Property Summary

NCBI Gene PubMed Count 111
Grant Count 33
R01 Count 10
Funding $9,494,030.43
PubMed Score 316.04
PubTator Score 650.38

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
malignant mesothelioma -2.200 0.000
osteosarcoma -1.652 0.000

 GWAS Trait (1)

Protein-protein Interaction (5)

Gene RIF (40)

PMID Text
25297594 Data indicate a significant correlation between the mutation of c.622delC(p.His208Metfs*46) in the arylsulfatase A (ARSA) gene and the phenotype OF metachromatic leukodystrophy.
24989669 We report three families with Arylsulphatase A partial deficit in which we can find a high recurrence of parkinsonism among the siblings.
24001781 Sixteen novel mutations that cause metachromatic leukodystrophy have been identified in the arylsulfatase A gene.
23689179 Arylsulphatase A activity in human endometrial polyps inversely correlates with aging
23247813 HSPA2 regulates the expression of sperm surface receptors involved in human sperm-oocyte recognition, such as arylsulfatase A and SPAM1.
23209833 The interaction between SPAM1, ARSA and HSPA2 in a multimeric complex mediating sperm-egg interaction.
23192358 Studied brain uptake in the rhesus monkey of a fusion protein of arylsulfatase a and a monoclonal antibody against the human insulin receptor.
21966540 This is the first report that human adipocytes express functional DAR and ARSA, suggesting a regulatory role for peripheral DA in adipose functions.
21695197 The purpose was to estimate the birth prevalence of Metachromatic leukodystrophy in Poland by determining population frequency of the common pathogenic ARSA gene mutations and to compare this estimate with epidemiological data.
21648305 The presence of two most common mutations associated with Arylsulfatase A pseudodeficiency was analyzed in 56 patients with diagnosis of relapsing-remitting multiple sclerosis, by polymerase chain reaction restriction fragment length polymorphism method.
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AA Sequence

MGAPRSLLLALAAGLAVARPPNIVLIFADDLGYGDLGCYGHPSSTTPNLDQLAAGGLRFTDFYVPVSLCT      1 - 70
PSRAALLTGRLPVRMGMYPGVLVPSSRGGLPLEEVTVAEVLAARGYLTGMAGKWHLGVGPEGAFLPPHQG     71 - 140
FHRFLGIPYSHDQGPCQNLTCFPPATPCDGGCDQGLVPIPLLANLSVEAQPPWLPGLEARYMAFAHDLMA    141 - 210
DAQRQDRPFFLYYASHHTHYPQFSGQSFAERSGRGPFGDSLMELDAAVGTLMTAIGDLGLLEETLVIFTA    211 - 280
DNGPETMRMSRGGCSGLLRCGKGTTYEGGVREPALAFWPGHIAPGVTHELASSLDLLPTLAALAGAPLPN    281 - 350
VTLDGFDLSPLLLGTGKSPRQSLFFYPSYPDEVRGVFAVRTGKYKAHFFTQGSAHSDTTADPACHASSSL    351 - 420
TAHEPPLLYDLSKDPGENYNLLGGVAGATPEVLQALKQLQLLKAQLDAAVTFGPSQVARGEDPALQICCH    421 - 490
PGCTPRPACCHCPDPHA                                                         491 - 507
//

Publication (126)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
25416956 2014 A proteome-scale map of the human interactome network.
25297594 2014 [Analysis of phenotype and genotype in a family with late infantile metachromatic leukodystrophy].
24989669 2014 Arylsulphatase A activity in familial parkinsonism: a pathogenetic role?
24816252 2014 An atlas of genetic influences on human blood metabolites.
24001781 2013 Sixteen novel mutations in the arylsulfatase A gene causing metachromatic leukodystrophy.
23969696 2013 Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease.
23689179 2013 Arylsulphatase A activity in human endometrial polyps inversely correlates with aging.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
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