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ADSSL1 adenylosuccinate synthase like 1 [ Homo sapiens (human) ]

Gene ID: 122622, updated on 8-May-2016
Official Symbol
ADSSL1provided by HGNC
Official Full Name
adenylosuccinate synthase like 1provided by HGNC
Primary source
HGNC:HGNC:20093
See related
Ensembl:ENSG00000185100 HPRD:12433; MIM:612498; Vega:OTTHUMG00000170818
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
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]
Orthologs
Location:
14q32.33
Exon count:
16
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 14 NC_000014.9 (104724197..104747325)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (105190534..105213662)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene inverted formin, FH2 and WH2 domain containing Neighboring gene uncharacterized LOC388022 Neighboring gene uncharacterized LOC105370696 Neighboring gene SIVA1 apoptosis inducing factor Neighboring gene uncharacterized LOC102723342 Neighboring gene AKT serine/threonine kinase 1

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ38602

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTP binding NAS
Non-traceable Author Statement
more info
PubMed 
GTPase activity IEA
Inferred from Electronic Annotation
more info
 
actin filament binding IEA
Inferred from Electronic Annotation
more info
 
adenylosuccinate synthase activity EXP
Inferred from Experiment
more info
PubMed 
adenylosuccinate synthase activity IDA
Inferred from Direct Assay
more info
PubMed 
magnesium ion binding IEA
Inferred from Electronic Annotation
more info
 
phosphate ion binding NAS
Non-traceable Author Statement
more info
PubMed 
protein homodimerization activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
'de novo' AMP biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
 
'de novo' AMP biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
AMP biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
IMP metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 
aspartate metabolic process IEA
Inferred from Electronic Annotation
more info
 
cellular response to drug IEA
Inferred from Electronic Annotation
more info
 
cellular response to electrical stimulus IEA
Inferred from Electronic Annotation
more info
 
glutamine metabolic process IEA
Inferred from Electronic Annotation
more info
 
immune system process NAS
Non-traceable Author Statement
more info
PubMed 
purine ribonucleoside monophosphate biosynthetic process TAS
Traceable Author Statement
more info
 
response to muscle activity IEA
Inferred from Electronic Annotation
more info
 
response to starvation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
Preferred Names
adenylosuccinate synthetase isozyme 1
Names
AMPSase 1
IMP--aspartate ligase 1
M-type adenylosuccinate synthetase
adSS 1
adenylosuccinate synthetase, basic isozyme
adenylosuccinate synthetase, muscle isozyme
NP_689541.1
NP_954634.1

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)

  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/Swiss-Prot
    Q8N142
    UniProtKB/TrEMBL
    B3KTV4
    Conserved Domains (1) summary
    pfam00709
    Location:1249
    Adenylsucc_synt; Adenylosuccinate synthetase
  2. NM_152328.4NP_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)
    AJ573490, BC047904
    Consensus CDS
    CCDS9990.1
    UniProtKB/Swiss-Prot
    Q8N142
    Related
    ENSP00000331260, OTTHUMP00000244483, ENST00000330877, OTTHUMT00000410529
    Conserved Domains (1) summary
    cd03108
    Location:33448
    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 ...
  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, OTTHUMP00000244484, ENST00000332972, OTTHUMT00000410531
    Conserved Domains (1) summary
    cd03108
    Location:108491
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p2 Primary Assembly

    Range
    104724197..104747325
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006720026.2XP_006720089.1  

    Conserved Domains (1) summary
    cd03108
    Location:33449
    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 ...
  2. XM_011536413.1XP_011534715.1  

    Conserved Domains (1) summary
    cd03108
    Location:3387
    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 ...
  3. XM_011536412.1XP_011534714.1  

    Conserved Domains (1) summary
    cd03108
    Location:108492
    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 ...
  4. XM_011536414.1XP_011534716.1  

    Conserved Domains (1) summary
    cd03108
    Location:2386
    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 ...
  5. XM_011536415.1XP_011534717.1  

    Conserved Domains (1) summary
    pfam00709
    Location:1249
    Adenylsucc_synt; Adenylosuccinate synthetase

Alternate CHM1_1.1

Genomic

  1. NC_018925.2 Alternate CHM1_1.1

    Range
    105128295..105151263
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)