• Gene id: 445

Gene Summary

• Gene Symbol: ASS1   Gene   UCSC   Ensembl
• Aliases: ASS, CTLN1
• Gene name: argininosuccinate synthase 1
• Alternate names: argininosuccinate synthase, argininosuccinate synthetase 1, citrulline-aspartate ligase, epididymis secretory sperm binding protein,
• Gene location: 9q34.11 (130444706: 130501273)     Exons: 18     NC_000009.12
• Gene summary(Entrez): 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 chromoso
• OMIM: 603470

SNPs

rs12484907

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.50149884G>A
NC_000022.10   g.50588313G>A|SEQ=[G/A]|GENE=MOV10L1

rs12170772

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.50145832C>A
NC_000022.11   g.50145832C>T
NC_000022.10   g.50584261C>A
NC_000022.10   g.50584261C>T|SEQ=[C/A/T]|GENE=MOV10L1

rs11704548

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.50144201G>A
NC_000022.10   g.50582630G>A
XM_005261923.4   c.2403G>A
XM_005261923.1   c.2403G>A
NM_018995.3   c.2463G>A
NM_018995.2   c.2463G>A
XM_011530700.2   c.2307G>A
XR_002958704.1   n.2546G>A
XM_011530697.1   c.2403G>A
XM_011530696.1   c.2463G>A
XM  

rs2272840

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.50149724G>A
NC_000022.11   g.50149724G>T
NC_000022.10   g.50588153G>A
NC_000022.10   g.50588153G>T|SEQ=[G/A/T]|GENE=MOV10L1

rs2272837

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.50144197A>C
NC_000022.11   g.50144197A>G
NC_000022.10   g.50582626A>C
NC_000022.10   g.50582626A>G
XM_005261923.4   c.2399A>C
XM_005261923.4   c.2399A>G
XM_005261923.1   c.2399A>C
XM_005261923.1   c.2399A>G
NM_018995.3   c.2459A>C
NM_018995.3   c.2459A>

rs2272836

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.50144121C>A
NC_000022.11   g.50144121C>T
NC_000022.10   g.50582550C>A
NC_000022.10   g.50582550C>T
XM_005261923.4   c.2323C>A
XM_005261923.4   c.2323C>T
XM_005261923.1   c.2323C>A
XM_005261923.1   c.2323C>T
NM_018995.3   c.2383C>A
NM_018995.3   c.2383C>

rs138271

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.50149702C>T
NC_000022.10   g.50588131C>T
XM_005261923.4   c.2655C>T
XM_005261923.1   c.2655C>T
NM_018995.3   c.2715C>T
NM_018995.2   c.2715C>T
XM_011530700.2   c.2559C>T
XM_011530697.1   c.2655C>T
XM_011530696.1   c.2715C>T
XM_011530699.1   c.2559C>T
XM  

rs2272838

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.50145772A>C
NC_000022.10   g.50584201A>C
XM_005261923.4   c.2529A>C
XM_005261923.1   c.2529A>C
NM_018995.3   c.2589A>C
NM_018995.2   c.2589A>C
XM_011530700.2   c.2433A>C
XR_002958704.1   n.2672A>C
XM_011530697.1   c.2529A>C
XM_011530696.1   c.2589A>C
XM  

rs17248147

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.50149884G>A
NC_000022.10   g.50588313G>A|SEQ=[G/A]|GENE=MOV10L1

Protein Summary

• Protein general information: P00966  
  • Name: Argininosuccinate synthase (EC 6.3.4.5) (Citrulline aspartate ligase)
  • Length: 412  
  • Mass: 46530
  • Tissue specificity: Expressed in adult liver. {ECO
• Sequence:

  MSSKGSVVLAYSGGLDTSCILVWLKEQGYDVIAYLANIGQKEDFEEARKKALKLGAKKVFIEDVSREFVEEFIWP
  AIQSSALYEDRYLLGTSLARPCIARKQVEIAQREGAKYVSHGATGKGNDQVRFELSCYSLAPQIKVIAPWRMPEF
  YNRFKGRNDLMEYAKQHGIPIPVTPKNPWSMDENLMHISYEAGILENPKNQAPPGLYTKTQDPAKAPNTPDILEI
  EFKKGVPVKVTNVKDGTTHQTSLELFMYLNEVAGKHGVGRIDIVENRFIGMKSRGIYETPAGTILYHAHLDIEAF
  TMDREVRKIKQGLGLKFAELVYTGFWHSPECEFVRHCIAKSQERVEGKVQVSVLKGQVYILGRESPLSLYNEELV
  SMNVQGDYEPTDATGFININSLRLKEYHRLQSKVTAK

• Structural information:
  • Interpro: IPR001518  IPR018223  IPR023434  IPR024074  IPR014729  
  • Prosite: PS00564 PS00565
  • CDD: cd01999
  • PDB: 2NZ2
  • PDBsum: 2NZ2
  • DIP: 34055
  • STRING: ENSP00000361471
• Other Databases: GeneCards:  ASS1  Malacards:  ASS1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000053	argininosuccinate metabolic process	IBA	biological process
GO:0006526	arginine biosynthetic process	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0004055	argininosuccinate synthase activity	IBA	molecular function
GO:0000050	urea cycle	IBA	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0007623	circadian rhythm	IDA	biological process
GO:0000050	urea cycle	IMP	biological process
GO:0006526	arginine biosynthetic process	IMP	biological process
GO:0004055	argininosuccinate synthase activity	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004055	argininosuccinate synthase activity	IMP	molecular function
GO:0006526	arginine biosynthetic process	IMP	biological process
GO:0000050	urea cycle	IMP	biological process
GO:0004055	argininosuccinate synthase activity	IMP	molecular function
GO:0004055	argininosuccinate synthase activity	IMP	molecular function
GO:0006526	arginine biosynthetic process	IMP	biological process
GO:0000050	urea cycle	IMP	biological process
GO:0004055	argininosuccinate synthase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006526	arginine biosynthetic process	IEA	biological process
GO:0008652	cellular amino acid biosynthetic process	IEA	biological process
GO:0016874	ligase activity	IEA	molecular function
GO:0006526	arginine biosynthetic process	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0000050	urea cycle	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0005737	cytoplasm	TAS	cellular component
GO:0004055	argininosuccinate synthase activity	IEA	molecular function
GO:0000050	urea cycle	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000053	argininosuccinate metabolic process	IEA	biological process
GO:0001822	kidney development	IEA	biological process
GO:0005764	lysosome	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0007494	midgut development	IEA	biological process
GO:0007568	aging	IEA	biological process
GO:0007584	response to nutrient	IEA	biological process
GO:0009636	response to toxic substance	IEA	biological process
GO:0010043	response to zinc ion	IEA	biological process
GO:0010046	response to mycotoxin	IEA	biological process
GO:0015643	toxic substance binding	IEA	molecular function
GO:0032355	response to estradiol	IEA	biological process
GO:0043005	neuron projection	IEA	cellular component
GO:0048545	response to steroid hormone	IEA	biological process
GO:0051384	response to glucocorticoid	IEA	biological process
GO:0060539	diaphragm development	IEA	biological process
GO:0070852	cell body fiber	IEA	cellular component
GO:0071222	cellular response to lipopolysaccharide	IEA	biological process
GO:0071230	cellular response to amino acid stimulus	IEA	biological process
GO:0071320	cellular response to cAMP	IEA	biological process
GO:0071346	cellular response to interferon-gamma	IEA	biological process
GO:0071356	cellular response to tumor necrosis factor	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0007623	circadian rhythm	IEA	biological process
GO:0000050	urea cycle	IEA	biological process
GO:0001889	liver development	IEA	biological process
GO:0004055	argininosuccinate synthase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0006526	arginine biosynthetic process	IEA	biological process
GO:0006953	acute-phase response	IEA	biological process
GO:0014075	response to amine	IEA	biological process
GO:0032496	response to lipopolysaccharide	IEA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0043025	neuronal cell body	IEA	cellular component
GO:0043200	response to amino acid	IEA	biological process
GO:0043204	perikaryon	IEA	cellular component
GO:0043434	response to peptide hormone	IEA	biological process
GO:0060416	response to growth hormone	IEA	biological process
GO:0070542	response to fatty acid	IEA	biological process
GO:0071242	cellular response to ammonium ion	IEA	biological process
GO:0071377	cellular response to glucagon stimulus	IEA	biological process
GO:0071400	cellular response to oleic acid	IEA	biological process
GO:0071418	cellular response to amine stimulus	IEA	biological process
GO:0071549	cellular response to dexamethasone stimulus	IEA	biological process
GO:0016597	amino acid binding	IMP	molecular function
GO:0004055	argininosuccinate synthase activity	IMP	molecular function
GO:0000052	citrulline metabolic process	IMP	biological process
GO:0000053	argininosuccinate metabolic process	IMP	biological process
GO:0006531	aspartate metabolic process	IMP	biological process
GO:0071499	cellular response to laminar fluid shear stress	IMP	biological process
GO:0000050	urea cycle	IMP	biological process
GO:0045429	positive regulation of nitric oxide biosynthetic process	IMP	biological process
GO:1903038	negative regulation of leukocyte cell-cell adhesion	IMP	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0000050	urea cycle	IEA	biological process
GO:0006526	arginine biosynthetic process	IEA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa05418	Fluid shear stress and atherosclerosis
hsa01230	Biosynthesis of amino acids
hsa00250	Alanine, aspartate and glutamate metabolism
hsa00220	Arginine biosynthesis

Diseases

Associated diseases	References
Primary hyperammonemic disorders	KEGG:H01398
Citrullinemia	KEGG:H00185
Primary hyperammonemic disorders	KEGG:H01398
Citrullinemia	KEGG:H00185
Alzheimer's disease	PMID:11556547
Melanoma	PMID:12359751
hepatocellular carcinoma	PMID:12359751
Citrullinemia	PMID:7557970
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq