ASRGL1 Gene (Protein Coding)

Asparaginase And Isoaspartyl Peptidase 1

GC11P062337
GIFtS:
43
See more...

Aliases for ASRGL1 Gene

Aliases for ASRGL1 Gene

  • Asparaginase And Isoaspartyl Peptidase 1 2 3 5
  • ALP 2 3 4
  • Isoaspartyl Peptidase/L-Asparaginase 3 4
  • Asparaginase-Like 1 Protein 2 3
  • L-Asparagine Amidohydrolase 3 4
  • Asparaginase-Like Protein 1 3 4
  • Beta-Aspartyl-Peptidase 3 4
  • Isoaspartyl Dipeptidase 3 4
  • Asparaginase Like 1 2 3
  • EC 3.5.1.1 4 51
  • CRASH 3 4
  • ALP1 2 3
  • Testis Secretory Sperm-Binding Protein Li 242mP 3
  • L-Asparaginase 3
  • EC 3.4.19.5 4
  • FLJ22316 2
  • ASRGL1 5

External Ids for ASRGL1 Gene

Previous GeneCards Identifiers for ASRGL1 Gene

  • GC00U991098
  • GC11P063680
  • GC11P062355
  • GC11P061880
  • GC11P061861
  • GC11P062104
  • GC11P058433

Summaries for ASRGL1 Gene

GeneCards Summary for ASRGL1 Gene

ASRGL1 (Asparaginase And Isoaspartyl Peptidase 1) is a Protein Coding gene. Diseases associated with ASRGL1 include Aspartylglucosaminuria and Immunodeficiency 48. Among its related pathways are Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism and Viral mRNA Translation. Gene Ontology (GO) annotations related to this gene include hydrolase activity and asparaginase activity. An important paralog of this gene is TASP1.

UniProtKB/Swiss-Prot Summary for ASRGL1 Gene

  • Has both L-asparaginase and beta-aspartyl peptidase activity. May be involved in the production of L-aspartate, which can act as an excitatory neurotransmitter in some brain regions. Is highly active with L-Asp beta-methyl ester. Besides, has catalytic activity toward beta-aspartyl dipeptides and their methyl esters, including beta-L-Asp-L-Phe, beta-L-Asp-L-Phe methyl ester (aspartame), beta-L-Asp-L-Ala, beta-L-Asp-L-Leu and beta-L-Asp-L-Lys. Does not have aspartylglucosaminidase activity and is inactive toward GlcNAc-L-Asn. Likewise, has no activity toward glutamine.

Gene Wiki entry for ASRGL1 Gene

Additional gene information for ASRGL1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ASRGL1 Gene

Genomics for ASRGL1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for ASRGL1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH11J062336 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 273.4 +0.4 371 2 MNT ZIC2 ZNF610 THAP11 SIN3A ZNF395 REST MAX SAP130 GABPA ASRGL1 ENSG00000255118 SCGB1A1
GH11J062423 Promoter/Enhancer 1.5 Ensembl ENCODE dbSUPER 22.4 +91.2 91240 11.1 MXD4 BCL11A CEBPA DEK IKZF1 ZNF217 CTCF ZIC2 THAP11 CEBPB ENSG00000255446 LOC102723765 ASRGL1 SCGB1A1 ENSG00000255126 ENSG00000250659 ENSG00000257058 AHNAK EEF1G ENSG00000255508
GH11J062394 Enhancer 1.6 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 18.9 +61.4 61434 8.8 TBP MNT DEK IKZF1 HES1 MBD2 ZNF217 CTCF BHLHE40 NONO NXF1 CPSF7 CSKMT ASRGL1 GANAB SNHG1 EML3 RN7SL23P INTS5 STX5
GH11J062339 Promoter/Enhancer 1.1 Ensembl ENCODE 23.4 +2.7 2661 1.7 FEZF1 CEBPA CTCF KDM6A SIN3A REST FOXA2 TRIM22 SAP130 ZNF341 ASRGL1 ENSG00000255118 piR-30876-023 SCGB1A1
GH11J062369 Enhancer 1.1 Ensembl ENCODE 24.1 +31.3 31263 1.8 MNT IKZF1 HES1 MBD2 NONO ARNT ZNF395 VEZF1 NBN MAFF piR-36887-007 ASRGL1 MTA2 CPSF7 LBHD1 HSALNG0084597 SCGB1A1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ASRGL1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ASRGL1

Top Transcription factor binding sites by QIAGEN in the ASRGL1 gene promoter:
  • HSF1short
  • STAT1
  • STAT1alpha
  • STAT1beta
  • STAT2
  • STAT3
  • STAT4
  • STAT5A
  • STAT5B
  • STAT6

Genomic Locations for ASRGL1 Gene

Latest Assembly
chr11:62,337,430-62,401,401
(GRCh38/hg38)
Size:
63,972 bases
Orientation:
Plus strand

Previous Assembly
chr11:62,104,920-62,160,884
(GRCh37/hg19 by Entrez Gene)
Size:
55,965 bases
Orientation:
Plus strand

chr11:62,104,920-62,160,882
(GRCh37/hg19 by Ensembl)
Size:
55,963 bases
Orientation:
Plus strand

Genomic View for ASRGL1 Gene

Genes around ASRGL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ASRGL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ASRGL1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ASRGL1 Gene

Proteins for ASRGL1 Gene

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  • Protein details for ASRGL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7L266-ASGL1_HUMAN
    Recommended name:
    Isoaspartyl peptidase/L-asparaginase
    Protein Accession:
    Q7L266
    Secondary Accessions:
    • B2R7Q0
    • Q567Q4
    • Q6P1P0
    • Q8NI34
    • Q9H6F7

    Protein attributes for ASRGL1 Gene

    Size:
    308 amino acids
    Molecular mass:
    32055 Da
    Quaternary structure:
    • Heterodimer of an alpha and beta chain produced by autocleavage. This heterodimer may then dimerize in turn, giving rise to a heterotetramer.
    SequenceCaution:
    • Sequence=BAB15302.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB15302.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ASRGL1 Gene

    Alternative splice isoforms for ASRGL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ASRGL1 Gene

Protein Expression for ASRGL1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for ASRGL1 Gene

Q7L266:
  • STTGHGESILKVNLARL
  • NKMVGRVGD

Post-translational modifications for ASRGL1 Gene

  • Cleaved into an alpha and beta chain by autocatalysis; this activates the enzyme. The N-terminal residue of the beta subunit is responsible for the nucleophile hydrolase activity.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ASRGL1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for ASRGL1
  • Boster Bio Antibodies for ASRGL1

Domains & Families for ASRGL1 Gene

Gene Families for ASRGL1 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for ASRGL1 Gene

InterPro:
Blocks:
  • Asparaginase 2 family
ProtoNet:

Suggested Antigen Peptide Sequences for ASRGL1 Gene

GenScript: Design optimal peptide antigens:
  • L-asparagine amidohydrolase (ASGL1_HUMAN)
  • cDNA FLJ60034, moderately similar to Homo sapiens asparaginase like 1 (ASRGL1), mRNA (B4DLU4_HUMAN)
  • ASRGL1 protein (Q9BRH2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q7L266

UniProtKB/Swiss-Prot:

ASGL1_HUMAN :
  • Belongs to the Ntn-hydrolase family.
Family:
  • Belongs to the Ntn-hydrolase family.
genes like me logo Genes that share domains with ASRGL1: view

Function for ASRGL1 Gene

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  6. Cell Lines for research

Molecular function for ASRGL1 Gene

UniProtKB/Swiss-Prot Function:
Has both L-asparaginase and beta-aspartyl peptidase activity. May be involved in the production of L-aspartate, which can act as an excitatory neurotransmitter in some brain regions. Is highly active with L-Asp beta-methyl ester. Besides, has catalytic activity toward beta-aspartyl dipeptides and their methyl esters, including beta-L-Asp-L-Phe, beta-L-Asp-L-Phe methyl ester (aspartame), beta-L-Asp-L-Ala, beta-L-Asp-L-Leu and beta-L-Asp-L-Lys. Does not have aspartylglucosaminidase activity and is inactive toward GlcNAc-L-Asn. Likewise, has no activity toward glutamine.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + L-asparagine = L-aspartate + NH4(+); Xref=Rhea:RHEA:21016, ChEBI:CHEBI:15377, ChEBI:CHEBI:28938, ChEBI:CHEBI:29991, ChEBI:CHEBI:58048; EC=3.5.1.1; Evidence={ECO:0000269|PubMed:19839645, ECO:0000269|PubMed:22891768, ECO:0000269|PubMed:27106100};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Cleavage of a beta-linked Asp residue from the N-terminus of a polypeptide.; EC=3.4.19.5; Evidence={ECO:0000269|PubMed:19839645};.
UniProtKB/Swiss-Prot Induction:
By 5-alpha-di-hydrotestosterone and progesterone.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=3.4 mM for L-asparagine (L-Asn) {ECO:0000269|PubMed:19839645}; KM=0.4 mM for L-aspartic acid beta-methyl ester {ECO:0000269|PubMed:19839645}; KM=0.4 mM for L-Asp-L-Phe {ECO:0000269|PubMed:19839645}; KM=1.0 mM for L-Asp-L-Ala {ECO:0000269|PubMed:19839645}; KM=0.1 mM for L-aspartic acid beta-hydroxamate {ECO:0000269|PubMed:27106100};
UniProtKB/Swiss-Prot EnzymeRegulation:
Glycine accelerates autocleavage into an alpha and beta chain.

Enzyme Numbers (IUBMB) for ASRGL1 Gene

Phenotypes From GWAS Catalog for ASRGL1 Gene

Gene Ontology (GO) - Molecular Function for ASRGL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003948 NOT N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity IDA 19839645
GO:0004067 asparaginase activity IBA,IMP 27106100
GO:0008233 peptidase activity IEA --
GO:0008798 beta-aspartyl-peptidase activity IBA,IDA 19839645
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with ASRGL1: view
genes like me logo Genes that share phenotypes with ASRGL1: view

Animal Models for research

  • Taconic Biosciences Mouse Models for ASRGL1

miRNA for ASRGL1 Gene

miRTarBase miRNAs that target ASRGL1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ASRGL1

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ASRGL1 Gene

Localization for ASRGL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ASRGL1 Gene

Cytoplasm. Note=Midpiece of sperm tail.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ASRGL1 gene
Compartment Confidence
nucleus 5
cytosol 4
cytoskeleton 3
mitochondrion 2
plasma membrane 1
extracellular 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytokinetic bridge (2)
  • Microtubules (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ASRGL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001917 photoreceptor inner segment ISS --
GO:0005634 nucleus HDA 21630459
GO:0005737 cytoplasm IBA,ISS --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with ASRGL1: view

Pathways & Interactions for ASRGL1 Gene

genes like me logo Genes that share pathways with ASRGL1: view

Gene Ontology (GO) - Biological Process for ASRGL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0006559 L-phenylalanine catabolic process TAS --
GO:0033345 asparagine catabolic process via L-aspartate IBA,ISS --
genes like me logo Genes that share ontologies with ASRGL1: view

No data available for SIGNOR curated interactions for ASRGL1 Gene

Drugs & Compounds for ASRGL1 Gene

Products:

  1. Drug products for research

(5) Drugs for ASRGL1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Asparagine Approved, Investigational Nutra Target, substrate 38
Aspartic acid Approved Nutra Target 193
Ammonia Approved Pharma 0
Water Approved Pharma 0

(3) Additional Compounds for ASRGL1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ASRGL1: view

Transcripts for ASRGL1 Gene

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mRNA/cDNA for ASRGL1 Gene

2 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ASRGL1

Alternative Splicing Database (ASD) splice patterns (SP) for ASRGL1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c · 2d ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b
SP1: - - - -
SP2: - - - - -
SP3: - - - - - -
SP4: - - -
SP5: - - - -
SP6: -
SP7: -
SP8:

Relevant External Links for ASRGL1 Gene

GeneLoc Exon Structure for
ASRGL1

Expression for ASRGL1 Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ASRGL1 Gene

mRNA expression in normal human tissues for ASRGL1 Gene
mRNA expression by BioGPS for ASRGL1 GenemRNA expression by GTEx for ASRGL1 Gene

mRNA differential expression in normal tissues according to GTEx for ASRGL1 Gene

This gene is overexpressed in Brain - Putamen (basal ganglia) (x4.4).

Protein differential expression in normal tissues from HIPED for ASRGL1 Gene

This gene is overexpressed in Liver (25.2) and Ovary (18.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ASRGL1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ASRGL1

SOURCE GeneReport for Unigene cluster for ASRGL1 Gene:

Hs.535326

mRNA Expression by UniProt/SwissProt for ASRGL1 Gene:

Q7L266-ASGL1_HUMAN
Tissue specificity: Expressed in brain, kidney, testis and tissues of the gastrointestinal tract. Present in sperm (at protein level). Over-expressed in uterine, mammary, prostatic and ovarian carcinoma.

Evidence on tissue expression from TISSUES for ASRGL1 Gene

  • Nervous system(4.9)
  • Eye(4.2)
  • Lung(4.2)
  • Skin(4.2)
genes like me logo Genes that share expression patterns with ASRGL1: view

Primer products for research

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for ASRGL1 Gene

Orthologs for ASRGL1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ASRGL1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia ASRGL1 30 31
  • 99.24 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia ASRGL1 30 31
  • 83.23 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia ASRGL1 30 31
  • 82.3 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Asrgl1 30 17 31
  • 79.56 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Asrgl1 30
  • 78.58 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia ASRGL1 31
  • 68 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia ASRGL1 31
  • 55 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves ASRGL1 30 31
  • 67.34 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia ASRGL1 31
  • 63 (a)
 OneToOne
Zebrafish
(Danio rerio)
 Actinopterygii asrgl1 30 31
  • 61.24 (n)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta CG7860 31
  • 39 (a)
 OneToOne
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons AT3G16150 30
  • 49.6 (n)
Alicante grape
(Vitis vinifera)
 eudicotyledons Vvi.6054 30
Species where no ortholog for ASRGL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for ASRGL1 Gene

ENSEMBL:
Gene Tree for ASRGL1 (if available)
TreeFam:
Gene Tree for ASRGL1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ASRGL1: view image

Paralogs for ASRGL1 Gene

Paralogs for ASRGL1 Gene

(1) SIMAP similar genes for ASRGL1 Gene using alignment to 4 proteins:

  • ASGL1_HUMAN
  • B4DLU4_HUMAN
  • E9PJK6_HUMAN
  • Q9BRH2_HUMAN
genes like me logo Genes that share paralogs with ASRGL1: view

Variants for ASRGL1 Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ASRGL1 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
839389 Uncertain Significance: not provided 62,337,990(+) G/A
NM_001083926.2(ASRGL1):c.13G>A (p.Val5Ile) 		MISSENSE
839509 Uncertain Significance: not provided 62,338,008(+) G/A
NM_001083926.2(ASRGL1):c.31G>A (p.Gly11Arg) 		MISSENSE
842431 Uncertain Significance: not provided 62,356,325(+) G/A
NM_001083926.2(ASRGL1):c.191G>A (p.Gly64Asp) 		MISSENSE
851013 Uncertain Significance: not provided 62,389,230(+) G/A
NM_001083926.2(ASRGL1):c.589G>A (p.Val197Ile) 		MISSENSE
853054 Uncertain Significance: not provided 62,356,344(+) C/A
NM_001083926.2(ASRGL1):c.210C>A (p.Asn70Lys) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ASRGL1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ASRGL1 Gene

Variant ID Type Subtype PubMed ID
dgv202e214 CNV loss 21293372
dgv218e199 CNV deletion 23128226
esv1580794 CNV insertion 17803354
esv3408585 CNV insertion 20981092
esv3626599 CNV gain 21293372
esv3626600 CNV gain 21293372
esv3626603 CNV gain 21293372
esv3626604 CNV loss 21293372
nsv1039105 CNV gain 25217958
nsv1053587 CNV gain 25217958
nsv468586 CNV loss 19166990
nsv516460 CNV gain 19592680
nsv555172 CNV loss 21841781
nsv555173 CNV loss 21841781
nsv983031 CNV duplication 23825009

Variation tolerance for ASRGL1 Gene

Residual Variation Intolerance Score: 47.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.20; 24.18% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ASRGL1 Gene

Human Gene Mutation Database (HGMD)
ASRGL1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ASRGL1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ASRGL1 Gene

Disorders for ASRGL1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ASRGL1 Gene - From: COP

Disorder Aliases PubMed IDs
aspartylglucosaminuria
  • agu
immunodeficiency 48
  • imd48
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ASRGL1

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with ASRGL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ASRGL1 Gene

Publications for ASRGL1 Gene

  1. A novel asparaginase-like protein is a sperm autoantigen in rats. (PMID: 11984834) Bush LA … Flickinger CJ (Molecular reproduction and development 2002) 2 3 4 23
  2. A missense mutation in ASRGL1 is involved in causing autosomal recessive retinal degeneration. (PMID: 27106100) Biswas P … Ayyagari R (Human molecular genetics 2016) 2 3 4
  3. The human asparaginase-like protein 1 hASRGL1 is an Ntn hydrolase with beta-aspartyl peptidase activity. (PMID: 19839645) Cantor JR … Georgiou G (Biochemistry 2009) 3 4 23
  4. Extracellular vesicles are independent metabolic units with asparaginase activity. (PMID: 28671681) Iraci N … Pluchino S (Nature chemical biology 2017) 2 3
  5. Uncoupling intramolecular processing and substrate hydrolysis in the N-terminal nucleophile hydrolase hASRGL1 by circular permutation. (PMID: 22891768) Li W … Zhang Y (ACS chemical biology 2012) 3 4

ExternalLinks

View latest publications for ASRGL1 gene in Mastermind

Products for ASRGL1 Gene

Sources for ASRGL1 Gene