ARSI (arylsulfatase family member I)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
340075
Gene name Gene Name - the full gene name approved by the HGNC.
Arylsulfatase family member I
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ARSI
Synonyms (NCBI Gene) Gene synonyms aliases
ASI, SPG66
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q32
Summary Summary of gene provided in NCBI Entrez Gene.
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 miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
610009 32521 ENSG00000183876
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Glycosphingolipid metabolism
The activation of arylsulfatases
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Hereditary spastic paraplegia Hereditary spastic paraplegia N/A N/A ClinVar
Spastic Paraplegia spastic paraplegia, autosomal recessive spastic paraplegia type 66 N/A N/A ClinVar, GenCC
Show/Hide Text Mining Associations (9)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
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