Argininosuccinate synthetase 1: Difference between revisions

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{{Infobox_gene}}
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'''Argininosuccinate synthetase''' is an [[enzyme]] that in humans is encoded by the ''ASS1'' [[gene]].<ref name="pmid3513483">{{cite journal | vauthors = Beaudet AL, O'Brien WE, Bock HG, Freytag SO, Su TS | title = The human argininosuccinate synthetase locus and citrullinemia | journal = Adv Hum Genet | volume = 15 | issue =  | pages = 161–96, 291–2 |date=Mar 1986 | pmid = 3513483 | pmc =  | doi =  }}</ref><ref name="pmid852520">{{cite journal | vauthors = Carritt B, Goldfarb PS, Hooper ML, Slack C | title = Chromosome assignment of a human gene for argininosuccinate synthetase expression in Chinese hamsterxhuman somatic cell hybrids | journal = Exp Cell Res | volume = 106 | issue = 1 | pages = 71–8 |date=Jun 1977 | pmid = 852520 | pmc =  | doi =10.1016/0014-4827(77)90242-7 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: ASS1 argininosuccinate synthetase 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=445| accessdate = }}</ref>
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image = PBB_Protein_ASS1_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 2nz2.
| PDB = {{PDB2|2nz2}}
| Name = Argininosuccinate synthetase 1
| HGNCid = 758
| Symbol = ASS1
| AltSymbols =; ASS; CTLN1
  | OMIM = 603470
| ECnumber =
| Homologene = 6899
| MGIid = 88090
  | GeneAtlas_image1 = PBB_GE_ASS1_207076_s_at_tn.png
  | Function = {{GNF_GO|id=GO:0000166 |text = nucleotide binding}} {{GNF_GO|id=GO:0004055 |text = argininosuccinate synthase activity}} {{GNF_GO|id=GO:0005515 |text = protein binding}} {{GNF_GO|id=GO:0005524 |text = ATP binding}} {{GNF_GO|id=GO:0016874 |text = ligase activity}}
| Component = {{GNF_GO|id=GO:0005737 |text = cytoplasm}}
  | Process = {{GNF_GO|id=GO:0000050 |text = urea cycle}} {{GNF_GO|id=GO:0006526 |text = arginine biosynthetic process}} {{GNF_GO|id=GO:0008652 |text = amino acid biosynthetic process}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 445
    | Hs_Ensembl = ENSG00000130707
    | Hs_RefseqProtein = NP_000041
    | Hs_RefseqmRNA = NM_000050
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 9
    | Hs_GenLoc_start = 132310137
    | Hs_GenLoc_end = 132366482
    | Hs_Uniprot = P00966
    | Mm_EntrezGene = 11898
    | Mm_Ensembl = ENSMUSG00000076441
    | Mm_RefseqmRNA = NM_007494
    | Mm_RefseqProtein = NP_031520
    | Mm_GenLoc_db =   
    | Mm_GenLoc_chr = 2
    | Mm_GenLoc_start = 31292216
    | Mm_GenLoc_end = 31342681
    | Mm_Uniprot = Q3UEJ7
  }}
}}
'''Argininosuccinate synthetase 1''', also known as '''ASS1''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: ASS1 argininosuccinate synthetase 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=445| accessdate = }}</ref>


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{{PBB_Summary
{{PBB_Summary
| section_title =  
| section_title =  
| summary_text = 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 ASS cause citrullinemia. Two transcript variants encoding the same protein have been found for this gene.<ref name="entrez">{{cite web | title = Entrez Gene: ASS1 argininosuccinate synthetase 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=445| accessdate = }}</ref>
| summary_text = The [[protein]] encoded by this gene [[catalysis|catalyzes]] the penultimate step of the [[arginine#Biosynthesis|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. Two [[transcription (genetics)|transcript]] variants encoding the same protein have been found for this gene.<ref name="entrez" />
}}
}}
==Clinical significance==
[[Mutations]] in the [[chromosome 9]] copy of ASS cause [[citrullinemia]].<ref name="pmid3513483"/>
40% to 90%<ref>[http://www.genengnews.com/gen-news-highlights/novel-bladder-cancer-therapy-based-on-arginine-deprivation-shows-promising-results/81253535 Novel Bladder Cancer Therapy Based on Arginine Deprivation Shows Promising Results]</ref> of [[bladder cancer]]s are deficient in argininosuccinate synthetase.<ref>[http://www.biotechdaily.com/drug-discovery/articles/294767359/novel-approach-to-bladder-cancer-chemotherapy-based-on-arginine-depletion.html Novel Approach to Bladder Cancer Chemotherapy Based on Arginine Depletion]</ref><ref>[http://clincancerres.aacrjournals.org/content/16/14_Supplement/A23 Frequent ASS1 deficiency in bladder cancer and sensitivity to pegylated arginine deiminase (ADI-PEG20): A potential novel therapeutic strategy]</ref><ref>[https://qmro.qmul.ac.uk/xmlui/handle/123456789/6977 Prognostic and therapeutic impact of argininosuccinate synthetase 1 control in bladder cancer as monitored longitudinally by PET imaging.]</ref>


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| citations =  
*{{cite journal  | author=Beaudet AL, O'Brien WE, Bock HG, ''et al.'' |title=The human argininosuccinate synthetase locus and citrullinemia. |journal=Adv. Hum. Genet. |volume=15 |issue=  |pages= 161-96, 291-2 |year= 1986 |pmid= 3513483 |doi=  }}
*{{cite journal  | author=Ikeda S |title=[Recent advances of the treatment in metabolic disorders] |journal=Rinsho Shinkeigaku |volume=40 |issue= 12 |pages= 1264–6 |year= 2001 |pmid= 11464474 |doi=  }}
*{{cite journal  | author=Ikeda S |title=[Recent advances of the treatment in metabolic disorders] |journal=Rinsho Shinkeigaku |volume=40 |issue= 12 |pages= 1264-6 |year= 2001 |pmid= 11464474 |doi=  }}
*{{cite journal  | author=Carritt B |title=Somatic cell genetic evidence for the presence of a gene for citrullinemia on human chromosome 9 |journal=Cytogenet. Cell Genet. |volume=19 |issue= 1 |pages= 44–8 |year= 1977 |pmid= 891260 |doi=10.1159/000130793 }}
*{{cite journal  | author=Carritt B, Goldfarb PS, Hooper ML, Slack C |title=Chromosome assignment of a human gene for argininosuccinate synthetase expression in Chinese hamsterxhuman somatic cell hybrids. |journal=Exp. Cell Res. |volume=106 |issue= 1 |pages= 71-8 |year= 1977 |pmid= 852520 |doi=  }}
*{{cite journal  | vauthors=Dhanakoti SN, Brosnan ME, Herzberg GR, Brosnan JT |title=Cellular and subcellular localization of enzymes of arginine metabolism in rat kidney |journal=Biochem. J. |volume=282 |issue=  Pt 2|pages= 369–75 |year= 1992 |pmid= 1312326 |doi= | pmc=1130788 }}
*{{cite journal  | author=Carritt B |title=Somatic cell genetic evidence for the presence of a gene for citrullinemia on human chromosome 9. |journal=Cytogenet. Cell Genet. |volume=19 |issue= 1 |pages= 44-8 |year= 1977 |pmid= 891260 |doi=  }}
*{{cite journal  | author=Wakui H |title=Renal argininosuccinate synthetase: purification, immunohistochemical localization, and elastin-binding property |journal=Ren. Physiol. Biochem. |volume=15 |issue= 1 |pages= 1–9 |year= 1992 |pmid= 1372742 |doi= 10.1159/000173435|name-list-format=vanc| author2=Komatsuda A  | author3=Itoh H  | display-authors=3  | last4=Kobayashi  | first4=R  | last5=Nakamoto  | first5=Y  | last6=Miura  | first6=AB }}
*{{cite journal  | author=Dhanakoti SN, Brosnan ME, Herzberg GR, Brosnan JT |title=Cellular and subcellular localization of enzymes of arginine metabolism in rat kidney. |journal=Biochem. J. |volume=282 ( Pt 2) |issue=  |pages= 369-75 |year= 1992 |pmid= 1312326 |doi=  }}
*{{cite journal  | vauthors=Kobayashi K, Rosenbloom C, Beaudet AL, O'Brien WE |title=Additional mutations in argininosuccinate synthetase causing citrullinemia |journal=Mol. Biol. Med. |volume=8 |issue= 1 |pages= 95–100 |year= 1991 |pmid= 1943692 |doi=  }}
*{{cite journal  | author=Wakui H, Komatsuda A, Itoh H, ''et al.'' |title=Renal argininosuccinate synthetase: purification, immunohistochemical localization, and elastin-binding property. |journal=Ren. Physiol. Biochem. |volume=15 |issue= 1 |pages= 1-9 |year= 1992 |pmid= 1372742 |doi=  }}
*{{cite journal  | author=Kobayashi K |title=Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia |journal=J. Biol. Chem. |volume=265 |issue= 19 |pages= 11361–7 |year= 1990 |pmid= 2358466 |doi= |name-list-format=vanc| author2=Jackson MJ  | author3=Tick DB  | display-authors=3  | last4=O'Brien  | first4=WE  | last5=Beaudet  | first5=AL }}
*{{cite journal  | author=Kobayashi K, Rosenbloom C, Beaudet AL, O'Brien WE |title=Additional mutations in argininosuccinate synthetase causing citrullinemia. |journal=Mol. Biol. Med. |volume=8 |issue= 1 |pages= 95-100 |year= 1991 |pmid= 1943692 |doi=  }}
*{{cite journal  | author=Isashiki Y |title=Identification of essential arginine residue(s) for Mg-ATP binding of human argininosuccinate synthetase |journal=Protein Seq. Data Anal. |volume=2 |issue= 4 |pages= 283–7 |year= 1989 |pmid= 2788888 |doi= |name-list-format=vanc| author2=Noda T  | author3=Kobayashi K  | display-authors=3  | last4=Sase  | first4=M  | last5=Saheki  | first5=T  | last6=Titani  | first6=K }}
*{{cite journal  | author=Kobayashi K, Jackson MJ, Tick DB, ''et al.'' |title=Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia. |journal=J. Biol. Chem. |volume=265 |issue= 19 |pages= 11361-7 |year= 1990 |pmid= 2358466 |doi=  }}
*{{cite journal  | author=Jinno Y |title=Structure of the 5' end region of the human argininosuccinate synthetase gene |journal=J. Inherit. Metab. Dis. |volume=8 |issue= 3 |pages= 157–9 |year= 1987 |pmid= 3027451 |doi=10.1007/BF01819307  |name-list-format=vanc| author2=Nomiyama H  | author3=Matuo S  | display-authors=3  | last4=Shimada  | first4=K.  | last5=Matsuda  | first5=I.  | last6=Saheki  | first6=T. }}
*{{cite journal  | author=Isashiki Y, Noda T, Kobayashi K, ''et al.'' |title=Identification of essential arginine residue(s) for Mg-ATP binding of human argininosuccinate synthetase. |journal=Protein Seq. Data Anal. |volume=2 |issue= 4 |pages= 283-7 |year= 1989 |pmid= 2788888 |doi=  }}
*{{cite journal  | vauthors=Freytag SO, Beaudet AL, Bock HG, O'Brien WE |title=Molecular structure of the human argininosuccinate synthetase gene: occurrence of alternative mRNA splicing |journal=Mol. Cell. Biol. |volume=4 |issue= 10 |pages= 1978–84 |year= 1985 |pmid= 6095035 |doi= | pmc=369014 }}
*{{cite journal  | author=Jinno Y, Nomiyama H, Matuo S, ''et al.'' |title=Structure of the 5' end region of the human argininosuccinate synthetase gene. |journal=J. Inherit. Metab. Dis. |volume=8 |issue= 3 |pages= 157-9 |year= 1987 |pmid= 3027451 |doi=  }}
*{{cite journal  | vauthors=Bock HG, Su TS, O'Brien WE, Beaudet AL |title=Sequence for human argininosuccinate synthetase cDNA |journal=Nucleic Acids Res. |volume=11 |issue= 18 |pages= 6505–12 |year= 1983 |pmid= 6194510 |doi=10.1093/nar/11.18.6505  | pmc=326390 }}
*{{cite journal  | author=Freytag SO, Beaudet AL, Bock HG, O'Brien WE |title=Molecular structure of the human argininosuccinate synthetase gene: occurrence of alternative mRNA splicing. |journal=Mol. Cell. Biol. |volume=4 |issue= 10 |pages= 1978-84 |year= 1985 |pmid= 6095035 |doi=  }}
*{{cite journal  | vauthors=Freytag SO, Bock HG, Beaudet AL, O'Brien WE |title=Molecular structures of human argininosuccinate synthetase pseudogenes. Evolutionary and mechanistic implications |journal=J. Biol. Chem. |volume=259 |issue= 5 |pages= 3160–6 |year= 1984 |pmid= 6321498 |doi=  }}
*{{cite journal  | author=Bock HG, Su TS, O'Brien WE, Beaudet AL |title=Sequence for human argininosuccinate synthetase cDNA. |journal=Nucleic Acids Res. |volume=11 |issue= 18 |pages= 6505-12 |year= 1983 |pmid= 6194510 |doi=  }}
*{{cite journal  | author=Kobayashi K |title=Nature and frequency of mutations in the argininosuccinate synthetase gene that cause classical citrullinemia |journal=Hum. Genet. |volume=96 |issue= 4 |pages= 454–63 |year= 1995 |pmid= 7557970 |doi=10.1007/BF00191806  |name-list-format=vanc| author2=Kakinoki H  | author3=Fukushige T  | display-authors=3  | last4=Shaheen  | first4=Nazma  | last5=Terazono  | first5=Hiroki  | last6=Saheki  | first6=Takeyori }}
*{{cite journal  | author=Freytag SO, Bock HG, Beaudet AL, O'Brien WE |title=Molecular structures of human argininosuccinate synthetase pseudogenes. Evolutionary and mechanistic implications. |journal=J. Biol. Chem. |volume=259 |issue= 5 |pages= 3160-6 |year= 1984 |pmid= 6321498 |doi=  }}
*{{cite journal  | vauthors=Kobayashi K, Shaheen N, Terazono H, Saheki T |title=Mutations in argininosuccinate synthetase mRNA of Japanese patients, causing classical citrullinemia |journal=Am. J. Hum. Genet. |volume=55 |issue= 6 |pages= 1103–12 |year= 1994 |pmid= 7977368 |doi= | pmc=1918437 }}
*{{cite journal  | author=Kobayashi K, Kakinoki H, Fukushige T, ''et al.'' |title=Nature and frequency of mutations in the argininosuccinate synthetase gene that cause classical citrullinemia. |journal=Hum. Genet. |volume=96 |issue= 4 |pages= 454-63 |year= 1995 |pmid= 7557970 |doi=  }}
*{{cite journal  | author=Shaheen N |title=Characterization of human wild-type and mutant argininosuccinate synthetase proteins expressed in bacterial cells |journal=Enzyme Protein |volume=48 |issue= 5–6 |pages= 251–64 |year= 1996 |pmid= 8792870 |doi= |name-list-format=vanc| author2=Kobayashi K  | author3=Terazono H  | display-authors=3  | last4=Fukushige  | first4=T  | last5=Horiuchi  | first5=M  | last6=Saheki  | first6=T }}
*{{cite journal  | author=Kobayashi K, Shaheen N, Terazono H, Saheki T |title=Mutations in argininosuccinate synthetase mRNA of Japanese patients, causing classical citrullinemia. |journal=Am. J. Hum. Genet. |volume=55 |issue= 6 |pages= 1103-12 |year= 1994 |pmid= 7977368 |doi=  }}
*{{cite journal  | author=Gress TM |title=A pancreatic cancer-specific expression profile |journal=Oncogene |volume=13 |issue= 8 |pages= 1819–30 |year= 1996 |pmid= 8895530 |doi= |name-list-format=vanc| author2=Müller-Pillasch F  | author3=Geng M  | display-authors=3  | last4=Zimmerhackl  | first4=F  | last5=Zehetner  | first5=G  | last6=Friess  | first6=H  | last7=Büchler  | first7=M  | last8=Adler  | first8=G  | last9=Lehrach  | first9=H }}
*{{cite journal  | author=Shaheen N, Kobayashi K, Terazono H, ''et al.'' |title=Characterization of human wild-type and mutant argininosuccinate synthetase proteins expressed in bacterial cells. |journal=Enzyme Protein |volume=48 |issue= 5-6 |pages= 251-64 |year= 1996 |pmid= 8792870 |doi=  }}
*{{cite journal  | author=Ji H |title=A two-dimensional gel database of human colon carcinoma proteins |journal=Electrophoresis |volume=18 |issue= 3–4 |pages= 605–13 |year= 1997 |pmid= 9150948 |doi= 10.1002/elps.1150180344 |name-list-format=vanc| author2=Reid GE  | author3=Moritz RL  | display-authors=3  | last4=Eddes  | first4=James S.  | last5=Burgess  | first5=Antony W.  | last6=Simpson  | first6=Richard J. }}
*{{cite journal  | author=Gress TM, Müller-Pillasch F, Geng M, ''et al.'' |title=A pancreatic cancer-specific expression profile. |journal=Oncogene |volume=13 |issue= 8 |pages= 1819-30 |year= 1996 |pmid= 8895530 |doi=  }}
*{{cite journal  | author=Ji H, Reid GE, Moritz RL, ''et al.'' |title=A two-dimensional gel database of human colon carcinoma proteins. |journal=Electrophoresis |volume=18 |issue= 3-4 |pages= 605-13 |year= 1997 |pmid= 9150948 |doi= 10.1002/elps.1150180344 }}
}}
}}
{{refend}}
{{refend}}


{{protein-stub}}
==External links==
* [https://www.ncbi.nlm.nih.gov/books/NBK1217/  GeneReviews/NCBI/NIH/UW entry on Urea Cycle Disorders Overview]
*[https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ctlm GeneReviews/NCBI/NIH/UW entry on Argininosuccinate Synthetase Deficiency; ASS Deficiency; Argininosuccinic Acid Synthetase Deficiency; CTLN1; Citrullinemia, Classic]
* {{UCSC gene info|ASS1}}
 
{{PDB Gallery|geneid=445}}
 
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{{gene-9-stub}}

Latest revision as of 00:48, 30 August 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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Wikidata
View/Edit Human

Argininosuccinate synthetase is an enzyme that in humans is encoded by the ASS1 gene.[1][2][3]

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. Two transcript variants encoding the same protein have been found for this gene.[3]

Clinical significance

Mutations in the chromosome 9 copy of ASS cause citrullinemia.[1]

40% to 90%[4] of bladder cancers are deficient in argininosuccinate synthetase.[5][6][7]

References

  1. ↑ 1.0 1.1 Beaudet AL, O'Brien WE, Bock HG, Freytag SO, Su TS (Mar 1986). "The human argininosuccinate synthetase locus and citrullinemia". Adv Hum Genet. 15: 161–96, 291–2. PMID 3513483.
  2. ↑ Carritt B, Goldfarb PS, Hooper ML, Slack C (Jun 1977). "Chromosome assignment of a human gene for argininosuccinate synthetase expression in Chinese hamsterxhuman somatic cell hybrids". Exp Cell Res. 106 (1): 71–8. doi:10.1016/0014-4827(77)90242-7. PMID 852520.
  3. ↑ 3.0 3.1 "Entrez Gene: ASS1 argininosuccinate synthetase 1".
  4. ↑ Novel Bladder Cancer Therapy Based on Arginine Deprivation Shows Promising Results
  5. ↑ Novel Approach to Bladder Cancer Chemotherapy Based on Arginine Depletion
  6. ↑ Frequent ASS1 deficiency in bladder cancer and sensitivity to pegylated arginine deiminase (ADI-PEG20): A potential novel therapeutic strategy
  7. ↑ Prognostic and therapeutic impact of argininosuccinate synthetase 1 control in bladder cancer as monitored longitudinally by PET imaging.

Further reading

External links



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