Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Gene: ARSL (arylsulfatase L) Homo sapiens
Analyze
Symbol: ARSL
Name: arylsulfatase L
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ARSE; arylsulfatase E; arylsulfatase E (chondrodysplasia punctata 1); ASE; CDPX; CDPX1; CDPXR; chondrodysplasia punctata 1; MGC163310
Orthologs:
Rattus norvegicus (Norway rat) : Arse (arylsulfatase E)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Arsl (arylsulfatase L)
Pan paniscus (bonobo/pygmy chimpanzee) : ARSL (arylsulfatase L)
Canis lupus familiaris (dog) : ARSE (arylsulfatase E)
Sus scrofa (pig) : ARSE (arylsulfatase E (chondrodysplasia punctata 1))
more info ...
Related Pseudogenes: ARSLP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X2,934,521 - 2,968,312 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X2,852,673 - 2,886,345 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X2,862,673 - 2,892,494 (-)NCBINCBI36hg18NCBI36
Build 34X2,846,212 - 2,875,672NCBI
CeleraX7,132,912 - 7,162,720 (-)NCBI
Cytogenetic MapXp22.33NCBI
HuRefX795,878 - 825,985 (-)NCBIHuRef
CHM1_1X2,883,876 - 2,917,560 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on ARSL
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1312633
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2019-10-08
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.