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ADSS1 adenylosuccinate synthase 1 [ Homo sapiens (human) ]

Gene ID: 122622, updated on 19-Sep-2024

Summary

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
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Genomic context

See ADSS1 in Genome Data Viewer
Location:
14q32.33
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (104724229..104747325)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (98967108..98990211)
RS_2024_09 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 inverted formin 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:105161956-105162147 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:105167789-105168776 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

Expression

  • Project title: HPA RNA-seq normal tissues 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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 
enables protein binding IPI
Inferred from Physical Interaction
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

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_001320424.1NP_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:6249
    Adenylsucc_synt; Adenylosuccinate synthetase
  2. NM_152328.5NP_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:34454
    Adenylsucc_synt; Adenylosuccinate synthetase
  3. NM_199165.2NP_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:108497
    Adenylsucc_synt; Adenylosuccinate synthetase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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_006720026.4XP_006720089.1  adenylosuccinate synthetase isozyme 1 isoform X2

    Conserved Domains (1) summary
    pfam00709
    Location:35455
    Adenylsucc_synt; Adenylosuccinate synthetase
  2. XM_011536412.3XP_011534714.1  adenylosuccinate synthetase isozyme 1 isoform X1

    Conserved Domains (1) summary
    smart00788
    Location:108498
    Adenylsucc_synt; Adenylosuccinate synthetase
  3. XM_047430917.1XP_047286873.1  adenylosuccinate synthetase isozyme 1 isoform X4

  4. XM_047430916.1XP_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_054375349.1XP_054231324.1  adenylosuccinate synthetase isozyme 1 isoform X2

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

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

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