ASS1

GENERAL INFORMATION

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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

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RNA tissue category

HPA:Group enriched (kidney, liver)
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

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

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining mainly consistent with RNA expression data.

Data reliability

Supportive based on 2 antibodies.
HPA020896 , HPA020934
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Urinary bladder

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Group enriched (kidney, liver)

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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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 78.38)

Entrez gene

445

UniProt

P00966 (UniProt - Evidence at protein level)

neXtProt

NX_P00966

Antibodypedia

ASS1 antibodies


PROTEIN BROWSER

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ENST00000352480
 
ENST00000372393
 
ENST00000372394
 
ENST00000422569
 
ENST00000443588
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ASS1-002 ENSP00000253004
ENST00000352480
P00966
Show all »
Show » Show » 412 46.5 No 0
ASS1-003 ENSP00000361469
ENST00000372393
P00966
Show all »
Show » Show » 412 46.5 No 0
ASS1-004 ENSP00000361471
ENST00000372394
P00966
Show all »
Show » Show » 412 46.5 No 0
ASS1-005 ENSP00000394212
ENST00000422569
Q5T6L6
Show all »
Show » Show » 198 22.4 No 0
ASS1-010 ENSP00000397785
ENST00000443588
Q5T6L5
Show all »
Show » Show » 179 20.3 No 0