Gene Gene information from NCBI Gene database.
Entrez ID 23213
Gene name Sulfatase 1
Gene symbol SULF1
Synonyms (NCBI Gene)
SULF-1
Chromosome 8
Chromosome location 8q13.2-q13.3
Summary This gene encodes an extracellular heparan sulfate endosulfatase. The encoded enzyme selectively removes 6-O-sulfate groups from heparan sulfate chains of heparan sulfate proteoglycans (HSPGs). The enzyme is secreted through the Golgi and is subsequently
miRNA miRNA information provided by mirtarbase database.
519
miRTarBase ID miRNA Experiments Reference
MIRT005970 hsa-miR-516a-3p Northern blotqRT-PCRWestern blot 21169410
MIRT005970 hsa-miR-516a-3p Northern blotqRT-PCRWestern blot 21169410
MIRT022965 hsa-miR-124-3p Microarray 18668037
MIRT734636 hsa-miR-378a-3p Luciferase reporter assayMicroarrayqRT-PCR 32866261
MIRT1402616 hsa-miR-548p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
72
GO ID Ontology Definition Evidence Reference
GO:0001822 Process Kidney development IEA
GO:0001822 Process Kidney development ISS
GO:0001937 Process Negative regulation of endothelial cell proliferation IDA 16778174
GO:0002063 Process Chondrocyte development IEA
GO:0002063 Process Chondrocyte development ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610012 20391 ENSG00000137573
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IWU6
Protein name Extracellular sulfatase Sulf-1 (hSulf-1) (Arylsulfatase) (EC 3.1.6.1) (N-acetylglucosamine-6-sulfatase) (EC 3.1.6.14) [Cleaved into: Extracellular sulfatase Sulf-2 secreted form]
Protein function Exhibits arylsulfatase activity and highly specific endoglucosamine-6-sulfatase activity (PubMed:12368295, PubMed:12686563). It can remove sulfate from the C-6 position of glucosamine within specific subregions of intact heparin (PubMed:12368295
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00884 Sulfatase 43 374 Sulfatase Family
PF12548 DUF3740 534 679 Sulfatase protein Family
Tissue specificity TISSUE SPECIFICITY: Expressed at highest levels in testis, stomach, skeletal muscle, lung, kidney, pancreas, small intestine and colon. It is also detected in normal ovarian surface epithelial cells. Down-regulation seen in ovarian carcinoma cell lines, o
Sequence
MKYSCCALVLAVLGTELLGSLCSTVRSPRFRGRIQQERKNIRPNIILVLTDDQDVELGSL
QVMNKTRKIMEHGGATFINAFVTTPMCCPSRSSMLTGKYVHNHNVYTNNENCSSPSWQAM
HEPRTFAVYLNNTGYRTAFFGKYLNEYNGSYIPPGWREWLGLIKNSRFYNYTVCRNGIKE
KHGFDYAKDYFTDLITNESINYFKMSKRMYPHRPVMMVISHAAPHGPEDSAPQFSKLYPN
ASQHITPSYNYAPNMDKHWIMQYTGPMLPIHMEFTNILQRKRLQTLMSVDDSVERLYNML
VETGELENTYIIYTADHGYHIGQFGLVKGKSMPYDFDIRVPFFIRGPSVEPGSIVPQIVL
NIDLAPTILDIAGL
DTPPDVDGKSVLKLLDPEKPGNRFRTNKKAKIWRDTFLVERGKFLR
KKEESSKNIQQSNHLPKYERVKELCQQARYQTACEQPGQKWQCIEDTSGKLRIHKCKGPS
DLLTVRQSTRNLYARGFHDKDKECSCRESGYRASRSQRKSQRQFLRNQGTPKYKPRFVHT
RQTRSLSVEFEGEIYDINLEEEEELQVLQPRNIAKRHDEGHKGPRDLQASSGGNRGRMLA
DSSNAVGPPTTVRVTHKCFILPNDSIHCERELYQSARAWKDHKAYIDKEIEALQDKIKNL
REVRGHLKRRKPEECSCSK
QSYYNKEKGVKKQEKLKSHLHPFKEAAQEVDSKLQLFKENN
RRRKKERKEKRRQRKGEECSLPGLTCFTHDNNHWQTAPFWNLGSFCACTSSNNNTYWCLR
TVNETHNFLFCEFATGFLEYFDMNTDPYQLTNTVHTVERGILNQLHVQLMELRSCQGYKQ
CNPRPKNLDVGNKDGGSYDLHRGQLWDGWEG
Sequence length 871
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
8
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Anophthalmia-microphthalmia syndrome Conflicting classifications of pathogenicity rs538017286 RCV000207377
EBV-positive nodal T- and NK-cell lymphoma Likely benign rs1407025182, rs2537349059 RCV004557972
RCV004557973
SULF1-related disorder Likely benign; Benign rs561821873, rs138186217, rs140509610, rs775061008 RCV003958580
RCV003978623
RCV003916288
RCV003924712
Uterine carcinosarcoma Benign rs1078494 RCV005921817
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abortion Habitual Associate 24322345
Adenocarcinoma Associate 38250763
Adenocarcinoma of Lung Associate 21599997
Adenoma Associate 30175151
Alveolitis Extrinsic Allergic Associate 37800807
Bone Diseases Inhibit 32413029
Brain Neoplasms Stimulate 28525382
Breast Neoplasms Stimulate 21599997
Breast Neoplasms Associate 24911625, 30236106, 32377705
Carcinogenesis Associate 29991755