Human Gene SULF1 (ENST00000402687.9_4) from GENCODE V47lift37
  Description: sulfatase 1, transcript variant 7 (from RefSeq NR_156415.2)
Gencode Transcript: ENST00000402687.9_4
Gencode Gene: ENSG00000137573.14_9
Transcript (Including UTRs)
   Position: hg19 chr8:70,405,082-70,573,147 Size: 168,066 Total Exon Count: 23 Strand: +
Coding Region
   Position: hg19 chr8:70,476,211-70,570,770 Size: 94,560 Coding Exon Count: 19 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:70,405,082-70,573,147)mRNA (may differ from genome)Protein (871 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCHuman Cortex Gene ExpressionMalacardsMGIOMIMPubMed
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SULF1_HUMAN
DESCRIPTION: RecName: Full=Extracellular sulfatase Sulf-1; Short=hSulf-1; EC=3.1.6.-; Flags: Precursor;
FUNCTION: Exhibits arylsulfatase activity and highly specific endoglucosamine-6-sulfatase activity. It can remove sulfate from the C-6 position of glucosamine within specific subregions of intact heparin. Diminishes HSPG (heparan sulfate proteoglycans) sulfation, inhibits signaling by heparin-dependent growth factors, diminishes proliferation, and facilitates apoptosis in response to exogenous stimulation.
COFACTOR: Binds 1 calcium ion per subunit (By similarity).
BIOPHYSICOCHEMICAL PROPERTIES: pH dependence: Optimum pH is 7.0-8.0;
SUBCELLULAR LOCATION: Endoplasmic reticulum (By similarity). Golgi apparatus, Golgi stack (By similarity). Cell surface (By similarity). Note=Also localized on the cell surface (By similarity).
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, ovarian cancers, breast, pancreatic, renal and hepatocellular carcinoma cell lines.
PTM: The conversion to 3-oxoalanine (also known as C- formylglycine, FGly), of a serine or cysteine residue in prokaryotes and of a cysteine residue in eukaryotes, is critical for catalytic activity (By similarity).
SIMILARITY: Belongs to the sulfatase family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: SULF1
Diseases sorted by gene-association score: mesomelia-synostoses syndrome (13), mesomelia (12), hepatocellular carcinoma (5)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 58.50 RPKM in Artery - Aorta
Total median expression: 346.20 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -211.30669-0.316 Picture PostScript Text
3' UTR -593.002377-0.249 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR017849 - Alkaline_Pase-like_a/b/a
IPR017850 - Alkaline_phosphatase_core
IPR014615 - Extracellular_sulfatase
IPR024609 - Extracellular_sulfatase_C
IPR000917 - Sulfatase
IPR024607 - Sulfatase_CS

Pfam Domains:
PF00884 - Sulfatase
PF12548 - Sulfatase protein

SCOP Domains:
53649 - Alkaline phosphatase-like

ModBase Predicted Comparative 3D Structure on Q8IWU6
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details  Gene Details 
Gene SorterGene Sorter  Gene Sorter 
 RGDEnsembl WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003824 catalytic activity
GO:0004065 arylsulfatase activity
GO:0005509 calcium ion binding
GO:0008449 N-acetylglucosamine-6-sulfatase activity
GO:0008484 sulfuric ester hydrolase activity
GO:0016787 hydrolase activity
GO:0046872 metal ion binding

Biological Process:
GO:0001822 kidney development
GO:0001937 negative regulation of endothelial cell proliferation
GO:0002063 chondrocyte development
GO:0003094 glomerular filtration
GO:0006915 apoptotic process
GO:0008152 metabolic process
GO:0010575 positive regulation of vascular endothelial growth factor production
GO:0014846 esophagus smooth muscle contraction
GO:0016525 negative regulation of angiogenesis
GO:0030177 positive regulation of Wnt signaling pathway
GO:0030201 heparan sulfate proteoglycan metabolic process
GO:0030336 negative regulation of cell migration
GO:0030513 positive regulation of BMP signaling pathway
GO:0032836 glomerular basement membrane development
GO:0035860 glial cell-derived neurotrophic factor receptor signaling pathway
GO:0040036 regulation of fibroblast growth factor receptor signaling pathway
GO:0040037 negative regulation of fibroblast growth factor receptor signaling pathway
GO:0048010 vascular endothelial growth factor receptor signaling pathway
GO:0048706 embryonic skeletal system development
GO:0051216 cartilage development
GO:0060348 bone development
GO:0060384 innervation
GO:0060686 negative regulation of prostatic bud formation

Cellular Component:
GO:0005615 extracellular space
GO:0005783 endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0005795 Golgi stack
GO:0005886 plasma membrane
GO:0009986 cell surface
GO:0045121 membrane raft


-  Descriptions from all associated GenBank mRNAs
  AK095341 - Homo sapiens cDNA FLJ38022 fis, clone CTONG2012879, weakly similar to N-ACETYLGLUCOSAMINE-6-SULFATASE PRECURSOR (EC 3.1.6.14).
AF545571 - Homo sapiens sulfatase SULF1 precursor, mRNA, complete cds.
AK307951 - Homo sapiens cDNA, FLJ97899.
AY101175 - Homo sapiens extracellular sulfatase SULF-1 mRNA, complete cds.
AK055607 - Homo sapiens cDNA FLJ31045 fis, clone HSYRA2000255, weakly similar to N-ACETYLGLUCOSAMINE-6-SULFATASE PRECURSOR (EC 3.1.6.14).
BX571746 - Homo sapiens mRNA; cDNA DKFZp686F13142 (from clone DKFZp686F13142).
EU831741 - Synthetic construct Homo sapiens clone HAIB:100066770; DKFZo003G0920 sulfatase 1 protein (SULF1) gene, encodes complete protein.
EU831658 - Synthetic construct Homo sapiens clone HAIB:100066687; DKFZo007G0919 sulfatase 1 protein (SULF1) gene, encodes complete protein.
AB029000 - Homo sapiens mRNA for KIAA1077 protein, partial cds.
BC068565 - Homo sapiens sulfatase 1, mRNA (cDNA clone MGC:87514 IMAGE:4831138), complete cds.
CU686673 - Synthetic construct Homo sapiens gateway clone IMAGE:100022850 5' read SULF1 mRNA.
KJ902302 - Synthetic construct Homo sapiens clone ccsbBroadEn_11696 SULF1 gene, encodes complete protein.
AK074873 - Homo sapiens cDNA FLJ90392 fis, clone NT2RP2005541, weakly similar to N-ACETYLGLUCOSAMINE-6-SULFATASE PRECURSOR (EC 3.1.6.14).
JD326719 - Sequence 307743 from Patent EP1572962.
JD042095 - Sequence 23119 from Patent EP1572962.
JD176370 - Sequence 157394 from Patent EP1572962.
JD286550 - Sequence 267574 from Patent EP1572962.
JD095906 - Sequence 76930 from Patent EP1572962.
AK123744 - Homo sapiens cDNA FLJ41750 fis, clone HSYRA2007667.
AK055467 - Homo sapiens cDNA FLJ30905 fis, clone FEBRA2005998.
BC012997 - Homo sapiens sulfatase 1, mRNA (cDNA clone IMAGE:3530799), partial cds.
JD510889 - Sequence 491913 from Patent EP1572962.
JD157774 - Sequence 138798 from Patent EP1572962.
JD039226 - Sequence 20250 from Patent EP1572962.
AL136772 - Homo sapiens mRNA; cDNA DKFZp434I0916 (from clone DKFZp434I0916); partial cds.
JD427658 - Sequence 408682 from Patent EP1572962.
JD320613 - Sequence 301637 from Patent EP1572962.
JD190427 - Sequence 171451 from Patent EP1572962.
JD347866 - Sequence 328890 from Patent EP1572962.
JD498969 - Sequence 479993 from Patent EP1572962.
JD173618 - Sequence 154642 from Patent EP1572962.
JD515915 - Sequence 496939 from Patent EP1572962.
JD387420 - Sequence 368444 from Patent EP1572962.
JD190771 - Sequence 171795 from Patent EP1572962.
JD391516 - Sequence 372540 from Patent EP1572962.
JD095556 - Sequence 76580 from Patent EP1572962.
JD248988 - Sequence 230012 from Patent EP1572962.
JD381169 - Sequence 362193 from Patent EP1572962.
JD381170 - Sequence 362194 from Patent EP1572962.
JD460384 - Sequence 441408 from Patent EP1572962.
JD062497 - Sequence 43521 from Patent EP1572962.
JD328373 - Sequence 309397 from Patent EP1572962.
JD490747 - Sequence 471771 from Patent EP1572962.
JD315834 - Sequence 296858 from Patent EP1572962.
JD449299 - Sequence 430323 from Patent EP1572962.
JD495217 - Sequence 476241 from Patent EP1572962.
JD172557 - Sequence 153581 from Patent EP1572962.
JD044298 - Sequence 25322 from Patent EP1572962.
JD066647 - Sequence 47671 from Patent EP1572962.
JD293843 - Sequence 274867 from Patent EP1572962.
JD087739 - Sequence 68763 from Patent EP1572962.
JD239843 - Sequence 220867 from Patent EP1572962.
JD424500 - Sequence 405524 from Patent EP1572962.
JD142595 - Sequence 123619 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000402687.1, ENST00000402687.2, ENST00000402687.3, ENST00000402687.4, ENST00000402687.5, ENST00000402687.6, ENST00000402687.7, ENST00000402687.8, KIAA1077, NR_156415, Q86YV8, Q8IWU6, Q8NCA2, Q9UPS5, SULF1_HUMAN, uc319bxs.1, uc319bxs.2
UCSC ID: ENST00000402687.9_4
RefSeq Accession: NM_001128205.2
Protein: Q8IWU6 (aka SULF1_HUMAN or SUL1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.