Human Gene ARSH (ENST00000381130.3) from GENCODE V38
  Description: Homo sapiens arylsulfatase family member H (ARSH), mRNA. (from RefSeq NM_001011719)
RefSeq Summary (NM_001011719): Sulfatases, such as ARSH, hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules (Sardiello et al., 2005 [PubMed 16174644]).[supplied by OMIM, Mar 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000381130.3/ ENSP00000370522.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##
Gencode Transcript: ENST00000381130.3
Gencode Gene: ENSG00000205667.3
Transcript (Including UTRs)
   Position: hg38 chrX:3,006,546-3,034,111 Size: 27,566 Total Exon Count: 9 Strand: +
Coding Region
   Position: hg38 chrX:3,006,613-3,033,385 Size: 26,773 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsRNA-Seq ExpressionRNA Structure
Protein StructureOther SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther Names
Methods
Data last updated at UCSC: 2021-09-27 09:51:20

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:3,006,546-3,034,111)mRNA (may differ from genome)Protein (562 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
HPRDLynxMGIneXtProtOMIMPubMed
ReactomeUniProtKB

-  Comments and Description Text from UniProtKB
  ID: ARSH_HUMAN
DESCRIPTION: RecName: Full=Arylsulfatase H; Short=ASH; EC=3.1.6.-;
COFACTOR: Binds 1 calcium ion per subunit (By similarity).
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (Potential).
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.

-  MalaCards Disease Associations
  MalaCards Gene Search: ARSH
Diseases sorted by gene-association score: mucopolysaccharidosis type vi (23), mucopolysaccharidosis iv (19), multiple sulfatase deficiency (18), mucopolysaccharidosis ii (17), metachromatic leukodystrophy (16), ichthyosis, x-linked (15), x-linked chondrodysplasia punctata (13), mucopolysaccharidosis iii (13), ketothiolase deficiency (12), mucopolysaccharidosis iva (10), mucopolysaccharidoses (10), chondrodysplasia punctata syndrome (10), mucopolysaccharidosis type iiia (10), mucopolysaccharidosis-plus syndrome (9), gastric dilatation (9), mucolipidosis ii alpha/beta (7), breast fibroadenoma (5)

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 0.13 RPKM in Esophagus - Mucosa
Total median expression: 0.50 RPKM



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

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -19.4067-0.290 Picture PostScript Text
3' UTR -187.40726-0.258 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
IPR000917 - Sulfatase
IPR024607 - Sulfatase_CS

Pfam Domains:
PF00884 - Sulfatase

ModBase Predicted Comparative 3D Structure on Q5FYA8
FrontTopSide
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-  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 orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
      
      
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003824 catalytic activity
GO:0004065 arylsulfatase activity
GO:0008484 sulfuric ester hydrolase activity
GO:0016787 hydrolase activity
GO:0046872 metal ion binding

Biological Process:
GO:0008152 metabolic process

Cellular Component:
GO:0005788 endoplasmic reticulum lumen
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  AB527111 - Synthetic construct DNA, clone: pF1KE0376, Homo sapiens ARSH gene for arylsulfatase family, member H, without stop codon, in Flexi system.
BC148492 - Synthetic construct Homo sapiens clone IMAGE:100015431, MGC:183032 arylsulfatase family, member H (ARSH) mRNA, encodes complete protein.
BC153085 - Synthetic construct Homo sapiens clone IMAGE:100016343, MGC:184294 arylsulfatase family, member H (ARSH) mRNA, encodes complete protein.
AY875940 - Homo sapiens arylsulfatase H (ARSH) mRNA, complete cds.
AX801696 - Sequence 5 from Patent WO03057869.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q5FYA8 (Reactome details) participates in the following event(s):

R-HSA-1614362 SUMF1 mediates the oxidation of cysteine to formylglycine, producing active arylsulfatases
R-HSA-1660662 Glycosphingolipid metabolism
R-HSA-1663150 The activation of arylsulfatases
R-HSA-428157 Sphingolipid metabolism
R-HSA-163841 Gamma carboxylation, hypusine formation and arylsulfatase activation
R-HSA-556833 Metabolism of lipids
R-HSA-597592 Post-translational protein modification
R-HSA-1430728 Metabolism
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: ARSH_HUMAN, ENST00000381130.1, ENST00000381130.2, NM_001011719, Q5FYA8, uc011mhj.1, uc011mhj.2, uc011mhj.3, uc011mhj.4
UCSC ID: ENST00000381130.3
RefSeq Accession: NM_001011719
Protein: Q5FYA8 (aka ARSH_HUMAN)
CCDS: CCDS35198.1

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