ASS1 argininosuccinate synthase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ASS1provided by HGNC
Official Full Name: argininosuccinate synthase 1provided by HGNC
Primary source: HGNC:HGNC:758
See related: Ensembl:ENSG00000130707 MIM:603470; AllianceGenome:HGNC:758
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: ASS; CTLN1
Summary: The protein encoded by this gene catalyzes the penultimate step of the arginine biosynthetic pathway. There are approximately 10 to 14 copies of this gene including the pseudogenes scattered across the human genome, among which the one located on chromosome 9 appears to be the only functional gene for argininosuccinate synthetase. Mutations in the chromosome 9 copy of this gene cause citrullinemia. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2012]
Expression: Biased expression in kidney (RPKM 573.0), liver (RPKM 443.3) and 9 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q34.11

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (130444707..130501274)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (142649688..142706251)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (133320094..133376661)

Chromosome 9 - NC_000009.12 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

[Clinical and ASS1 gene variant analysis of three Chinese pedigrees affected with Citrullinemia type I].
Title: [Clinical and ASS1 gene variant analysis of three Chinese pedigrees affected with Citrullinemia type I].
Polymorphic Variants of ASS1 Gene Related to Arginine Metabolism and the Risk of HCC.
Title: Polymorphic Variants of ASS1 Gene Related to Arginine Metabolism and the Risk of HCC.
Analysis of ASS1 gene in ten unrelated middle eastern families with citrullinemia type 1 identifies rare and novel variants.
Title: Analysis of ASS1 gene in ten unrelated middle eastern families with citrullinemia type 1 identifies rare and novel variants.
BAP1 Loss Is Associated with Higher ASS1 Expression in Epithelioid Mesothelioma: Implications for Therapeutic Stratification.
Title: BAP1 Loss Is Associated with Higher ASS1 Expression in Epithelioid Mesothelioma: Implications for Therapeutic Stratification.
Downregulation of argininosuccinate synthase 1 (ASS1) is associated with hypoxia in placental development.
Title: Downregulation of argininosuccinate synthase 1 (ASS1) is associated with hypoxia in placental development.
Serum extracellular vesicle-derived ASS1 is a promising predictor for the occurrence of HEV-ALF.
Title: Serum extracellular vesicle-derived ASS1 is a promising predictor for the occurrence of HEV-ALF.
PGAM1 regulation of ASS1 contributes to the progression of breast cancer through the cAMP/AMPK/CEBPB pathway.
Title: PGAM1 regulation of ASS1 contributes to the progression of breast cancer through the cAMP/AMPK/CEBPB pathway.
Variants associated with urea cycle disorders in Japanese patients: Nationwide study and literature review.
Title: Variants associated with urea cycle disorders in Japanese patients: Nationwide study and literature review.
Therapeutic targeting of argininosuccinate synthase 1 (ASS1)-deficient pulmonary fibrosis.
Title: Therapeutic targeting of argininosuccinate synthase 1 (ASS1)-deficient pulmonary fibrosis.
Argininosuccinate synthase 1 suppresses tumor progression through activation of PERK/eIF2alpha/ATF4/CHOP axis in hepatocellular carcinoma.
Title: Argininosuccinate synthase 1 suppresses tumor progression through activation of PERK/eIF2α/ATF4/CHOP axis in hepatocellular carcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (76)

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
Citrullinemia type I MedGen: C4721769 OMIM: 215700 GeneReviews: Urea Cycle Disorders Overview, Citrullinemia Type I	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

D9S1956 (e-PCR)
- UniSTS:81426

G43543 (e-PCR)
- UniSTS:94998

D9S1861 (e-PCR)
- UniSTS:46373

L00083 (e-PCR)
- UniSTS:53806

RH91535 (e-PCR)
- UniSTS:84287

SHGC-152551 (e-PCR)
- UniSTS:182888

SHGC-151267 (e-PCR)
- UniSTS:173681

Ass1 (e-PCR), detects polymorphism
- UniSTS:506742

D12S1933 (e-PCR)
- UniSTS:9116

D9S2057 (e-PCR)
- UniSTS:46005

GDB:629967 (e-PCR)
- UniSTS:158412

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables RNA binding	HDA more info	PubMed
enables amino acid binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables argininosuccinate synthase activity	IBA Inferred from Biological aspect of Ancestor more info
enables argininosuccinate synthase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables toxic substance binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in L-arginine biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in L-arginine biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in L-arginine biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in acute-phase response	IEA Inferred from Electronic Annotation more info
involved_in argininosuccinate metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in argininosuccinate metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in aspartate metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to amine stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to amino acid stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to ammonium ion	IEA Inferred from Electronic Annotation more info
involved_in cellular response to cAMP	IEA Inferred from Electronic Annotation more info
involved_in cellular response to dexamethasone stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to glucagon stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to laminar fluid shear stress	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to lipopolysaccharide	IEA Inferred from Electronic Annotation more info
involved_in cellular response to oleic acid	IEA Inferred from Electronic Annotation more info
involved_in cellular response to tumor necrosis factor	IEA Inferred from Electronic Annotation more info
involved_in cellular response to type II interferon	IEA Inferred from Electronic Annotation more info
involved_in circadian rhythm	IDA Inferred from Direct Assay more info	PubMed
involved_in citrulline metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in diaphragm development	IEA Inferred from Electronic Annotation more info
involved_in kidney development	IEA Inferred from Electronic Annotation more info
involved_in liver development	IEA Inferred from Electronic Annotation more info
involved_in midgut development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of leukocyte cell-cell adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of nitric oxide biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to estradiol	IEA Inferred from Electronic Annotation more info
involved_in response to growth hormone	IEA Inferred from Electronic Annotation more info
involved_in response to mycotoxin	IEA Inferred from Electronic Annotation more info
involved_in response to nutrient	IEA Inferred from Electronic Annotation more info
involved_in response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info
involved_in response to zinc ion	IEA Inferred from Electronic Annotation more info
involved_in urea cycle	IBA Inferred from Biological aspect of Ancestor more info
involved_in urea cycle	IEA Inferred from Electronic Annotation more info
involved_in urea cycle	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cell body fiber	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in mitochondrial outer membrane	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in perikaryon	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: argininosuccinate synthase

Names: argininosuccinate synthetase 1; citrulline-aspartate ligase; epididymis secretory sperm binding protein

NP_000041.2

EC 6.3.4.5

NP_446464.1

EC 6.3.4.5

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_011542.1 RefSeqGene

Range

5255..61568

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000050.4 → NP_000041.2 argininosuccinate synthase

See identical proteins and their annotated locations for NP_000041.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer variant.

Source sequence(s)

AL354898, BC013224, DB496935

Consensus CDS

CCDS6933.1

UniProtKB/Swiss-Prot

P00966, Q6LDL2, Q86UZ0, Q96GT4

UniProtKB/TrEMBL

A8KAP9, Q5T6L4

Related

ENSP00000361469.2, ENST00000372393.7

Conserved Domains (1) summary

pfam00764
Location:8 → 401

Arginosuc_synth; Arginosuccinate synthase
NM_054012.4 → NP_446464.1 argininosuccinate synthase

See identical proteins and their annotated locations for NP_446464.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an exon in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.

Source sequence(s)

BC013224, DB496935

Consensus CDS

CCDS6933.1

UniProtKB/Swiss-Prot

P00966, Q6LDL2, Q86UZ0, Q96GT4

UniProtKB/TrEMBL

A8KAP9, Q5T6L4

Related

ENSP00000253004.6, ENST00000352480.10

Conserved Domains (1) summary

pfam00764
Location:8 → 401

Arginosuc_synth; Arginosuccinate synthase