Human Gene ARSA (ENST00000216124.10_7) from GENCODE V47lift37
  Description: arylsulfatase A, transcript variant 4 (from RefSeq NM_001085427.3)
Gencode Transcript: ENST00000216124.10_7
Gencode Gene: ENSG00000100299.18_9
Transcript (Including UTRs)
   Position: hg19 chr22:51,061,182-51,066,580 Size: 5,399 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg19 chr22:51,063,573-51,066,207 Size: 2,635 Coding Exon Count: 8 

Page IndexSequence and LinksPrimersMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureOther SpeciesmRNA DescriptionsOther Names
GeneReviewsModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr22:51,061,182-51,066,580)mRNA (may differ from genome)Protein (509 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
WikipediaBioGrid CRISPR DB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ARSA
Diseases sorted by gene-association score: metachromatic leukodystrophy* (1387), metachromatic leukodystrophy, adult form* (750), metachromatic leukodystrophy, juvenile form* (750), metachromatic leukodystrophy, late infantile form* (247), multiple sulfatase deficiency (41), mucopolysaccharidosis type vi (18), leukodystrophy (14), krabbe disease (14), mucopolysaccharidosis iva (13), sphingolipidosis (11), lysosomal storage disease (10), tay-sachs disease (10), gaucher's disease (9), choroideremia (7), polyneuropathy (7), inclusion-cell disease (5), lipid storage disease (5), inherited metabolic disorder (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 52.80 RPKM in Testis
Total median expression: 899.20 RPKM



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

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -172.70373-0.463 Picture PostScript Text
3' UTR -1147.902391-0.480 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.

-  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 orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Descriptions from all associated GenBank mRNAs
  LF385071 - JP 2014500723-A/192574: Polycomb-Associated Non-Coding RNAs.
JD446528 - Sequence 427552 from Patent EP1572962.
JD285594 - Sequence 266618 from Patent EP1572962.
JD346598 - Sequence 327622 from Patent EP1572962.
JD242603 - Sequence 223627 from Patent EP1572962.
DQ588936 - Homo sapiens piRNA piR-56048, complete sequence.
X52151 - Homo sapiens arylsulphatase A mRNA, complete cds.
BX648618 - Homo sapiens mRNA; cDNA DKFZp686G12235 (from clone DKFZp686G12235).
BC014210 - Homo sapiens arylsulfatase A, mRNA (cDNA clone MGC:20637 IMAGE:4763974), complete cds.
GQ891416 - Homo sapiens clone HEL-S-137 epididymis secretory sperm binding protein mRNA, complete cds.
AK092752 - Homo sapiens cDNA FLJ35433 fis, clone SMINT2002314, highly similar to ARYLSULFATASE A PRECURSOR (EC 3.1.6.8).
AK098659 - Homo sapiens cDNA FLJ25793 fis, clone TST06976, highly similar to ARYLSULFATASE A PRECURSOR (EC 3.1.6.8).
AB448736 - Homo sapiens ARSA mRNA for arylsulfatase A, complete cds.
CR456383 - Homo sapiens ARSA full length open reading frame (ORF) cDNA clone (cDNA clone C22ORF:pGEM.ARSA.V2).
EU832518 - Synthetic construct Homo sapiens clone HAIB:100067547; DKFZo008H0229 arylsulfatase A protein (ARSA) gene, encodes complete protein.
CU012941 - Homo sapiens ARSA, mRNA (cDNA clone IMAGE:100000105), complete cds, with stop codon, in Gateway system.
AK315011 - Homo sapiens cDNA, FLJ95943, Homo sapiens arylsulfatase A (ARSA), mRNA.
KJ901027 - Synthetic construct Homo sapiens clone ccsbBroadEn_10421 ARSA gene, encodes complete protein.
KR710471 - Synthetic construct Homo sapiens clone CCSBHm_00013120 ARSA (ARSA) mRNA, encodes complete protein.
KR710472 - Synthetic construct Homo sapiens clone CCSBHm_00013166 ARSA (ARSA) mRNA, encodes complete protein.
EU832599 - Synthetic construct Homo sapiens clone HAIB:100067628; DKFZo004H0230 arylsulfatase A protein (ARSA) gene, encodes complete protein.
DQ892917 - Synthetic construct clone IMAGE:100005547; FLH190808.01X; RZPDo839E0376D arylsulfatase A (ARSA) gene, encodes complete protein.
DQ896166 - Synthetic construct Homo sapiens clone IMAGE:100010626; FLH190804.01L; RZPDo839E0366D arylsulfatase A (ARSA) gene, encodes complete protein.
KU177918 - Homo sapiens arylsulfatase A isoform 1 (ARSA) mRNA, partial cds.
KU177919 - Homo sapiens arylsulfatase A isoform 2 (ARSA) mRNA, complete cds, alternatively spliced.
AB527110 - Synthetic construct DNA, clone: pF1KE0337, Homo sapiens ARSA gene for arylsulfatase A, without stop codon, in Flexi system.
CU013229 - Homo sapiens ARSA, mRNA (cDNA clone IMAGE:100000009), complete cds, without stop codon, in Gateway system.
AK310564 - Homo sapiens cDNA, FLJ17606.
CU676925 - Synthetic construct Homo sapiens gateway clone IMAGE:100019721 5' read ARSA mRNA.
AK301098 - Homo sapiens cDNA FLJ57896 complete cds, highly similar to Arylsulfatase A precursor (EC 3.1.6.8).
JD329396 - Sequence 310420 from Patent EP1572962.
JD508337 - Sequence 489361 from Patent EP1572962.
JD547774 - Sequence 528798 from Patent EP1572962.
JD400593 - Sequence 381617 from Patent EP1572962.
JD178409 - Sequence 159433 from Patent EP1572962.
JD389253 - Sequence 370277 from Patent EP1572962.
MA620648 - JP 2018138019-A/192574: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: A0A0C4DFZ2, A0A0C4DFZ2_HUMAN, ARSA , ENST00000216124.1, ENST00000216124.2, ENST00000216124.3, ENST00000216124.4, ENST00000216124.5, ENST00000216124.6, ENST00000216124.7, ENST00000216124.8, ENST00000216124.9, NM_001085427, uc317coo.1, uc317coo.2
UCSC ID: ENST00000216124.10_7
RefSeq Accession: NM_000487.6

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene ARSA:
dystonia-ov (Hereditary Dystonia Overview)
mld (Arylsulfatase A Deficiency)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

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