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


Clone ID RefSeq Accession Definition Vector Stock Status *Turnaround time Price Order
OHu16690 NM_001282631 Homo sapiens arylsulfatase E (chondrodysplasia punctata 1) (ARSE), transcript variant 3, mRNA. pcDNA3.1+-DYK On-demand 7-9 Starting from $99
OHu16819 NM_001282628 Homo sapiens arylsulfatase E (chondrodysplasia punctata 1) (ARSE), transcript variant 1, mRNA. pcDNA3.1+-DYK On-demand 7-9 Starting from $99
OHu18347 NM_000047 Homo sapiens arylsulfatase E (chondrodysplasia punctata 1) (ARSE), transcript variant 2, mRNA. pcDNA3.1+-DYK On-demand 7-9 Starting from $99
OHu53914 XM_005274518 PREDICTED: Homo sapiens arylsulfatase E (chondrodysplasia punctata 1) (ARSE), transcript variant X2, mRNA. pcDNA3.1+-DYK On-demand 7-9 Starting from $99
OHu18347 XM_005274519 PREDICTED: Homo sapiens arylsulfatase E (chondrodysplasia punctata 1) (ARSE), transcript variant X3, mRNA. pcDNA3.1+-DYK On-demand 7-9 Starting from $99
OHu53915 XM_005274521 PREDICTED: Homo sapiens arylsulfatase E (chondrodysplasia punctata 1) (ARSE), transcript variant X5, mRNA. pcDNA3.1+-DYK On-demand 7-9 Starting from $99
OHu16690C NM_001282631 Homo sapiens arylsulfatase E (chondrodysplasia punctata 1) (ARSE), transcript variant 3, mRNA. Customized vector On-demand 7-9 Starting from $99
OHu16819C NM_001282628 Homo sapiens arylsulfatase E (chondrodysplasia punctata 1) (ARSE), transcript variant 1, mRNA. Customized vector On-demand 7-9 Starting from $99
OHu18347C NM_000047 Homo sapiens arylsulfatase E (chondrodysplasia punctata 1) (ARSE), transcript variant 2, mRNA. Customized vector On-demand 7-9 Starting from $99
OHu53914C XM_005274518 PREDICTED: Homo sapiens arylsulfatase E (chondrodysplasia punctata 1) (ARSE), transcript variant X2, mRNA. Customized vector On-demand 7-9 Starting from $99
OHu18347C XM_005274519 PREDICTED: Homo sapiens arylsulfatase E (chondrodysplasia punctata 1) (ARSE), transcript variant X3, mRNA. Customized vector On-demand 7-9 Starting from $99
OHu53915C XM_005274521 PREDICTED: Homo sapiens arylsulfatase E (chondrodysplasia punctata 1) (ARSE), transcript variant X5, mRNA. Customized vector On-demand 7-9 Starting from $99

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Mutation services

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

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