• Gene id: 440

Gene Summary

• Gene Symbol: ASNS   Gene   UCSC   Ensembl
• Aliases: ASNSD, TS11
• Gene name: asparagine synthetase (glutamine-hydrolyzing)
• Alternate names: asparagine synthetase [glutamine-hydrolyzing], TS11 cell cycle control protein, glutamine-dependent asparagine synthetase,
• Gene location: 7q21.3 (6436266: 6426036)     Exons: 10     NC_000019.10
• Gene summary(Entrez): The protein encoded by this gene is involved in the synthesis of asparagine. This gene complements a mutation in the temperature-sensitive hamster mutant ts11, which blocks progression through the G1 phase of the cell cycle at nonpermissive temperature. A
• OMIM: 108370

SNPs

rs775700619

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

NC_000011.10   g.73951138G>A
NC_000011.10   g.73951138G>C
NC_000011.9   g.73662183G>A
NC_000011.9   g.73662183G>C
NG_053111.1   g.5820G>A
NG_053111.1   g.5820G>C|SEQ=[G/A/C]|GENE=DNAJB13

rs754776389

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

NC_000011.10   g.73969996T>C
NC_000011.10   g.73969996T>G
NC_000011.9   g.73681041T>C
NC_000011.9   g.73681041T>G
NG_053111.1   g.24678T>C
NG_053111.1   g.24678T>G
NM_153614.3   c.833T>C
NM_153614.3   c.833T>G
NM_153614.2   c.833T>C
NM_153614.2   c.833T>G
XM_011545004.3  

rs371195126

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

NC_000016.10   g.4783690C>G
NC_000016.10   g.4783690C>T
NC_000016.9   g.4833691C>G
NC_000016.9   g.4833691C>T
NG_030315.1   g.9832G>C
NG_030315.1   g.9832G>A
NM_144605.5   c.589G>C
NM_144605.5   c.589G>A
NM_144605.4   c.589G>C
NM_144605.4   c.589G>A
NM_001154458.3   c.451

rs199696526

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

NC_000016.10   g.4786006G>A
NC_000016.9   g.4836007G>A
NG_030315.1   g.7516C>T
NM_144605.5   c.266C>T
NM_144605.4   c.266C>T
NM_001154458.3   c.266C>T
NM_001154458.2   c.266C>T
XM_011522379.3   c.74C>T
XM_006720846.2   c.266C>T
XM_024450155.1   c.266C>T
XM_017022938.1   c

rs12520985

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

NC_000005.10   g.133911770T>G
NC_000005.9   g.133247461T>G|SEQ=[T/G]|GENE=WSPAR

rs11703684

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

NC_000022.11   g.24748945C>G
NC_000022.11   g.24748945C>T
NC_000022.10   g.25144912C>G
NC_000022.10   g.25144912C>T
NM_001008496.3   c.1411G>C
NM_001008496.3   c.1411G>A
NR_045648.1   n.2042G>C
NR_045648.1   n.2042G>A
NR_045649.1   n.1915A>G
NR_045649.1   n.1915A>C
NM_0  

rs759992

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

NC_000016.10   g.4788494A>C
NC_000016.10   g.4788494A>G
NC_000016.9   g.4838495A>C
NC_000016.9   g.4838495A>G
NG_030315.1   g.5028T>G
NG_030315.1   g.5028T>C
NM_144605.4   c.-237T>G
NM_144605.4   c.-237T>C
NM_001154458.2   c.-237T>G
NM_001154458.2   c.-237T>C
XM_0115225  

rs3827527

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

NC_000016.10   g.4788322G>A
NC_000016.9   g.4838323G>A
NG_030315.1   g.5200C>T
NM_144605.5   c.-65C>T
NM_144605.4   c.-65C>T
NM_001154458.3   c.-65C>T
NM_001154458.2   c.-65C>T
XM_011522379.3   c.-268C>T|SEQ=[G/A]|GENE=SEPTIN12
SMIM22   440335

rs3021522

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

NC_000012.12   g.2799979C>G
NC_000012.11   g.2909145C>G|SEQ=[C/G]|GENE=FKBP4
ITFG2-AS1   283440

rs1164594027

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

NC_000016.10   g.4787507C>T
NC_000016.9   g.4837508C>T
NG_030315.1   g.6015G>A
NM_144605.5   c.139G>A
NM_144605.4   c.139G>A
NM_001154458.3   c.139G>A
NM_001154458.2   c.139G>A
XM_011522379.3   c.-65G>A
XM_006720846.2   c.139G>A
XM_024450155.1   c.139G>A
NP_653206.2   p.G

rs1384271239

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

NC_000016.10   g.4787501C>G
NC_000016.9   g.4837502C>G
NG_030315.1   g.6021G>C
NM_144605.5   c.145G>C
NM_144605.4   c.145G>C
NM_001154458.3   c.145G>C
NM_001154458.2   c.145G>C
XM_011522379.3   c.-59G>C
XM_006720846.2   c.145G>C
XM_024450155.1   c.145G>C
NP_653206.2   p.G

rs1452958171

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

NC_000016.10   g.4786019G>A
NC_000016.9   g.4836020G>A
NG_030315.1   g.7503C>T
NM_144605.5   c.253C>T
NM_144605.4   c.253C>T
NM_001154458.3   c.253C>T
NM_001154458.2   c.253C>T
XM_011522379.3   c.61C>T
XM_006720846.2   c.253C>T
XM_024450155.1   c.253C>T
XM_017022938.1   c

rs6500633

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

NC_000016.10   g.4783550T>C
NC_000016.9   g.4833551T>C
NG_030315.1   g.9972A>G
NM_144605.5   c.638A>G
NM_144605.4   c.638A>G
NM_001154458.3   c.500A>G
NM_001154458.2   c.500A>G
XM_011522379.3   c.446A>G
XM_006720846.2   c.638A>G
XM_024450155.1   c.638A>G
XM_017022938.1  

Protein Summary

• Protein general information: P08243  
  • Name: Asparagine synthetase [glutamine hydrolyzing] (EC 6.3.5.4) (Cell cycle control protein TS11) (Glutamine dependent asparagine synthetase)
  • Length: 561  
  • Mass: 64370
• Sequence:

  MCGIWALFGSDDCLSVQCLSAMKIAHRGPDAFRFENVNGYTNCCFGFHRLAVVDPLFGMQPIRVKKYPYLWLCYN
  GEIYNHKKMQQHFEFEYQTKVDGEIILHLYDKGGIEQTICMLDGVFAFVLLDTANKKVFLGRDTYGVRPLFKAMT
  EDGFLAVCSEAKGLVTLKHSATPFLKVEPFLPGHYEVLDLKPNGKVASVEMVKYHHCRDVPLHALYDNVEKLFPG
  FEIETVKNNLRILFNNAVKKRLMTDRRIGCLLSGGLDSSLVAATLLKQLKEAQVQYPLQTFAIGMEDSPDLLAAR
  KVADHIGSEHYEVLFNSEEGIQALDEVIFSLETYDITTVRASVGMYLISKYIRKNTDSVVIFSGEGSDELTQGYI
  YFHKAPSPEKAEEESERLLRELYLFDVLRADRTTAAHGLELRVPFLDHRFSSYYLSLPPEMRIPKNGIEKHLLRE
  TFEDSNLIPKEILWRPKEAFSDGITSVKNSWFKILQEYVEHQVDDAMMANAAQKFPFNTPKTKEGYYYRQVFERH
  YPGRADWLSHYWMPKWINATDPSARTLTHYKSAVKA

• Structural information:
  • Protein Domains: (2..19-)
    type-2 (/note="Glutamine-amidotransferase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00609-)
    (213..53-)
    (/note="Asparagine-synthetase")
  • Interpro: IPR006426  IPR001962  IPR033738  IPR017932  IPR029055   IPR014729  
  • Prosite: PS51278
  • CDD: cd01991 cd00712
  • PDB: 6GQ3
  • PDBsum: 6GQ3
  • STRING: ENSP00000175506
• Other Databases: GeneCards:  ASNS  Malacards:  ASNS

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004066	asparagine synthase (glutamine-hydrolyzing) activity	IBA	molecular function
GO:0005829	cytosol	IBA	cellular component
GO:0006529	asparagine biosynthetic process	IBA	biological process
GO:0006529	asparagine biosynthetic process	IEA	biological process
GO:0004066	asparagine synthase (glutamine-hydrolyzing) activity	IEA	molecular function
GO:0008652	cellular amino acid biosynthetic process	IEA	biological process
GO:0006529	asparagine biosynthetic process	IEA	biological process
GO:0016874	ligase activity	IEA	molecular function
GO:0006541	glutamine metabolic process	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0004066	asparagine synthase (glutamine-hydrolyzing) activity	IEA	molecular function
GO:0006529	asparagine biosynthetic process	IDA	biological process
GO:0004066	asparagine synthase (glutamine-hydrolyzing) activity	IDA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0008652	cellular amino acid biosynthetic process	TAS	biological process
GO:0036499	PERK-mediated unfolded protein response	TAS	biological process
GO:0005515	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:0001889	liver development	IEA	biological process
GO:0004066	asparagine synthase (glutamine-hydrolyzing) activity	IEA	molecular function
GO:0006520	cellular amino acid metabolic process	IEA	biological process
GO:0009416	response to light stimulus	IEA	biological process
GO:0031427	response to methotrexate	IEA	biological process
GO:0031667	response to nutrient levels	IEA	biological process
GO:0032354	response to follicle-stimulating hormone	IEA	biological process
GO:0032870	cellular response to hormone stimulus	IEA	biological process
GO:0042802	identical protein binding	IEA	molecular function
GO:0043200	response to amino acid	IEA	biological process
GO:0006529	asparagine biosynthetic process	IEA	biological process
GO:0009612	response to mechanical stimulus	IEA	biological process
GO:0009636	response to toxic substance	IEA	biological process
GO:0042149	cellular response to glucose starvation	IEA	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0070981	L-asparagine biosynthetic process	IEA	biological process
GO:0045931	positive regulation of mitotic cell cycle	IDA	biological process
GO:0042149	cellular response to glucose starvation	IDA	biological process
GO:0006529	asparagine biosynthetic process	IC	biological process
GO:0004066	asparagine synthase (glutamine-hydrolyzing) activity	IDA	molecular function
GO:0004066	asparagine synthase (glutamine-hydrolyzing) activity	IDA	molecular function
GO:0004066	asparagine synthase (glutamine-hydrolyzing) activity	IDA	molecular function
GO:0004066	asparagine synthase (glutamine-hydrolyzing) activity	IDA	molecular function
GO:0043066	negative regulation of apoptotic process	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa01230	Biosynthesis of amino acids
hsa00250	Alanine, aspartate and glutamate metabolism

Diseases

Associated diseases	References
Asparagine synthetase deficiency	KEGG:H01386
Asparagine synthetase deficiency	KEGG:H01386
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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