ADSS1 (adenylosuccinate synthase 1)

Gene

• Entrez ID: 122622
• Gene name: Adenylosuccinate synthase 1
• Gene symbol: ADSS1
• Synonyms (NCBI Gene): ADSSL1, MPD5
• Chromosome: 14
• Chromosome location: 14q32.33
• Summary: 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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000287	Function	Magnesium ion binding	IEA
GO:0002376	Process	Immune system process	NAS	15786719
GO:0003924	Function	GTPase activity	IEA
GO:0004019	Function	Adenylosuccinate synthase activity	IBA
GO:0004019	Function	Adenylosuccinate synthase activity	IDA	15786719
GO:0004019	Function	Adenylosuccinate synthase activity	IEA
GO:0004019	Function	Adenylosuccinate synthase activity	IMP	26506222
GO:0005515	Function	Protein binding	IPI	28514442, 33961781
GO:0005525	Function	GTP binding	IEA
GO:0005525	Function	GTP binding	NAS	15786719
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	15786719
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006163	Process	Purine nucleotide metabolic process	IEA
GO:0006164	Process	Purine nucleotide biosynthetic process	IEA
GO:0006167	Process	AMP biosynthetic process	IDA	15786719
GO:0006167	Process	AMP biosynthetic process	IEA
GO:0006531	Process	Aspartate metabolic process	IEA
GO:0006541	Process	Glutamine metabolic process	IEA
GO:0014850	Process	Response to muscle activity	IEA
GO:0016874	Function	Ligase activity	IEA
GO:0042301	Function	Phosphate ion binding	NAS	15786719
GO:0042594	Process	Response to starvation	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0044208	Process	'de novo' AMP biosynthetic process	IBA
GO:0044208	Process	'de novo' AMP biosynthetic process	IEA
GO:0044209	Process	AMP salvage	IEA
GO:0046040	Process	IMP metabolic process	IBA
GO:0046040	Process	IMP metabolic process	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051015	Function	Actin filament binding	IEA
GO:0071257	Process	Cellular response to electrical stimulus	IEA
GO:0071466	Process	Cellular response to xenobiotic stimulus	IEA

Other IDs

• MIM: 612498
• HGNC: 20093
• e!Ensembl: ENSG00000185100

Protein

• UniProt ID: Q8N142
• Protein 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
• Protein function: Component of the purine nucleotide cycle (PNC), which interconverts IMP and AMP to regulate the nucleotide levels in various tissues, and which contributes to glycolysis and ammoniagenesis. Catalyzes the first committed step in the biosynthesis
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00709	Adenylsucc_synt	34 → 454	Adenylosuccinate synthetase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Predominantly expressed in skeletal muscle and heart, as well as in several hematopoietic cell lines and solid tumors. {ECO:0000269|PubMed:15786719}.
• Sequence:

  MSGTRASNDRPPGAGGVKRGRLQQEAAATGSRVTVVLGAQWGDEGKGKVVDLLATDADII
  SRCQGGNNAGHTVVVDGKEYDFHLLPSGIINTKAVSFIGNGVVIHLPGLFEEAEKNEKKG
  LKDWEKRLIISDRAHLVFDFHQAVDGLQEVQRQAQEGKNIGTTKKGIGPTYSSKAARTGL
  RICDLLSDFDEFSSRFKNLAHQHQSMFPTLEIDIEGQLKRLKGFAERIRPMVRDGVYFMY
  EALHGPPKKILVEGANAALLDIDFGTYPFVTSSNCTVGGVCTGLGIPPQNIGDVYGVVKA
  YTTRVGIGAFPTEQINEIGGLLQTRGHEWGVTTGRKRRCGWLDLMILRYAHMVNGFTALA
  LTKLDILDVLGEVKVGVSYKLNGKRIPYFPANQEMLQKVEVEYETLPGWKADTTGARRWE
  DLPPQAQNYIRFVENHVGVAVKWVGVGKSRESMIQLF

• Sequence length: 457

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Acute myeloid leukemia	Likely pathogenic	rs376223981	RCV005929999	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ADSS1-related disorder	Likely pathogenic; Pathogenic	rs140614802	RCV003401191	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Arthrogryposis multiplex congenita	Likely pathogenic; Pathogenic	rs769542442	RCV000855488	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colon adenocarcinoma	Likely pathogenic	rs761489014	RCV005930001	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fetal akinesia deformation sequence 1	Likely pathogenic; Pathogenic	rs769542442	RCV000855488	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy, distal, 5	Likely pathogenic; Pathogenic	rs774425831, rs1175622794, rs769542442, rs1566800987, rs756832498, rs1890853802, rs140614802, rs559454746, rs1891497352	RCV003145649 RCV005866999 RCV004785536 RCV005397340 RCV005397341 RCV003144952 RCV000235016 RCV000235019 RCV002290480 RCV001263556	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ovarian serous cystadenocarcinoma	Likely pathogenic	rs376223981	RCV005930000	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEAR CELL RENAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISORDER OF PHARYNX	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PENA-SHOKEIR SYNDROME TYPE I	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TONSILLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	19603421		★☆☆☆☆ Found in Text Mining only
Adenylosuccinate synthetase-like 1-related distal myopathy	Adenylosuccinate Synthetase-Like Distal Myopathy	Orphanet			★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	29059683		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma of lung	Lung carcinoma	BEFREE	19603421		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	19603421		★☆☆☆☆ Found in Text Mining only
Distal amyotrophy	Distal amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Distal lower limb amyotrophy	Distal lower limb amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Distal Muscular Dystrophies	Distal Muscular Dystrophy	BEFREE	26506222, 28268051, 30853170		★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Flexion contracture - elbow	Elbow flexion contracture	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Keratoconjunctivitis Sicca	Keratoconjunctivitis Sicca	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	19603421		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	26506222, 28268051, 30853170		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
MYOPATHY, DISTAL, 5	Distal Myopathy	GENOMICS_ENGLAND_DG	26506222		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MYOPATHY, DISTAL, 5	Distal Myopathy	ORPHANET_DG	26506222, 27868399, 28268051		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MYOPATHY, DISTAL, 5	Distal Myopathy	UNIPROT_DG	26506222		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MYOPATHY, DISTAL, 5	Distal Myopathy	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MYOPATHY, DISTAL, 5	Distal Myopathy	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neoplasms	Neoplasms	BEFREE	19603421		★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia vera	Pubtator	17624250	Associate	★☆☆☆☆ Found in Text Mining only
Upper limb amyotrophy	Limb amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only