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ADSS1 adenylosuccinate synthase 1 [ Homo sapiens (human) ]

Gene ID: 122622, updated on 30-Dec-2022

Summary

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Official Symbol
ADSS1provided by HGNC
Official Full Name
adenylosuccinate synthase 1provided by HGNC
Primary source
HGNC:HGNC:20093
See related
Ensembl:ENSG00000185100 MIM:612498; AllianceGenome:HGNC:20093
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
MPD5; ADSSL1
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 monophosphate (AMP). Mutations in this gene may cause adolescent onset distal myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
Expression
Biased expression in heart (RPKM 30.6), kidney (RPKM 9.0) and 12 other tissues See more
Orthologs
mouse all
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Genomic context

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See ADSS1 in Genome Data Viewer
Location:
14q32.33
Exon count:
16
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (104724229..104747325)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (98967108..98990211)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (105190566..105213662)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene microRNA 4710 Neighboring gene inverted formin 2 Neighboring gene skeletal muscle cis-regulatory module in INF2 and ADSSL1 intergenic region Neighboring gene uncharacterized LOC124903396 Neighboring gene uncharacterized LOC107984670 Neighboring gene uncharacterized LOC107987209 Neighboring gene SIVA1 apoptosis inducing factor Neighboring gene uncharacterized LOC102723342 Neighboring gene Sharpr-MPRA regulatory region 15301

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. ADSSL1 myopathy is the most common nemaline myopathy in Japan with variable clinical features. Saito Y, et al. Neurology, 2020 Sep 15. PMID 32646962
  2. Distal myopathy with ADSSL1 mutations in Korean patients. Park HJ, et al. Neuromuscul Disord, 2017 May. PMID 28268051
  3. Beta-amyloid toxicity modifier genes and the risk of Alzheimer's disease. Rosenthal SL, et al. Am J Neurodegener Dis, 2012. PMID 22984654, Free PMC Article
  4. ADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathy. Park HJ, et al. Ann Neurol, 2016 Feb. PMID 26506222
  5. Recombinant mouse muscle adenylosuccinate synthetase: overexpression, kinetics, and crystal structure. Iancu CV, et al. J Biol Chem, 2001 Nov 9. PMID 11560929

See all (18) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. ADSSL1 myopathy is the most common nemaline myopathy in Japan with variable clinical features.
    Title: ADSSL1 myopathy is the most common nemaline myopathy in Japan with variable clinical features.
  2. Study investigated the clinical manifestation in Korean patients with ADSSL1 mutations. Patients with ADSSL1 mutations demonstrated distal muscle weakness in adolescence, followed by quadriceps muscle weakness in the early 30s. All patients had mild facial weakness and two patients complained of easy fatigue while eating and chewing. Muscle biopsies and whole body muscle MR imaging findings are discussed.
    Title: Distal myopathy with ADSSL1 mutations in Korean patients.
  3. Mutations in ADSSL1 are the novel genetic cause of autosomal recessive adolescent onset distal myopathy.
    Title: ADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathy.
  4. A novel muscle isozyme of adenylosuccinate synthetase, human AdSSL1, is identified from human bone marrow stromal cells.
    Title: Molecular cloning and characterization of a novel muscle adenylosuccinate synthetase, AdSSL1, from human bone marrow stromal cells.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Myopathy, distal, 5
MedGen: C5567521 OMIM: 617030 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ38602

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTP binding NAS
Non-traceable Author Statement
more info
 PubMed 
enables adenylosuccinate synthase activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables adenylosuccinate synthase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables adenylosuccinate synthase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables magnesium ion binding IEA
Inferred from Electronic Annotation
more info
  
enables phosphate ion binding NAS
Non-traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in 'de novo' AMP biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in 'de novo' AMP biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in AMP biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in IMP metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in immune system process NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
adenylosuccinate synthetase isozyme 1
Names
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 synthetase-like 1
NP_001307353.1
NP_689541.1
NP_954634.1
XP_006720089.1
XP_011534714.1
XP_047286872.1
XP_047286873.1

NCBI Reference Sequences (RefSeq)

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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.

Genomic

  1. NG_051175.1 RefSeqGene

    Range
    5033..28114
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001320424.1 → NP_001307353.1  adenylosuccinate synthetase isozyme 1 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start site compared to variant 1. The encoded isoform (3) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AJ573490, AK096720, BC047904, HY011538
    UniProtKB/Swiss-Prot
    Q8N142
    UniProtKB/TrEMBL
    B3KTV4
    Conserved Domains (1) summary
    pfam00709
    Location:6 → 249
    Adenylsucc_synt; Adenylosuccinate synthetase

  2. NM_152328.5 → NP_689541.1  adenylosuccinate synthetase isozyme 1 isoform 2

    See identical proteins and their annotated locations for NP_689541.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region and represents use of an alternate promoter, compared to variant 1. These differences result in a protein (isoform 2) with a shorter and distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    BC047904
    Consensus CDS
    CCDS9990.1
    UniProtKB/Swiss-Prot
    Q8N142, Q8N714
    Related
    ENSP00000331260.2, ENST00000330877.7
    Conserved Domains (1) summary
    pfam00709
    Location:34 → 454
    Adenylsucc_synt; Adenylosuccinate synthetase

  3. NM_199165.2 → NP_954634.1  adenylosuccinate synthetase isozyme 1 isoform 1

    See identical proteins and their annotated locations for NP_954634.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AJ573490, AK096720, BC047904, HY011538
    Consensus CDS
    CCDS9991.1
    UniProtKB/Swiss-Prot
    Q8N142
    UniProtKB/TrEMBL
    B3KTV4
    Related
    ENSP00000333019.5, ENST00000332972.9
    Conserved Domains (1) summary
    pfam00709
    Location:108 → 497
    Adenylsucc_synt; Adenylosuccinate synthetase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    104724229..104747325
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006720026.4 → XP_006720089.1  adenylosuccinate synthetase isozyme 1 isoform X2

    Conserved Domains (1) summary
    pfam00709
    Location:35 → 455
    Adenylsucc_synt; Adenylosuccinate synthetase

  2. XM_011536412.3 → XP_011534714.1  adenylosuccinate synthetase isozyme 1 isoform X1

    Conserved Domains (1) summary
    smart00788
    Location:108 → 498
    Adenylsucc_synt; Adenylosuccinate synthetase

  3. XM_047430917.1 → XP_047286873.1  adenylosuccinate synthetase isozyme 1 isoform X4

  4. XM_047430916.1 → XP_047286872.1  adenylosuccinate synthetase isozyme 1 isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    98967108..98990211
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8N142.1 GenPept UniProtKB/Swiss-Prot:Q8N142

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