ADSSL1 (gene)

ADSS1
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2GJO
Identifiers
Aliases	ADSS1, adenylosuccinate synthase like 1, MPD5, adenylosuccinate synthase 1, ADSSL1
External IDs	OMIM: 612498 MGI: 87947 HomoloGene: 111992 GeneCards: ADSS1
Gene location (Human)
Chr.	Chromosome 14 (human)
End	104,747,325 bp
Gene location (Mouse)
Chr.	Chromosome 12 (mouse)
End	112,607,794 bp
RNA expression pattern
	Top expressed in
	vastus lateralis muscle; ; tibialis anterior muscle; ; biceps brachii; ; deltoid muscle; ; gastrocnemius muscle; ; body of tongue; ; popliteal artery; ; right ventricle; ; ascending aorta; ; sperm;
	Top expressed in
	triceps brachii muscle; ; ankle; ; extensor digitorum longus muscle; ; sternocleidomastoid muscle; ; vastus lateralis muscle; ; temporal muscle; ; gastrocnemius muscle; ; plantaris muscle; ; digastric muscle; ; tibialis anterior muscle;
	More reference expression data
	n/a
Gene ontology
Molecular function	phosphate ion binding; nucleotide binding; protein homodimerization activity; GTP binding; metal ion binding; actin filament binding; ligase activity; GTPase activity; adenylosuccinate synthase activity; magnesium ion binding;
Cellular component	cytoplasm; cytosol;
Biological process	purine nucleotide biosynthetic process; aspartate metabolic process; immune system process; 'de novo' AMP biosynthetic process; glutamine metabolic process; purine ribonucleoside monophosphate biosynthetic process; response to starvation; IMP metabolic process; AMP biosynthetic process; purine nucleotide metabolic process; response to muscle activity; cellular response to electrical stimulus;
	Sources:Amigo / QuickGO
Orthologs
	122622
	11565
	ENSG00000185100
	ENSMUSG00000011148
	Q8N142
	P28650
	NM_152328; NM_199165; NM_001320424
	NM_007421
	NP_001307353; NP_689541; NP_954634
	NP_031447
	Wikidata
View/Edit Human	View/Edit Mouse

Adenylosuccinate synthase like 1 is a protein that in humans is encoded by the ADSS1 gene. ^[5]

Function

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 monophosphate (AMP). Mutations in this gene may cause adolescent onset distal myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016].

Currently there is no treatment for the distal myopathy caused by the mutation in ADSSL1 gene. However, a non-profit foundation (Cure-ADSSL1.org) ^[6] is currently working with a team of researchers to find a cure. Refer to the link below to find more information about this foundation.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000185100 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000011148 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Entrez Gene: Adenylosuccinate synthase like 1". Retrieved 2018-04-09.
↑ "Cure ADSSL1". Retrieved 2022-01-30.

Sun H, Li N, Wang X, Chen T, Shi L, Zhang L, Wang J, Wan T, Cao X (January 2005). "Molecular cloning and characterization of a novel muscle adenylosuccinate synthetase, AdSSL1, from human bone marrow stromal cells". Mol. Cell. Biochem. 269 (1–2): 85–94. doi:10.1007/s11010-005-2539-9. PMID 15786719. S2CID 23759463.
Park HJ, Hong YB, Choi YC, Lee J, Kim EJ, Lee JS, Mo WM, Ki SM, Kim HI, Kim HJ, Hyun YS, Hong HD, Nam K, Jung SC, Kim SB, Kim SH, Kim DH, Oh KW, Kim SH, Yoo JH, Lee JE, Chung KW, Choi BO (February 2016). "ADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathy". Ann. Neurol. 79 (2): 231–43. doi:10.1002/ana.24550. PMID 26506222.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000185100 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000011148 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: Adenylosuccinate synthase like 1". Retrieved 2018-04-09.

[Cure_ADSSL1-6] "Cure ADSSL1". Retrieved 2022-01-30.

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Function

References

Further reading