ASRGL1 asparaginase and isoaspartyl peptidase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ASRGL1provided by HGNC
Official Full Name: asparaginase and isoaspartyl peptidase 1provided by HGNC
Primary source: HGNC:HGNC:16448
See related: Ensembl:ENSG00000162174 MIM:609212; AllianceGenome:HGNC:16448
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ALP; ALP1; CRASH
Summary: Enables asparaginase activity and beta-aspartyl-peptidase activity. Involved in asparagine catabolic process via L-aspartate. Located in cytoplasm. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in testis (RPKM 38.7), kidney (RPKM 13.5) and 10 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q12.3

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (62337448..62401431)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (62326729..62390808)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (62104920..62160884)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TDP-43 proteinopathy in ALS is triggered by loss of ASRGL1 and associated with HML-2 expression.
Title: TDP-43 proteinopathy in ALS is triggered by loss of ASRGL1 and associated with HML-2 expression.
ASRGL1 downregulation suppresses hepatocellular carcinoma tumorigenesis in a CDK1-dependent manner.
Title: ASRGL1 downregulation suppresses hepatocellular carcinoma tumorigenesis in a CDK1-dependent manner.
l-Asparaginase regulates mTORC1 activity via a TSC2-dependent pathway in pancreatic beta cells.
Title: l-Asparaginase regulates mTORC1 activity via a TSC2-dependent pathway in pancreatic beta cells.
The role of the quaternary structure in the activation of human L-asparaginase.
Title: The role of the quaternary structure in the activation of human L-asparaginase.
The strongest associations between protein abundance and Alzheimer's disease severity were found for APLP1, CNTN2 and SPP1 proteins The best discrimination between mild cognitive impairment vs. controls was observed with a model combining APLP1 and SPP1 proteins.
Title: Brain-related proteins as potential CSF biomarkers of Alzheimer's disease: A targeted mass spectrometry approach.
ASRGL1 was closely associated with growth and apoptosis in cervical cancer. Therefore, ASRGL1 may be a novel, potentially effective anticervical cancer therapy.
Title: RNAi‑mediated downregulation of asparaginase‑like protein 1 inhibits growth and promotes apoptosis of human cervical cancer line SiHa.
A panel including p53 and ASRGL1 immunohistochemistry was identified as the most accurate predictor of relapse-free and disease-specific survival. Within this panel, patients were allocated into high- (5.9%), intermediate- (29.5%) and low- (64.6%) risk groups where high-risk patients had a 30-fold risk (P<0.001) of dying of EEC compared to the low-risk group.
Title: Combined ASRGL1 and p53 immunohistochemistry as an independent predictor of survival in endometrioid endometrial carcinoma.
In a prospective setting ASRGL1 validates as a strong prognostic biomarker in endometrial carcinoma. Loss of ASRGL1 is associated with aggressive disease and poor survival.
Title: Asparaginase-like protein 1 is an independent prognostic marker in primary endometrial cancer, and is frequently lost in metastatic lesions.
Our studies suggest that the p.G178R mutation in ASRGL1 leads to photoreceptor degeneration resulting in progressive vision loss.
Title: A missense mutation in ASRGL1 is involved in causing autosomal recessive retinal degeneration.
Multiple negatively charged small molecules interact within the active site of ASRGL1 to act as a base in promoting cleavage.
Title: Intramolecular Cleavage of the hASRGL1 Homodimer Occurs in Two Stages.

Submit: New GeneRIF Correction See all GeneRIFs (15)

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

EBI GWAS Catalog

Description
Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope transmembrane glycoprotein gp41	env	A synthetic peptide corresponding to the immunosuppressive domain (amino acids 574-592) of HIV-1 gp41 downregulates the expression of asparaginase like 1 (ASRGL1) in peptide-treated PBMCs	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
NOT enables N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity	IDA Inferred from Direct Assay more info	PubMed
enables asparaginase activity	IDA Inferred from Direct Assay more info	PubMed
enables asparaginase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables beta-aspartyl-peptidase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in asparagine catabolic process via L-aspartate	IBA Inferred from Biological aspect of Ancestor more info
involved_in asparagine catabolic process via L-aspartate	IDA Inferred from Direct Assay more info	PubMed
involved_in asparagine catabolic process via L-aspartate	ISS Inferred from Sequence or Structural Similarity more info
involved_in proteolysis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	TAS Traceable Author Statement more info
located_in nucleus	HDA more info	PubMed
located_in photoreceptor inner segment	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: isoaspartyl peptidase/L-asparaginase

Names: L-asparaginase; L-asparagine amidohydrolase; asparaginase like 1; asparaginase-like 1 protein; asparaginase-like protein 1; beta-aspartyl-peptidase; isoaspartyl dipeptidase; testis secretory sperm-binding protein Li 242mP

NP_001077395.1

EC 3.4.19.5

EC 3.5.1.1

NP_079356.3

EC 3.4.19.5

EC 3.5.1.1

XP_011543567.1

EC 3.4.19.5

EC 3.5.1.1

XP_011543568.1

EC 3.4.19.5

EC 3.5.1.1

XP_047283587.1

EC 3.4.19.5

EC 3.5.1.1

XP_047283588.1

EC 3.4.19.5

EC 3.5.1.1

XP_054226000.1

EC 3.4.19.5

EC 3.5.1.1

XP_054226001.1

EC 3.4.19.5

EC 3.5.1.1

XP_054226002.1

EC 3.4.19.5

EC 3.5.1.1

XP_054226003.1

EC 3.4.19.5

EC 3.5.1.1

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.

mRNA and Protein(s)

NM_001083926.2 → NP_001077395.1 isoaspartyl peptidase/L-asparaginase

See identical proteins and their annotated locations for NP_001077395.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AP003064, BC093070, DA159051, DT220454

Consensus CDS

CCDS8019.1

UniProtKB/Swiss-Prot

B2R7Q0, Q567Q4, Q6P1P0, Q7L266, Q8NI34, Q9H6F7

UniProtKB/TrEMBL

A0A024R573, B3KR33

Related

ENSP00000400057.2, ENST00000415229.6

Conserved Domains (2) summary

PRK10226
Location:1 → 290

PRK10226; isoaspartyl peptidase; Provisional

cd04702
Location:2 → 291

ASRGL1_like; Metazoan L-Asparaginase type 2
NM_025080.4 → NP_079356.3 isoaspartyl peptidase/L-asparaginase

See identical proteins and their annotated locations for NP_079356.3

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AP003064, BC021295, BP308677, DT220454

Consensus CDS

CCDS8019.1

UniProtKB/Swiss-Prot

B2R7Q0, Q567Q4, Q6P1P0, Q7L266, Q8NI34, Q9H6F7

UniProtKB/TrEMBL

A0A024R573, B3KR33

Related

ENSP00000301776.5, ENST00000301776.9

Conserved Domains (2) summary

PRK10226
Location:1 → 290

PRK10226; isoaspartyl peptidase; Provisional

cd04702
Location:2 → 291

ASRGL1_like; Metazoan L-Asparaginase type 2

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

62337448..62401431

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011545265.4 → XP_011543567.1 isoaspartyl peptidase/L-asparaginase isoform X1

Conserved Domains (1) summary

cd04702
Location:2 → 203

ASRGL1_like; Metazoan L-Asparaginase type 2
XM_047427631.1 → XP_047283587.1 isoaspartyl peptidase/L-asparaginase isoform X2
XM_047427632.1 → XP_047283588.1 isoaspartyl peptidase/L-asparaginase isoform X3

UniProtKB/TrEMBL

A0A087WUG3
XM_011545266.4 → XP_011543568.1 isoaspartyl peptidase/L-asparaginase isoform X3

UniProtKB/TrEMBL

A0A087WUG3

Related

ENSP00000478649.1, ENST00000534571.5

Conserved Domains (1) summary

cl00635
Location:2 → 183

Ntn_Asparaginase_2_like; L-Asparaginase type 2-like enzymes of the NTN-hydrolase superfamily

Alternate T2T-CHM13v2.0

Genomic

NC_060935.1 Alternate T2T-CHM13v2.0

Range

62326729..62390808

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054370025.1 → XP_054226000.1 isoaspartyl peptidase/L-asparaginase isoform X1
XM_054370026.1 → XP_054226001.1 isoaspartyl peptidase/L-asparaginase isoform X2
XM_054370028.1 → XP_054226003.1 isoaspartyl peptidase/L-asparaginase isoform X3

UniProtKB/TrEMBL

A0A087WUG3
XM_054370027.1 → XP_054226002.1 isoaspartyl peptidase/L-asparaginase isoform X3

UniProtKB/TrEMBL

A0A087WUG3