ADSS adenylosuccinate synthase [Homo sapiens] - Gene

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Summary

Official Symbol: ADSSprovided by HGNC
Official Full Name: adenylosuccinate synthaseprovided by HGNC
Primary source: HGNC:292
Locus tag: RP11-518L10.4
See related: Ensembl:ENSG00000035687; HPRD:00050; MIM:103060; Vega:OTTHUMG00000040102
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ADEH; ADSS 2; MGC20404
Summary: This gene encodes the enzyme adenylosuccinate synthetase which catalyzes the first committed step in the conversion of inosine monophosphate to adenosine monophosphate. A pseudogene of this gene is found on chromosome 17.[provided by RefSeq, Nov 2010]

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Genomic context

Location :: 1q44

Sequence :: Chromosome: 1; NC_000001.10 (244571794..244615436, complement)

See ADSS in Epigenomics, MapViewer

Chromosome 1 - NC_000001.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

These findings suggest that the combined effects of the polymorphisms in the ADSS and ATM genes may confer susceptibility to the development of schizophrenia in a Chinese population
Title: Association analyses of the interaction between the ADSS and ATM genes with schizophrenia in a Chinese population.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Association analyses of the interaction between the ADSS and ATM genes with schizophrenia in a Chinese population.
Observational study of gene-disease association. (HuGE Navigator)
Title: An association study of ADSS gene polymorphisms with schizophrenia.
Kinetic data reveal that human Ser(289) and B. subtilis Ser(262) and Ser(263) are essential for catalysis, while the ability of these Ser mutants to bind APBADP suggests that they do not contribute to substrate affinity
Title: Effect of a new non-cleavable substrate analog on wild-type and serine mutants in the signature sequence of adenylosuccinate lyase of Bacillus subtilis and Homo sapiens.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
P30520	P68133	ACTA1	HPRD	PubMed
BioGRID:106668	BioGRID:123745	ATG10	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106668	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
GTP binding	IEA Inferred from Electronic Annotation more info
GTP binding	NAS Non-traceable Author Statement more info	PubMed
adenylosuccinate synthase activity	IDA Inferred from Direct Assay more info	PubMed
adenylosuccinate synthase activity	IEA Inferred from Electronic Annotation more info
adenylosuccinate synthase activity	NAS Non-traceable Author Statement more info	PubMed
ligase activity	IEA Inferred from Electronic Annotation more info
magnesium ion binding	IEA Inferred from Electronic Annotation more info
nucleotide binding	IEA Inferred from Electronic Annotation more info
phosphate ion binding	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
AMP biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
AMP biosynthetic process	NAS Non-traceable Author Statement more info	PubMed
immune system process	NAS Non-traceable Author Statement more info	PubMed
nucleobase-containing small molecule metabolic process	TAS Traceable Author Statement more info
purine base metabolic process	TAS Traceable Author Statement more info
purine nucleotide biosynthetic process	IEA Inferred from Electronic Annotation more info
purine ribonucleoside monophosphate biosynthetic process	TAS Traceable Author Statement more info
small molecule metabolic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
cytoplasm	IEA Inferred from Electronic Annotation more info
cytosol	TAS Traceable Author Statement more info
plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

Preferred Names: adenylosuccinate synthetase isozyme 2

Names: adenylosuccinate synthetase isozyme 2; AMPSase 2; IMP--aspartate ligase 2; L-type adenylosuccinate synthetase; adenylosuccinate synthetase, liver isozyme; adenylosuccinate synthetase, acidic isozyme; adenylosuccinate synthetase (Ade(-)H-complementing)

NP_001117.2

EC 6.3.4.4

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001126.3 → NP_001117.2 adenylosuccinate synthetase isozyme 2

Status: REVIEWED

Source sequence(s)

AL591594, AL645465, BC012356, BE538442, BI559850

Consensus CDS

CCDS1624.1

UniProtKB/Swiss-Prot

P30520

Related

ENSP00000355493, OTTHUMP00000037982, ENST00000366535, OTTHUMT00000096697

Conserved Domains (2) summary

cd03108
Location:30 – 447
Blast Score: 1466

AdSS; Adenylosuccinate synthetase (AdSS) catalyzes the first step in the de novo biosynthesis of AMP. IMP and L-aspartate are conjugated in a two-step reaction accompanied by the hydrolysis of GTP to GDP in the presence of Mg2+. In the first step, the ...

smart00788
Location:30 – 453
Blast Score: 1695

Adenylsucc_synt; Adenylosuccinate synthetase

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000001.10 Reference GRCh37.p5 Primary Assembly

Range

244571794..244615436, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000133.1 Alternate HuRef

Range

214954992..214998619, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL591594.9	CAI14036.1
		CAI14037.1
genomic	AL645465.15	CAI15031.1
genomic	CH471148.1	EAW77102.1
		EAW77103.1
genomic	X66503.1	CAA47123.1
mRNA	AK025514.1	None
mRNA	AK303886.1	BAG64822.1
mRNA	AK308749.1	None
mRNA	BC012356.1	AAH12356.1
mRNA	BE538442.1	None
mRNA	BG700800.1	None
mRNA	BI559850.1	None
other-genetic	EU831433.1	ACE87120.1
other-genetic	EU831525.1	ACE86444.1