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

Summary

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Official Symbol: ARSEprovided by HGNC
Official Full Name: arylsulfatase E (chondrodysplasia punctata 1)provided by HGNC
Primary source: HGNC:719
See related: Ensembl:ENSG00000157399; HPRD:02171; MIM:300180; Vega:OTTHUMG00000137358
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ASE; CDPX; CDPX1; CDPXR
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. [provided by RefSeq, Jul 2008]

Genomic context

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Location :: Xp22.3

Sequence :: Chromosome: X; NC_000023.10 (2852673..2882494, complement)

See ARSE in Epigenomics, MapViewer

Chromosome X - NC_000023.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

Clinical and molecular analysis of ARSE in CDPX1 patients supports heterogeneity for CDPX1-like phenotypes and sorting these out will help to define the biological pathway and genetic contributors. [ARSE]
Title: Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Chondrodysplasia punctata 1, X-linked recessive

MIM: 302950

Genetic Testing Registry

Summary from GeneReviews: Chondrodysplasia Punctata 1, X-Linked

X-linked chondrodysplasia punctata 1 (CDPX1), a congenital disorder of bone and cartilage development, is caused by a deficiency of the Golgi enzyme arylsulfatase E (ARSE). It is characterized by chondrodysplasia punctata (stippled epiphyses), brachytelephalangy (shortening of the distal phalanges), and nasomaxillary hypoplasia. Although most affected males have minimal morbidity and skeletal findings that improve by adulthood, some have significant medical problems including respiratory compromise, cervical spine stenosis and instability, mixed conductive and sensorineural hearing loss, and abnormal cognitive development.

Diagnosis Testing

In approximately 25% of individuals with features of CDPX1, routine karyotype analysis reveals deletions or rearrangements of the short arm of the X chromosome (Xp) that include ARSE. Chromosomal microarray (CMA) can be used to evaluate for smaller interstitial deletion syndromes. Sequence analysis of ARSE identifies mutations in up to 60% to 75% of males who meet clinical diagnostic criteria.

Genetic Counseling

CDPX1 is inherited in an X-linked manner. If the mother of a proband has a disease-causing mutation, the chance of transmitting it in each pregnancy is 50%. Males who inherit the mutation will be affected; females who inherit the mutation will be carriers and thus far have not been affected. Males with CDPX1 pass the disease-causing mutation to all of their daughters and none of their sons. Carrier testing for at-risk relatives and prenatal testing for at-risk pregnancies are possible if the disease-causing mutation has been identified in the family.

References

PMID: 20301713

NHGRI GWAS Catalog

Genome-wide association study of body height in African Americans: the Women's Health Initiative SNP Health Association Resource (SHARe).

Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
P51690	Q9Y2Z9	COQ6	HPRD	PubMed
P51690	Q99608	NDN	HPRD	PubMed
P51690	Q4ZIN3	TMEM259	HPRD	PubMed
P51690	Q07912	TNK2	HPRD	PubMed
BioGRID:106908	BioGRID:119212	COQ6	BioGRID	PubMed	Two-hybrid
BioGRID:106908	BioGRID:110772	NDN	BioGRID	PubMed	Two-hybrid

Pathways from BioSystems

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Estrogen metabolism, organism-specific biosystem (from WikiPathways)
Estrogen metabolism, organism-specific biosystem
Estrogen metabolism
Glycosphingolipid metabolism, organism-specific biosystem (from REACTOME)
Glycosphingolipid metabolism, organism-specific biosystemThe steps involved in the synthesis of glycosphingolipids (sphingolipids with one or more sugars attached) are annotated here (Gault et al. 2010).
Metabolism, organism-specific biosystem (from REACTOME)
Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
Metabolism of proteins, organism-specific biosystem (from REACTOME)
Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
PTM: gamma carboxylation, hypusine formation and arylsulfatase activation, organism-specific biosystem (from REACTOME)
PTM: gamma carboxylation, hypusine formation and arylsulfatase activation, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
Post-translational protein modification, organism-specific biosystem (from REACTOME)
Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
Sphingolipid metabolism, organism-specific biosystem (from REACTOME)
Sphingolipid metabolism, organism-specific biosystemSphingolipids are derivatives of long chain sphingoid bases such as sphingosine (trans-1,3-dihydroxy 2-amino-4-octadecene), an 18-carbon unsaturated amino alcohol which is the most abundant sphingoid...
The activation of arylsulfatases, organism-specific biosystem (from REACTOME)
The activation of arylsulfatases, organism-specific biosystemSulfatase activity requires a unique posttranslational modification (PTM) of a catalytic cysteine residue into a formylglycine. This modification is impaired in patients with multiple sulfatase defic...

General gene information

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Markers

RH66804 (e-PCR)
- UniSTS:87567

G42688 (e-PCR)
- UniSTS:140875

GDB:595763 (e-PCR)
- UniSTS:158028

ARSE_7749 (e-PCR)
- UniSTS:466100

RH75499 (e-PCR)
- UniSTS:86464

Clone Names

MGC163310

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
arylsulfatase activity	TAS Traceable Author Statement more info	PubMed
metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
cellular protein metabolic process	TAS Traceable Author Statement more info
glycosphingolipid metabolic process	TAS Traceable Author Statement more info
post-translational protein modification	TAS Traceable Author Statement more info
skeletal system development	TAS Traceable Author Statement more info	PubMed
small molecule metabolic process	TAS Traceable Author Statement more info
sphingolipid metabolic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
Golgi stack	IEA Inferred from Electronic Annotation more info
endoplasmic reticulum lumen	TAS Traceable Author Statement more info

General protein information

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Preferred Names: arylsulfatase E

Names: arylsulfatase E; chondrodysplasia punctata 1

NP_000038.2

EC 3.1.6.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_007091.1 RefSeqGene

Range

4818..34639

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000047.2 → NP_000038.2 arylsulfatase E precursor

Status: REVIEWED

Source sequence(s)

AC005295, AK223183, AK223199, AW779826

Consensus CDS

CCDS14122.1

UniProtKB/Swiss-Prot

P51690

Related

ENSP00000370526, OTTHUMP00000022851, ENST00000381134, OTTHUMT00000055643

Conserved Domains (2) summary

COG3119
Location:37 – 180
Blast Score: 364

AslA; Arylsulfatase A and related enzymes [Inorganic ion transport and metabolism]

cl10460
Location:38 – 172
Blast Score: 306

Sulfatase; Sulfatase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000023.10 Reference GRCh37.p10 Primary Assembly

Range

2852673..2882494, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000155.1 Alternate HuRef

Range

795878..825985, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018934.1 Alternate CHM1_1.0

Range

2826031..2855836, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01038628.1 (4501..8883)	None
genomic	ABBA01038629.1	None
genomic	ABBA01038630.1	None
genomic	ABBA01038631.1 (5248..12390)	None
genomic	AC005295.1 (58087..87730)	None
genomic	AMYH01022015.1 (88629..118434)	None
genomic	CH471074.1	EAW98717.1
		EAW98718.1
		EAW98719.1
		EAW98720.1
mRNA	AK223183.1	BAD96903.1
mRNA	AK223199.1	BAD96919.1
mRNA	AK293648.1	BAH11556.1
mRNA	AK301004.1	BAH13390.1
mRNA	AK313093.1	BAG35917.1
mRNA	AW779826.1	None
mRNA	BC130438.1	AAI30439.1
mRNA	X83573.1	CAA58556.1
other-genetic	HQ258324.1	ADR83078.1