• Gene id: 122622

Gene Summary

• Gene Symbol: ADSS1   Gene   UCSC   Ensembl
• Aliases: ADSSL1, MPD5
• Gene name: adenylosuccinate synthase 1
• Alternate names: adenylosuccinate synthetase isozyme 1, AMPSase 1, IMP--aspartate ligase 1, M-type adenylosuccinate synthetase, adSS 1, adenylosuccinate synthase like 1, adenylosuccinate synthetase, basic isozyme, adenylosuccinate synthetase, muscle isozyme, adenylosuccinate synt,
• Gene location: 14q32.33 (104724200: 104747324)     Exons: 8     NC_000014.9
• Gene summary(Entrez): This gene encodes a member of the adenylosuccinate synthase family of proteins. The encoded muscle-specific enzyme plays a role in the purine nucleotide cycle by catalyzing the first step in the conversion of inosine monophosphate (IMP) to adenosine monop
• OMIM: 612498

Protein Summary

• Protein general information: Q8N142  
  • Name: Adenylosuccinate synthetase isozyme 1 (AMPSase 1) (AdSS 1) (EC 6.3.4.4) (Adenylosuccinate synthetase, basic isozyme) (Adenylosuccinate synthetase, muscle isozyme) (M type adenylosuccinate synthetase) (Adenylosuccinate synthetase like 1) (AdSSL1) (IMP asp
  • Length: 457  
  • Mass: 50208
  • Tissue specificity: Predominantly expressed in skeletal muscle and heart, as well as in several hematopoietic cell lines and solid tumors. {ECO
• Sequence:

  MSGTRASNDRPPGAGGVKRGRLQQEAAATGSRVTVVLGAQWGDEGKGKVVDLLATDADIISRCQGGNNAGHTVVV
  DGKEYDFHLLPSGIINTKAVSFIGNGVVIHLPGLFEEAEKNEKKGLKDWEKRLIISDRAHLVFDFHQAVDGLQEV
  QRQAQEGKNIGTTKKGIGPTYSSKAARTGLRICDLLSDFDEFSSRFKNLAHQHQSMFPTLEIDIEGQLKRLKGFA
  ERIRPMVRDGVYFMYEALHGPPKKILVEGANAALLDIDFGTYPFVTSSNCTVGGVCTGLGIPPQNIGDVYGVVKA
  YTTRVGIGAFPTEQINEIGGLLQTRGHEWGVTTGRKRRCGWLDLMILRYAHMVNGFTALALTKLDILDVLGEVKV
  GVSYKLNGKRIPYFPANQEMLQKVEVEYETLPGWKADTTGARRWEDLPPQAQNYIRFVENHVGVAVKWVGVGKSR
  ESMIQLF

• Structural information:
  • Interpro: IPR018220  IPR033128  IPR042109  IPR042110  IPR042111   IPR001114  IPR027509  IPR027417  
  • Prosite: PS01266 PS00513
  • CDD: cd03108
  • PDB: 2GJO
  • PDBsum: 2GJO
  • STRING: ENSP00000333019
• Other Databases: GeneCards:  ADSS1  Malacards:  ADSS1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0044208	'de novo' AMP biosynthetic process	IBA	biological process
GO:0004019	adenylosuccinate synthase activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0046040	IMP metabolic process	IBA	biological process
GO:0004019	adenylosuccinate synthase activity	IMP	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0004019	adenylosuccinate synthase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0006164	purine nucleotide biosynthetic process	IEA	biological process
GO:0006167	AMP biosynthetic process	IEA	biological process
GO:0005525	GTP binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0006164	purine nucleotide biosynthetic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016874	ligase activity	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0004019	adenylosuccinate synthase activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0009168	purine ribonucleoside monophosphate biosynthetic process	TAS	biological process
GO:0006163	purine nucleotide metabolic process	IEA	biological process
GO:0051015	actin filament binding	IEA	molecular function
GO:0042594	response to starvation	IEA	biological process
GO:0035690	cellular response to drug	IEA	biological process
GO:0014850	response to muscle activity	IEA	biological process
GO:0009168	purine ribonucleoside monophosphate biosynthetic process	IEA	biological process
GO:0006531	aspartate metabolic process	IEA	biological process
GO:0003924	GTPase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0004019	adenylosuccinate synthase activity	IEA	molecular function
GO:0071257	cellular response to electrical stimulus	IEA	biological process
GO:0046040	IMP metabolic process	IEA	biological process
GO:0042802	identical protein binding	IEA	molecular function
GO:0006541	glutamine metabolic process	IEA	biological process
GO:0004019	adenylosuccinate synthase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0000287	magnesium ion binding	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0004019	adenylosuccinate synthase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0006164	purine nucleotide biosynthetic process	IEA	biological process
GO:0044208	'de novo' AMP biosynthetic process	IEA	biological process
GO:0004019	adenylosuccinate synthase activity	IDA	molecular function
GO:0006167	AMP biosynthetic process	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0042301	phosphate ion binding	NAS	molecular function
GO:0002376	immune system process	NAS	biological process
GO:0005525	GTP binding	NAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00230	Purine metabolism
hsa00250	Alanine, aspartate and glutamate metabolism

Diseases

Associated diseases	References
Distal myopathy	KEGG:H00594
Distal myopathy	KEGG:H00594
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray