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ARSE arylsulfatase E (chondrodysplasia punctata 1) [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000047 Homo sapiens arylsulfatase E (chondrodysplasia punctata 1) (ARSE), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $849.00 20
NM_001282628 Homo sapiens arylsulfatase E (chondrodysplasia punctata 1) (ARSE), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $849.00 20
NM_001282631 Homo sapiens arylsulfatase E (chondrodysplasia punctata 1) (ARSE), transcript variant 3, mRNA. GenEZ ORF Cloning On-demand $699.00 18
XM_005274518 PREDICTED: Homo sapiens arylsulfatase E (chondrodysplasia punctata 1) (ARSE), transcript variant X2, mRNA. GenEZ ORF Cloning On-demand $849.00 20
XM_005274519 PREDICTED: Homo sapiens arylsulfatase E (chondrodysplasia punctata 1) (ARSE), transcript variant X3, mRNA. GenEZ ORF Cloning On-demand $849.00 20
XM_005274521 PREDICTED: Homo sapiens arylsulfatase E (chondrodysplasia punctata 1) (ARSE), transcript variant X5, mRNA. GenEZ ORF Cloning On-demand $699.00 18

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Gene Symbol ARSE
Entrez Gene ID 415
Full Name arylsulfatase E (chondrodysplasia punctata 1)
Synonyms ASE, CDPX, CDPX1, CDPXR
General protein information
Preferred Names
arylsulfatase E
Names
arylsulfatase E
chondrodysplasia punctata 1
NP_000038.2
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

X

Xp22.3

Summary Arylsulfatase E is a member of the sulfatase family. It is glycosylated postranslationally and localized to the golgi apparatus. Sulfatases are essential for the correct composition of bone and cartilage matrix. X-linked chondrodysplasia punctata, a disease characterized by abnormalities in cartilage and bone development, has been linked to mutations in this gene. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the Y chromosome. [provided by RefSeq, Sep 2013].
Disorder

MIM: 300180

Chondrodysplasia punctata, X-linked recessive, 302950 (3)

mRNA Protein Product Sequence Price Select
NM_000047, 157266308 NP_000038, 157266309 arylsulfatase E isoform 2 precursor ORF Sequence $700.00
NM_001282628, 544063469 NP_001269557, 544063470 arylsulfatase E isoform 1 ORF Sequence $700.00
NM_001282631, 544063471 NP_001269560, 544063472 arylsulfatase E isoform 3 ORF Sequence $550.00
XM_005274518, 530421107 XP_005274575, 530421108 arylsulfatase E isoform X2 ORF Sequence $700.00
XM_005274519, 578837890 XP_005274576, 530421110 arylsulfatase E isoform X3 ORF Sequence $700.00
XM_005274521, 578837891 XP_005274578, 530421114 arylsulfatase E isoform X5 ORF Sequence $550.00
WikiPathways
WP697Estrogen metabolism
Reactome
REACT_19323Sphingolipid metabolism
REACT_17015Metabolism of proteins
REACT_1069PTM: gamma carboxylation, hypusine formation and arylsulfatase activation
REACT_22258Metabolism of lipids and lipoproteins
REACT_22161Post-translational protein modification
REACT_111217Metabolism
REACT_116105Glycosphingolipid metabolism
REACT_121036The activation of arylsulfatases
Homo sapiens (human)ARSENP_001269557.1
Macaca mulatta (Rhesus monkey)ARSEXP_001116129.1
Canis lupus familiaris (dog)ARSENP_001041587.1
Bos taurus (cattle)ARSENP_001091457.1
Rattus norvegicus (Norway rat)ArseNP_001041350.1
Gallus gallus (chicken)ARSEXP_416856.4
Gallus gallus (chicken)ARSHNP_989703.1
Gallus gallus (chicken)ARSDXP_416855.2
Xenopus (Silurana) tropicalis (western clawed frog)arsdNP_001015952.1
Process
IDNameEvidence
GO:0001501skeletal system developmentTAS
GO:0006665sphingolipid metabolic processTAS
GO:0006687glycosphingolipid metabolic processTAS
GO:0043687post-translational protein modificationTAS
GO:0044267cellular protein metabolic processTAS
GO:0044281small molecule metabolic processTAS
Component
IDNameEvidence
GO:0005788endoplasmic reticulum lumenTAS
GO:0005795Golgi stackIEA
GO:0070062extracellular vesicular exosomeIDA
Function
IDNameEvidence
GO:0004065arylsulfatase activityTAS
GO:0046872metal ion bindingIEA
GeneCards ARSE
UniProt B7Z6V4, B7Z1M0, P51690, A1L484, F5H324, F5GYY5
Vega OTTHUMG00000137358
MIM 300180
Ensembl ENSG00000157399
HGNC 719
HPRD 02171

What is the normal function of the ARSE gene?

The ARSE gene provides instructions for making an enzyme called arylsulfatase E. This enzyme is part of a group known as sulfatases, which are enzymes that help process molecules that contain chemical groups known as sulfates. Sulfatases play important roles in cartilage and bone development.

Within cells, arylsulfatase E is located in the Golgi apparatus, a structure that modifies newly produced enzymes and other proteins. The function of this enzyme is unknown, although researchers believe it participates in a chemical pathway involving vitamin K. Evidence suggests that vitamin K normally plays a role in bone growth and maintenance of bone density.

Interactant

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