119; Mucopolysaccharidosis VI; Missense/nonsense CM084859; Mucopolysaccharidosis VI; Missense/nonsense CM074029; Mucopolysaccharidosis VI; Missense/nonsense CM074047; Mucopolysaccharidosis VI; Missense/nonsense CM051847; Mucopolysaccharidosis VI; Missense/nonsense CM040379; Mucopolysaccharidosis VI; Missense/nonsense CM960083; Mucopolysaccharidosis VI; Missense/nonsense CM990190; Mucopolysaccharidosis VI; Missense/nonsense CM004000; Mucopolysaccharidosis VI; Missense/nonsense CM940121; Mucopolysaccharidosis VI; Missense/nonsense CM990191; Mucopolysaccharidosis VI; Missense/nonsense CM940122; Mucopolysaccharidosis VI; Missense/nonsense CS075067; Mucopolysaccharidosis VI; Splicing CS075068; Mucopolysaccharidosis VI; Splicing CS075071; Mucopolysaccharidosis VI; Splicing CS055564; Mucopolysaccharidosis VI; Splicing CS075069; Mucopolysaccharidosis VI; Splicing CS075070; Mucopolysaccharidosis VI; Splicing CS070363; Mucopolysaccharidosis VI; Splicing CS070362; Mucopolysaccharidosis VI; Splicing CS040524; Mucopolysaccharidosis VI; Splicing
GWASdb (count: 27) (view all)	rs7732938; Blood Pressure; hypertension rs7704939; Suicidal ideation; major depressive disorder rs7727110; Myopia (pathological); myopia rs16875947; Change in depression severity with Norepinephrine reuptake inhibitors (NRI); major depressive disorder rs7711802; Multiple complex diseases; Null rs7711802; Change in depression severity with Norepinephrine reuptake inhibitors (NRI); major depressive disorder rs16876279; Change in depression severity with Norepinephrine reuptake inhibitors (NRI); major depressive disorder rs6453417; Attention deficit hyperactivity disorder; attention deficit hyperactivity disorder rs337835; Suicide attempts in bipolar disorder; bipolar disorder rs10039384; Suicide attempts in bipolar disorder; bipolar disorder rs180049; Parkinson's disease; Parkinson's disease rs337875; Coronary heart disease; coronary artery disease rs234688; Coronary heart disease; coronary artery disease rs10052939; Urinary metabolites; kidney disease rs337888; Lymphocyte counts; asthma\|leukemia\|lymphoma\|lymphopenia\|cardiovascular system disease rs337887; Lymphocyte counts; asthma\|leukemia\|lymphoma\|lymphopenia\|cardiovascular system disease rs12658000; Urinary metabolites; kidney disease rs337865; Multiple complex diseases; Null rs234687; Lymphocyte counts; asthma\|leukemia\|lymphoma\|lymphopenia\|cardiovascular system disease rs337847; Hippocampal atrophy; Alzheimer's disease rs921945; Neutrophil count; hematopoietic system disease\|Human immunodeficiency virus infectious disease rs13178105; Hemoglobin; hemoglobinopathy rs2052550; Iron status biomarkers; iron metabolism disease rs1841991; Multiple complex diseases; Null rs1717570; Multiple complex diseases; Null rs163125; Lymphocyte counts; asthma\|leukemia\|lymphoma\|lymphopenia\|cardiovascular system disease rs163125; Neutrophil count; hematopoietic system disease\|Human immunodeficiency virus infectious disease

※ PTM Sites

PTM	Modification Sites
Phosphorylation (count: 11) (view all)	100 PSRSQLLTGRYQIRT dbPAF 103 SQLLTGRYQIRTGLQ dbPAF 164 PTRRGFDTYFGYLLG dbPAF 165 TRRGFDTYFGYLLGS dbPAF 168 GFDTYFGYLLGSEDY dbPAF 177 LGSEDYYSHERCTLI dbPAF 190 LIDALNVTRCALDFR dbPAF 204 RDGEEVATGYKNMYS dbPAF 417 MAPAKDDSSLPEYSA dbPAF 491 RHDLSREYPHIVTKL dbPAF 87 VLLDNYYTQPLCTPS dbPAF
Malonylation (count: 1)	318 NWPLRGRKWSLWEGG PLMD

※ Protein-Protein Interaction

Network

Interaction

A

B

Source

H0YBT0	P15848	IntAct
P03372	P15848	IntAct