2. Gene
  3. ADSS1 - adenylosuccinate synthase 1 Gene

ADSS1 - adenylosuccinate synthase 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：腺苷酸琥珀酸合酶 1

种属: Homo sapiens

同用名: MPD5; ADSSL1

基因 ID: 122622 | 基因类型: protein coding

关于 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.

功能概要

该基因编码腺苷酸琥珀酸合酶蛋白质家族的成员。编码的肌肉特异性酶通过催化肌苷单磷酸 (IMP) 转化为腺苷单磷酸 (AMP) 的第一步，在嘌呤核苷酸循环中发挥作用。该基因的突变可能导致青少年发作的远端肌病。可变剪接导致多个转录本变体。[RefSeq 提供，2016 年 2 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables adenylosuccinate synthase activity IDA
IDA: 通过直接分析推断
15786719 GOA
enables adenylosuccinate synthase activity IMP
IMP: 通过突变表型推断
26506222 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
28514442 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in AMP biosynthetic process IDA
IDA: 通过直接分析推断
15786719 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
15786719 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

ADSS1 蛋白结构

Adenylsucc_synt

Adenylsucc_synt: Adenylosuccinate synthetase (33 - 454)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 457 a.a.
蛋白主名 其他名称

adenylosuccinate synthetase isozyme 1

AMPSase 1

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS00419 ADSS1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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
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