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

Gene ID: 122622, updated on 12-Aug-2018

Summary

Official Symbol
ADSSL1provided by HGNC
Official Full Name
adenylosuccinate synthase like 1provided by HGNC
Primary source
HGNC:HGNC:20093
See related
Ensembl:ENSG00000185100 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
Also known as
MPD5
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

Genomic context

See ADSSL1 in Genome Data Viewer
Location:
14q32.33
Exon count:
15
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 skeletal muscle cis-regulatory module in INF2 and ADSSL1 intergenic region Neighboring gene uncharacterized LOC107984670 Neighboring gene uncharacterized LOC107987209 Neighboring gene SIVA1 apoptosis inducing factor Neighboring gene uncharacterized LOC102723342 Neighboring gene AKT serine/threonine kinase 1

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
adenylosuccinate synthase activity IDA
Inferred from Direct Assay
more info
PubMed 
adenylosuccinate synthase activity IMP
Inferred from Mutant Phenotype
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
PubMed 
'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
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
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 synthetase, basic isozyme
adenylosuccinate synthetase, muscle isozyme
NP_001307353.1
NP_689541.1
NP_954634.1
XP_006720089.1
XP_011534714.1

NCBI Reference Sequences (RefSeq)

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
    5001..28129
    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/Swiss-Prot
    Q8N142
    UniProtKB/TrEMBL
    B3KTV4
    Conserved Domains (1) summary
    pfam00709
    Location:6249
    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
    ENSP00000331260.2, OTTHUMP00000244483, ENST00000330877.6, OTTHUMT00000410529
    Conserved Domains (1) summary
    pfam00709
    Location:35454
    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, OTTHUMP00000244484, ENST00000332972.9, OTTHUMT00000410531
    Conserved Domains (1) summary
    pfam00709
    Location:108497
    Adenylsucc_synt; Adenylosuccinate synthetase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p12 Primary Assembly

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

mRNA and Protein(s)

  1. XM_006720026.3XP_006720089.1  adenylosuccinate synthetase isozyme 1 isoform X2

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

    Conserved Domains (1) summary
    pfam00709
    Location:108498
    Adenylsucc_synt; Adenylosuccinate synthetase
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