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    ADSS1 adenylosuccinate synthase 1 [ Homo sapiens (human) ]

    Gene ID: 122622, updated on 5-Mar-2024

    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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    Location:
    14q32.33
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (104724229..104747325)
    RS_2023_10 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 H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105143817-105144373 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6189 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105147161-105147717 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9120 Neighboring gene microRNA 4710 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105153949-105154936 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105154937-105155926 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6191 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6192 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6193 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105159881-105160868 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:105161956-105162147 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105167789-105168776 Neighboring gene inverted formin 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105172789-105173379 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6194 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105181013-105181952 Neighboring gene skeletal muscle cis-regulatory module in INF2 and ADSSL1 intergenic region Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6195 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105191613-105192313 Neighboring gene uncharacterized LOC124903396 Neighboring gene uncharacterized LOC107984670 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105209535-105210340 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105212701-105213200 Neighboring gene uncharacterized LOC107987209 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9121 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6196 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:105219303-105219804 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105225732-105226680 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105226681-105227627 Neighboring gene SIVA1 apoptosis inducing factor Neighboring gene uncharacterized LOC102723342 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:105233884-105234434 Neighboring gene Sharpr-MPRA regulatory region 15301 Neighboring gene AKT serine/threonine kinase 1

    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 (19) citations in PubMed

    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
    		Compare labs

    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 GTPase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables actin filament binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables adenylosuccinate synthase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 identical protein binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    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
    		  
    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
    		  
    involved_in aspartate metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cellular response to electrical stimulus IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cellular response to xenobiotic stimulus IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in glutamine metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in immune system process NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in response to muscle activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to starvation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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
    XP_054231323.1
    XP_054231324.1
    XP_054231325.1
    XP_054231326.1

    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/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
      Q86TT6, 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: GCF_000001405.40-RS_2023_10

    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)

    mRNA and Protein(s)

    1. XM_054375349.1 → XP_054231324.1  adenylosuccinate synthetase isozyme 1 isoform X2

    2. XM_054375348.1 → XP_054231323.1  adenylosuccinate synthetase isozyme 1 isoform X1

    3. XM_054375351.1 → XP_054231326.1  adenylosuccinate synthetase isozyme 1 isoform X4

    4. XM_054375350.1 → XP_054231325.1  adenylosuccinate synthetase isozyme 1 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N142.1 GenPept UniProtKB/Swiss-Prot:Q8N142

    Gene LinkOut

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