ASNS asparagine synthetase (glutamine-hydrolyzing) [Homo sapiens (human)] - Gene

Summary

Official Symbol: ASNSprovided by HGNC
Official Full Name: asparagine synthetase (glutamine-hydrolyzing)provided by HGNC
Primary source: HGNC:HGNC:753
See related: Ensembl:ENSG00000070669 MIM:108370; AllianceGenome:HGNC:753
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: TS11; ASNSD
Summary: The protein encoded by this gene is involved in the synthesis of asparagine. This gene complements a mutation in the temperature-sensitive hamster mutant ts11, which blocks progression through the G1 phase of the cell cycle at nonpermissive temperature. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2010]
Expression: Ubiquitous expression in brain (RPKM 19.6), testis (RPKM 14.4) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7q21.3

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (97851677..97928441, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (99081731..99158507, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (97480989..97557753, complement)

Chromosome 7 - NC_000007.14 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?

Integrated Bioinformatics Analysis Identified ASNS and DDIT3 as the Therapeutic Target in Castrate-Resistant Prostate Cancer.
Title: Integrated Bioinformatics Analysis Identified ASNS and DDIT3 as the Therapeutic Target in Castrate-Resistant Prostate Cancer.
An endoplasmic reticulum stress-related signature featuring ASNS for predicting prognosis and immune landscape in prostate cancer.
Title: An endoplasmic reticulum stress-related signature featuring ASNS for predicting prognosis and immune landscape in prostate cancer.
An intractable epilepsy phenotype of ASNS novel mutation in two patients with asparagine synthetase deficiency.
Title: An intractable epilepsy phenotype of ASNS novel mutation in two patients with asparagine synthetase deficiency.
Asparagine synthetase regulates lung-cancer metastasis by stabilizing the beta-catenin complex and modulating mitochondrial response.
Title: Asparagine synthetase regulates lung-cancer metastasis by stabilizing the β-catenin complex and modulating mitochondrial response.
The edited UPF1 is correlated with elevated asparagine synthetase in pancreatic ductal adenocarcinomas.
Title: The edited UPF1 is correlated with elevated asparagine synthetase in pancreatic ductal adenocarcinomas.
Association of allele-specific methylation of the ASNS gene with asparaginase sensitivity and prognosis in T-ALL.
Title: Association of allele-specific methylation of the ASNS gene with asparaginase sensitivity and prognosis in T-ALL.
Dual blockade of macropinocytosis and asparagine bioavailability shows synergistic anti-tumor effects on KRAS-mutant colorectal cancer.
Title: Dual blockade of macropinocytosis and asparagine bioavailability shows synergistic anti-tumor effects on KRAS-mutant colorectal cancer.
Influence of genetic variants in asparaginase pathway on the susceptibility to asparaginase-related toxicity and patients' outcome in childhood acute lymphoblastic leukemia.
Title: Influence of genetic variants in asparaginase pathway on the susceptibility to asparaginase-related toxicity and patients' outcome in childhood acute lymphoblastic leukemia.
High Expression of Asparagine Synthetase Is Associated with Poor Prognosis of Breast Cancer in Chinese Population.
Title: High Expression of Asparagine Synthetase Is Associated with Poor Prognosis of Breast Cancer in Chinese Population.
Asparagine Synthetase Is Highly Expressed at Baseline in the Pancreas Through Heightened PERK Signaling.
Title: Asparagine Synthetase Is Highly Expressed at Baseline in the Pancreas Through Heightened PERK Signaling.

Submit: New GeneRIF Correction See all GeneRIFs (50)

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

Associated conditions

Description	Tests
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome MedGen: C3809971 OMIM: 615574 GeneReviews: Asparagine Synthetase Deficiency	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

ASNS (e-PCR)
- UniSTS:61194

RH79681 (e-PCR)
- UniSTS:90964

WI-20023 (e-PCR)
- UniSTS:31460

Readthrough CZ1P-ASNS

Readthrough gene: CZ1P-ASNS, Included gene: CCZ1P1

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables asparagine synthase (glutamine-hydrolyzing) activity	IBA Inferred from Biological aspect of Ancestor more info
enables asparagine synthase (glutamine-hydrolyzing) activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in L-asparagine biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in asparagine biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in asparagine biosynthetic process	IC Inferred by Curator more info	PubMed
acts_upstream_of_or_within asparagine biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to glucose starvation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of mitotic cell cycle	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info

General protein information

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Preferred Names: asparagine synthetase [glutamine-hydrolyzing]

Names: TS11 cell cycle control protein; glutamine-dependent asparagine synthetase

NP_001171546.1

EC 6.3.5.4

NP_001171547.1

EC 6.3.5.4

NP_001171548.1

EC 6.3.5.4

NP_001339425.1

EC 6.3.5.4

NP_001664.3

EC 6.3.5.4

NP_597680.2

EC 6.3.5.4

NP_899199.2

EC 6.3.5.4

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.

Genomic

NG_033870.2 RefSeqGene

Range

61155..81886

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001178075.2 → NP_001171546.1 asparagine synthetase [glutamine-hydrolyzing] isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (b) is shorter than isoform a.

Source sequence(s)

AA948141, AC005326, AK302189, BC014621

Consensus CDS

CCDS55132.1

UniProtKB/TrEMBL

B4DY32

Related

ENSP00000406994.1, ENST00000444334.5

Conserved Domains (3) summary

PRK09431
Location:2 → 534

asnB; asparagine synthetase B; Provisional

cd00712
Location:1 → 185

AsnB; Glutamine amidotransferases class-II (GATase) asparagine synthase_B type. Asparagine synthetase B catalyses the ATP-dependent conversion of aspartate to asparagine. This enzyme is a homodimer, with each monomer composed of a glutaminase domain and a ...

pfam00733
Location:214 → 511

Asn_synthase; Asparagine synthase
NM_001178076.2 → NP_001171547.1 asparagine synthetase [glutamine-hydrolyzing] isoform c

See identical proteins and their annotated locations for NP_001171547.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (c) is shorter than isoform a. Variants 5 and 6 encode the same isoform (c).

Source sequence(s)

AA948141, AC005326, BC014621, DA160359

Consensus CDS

CCDS55131.1

UniProtKB/TrEMBL

B4DY32

Related

ENSP00000408472.1, ENST00000455086.5

Conserved Domains (2) summary

pfam00733
Location:152 → 449

Asn_synthase; Asparagine synthase

cl00319
Location:8 → 123

Gn_AT_II; Glutamine amidotransferases class-II (GATase). The glutaminase domain catalyzes an amide nitrogen transfer from glutamine to the appropriate substrate. In this process, glutamine is hydrolyzed to glutamic acid and ammonia. This domain is related to ...
NM_001178077.1 → NP_001171548.1 asparagine synthetase [glutamine-hydrolyzing] isoform c

See identical proteins and their annotated locations for NP_001171548.1

Status: REVIEWED

Description

Transcript Variant: This variant (6) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (c) is shorter than isoform a. Variants 5 and 6 encode the same isoform (c).

Source sequence(s)

AA948141, BC014621, DB483248

Consensus CDS

CCDS55131.1

UniProtKB/TrEMBL

B4DY32

Related

ENSP00000414379.1, ENST00000437628.5

Conserved Domains (2) summary

pfam00733
Location:152 → 449

Asn_synthase; Asparagine synthase

cl00319
Location:8 → 123

Gn_AT_II; Glutamine amidotransferases class-II (GATase). The glutaminase domain catalyzes an amide nitrogen transfer from glutamine to the appropriate substrate. In this process, glutamine is hydrolyzed to glutamic acid and ammonia. This domain is related to ...
NM_001352496.2 → NP_001339425.1 asparagine synthetase [glutamine-hydrolyzing] isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (7) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, and 7 encode the same isoform (a).

Source sequence(s)

AC005326, DN993965

Consensus CDS

CCDS5652.1

UniProtKB/Swiss-Prot

A4D1I8, B4DXZ1, B7ZAA9, D6W5R3, E9PCI3, E9PCX6, P08184, P08243, Q15666, Q549T9, Q96HD0

UniProtKB/TrEMBL

B4DY32

Conserved Domains (1) summary

PRK09431
Location:1 → 555

asnB; asparagine synthetase B; Provisional
NM_001673.5 → NP_001664.3 asparagine synthetase [glutamine-hydrolyzing] isoform a

See identical proteins and their annotated locations for NP_001664.3

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, and 7 encode the same isoform (a).

Source sequence(s)

AA948141, AC005326, BC014621

Consensus CDS

CCDS5652.1

UniProtKB/Swiss-Prot

A4D1I8, B4DXZ1, B7ZAA9, D6W5R3, E9PCI3, E9PCX6, P08184, P08243, Q15666, Q549T9, Q96HD0

UniProtKB/TrEMBL

B4DY32

Related

ENSP00000377845.3, ENST00000394308.8

Conserved Domains (1) summary

PRK09431
Location:1 → 555

asnB; asparagine synthetase B; Provisional
NM_133436.3 → NP_597680.2 asparagine synthetase [glutamine-hydrolyzing] isoform a

See identical proteins and their annotated locations for NP_597680.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) is the longest variant. Variants 1, 2, 3, and 7 encode the same isoform (a).

Source sequence(s)

AA948141, BC014621, DA961373

Consensus CDS

CCDS5652.1

UniProtKB/Swiss-Prot

A4D1I8, B4DXZ1, B7ZAA9, D6W5R3, E9PCI3, E9PCX6, P08184, P08243, Q15666, Q549T9, Q96HD0

UniProtKB/TrEMBL

B4DY32

Related

ENSP00000377846.3, ENST00000394309.7

Conserved Domains (1) summary

PRK09431
Location:1 → 555

asnB; asparagine synthetase B; Provisional
NM_183356.4 → NP_899199.2 asparagine synthetase [glutamine-hydrolyzing] isoform a

See identical proteins and their annotated locations for NP_899199.2

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, and 7 encode the same isoform (a).

Source sequence(s)

AA948141, AC005326, BC014621, DA160359

Consensus CDS

CCDS5652.1

UniProtKB/Swiss-Prot

A4D1I8, B4DXZ1, B7ZAA9, D6W5R3, E9PCI3, E9PCX6, P08184, P08243, Q15666, Q549T9, Q96HD0

UniProtKB/TrEMBL

B4DY32

Related

ENSP00000175506.4, ENST00000175506.8

Conserved Domains (1) summary

PRK09431
Location:1 → 555

asnB; asparagine synthetase B; Provisional