ADSS1 - adenylosuccinate synthase 1 Gene

Also Known as MPD5; ADSSL1

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 122622

About ADSS1

Cytogenetic location: 14q32.33 Genomic coordinates (GRCh38): 14:104,724,229-104,747,325 (from NCBI)

This gene has 12 transcripts (splice variants), 212 orthologues, 1 paralogue and is associated with 2 phenotypes. Biased expression in heart (RPKM 30.6), kidney (RPKM 9.0) and 12 other tissues.

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]

ADSS1 Products (3)

mRNA Protein Name
NM_001320424.1 NP_001307353.1 adenylosuccinate synthetase isozyme 1 isoform 3
NM_152328.5 NP_689541.1 adenylosuccinate synthetase isozyme 1 isoform 2
NM_199165.2 NP_954634.1 adenylosuccinate synthetase isozyme 1 isoform 1

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence 参考文献 由来
enables adenylosuccinate synthase activity IDA
IDA: Inferred from direct assay
15786719 GOA
enables adenylosuccinate synthase activity IMP
IMP: Inferred from mutant phenotype
26506222 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
28514442 GOA
Biological Process GO Annotation Evidence 参考文献 由来
involved in AMP biosynthetic process IDA
IDA: Inferred from direct assay
15786719 GOA
Cellular Component GO Annotation Evidence 参考文献 由来
located in cytoplasm IDA
IDA: Inferred from direct assay
15786719 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ADSS1 Protein Structure

Adenylsucc_synt

Adenylsucc_synt: Adenylosuccinate synthetase (33 - 454)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 457 a.a.
Protein Preferred Names Protein Names

adenylosuccinate synthetase isozyme 1

  • AMPSase 1

関連疾患

Diseases Alias
Myopathy, Distal, 5

  • MPD5

  • Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy

  • Adssl1-Related Distal Myopathy
Fetal Akinesia Deformation Sequence 1

  • Fetal Akinesia Deformation Sequence

  • Fads

  • Fetal Akinesia Sequence

  • FADS1

  • Arthrogryposis Multiplex Congenita With Pulmonary Hypoplasia

  • Pena-Shokeir Syndrome Type 1

  • Fetal Akinesia Deformation Sequence Syndrome

  • Arthrogryposis Multiplex Congenita-Pulmonary Hypoplasia Syndrome

  • Arthrogryposis Multiplex Congenita Pulmonary Hypoplasia

  • Pena-Shokeir Syndrome, Type I

  • Foetal Akinesia Deformation Sequence Syndrome

  • Foetal Akinesia Sequence

  • Fetal Akinesia Deformation Sequence Syndrome 1

  • Pena-Shokeir Syndrome, Type 1

  • Pena Shokeir Syndrome, Type 1

  • Akinesia, Fetal, Deformation Sequence

  • Akinesia, Fetal, Deformation Sequence, Type 1

  • Pena-Shokeir Syndrome Type I
Distal Arthrogryposis

  • Arthrogryposis Multiplex Congenita

  • Arthrogryposis

  • Congenital Multiple Arthrogryposis

  • Congenital Arthromyodysplasia

  • Fibrous Ankylosis Of Multiple Joints

  • Guerin-Stern Syndrome

  • Guérin-Stern Syndrome

  • Myodystrophia Fetalis Deformans

  • Otto Syndrome

  • Rocher-Sheldon Syndrome

  • Rossi Syndrome

  • Amc

  • Multiple Congenital Arthrogryposis

  • Arthrogryposis Syndrome

  • Arthrogryposis, Distal

  • Distal Arthrogryposis Syndrome

  • Freeman-Sheldon Syndrome

  • Arthrogryposis, Distal, Type 2b

  • Congenital Multiplex Arthrogryposis

  • Amyoplasia Congenita

  • Congenital Amyoplasia

  • Amc - [Arthrogryposis Multiplex Congenita]
Lidocaine Allergy

  • Lidoderm Allergy

  • Lignocaine Allergy

  • Xylocaine Allergy
Myopathy, Distal, 4

  • Distal Myopathy With Posterior Leg And Anterior Hand Involvement

  • MPD4

  • Williams Distal Myopathy

  • Distal Muscular Dystrophy 4

  • Distal Abd-Filaminopathy

  • Distal Myopathy 4

  • Myopathy, Distal, Type 4
Myopathy

  • Muscular Diseases

  • Myopathies
Myopathy, Distal, 1

  • Laing Distal Myopathy

  • Laing Early-Onset Distal Myopathy

  • MPD1

  • Distal Myopathy 1

  • Myopathy, Distal, Early-Onset, Autosomal Dominant

  • Distal Myopathy Type 1

  • Gowers Disease

  • Myopathy, Late Distal Hereditary

  • Myopathy Distal, Type 1

  • Myopathy Distal Early-Onset Autosomal Dominant

  • Myopathy Late Distal Hereditary

  • Myopathy, Distal, Type 1

  • Welander Distal Myopathy
Myopathy, Distal, 3

  • MPD3

  • Distal Muscular Dystrophy 3

  • Distal Myopathy Type 3

  • Myopathy, Distal 3

  • Distal Myopathy 3

  • Finnish Upper Limb-Onset Distal Myopathy
Neuropathy, Hereditary Sensory And Autonomic, Type Ia

  • HSAN1A

  • Hsan Ia

  • Hsan1

  • Hsn Ia

  • Hereditary Sensory And Autonomic Neuropathy Type 1a

  • Neuropathy, Hereditary Sensory And Autonomic, Type 1a

  • Neuropathy, Hereditary Sensory, Type Ia

  • Hsn1a

  • Neuropathy, Hereditary Sensory Radicular, Autosomal Dominant, Type 1a

  • Hereditary Sensory And Autonomic Neuropathy Type Ia

  • Neuropathy, Hereditary Sensory And Autonomic, 1a

  • Hereditary Sensory Neuropathy Type Ia

  • Hereditary Sensory Radicular Neuropathy Autosomal Dominant Type 1a

  • Hsn1

  • Neuropathy, Sensory And Autonomic, Hereditary, Type 1a

  • Hereditary Sensory Autonomic Neuropathy, Type 1
Cystoisosporiasis

  • Isosporiasis

  • Infection By Isospora Belli And Isospora Hominis

  • Isosporosis

  • Infection By Isospora Belli Or Isospora Hominis

  • Isospora Belli Or Hominis Infection

  • Coccidial Infestation

  • Coccidiosis

  • Coccidial Dysentery

  • Intestinal Coccidiosis Nos
Muscular Dystrophy, Congenital, Megaconial Type

  • Megaconial Type Congenital Muscular Dystrophy

  • Congenital Megaconial Myopathy

  • Congenital Muscular Dystrophy Due To Phosphatidylcholine Biosynthesis Defect

  • Congenital Muscular Dystrophy With Mitochondrial Structural Abnormalities

  • Megaconial Congenital Muscular Dystrophy

  • MDCMC

  • Muscular Dystrophy, Congenital, With Mitochondrial Structural Abnormalities

  • Megaconial Congénital Muscular Dystrophy

  • Dystrophy, Muscular, Congenital, Megaconial Type
Congenital Fiber-Type Disproportion

  • Congenital Fiber Type Disproportion

  • Cftdm

  • Congenital Myopathy With Fiber Type Disproportion

  • Cftd

  • Congenital Fiber-Type Disproportion Myopathy

  • Fiber-Type Disproportion Myopathy, Congenital

  • Myopathy, Congenital With Fiber-Type Disproportion
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
製品番号 製品名
製品効果
純度
Rare Diseases
HY-RS00419 ADSS1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

生物種 Symbol 由来 ID
Bos taurus ADSS1 VGNC VGNC:25701
Mus musculus ADSS1 MGD MGI:87947
Canis familiaris ADSS1 VGNC VGNC:50440
Macaca mulatta ADSS1 VGNC VGNC:69644
Felis catus ADSS1 VGNC VGNC:104355
Rattus norvegicus ADSS1 RGD RGD:1590342
Others ADSS1 NCBI