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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
12
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 ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Anophthalmia-microphthalmia syndrome Conflicting classifications of pathogenicity 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
CERVICAL CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 21599997
★☆☆☆☆
Found in Text Mining only
Adult Hepatocellular Carcinoma Liver carcinoma BEFREE 21853101
★☆☆☆☆
Found in Text Mining only
Alveolitis Extrinsic Allergic Extrinsic allergic alveolitis Pubtator 37800807 Associate
★☆☆☆☆
Found in Text Mining only
Benign Prostatic Hyperplasia Benign Prostatic Hyperplasia BEFREE 17044071
★☆☆☆☆
Found in Text Mining only
Bone Diseases Bone disease Pubtator 32413029 Inhibit
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Brain Neoplasms BEFREE 25325976
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Brain neoplasms Pubtator 28525382 Stimulate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 16778174, 17363371, 21266348
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 21599997 Stimulate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 24911625, 30236106, 32377705 Associate
★☆☆☆☆
Found in Text Mining only