ARSI (arylsulfatase family member I)

Gene

• Entrez ID: 340075
• Gene name: Arylsulfatase family member I
• Gene symbol: ARSI
• Synonyms (NCBI Gene): ASI, SPG66
• 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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 610009
• HGNC: 32521
• e!Ensembl: ENSG00000183876

Protein

• UniProt ID: 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

Pathways

Reactome:

Glycosphingolipid metabolism
The activation of arylsulfatases

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARSI-related disorder	Conflicting classifications of pathogenicity; Likely benign; Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 66	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary spastic paraplegia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic paraplegia	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SPASTIC PARAPLEGIA, HEREDITARY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Anxiety	Anxiety Disorder	BEFREE	22542862, 23635830, 28281290, 30007121, 30080889, 30235717, 30560420, 30641847, 31414288, 31539689, 31602535		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	22542862, 23635830, 28281290, 30007121, 30080889, 30235717, 30560420, 30641847, 31414288, 31539689, 31602535		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	30293889		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	30646893		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	30646893		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	27484054		★☆☆☆☆ Found in Text Mining only
Autosomal recessive spastic paraplegia type 66	Spastic Paraplegia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	30560420		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	28269993, 30646893		★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic sensorineural polyneuropathy	Sensorineural Polyneuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colpocephaly	Colpocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	30641847, 31125903, 31414288, 31602535		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	36882486	Associate	★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	BEFREE	19262745		★☆☆☆☆ Found in Text Mining only
Eye Diseases Hereditary	Eye disease	Pubtator	19262745	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	BEFREE	12915601		★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Linear atrophy	Atrophy	BEFREE	27721189		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	30560420		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	31572012		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	30641847, 31125903, 31414288, 31602535		★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	36882486	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	26799587		★☆☆☆☆ Found in Text Mining only
NEUROTICISM	Neuroticism	BEFREE	23635830		★☆☆☆☆ Found in Text Mining only
Panic Disorder	Panic Disorder	BEFREE	22542862, 26361067, 27721189, 29558829, 30235717, 31539689		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	28645017		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	19262745		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	19262745	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	35870182	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	31572012		★☆☆☆☆ Found in Text Mining only