ADSS1 adenylosuccinate synthase 1 [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

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_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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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 Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G19662 (e-PCR)
- UniSTS:35600

A001U22 (e-PCR)
- UniSTS:35601

SGC32943 (e-PCR)
- UniSTS:20504

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

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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

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

XP_047286872.1

EC 6.3.4.4

XP_047286873.1

EC 6.3.4.4

XP_054231323.1

EC 6.3.4.4

XP_054231324.1

EC 6.3.4.4

XP_054231325.1

EC 6.3.4.4

XP_054231326.1

EC 6.3.4.4

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

NG_051175.1 RefSeqGene

Range

5033..28114

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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/TrEMBL

B3KTV4

Conserved Domains (1) summary

pfam00709
Location:6 → 249

Adenylsucc_synt; Adenylosuccinate synthetase
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
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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000014.9 Reference GRCh38.p14 Primary Assembly

Range

104724229..104747325

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006720026.4 → XP_006720089.1 adenylosuccinate synthetase isozyme 1 isoform X2

Conserved Domains (1) summary

pfam00709
Location:35 → 455

Adenylsucc_synt; Adenylosuccinate synthetase
XM_011536412.3 → XP_011534714.1 adenylosuccinate synthetase isozyme 1 isoform X1

Conserved Domains (1) summary

smart00788
Location:108 → 498

Adenylsucc_synt; Adenylosuccinate synthetase
XM_047430917.1 → XP_047286873.1 adenylosuccinate synthetase isozyme 1 isoform X4
XM_047430916.1 → XP_047286872.1 adenylosuccinate synthetase isozyme 1 isoform X3

Alternate T2T-CHM13v2.0

Genomic

NC_060938.1 Alternate T2T-CHM13v2.0

Range

98967108..98990211

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054375349.1 → XP_054231324.1 adenylosuccinate synthetase isozyme 1 isoform X2
XM_054375348.1 → XP_054231323.1 adenylosuccinate synthetase isozyme 1 isoform X1
XM_054375351.1 → XP_054231326.1 adenylosuccinate synthetase isozyme 1 isoform X4
XM_054375350.1 → XP_054231325.1 adenylosuccinate synthetase isozyme 1 isoform X3