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ASS1

GENERAL INFORMATION

Gene name

 ASS1

Gene description

 Argininosuccinate synthase 1

Protein class

 Disease related genes
Enzymes
Plasma proteins
Potential drug targets
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 5
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Tissue enhanced (kidney, liver)
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic expression in several tissues including kidney, liver and urinary bladder.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Supported based on 2 antibodies.
HPA020896 , HPA020934
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Urinary bladder

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (kidney, liver)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 ASS1 (HGNC Symbol)

Synonyms

 ASS, CTLN1

Description

 Argininosuccinate synthase 1 (HGNC Symbol)

Entrez gene 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]

Chromosome

 9

Cytoband

 q34.11

Chromosome location (bp)

 130444929 - 130501274

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000130707 (version 83.38)

Entrez gene

 445

UniProt

 P00966 (UniProt - Evidence at protein level)

neXtProt

 NX_P00966

Antibodypedia

 ASS1 antibodies

PROTEIN BROWSER
ASS1-002
ASS1-003
ASS1-004
ASS1-005
ASS1-010

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
ASS1-002
ENSP00000253004
ENST00000352480
P00966 [Direct mapping]
Argininosuccinate synthase
Q5T6L4 [Target identity:100%; Query identity:100%]
Argininosuccinate synthetase, isoform CRA_a; cDNA, FLJ96050, highly similar to Homo sapiens argininosuccinate synthetase (ASS), transcript variant1, mRNA
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Enzymes
   ENZYME proteins
   Ligase
Predicted intracellular proteins
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000050 [urea cycle]
GO:0000052 [citrulline metabolic process]
GO:0000053 [argininosuccinate metabolic process]
GO:0004055 [argininosuccinate synthase activity]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0006526 [arginine biosynthetic process]
GO:0006531 [aspartate metabolic process]
GO:0006595 [polyamine metabolic process]
GO:0016597 [amino acid binding]
GO:0034641 [cellular nitrogen compound metabolic process]
GO:0042802 [identical protein binding]
GO:0044281 [small molecule metabolic process]
GO:0044822 [poly(A) RNA binding]
GO:0045429 [positive regulation of nitric oxide biosynthetic process]
GO:0070062 [extracellular exosome]
GO:0071499 [cellular response to laminar fluid shear stress]
GO:1903038 [negative regulation of leukocyte cell-cell adhesion]
Show all
 412 aa
46.5 kDa 		No 0
ASS1-003
ENSP00000361469
ENST00000372393
P00966 [Direct mapping]
Argininosuccinate synthase
Q5T6L4 [Target identity:100%; Query identity:100%]
Argininosuccinate synthetase, isoform CRA_a; cDNA, FLJ96050, highly similar to Homo sapiens argininosuccinate synthetase (ASS), transcript variant1, mRNA
Show all
Enzymes
   ENZYME proteins
   Ligase
Predicted intracellular proteins
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000050 [urea cycle]
GO:0000052 [citrulline metabolic process]
GO:0000053 [argininosuccinate metabolic process]
GO:0004055 [argininosuccinate synthase activity]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0006526 [arginine biosynthetic process]
GO:0006531 [aspartate metabolic process]
GO:0006595 [polyamine metabolic process]
GO:0016597 [amino acid binding]
GO:0034641 [cellular nitrogen compound metabolic process]
GO:0042802 [identical protein binding]
GO:0044281 [small molecule metabolic process]
GO:0044822 [poly(A) RNA binding]
GO:0045429 [positive regulation of nitric oxide biosynthetic process]
GO:0070062 [extracellular exosome]
GO:0071499 [cellular response to laminar fluid shear stress]
GO:1903038 [negative regulation of leukocyte cell-cell adhesion]
Show all
 412 aa
46.5 kDa 		No 0
ASS1-004
ENSP00000361471
ENST00000372394
P00966 [Direct mapping]
Argininosuccinate synthase
Q5T6L4 [Target identity:100%; Query identity:100%]
Argininosuccinate synthetase, isoform CRA_a; cDNA, FLJ96050, highly similar to Homo sapiens argininosuccinate synthetase (ASS), transcript variant1, mRNA
Show all
Enzymes
   ENZYME proteins
   Ligase
Predicted intracellular proteins
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000050 [urea cycle]
GO:0000052 [citrulline metabolic process]
GO:0000053 [argininosuccinate metabolic process]
GO:0001822 [kidney development]
GO:0001889 [liver development]
GO:0004055 [argininosuccinate synthase activity]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005741 [mitochondrial outer membrane]
GO:0005764 [lysosome]
GO:0005783 [endoplasmic reticulum]
GO:0005829 [cytosol]
GO:0006526 [arginine biosynthetic process]
GO:0006531 [aspartate metabolic process]
GO:0006595 [polyamine metabolic process]
GO:0006953 [acute-phase response]
GO:0007494 [midgut development]
GO:0007568 [aging]
GO:0007584 [response to nutrient]
GO:0009636 [response to toxic substance]
GO:0010043 [response to zinc ion]
GO:0010046 [response to mycotoxin]
GO:0014075 [response to amine]
GO:0015643 [toxic substance binding]
GO:0016597 [amino acid binding]
GO:0032355 [response to estradiol]
GO:0032496 [response to lipopolysaccharide]
GO:0034641 [cellular nitrogen compound metabolic process]
GO:0042493 [response to drug]
GO:0042802 [identical protein binding]
GO:0043005 [neuron projection]
GO:0043025 [neuronal cell body]
GO:0043200 [response to amino acid]
GO:0043204 [perikaryon]
GO:0043434 [response to peptide hormone]
GO:0044281 [small molecule metabolic process]
GO:0044822 [poly(A) RNA binding]
GO:0045429 [positive regulation of nitric oxide biosynthetic process]
GO:0048545 [response to steroid hormone]
GO:0051384 [response to glucocorticoid]
GO:0060416 [response to growth hormone]
GO:0060539 [diaphragm development]
GO:0070062 [extracellular exosome]
GO:0070542 [response to fatty acid]
GO:0070852 [cell body fiber]
GO:0071222 [cellular response to lipopolysaccharide]
GO:0071230 [cellular response to amino acid stimulus]
GO:0071242 [cellular response to ammonium ion]
GO:0071320 [cellular response to cAMP]
GO:0071346 [cellular response to interferon-gamma]
GO:0071356 [cellular response to tumor necrosis factor]
GO:0071377 [cellular response to glucagon stimulus]
GO:0071400 [cellular response to oleic acid]
GO:0071418 [cellular response to amine stimulus]
GO:0071499 [cellular response to laminar fluid shear stress]
GO:0071549 [cellular response to dexamethasone stimulus]
GO:1903038 [negative regulation of leukocyte cell-cell adhesion]
Show all
 412 aa
46.5 kDa 		No 0
ASS1-005
ENSP00000394212
ENST00000422569
Q5T6L6 [Direct mapping]
Argininosuccinate synthase
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004055 [argininosuccinate synthase activity]
GO:0005524 [ATP binding]
GO:0006526 [arginine biosynthetic process]
Show all
 198 aa
22.4 kDa 		No 0
ASS1-010
ENSP00000397785
ENST00000443588
Q5T6L5 [Direct mapping]
Argininosuccinate synthase
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0004055 [argininosuccinate synthase activity]
GO:0005524 [ATP binding]
GO:0006526 [arginine biosynthetic process]
Show all
 179 aa
20.3 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.