Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	340075
Gene name	Arylsulfatase family member I
Gene symbol	ARSI
Synonyms (NCBI Gene)	ASISPG66
Chromosome	5
Chromosome location	5q32
Summary	This gene encodes a protein that belongs to a large family of sulfatases that hydrolyze sulfate esters and sulfamates. Members of this family play a role in several cellular processes, including hormone synthesis, cell signaling in development and degrada

Show/Hide all (14)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017749	hsa-miR-335-5p	Microarray	18185580
MIRT2176412	hsa-miR-3622a-3p	CLIP-seq
MIRT2176413	hsa-miR-3622b-3p	CLIP-seq
MIRT2176414	hsa-miR-4457	CLIP-seq
MIRT2176415	hsa-miR-513b	CLIP-seq
MIRT2176416	hsa-miR-544b	CLIP-seq
MIRT2479664	hsa-miR-1252	CLIP-seq
MIRT2479665	hsa-miR-3180-5p	CLIP-seq
MIRT2479666	hsa-miR-520a-5p	CLIP-seq
MIRT2479667	hsa-miR-525-5p	CLIP-seq
MIRT2479664	hsa-miR-1252	CLIP-seq
MIRT2479665	hsa-miR-3180-5p	CLIP-seq
MIRT2479666	hsa-miR-520a-5p	CLIP-seq
MIRT2479667	hsa-miR-525-5p	CLIP-seq

Show/Hide all (10)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004065	Function	Arylsulfatase activity	IEA
GO:0004065	Function	Arylsulfatase activity	TAS	16174644
GO:0005515	Function	Protein binding	IPI	25416956
GO:0005576	Component	Extracellular region	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0008484	Function	Sulfuric ester hydrolase activity	IBA
GO:0008484	Function	Sulfuric ester hydrolase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
610009	32521	ENSG00000183876

Q5FYB1

Protein name

Arylsulfatase I (ASI) (EC 3.1.6.-)

Protein function

Displays arylsulfatase activity at neutral pH, when co-expressed with SUMF1; arylsulfatase activity is measured in the secretion medium of retinal cell line, but no activity is recorded when measured in cell extracts (PubMed:19262745). Lacks ary

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00884	Sulfatase	47 → 360	Sulfatase	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in placenta, in embryonic stem cells, fetal eyes and lens. {ECO:0000269|PubMed:16500042, ECO:0000269|PubMed:19262745}.

Sequence

MHTLTGFSLVSLLSFGYLSWDWAKPSFVADGPGEAGEQPSAAPPQPPHIIFILTDDQGYH
DVGYHGSDIETPTLDRLAAKGVKLENYYIQPICTPSRSQLLTGRYQIHTGLQHSIIRPQQ
PNCLPLDQVTLPQKLQEAGYSTHMVGKWHLGFYRKECLPTRRGFDTFLGSLTGNVDYYTY
DNCDGPGVCGFDLHEGENVAWGLSGQYSTMLYAQRASHILASHSPQRPLFLYVAFQAVHT
PLQSPREYLYRYRTMGNVARRKYAAMVTCMDEAVRNITWALKRYGFYNNSVIIFSSDNGG
QTFSGGSNWPLRGRKGTYWEGGVRGLGFVHSPLLKRKQRTSRALMHITDWYPTLVGLAGG
TTSAADGLDGYDVWPAISEGRASPRTEILHNIDPLYNHAQHGSLEGGFGIWNTAVQAAIR
VGEWKLLTGDPGYGDWIPPQTLATFPGSWWNLERMASVRQAVWLFNISADPYEREDLAGQ
RPDVVRTLLARLAEYNRTAIPVRYPAENPRAHPDFNGGAWGPWASDEEEEEEEGRARSFS
RGRRKKKCKICKLRSFFRKLNTRLMSQRI

Sequence length

569

Interactions

View interactions

	Reactome
			Glycosphingolipid metabolism The activation of arylsulfatases

128

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
ARSI-related disorder	Conflicting classifications of pathogenicity; Likely benign; Benign; Uncertain significance	rs143451969, rs150264448, rs2532427971, rs77878118, rs148519839, rs76556550, rs144550163, rs140546154, rs759105703	RCV003973476 RCV003909199 RCV003954353 RCV003979979 RCV003905393 RCV004758044 RCV003955745 RCV003965761 RCV003938579
Hereditary spastic paraplegia	Uncertain significance	rs139095592, rs150211860	RCV000515891 RCV000516087
Spastic paraplegia	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	rs149473787, rs142729073, rs201427501, rs2150320297, rs771488404, rs2150320589, rs1413488427, rs149029950, rs6579784, rs201857076, rs1217868286, rs758238707, rs140478189, rs764276956, rs2150320319 View all (94 more)	RCV001321071 RCV001326534 RCV001343370 RCV001360787 RCV001359863 RCV001395523 RCV001456900 RCV001480594 RCV001518407 RCV001867308 RCV001970726 RCV002032134 RCV001953017 RCV001926481 RCV001874174 RCV002040785 RCV001914820 RCV002003490 RCV001913558 RCV001979760 RCV001957019 RCV003074179 RCV003080531 RCV003121080 RCV002646177 RCV002650240 RCV002685558 RCV002690612 RCV002755743 RCV002795144 RCV002761405 RCV002780241 RCV002781274 RCV002790428 RCV002913775 RCV002885908 RCV002937524 RCV002933734 RCV002948796 RCV002999744 RCV003049694 RCV005102635 RCV005104110 RCV003590553 RCV003590602 RCV003590936 RCV003590844 RCV003590896 RCV003589245 RCV003589427 RCV003590073 RCV003591004 RCV003752441 RCV003751483 RCV003751448 RCV003853416 RCV003874273 RCV003870358 RCV001298585 RCV000546850 RCV000556905 RCV000543657 RCV000532559 RCV000532124 RCV000533474 RCV000555164 RCV000558336 RCV000540431 RCV000640998 RCV000641003 RCV000641002 RCV000640999 RCV001510003 RCV000641000 RCV000695072 RCV000819029 RCV000810833 RCV000822345 RCV000798260 RCV000813587 RCV000799951 RCV000805935 RCV000873875 RCV000873750 RCV001457746 RCV001397049 RCV001454596 RCV000878946 RCV003768712 RCV001513383 RCV000876126 RCV000950975 RCV000971212 RCV001068493 RCV001068868 RCV001046989 RCV001037126 RCV001062552 RCV001038921 RCV001216720 RCV001204764 RCV001208599 RCV001213172 RCV001229429 RCV001233205 RCV001228153 RCV001240252 RCV001247410 RCV001391412 RCV001303292 RCV001297860 RCV001298211 RCV001306250

Show/Hide Text Mining Associations (9)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Diabetes Mellitus	Associate	36882486
Eye Diseases Hereditary	Associate	19262745
Hypoxia Brain	Associate	36882486
Inflammation	Associate	35870182
Myotonic Dystrophy	Associate	36882486
Neoplasms	Associate	35870182
Prostatic Neoplasms Castration Resistant	Inhibit	39352383
Retinitis Pigmentosa	Associate	19262745
Squamous Cell Carcinoma of Head and Neck	Associate	35870182

ARSI (arylsulfatase family member I)