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

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: mouse all

Genomic context

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_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

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

Go to the top of the page Help

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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.
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.
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

Go to the top of the page Help

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Myopathy, distal, 5 MedGen: C4310754 OMIM: 617030 GeneReviews: Not available	not available

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from BioSystems

Go to the top of the page Help

Adenine ribonucleotide biosynthesis, IMP => ADP,ATP, organism-specific biosystem (from KEGG)
Adenine ribonucleotide biosynthesis, IMP => ADP,ATP, organism-specific biosystemPathway module; Nucleotide and amino acid metabolism; Purine metabolism
Adenine ribonucleotide biosynthesis, IMP => ADP,ATP, conserved biosystem (from KEGG)
Adenine ribonucleotide biosynthesis, IMP => ADP,ATP, conserved biosystemPathway module; Nucleotide and amino acid metabolism; Purine metabolism
Alanine, aspartate and glutamate metabolism, organism-specific biosystem (from KEGG)
Alanine, aspartate and glutamate metabolism, organism-specific biosystem
Alanine, aspartate and glutamate metabolism
Alanine, aspartate and glutamate metabolism, conserved biosystem (from KEGG)
Alanine, aspartate and glutamate metabolism, conserved biosystem
Alanine, aspartate and glutamate metabolism
Metabolic pathways, organism-specific biosystem (from KEGG)
Metabolic pathways, organism-specific biosystem
Metabolic pathways
Metabolism, organism-specific biosystem (from REACTOME)
Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
Metabolism of nucleotides, organism-specific biosystem (from REACTOME)
Metabolism of nucleotides, organism-specific biosystemNucleotides and their derivatives are used for short-term energy storage (ATP, GTP), for intra- and extra-cellular signaling (cAMP; adenosine), as enzyme cofactors (NAD, FAD), and for the synthesis o...
Purine metabolism, organism-specific biosystem (from KEGG)
Purine metabolism, organism-specific biosystem
Purine metabolism
Purine metabolism, organism-specific biosystem (from REACTOME)
Purine metabolism, organism-specific biosystemThe events of human purine metabolism are conveniently, if somewhat arbitrarily, grouped into four pathways: de novo synthesis of inosine 5'-monophosphate (IMP), the biosynthesis of other purine ribo...
Purine metabolism, conserved biosystem (from KEGG)
Purine metabolism, conserved biosystem
Purine metabolism
Purine ribonucleoside monophosphate biosynthesis, organism-specific biosystem (from REACTOME)
Purine ribonucleoside monophosphate biosynthesis, organism-specific biosystemThe purine ribonucleotide inosine 5'-monophosphate (IMP) is assembled on 5-phospho-alpha-D-ribose 1-diphosphate (PRPP), with atoms derived from aspartate, glutamine, glycine, N10-formyl-tetrahydrofol...
adenosine ribonucleotides de novo biosynthesis, organism-specific biosystem (from BIOCYC)
adenosine ribonucleotides de novo biosynthesis, organism-specific biosystem
adenosine ribonucleotides de novo biosynthesis
purine nucleotides de novo biosynthesis, organism-specific biosystem (from BIOCYC)
purine nucleotides de novo biosynthesis, organism-specific biosystemBackground Purine nucleotides participate in many aspects of cellular metabolism including the structure of DNA and RNA, serving as enzyme cofactors, functioning in cellular signaling, acting as pho...
superpathway of purine nucleotide salvage, organism-specific biosystem (from BIOCYC)
superpathway of purine nucleotide salvage, organism-specific biosystemBackground Purine nucleotides participate in many aspects of cellular metabolism including the structure of DNA and RNA, serving as enzyme cofactors, functioning in cellular signaling, acting as pho...

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

G19662 (e-PCR)
- UniSTS:35600

A001U22 (e-PCR)
- UniSTS:35601

SGC32943 (e-PCR)
- UniSTS:20504

Homology

Homologs of the ADSSL1 gene: The ADSSL1 gene is conserved in Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, S.cerevisiae, K.lactis, E.gossypii, S.pombe, M.oryzae, N.crassa, A.thaliana, rice, and frog.
Orthologs from Annotation Pipeline: 216 organisms have orthologs with human gene ADSSL1
The Hierarchical Catalog of Orthologs

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

Go to the top of the page Help

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

EC 6.3.4.4

NP_689541.1

EC 6.3.4.4

NP_954634.1

EC 6.3.4.4

XP_006720089.1

EC 6.3.4.4

XP_011534714.1

EC 6.3.4.4

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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

NG_051175.1 RefSeqGene

Range

5001..28129

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
NM_152328.4 → 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)

AJ573490, BC047904

Consensus CDS

CCDS9990.1

UniProtKB/Swiss-Prot

Q8N142

Related

ENSP00000331260.2, OTTHUMP00000244483, ENST00000330877.6, OTTHUMT00000410529

Conserved Domains (1) summary

pfam00709
Location:35 → 454

Adenylsucc_synt; Adenylosuccinate synthetase
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, OTTHUMP00000244484, ENST00000332972.9, OTTHUMT00000410531

Conserved Domains (1) summary

pfam00709
Location:108 → 497

Adenylsucc_synt; Adenylosuccinate synthetase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...

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

Reference GRCh38.p12 Primary Assembly

Genomic

NC_000014.9 Reference GRCh38.p12 Primary Assembly

Range

104724197..104747325

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Conserved Domains (1) summary

pfam00709
Location:35 → 455

Adenylsucc_synt; Adenylosuccinate synthetase
XM_011536412.2 → XP_011534714.1 adenylosuccinate synthetase isozyme 1 isoform X1

Conserved Domains (1) summary

pfam00709
Location:108 → 498

Adenylsucc_synt; Adenylosuccinate synthetase