2. Gene
  3. ASPH - aspartate beta-hydroxylase Gene

ASPH - aspartate beta-hydroxylase Gene

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

中文名称：天冬氨酸β-羟化酶

种属: Homo sapiens

同用名: AAH; BAH; HAAH; JCTN; FDLAB; junctin; CASQ2BP1

基因 ID: 444 | 基因类型: protein coding

关于 ASPH

Cytogenetic location: 8q12.3 Genomic coordinates (GRCh38): 8:61,500,556-61,714,592 (from NCBI)

This gene has 30 transcripts (splice variants), 208 orthologues, 2 paralogues and is associated with 4 phenotypes. Broad expression in fat (RPKM 85.5), adrenal (RPKM 27.8) and 21 other tissues.

功能概要

该基因被认为在钙稳态中发挥重要作用。该基因由两个启动子表达，并进行广泛的选择性剪接。编码的蛋白质组在其 N 末端附近共享不同数量的重叠，但在其 C 末端结构域中具有显着差异，从而导致不同的功能特性。最长的同种型 (a 和 f) 包括一个 C 端天冬氨酰/天冬氨酰 β-羟化酶结构域，该结构域羟基化某些蛋白质的表皮生长因子 (EGF) 样结构域中的天冬氨酸或天冬酰胺残基，包括蛋白 C、凝血因子 VII、 IX 和 X，以及补体因子 C1R 和 C1S。其他同工型主要在 C 末端序列上有所不同，并且缺少羟化酶结构域，并且一些已定位于内质网和肌浆网。这些同种型中的一些被发现存在于与 calsequestrin、triadin 和 ryanodine 受体的复合物中，并且已被证明可以调节钙从肌浆网中的释放。一些亚型与转移有关。[RefSeq 提供，2009 年 9 月]

This gene is thought to play an important role in calcium homeostasis. The gene is expressed from two promoters and undergoes extensive alternative splicing. The encoded set of proteins share varying amounts of overlap near their N-termini but have substantial variations in their C-terminal domains resulting in distinct functional properties. The longest isoforms (a and f) include a C-terminal Aspartyl/Asparaginyl beta-hydroxylase domain that hydroxylates aspartic acid or asparagine residues in the epidermal growth factor (EGF)-like domains of some proteins, including protein C, coagulation factors VII, IX, and X, and the complement factors C1R and C1S. Other isoforms differ primarily in the C-terminal sequence and lack the hydroxylase domain, and some have been localized to the endoplasmic and sarcoplasmic reticulum. Some of these isoforms are found in complexes with calsequestrin, triadin, and the ryanodine receptor, and have been shown to regulate calcium release from the sarcoplasmic reticulum. Some isoforms have been implicated in metastasis. [provided by RefSeq, Sep 2009]

ASPH 基因产物(77)

mRNA Protein Name
NM_001164750.2 NP_001158222.1 aspartyl/asparaginyl beta-hydroxylase isoform 6
NM_001164751.2 NP_001158223.1 aspartyl/asparaginyl beta-hydroxylase isoform 7
NM_001164752.2 NP_001158224.1 aspartyl/asparaginyl beta-hydroxylase isoform 8
NM_001164753.2 NP_001158225.1 aspartyl/asparaginyl beta-hydroxylase isoform 9
NM_001164754.2 NP_001158226.1 aspartyl/asparaginyl beta-hydroxylase isoform 10
NM_001164755.2 NP_001158227.1 aspartyl/asparaginyl beta-hydroxylase isoform 11
NM_001164756.2 NP_001158228.1 aspartyl/asparaginyl beta-hydroxylase isoform 12
NM_001413844.1 NP_001400773.1 aspartyl/asparaginyl beta-hydroxylase isoform 13
NM_001413845.1 NP_001400774.1 aspartyl/asparaginyl beta-hydroxylase isoform 14
NM_001413846.1 NP_001400775.1 aspartyl/asparaginyl beta-hydroxylase isoform 15
NM_001413847.1 NP_001400776.1 aspartyl/asparaginyl beta-hydroxylase isoform 16
NM_001413848.1 NP_001400777.1 aspartyl/asparaginyl beta-hydroxylase isoform 17
NM_001413849.1 NP_001400778.1 aspartyl/asparaginyl beta-hydroxylase isoform 1
NM_001413850.1 NP_001400779.1 aspartyl/asparaginyl beta-hydroxylase isoform 18
NM_001413851.1 NP_001400780.1 aspartyl/asparaginyl beta-hydroxylase isoform 18
NM_001413852.1 NP_001400781.1 aspartyl/asparaginyl beta-hydroxylase isoform 19
NM_001413853.1 NP_001400782.1 aspartyl/asparaginyl beta-hydroxylase isoform 20
NM_001413854.1 NP_001400783.1 aspartyl/asparaginyl beta-hydroxylase isoform 21
NM_001413855.1 NP_001400784.1 aspartyl/asparaginyl beta-hydroxylase isoform 21
NM_001413856.1 NP_001400785.1 aspartyl/asparaginyl beta-hydroxylase isoform 21
NM_001413857.1 NP_001400786.1 aspartyl/asparaginyl beta-hydroxylase isoform 22
NM_001413858.1 NP_001400787.1 aspartyl/asparaginyl beta-hydroxylase isoform 23
NM_001413859.1 NP_001400788.1 aspartyl/asparaginyl beta-hydroxylase isoform 23
NM_001413860.1 NP_001400789.1 aspartyl/asparaginyl beta-hydroxylase isoform 24
NM_001413861.1 NP_001400790.1 aspartyl/asparaginyl beta-hydroxylase isoform 25
NM_001413862.1 NP_001400791.1 aspartyl/asparaginyl beta-hydroxylase isoform 26
NM_001413863.1 NP_001400792.1 aspartyl/asparaginyl beta-hydroxylase isoform 27
NM_001413864.1 NP_001400793.1 aspartyl/asparaginyl beta-hydroxylase isoform 6
NM_001413865.1 NP_001400794.1 aspartyl/asparaginyl beta-hydroxylase isoform 6
NM_001413866.1 NP_001400795.1 aspartyl/asparaginyl beta-hydroxylase isoform 6
NM_001413867.1 NP_001400796.1 aspartyl/asparaginyl beta-hydroxylase isoform 28
NM_001413868.1 NP_001400797.1 aspartyl/asparaginyl beta-hydroxylase isoform 28
NM_001413869.1 NP_001400798.1 aspartyl/asparaginyl beta-hydroxylase isoform 29
NM_001413870.1 NP_001400799.1 aspartyl/asparaginyl beta-hydroxylase isoform 30
NM_001413871.1 NP_001400800.1 aspartyl/asparaginyl beta-hydroxylase isoform 31
NM_001413872.1 NP_001400801.1 aspartyl/asparaginyl beta-hydroxylase isoform 31
NM_001413873.1 NP_001400802.1 aspartyl/asparaginyl beta-hydroxylase isoform 32
NM_001413874.1 NP_001400803.1 aspartyl/asparaginyl beta-hydroxylase isoform 33
NM_001413875.1 NP_001400804.1 aspartyl/asparaginyl beta-hydroxylase isoform 34
NM_001413876.1 NP_001400805.1 aspartyl/asparaginyl beta-hydroxylase isoform 35
NM_001413877.1 NP_001400806.1 aspartyl/asparaginyl beta-hydroxylase isoform 35
NM_001413878.1 NP_001400807.1 aspartyl/asparaginyl beta-hydroxylase isoform 36
NM_001413879.1 NP_001400808.1 aspartyl/asparaginyl beta-hydroxylase isoform 37
NM_001413880.1 NP_001400809.1 aspartyl/asparaginyl beta-hydroxylase isoform 38
NM_001413881.1 NP_001400810.1 aspartyl/asparaginyl beta-hydroxylase isoform 39
NM_001413882.1 NP_001400811.1 aspartyl/asparaginyl beta-hydroxylase isoform 40
NM_001413883.1 NP_001400812.1 aspartyl/asparaginyl beta-hydroxylase isoform 41
NM_001413884.1 NP_001400813.1 aspartyl/asparaginyl beta-hydroxylase isoform 42
NM_001413885.1 NP_001400814.1 aspartyl/asparaginyl beta-hydroxylase isoform 43
NM_001413886.1 NP_001400815.1 aspartyl/asparaginyl beta-hydroxylase isoform 44
NM_001413887.1 NP_001400816.1 aspartyl/asparaginyl beta-hydroxylase isoform 44
NM_001413888.1 NP_001400817.1 aspartyl/asparaginyl beta-hydroxylase isoform 45
NM_001413889.1 NP_001400818.1 aspartyl/asparaginyl beta-hydroxylase isoform 46
NM_001413890.1 NP_001400819.1 aspartyl/asparaginyl beta-hydroxylase isoform 47
NM_001413891.1 NP_001400820.1 aspartyl/asparaginyl beta-hydroxylase isoform 48
NM_001413893.1 NP_001400822.1 aspartyl/asparaginyl beta-hydroxylase isoform 49
NM_001413894.1 NP_001400823.1 aspartyl/asparaginyl beta-hydroxylase isoform 50
NM_001413895.1 NP_001400824.1 aspartyl/asparaginyl beta-hydroxylase isoform 51
NM_001413896.1 NP_001400825.1 aspartyl/asparaginyl beta-hydroxylase isoform 52
NM_001413897.1 NP_001400826.1 aspartyl/asparaginyl beta-hydroxylase isoform 53
NM_001413898.1 NP_001400827.1 aspartyl/asparaginyl beta-hydroxylase isoform 54
NM_001413899.1 NP_001400828.1 aspartyl/asparaginyl beta-hydroxylase isoform 55
NM_001413900.1 NP_001400829.1 aspartyl/asparaginyl beta-hydroxylase isoform 56
NM_001413901.1 NP_001400830.1 aspartyl/asparaginyl beta-hydroxylase isoform 58
NM_001413902.1 NP_001400831.1 aspartyl/asparaginyl beta-hydroxylase isoform 2
NM_001413903.1 NP_001400832.1 aspartyl/asparaginyl beta-hydroxylase isoform 59
NM_001413904.1 NP_001400833.1 aspartyl/asparaginyl beta-hydroxylase isoform 60
NM_001413905.1 NP_001400834.1 aspartyl/asparaginyl beta-hydroxylase isoform 61
NM_001413906.1 NP_001400835.1 aspartyl/asparaginyl beta-hydroxylase isoform 62
NM_001413907.1 NP_001400836.1 aspartyl/asparaginyl beta-hydroxylase isoform 63
NM_001413908.1 NP_001400837.1 aspartyl/asparaginyl beta-hydroxylase isoform 64
NM_001413909.1 NP_001400838.1 aspartyl/asparaginyl beta-hydroxylase isoform 57
NM_004318.4 NP_004309.2 aspartyl/asparaginyl beta-hydroxylase isoform 1
NM_020164.5 NP_064549.1 aspartyl/asparaginyl beta-hydroxylase isoform 5
NM_032466.4 NP_115855.1 aspartyl/asparaginyl beta-hydroxylase isoform 3
NM_032467.4 NP_115856.1 aspartyl/asparaginyl beta-hydroxylase isoform 4
NM_032468.5 NP_115857.1 aspartyl/asparaginyl beta-hydroxylase isoform 2
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 calcium ion binding IDA
IDA: 通过直接分析推断
22586105 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
21062895 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in activation of cysteine-type endopeptidase activity IDA
IDA: 通过直接分析推断
18387192 GOA
involved in activation of store-operated calcium channel activity IDA
IDA: 通过直接分析推断
22586105 GOA
involved in calcium ion homeostasis IDA
IDA: 通过直接分析推断
15302852 GOA
involved in calcium ion transmembrane transport IDA
IDA: 通过直接分析推断
21062895 GOA
involved in cellular response to calcium ion IDA
IDA: 通过直接分析推断
21062895 GOA
involved in positive regulation of DNA-templated transcription IMP
IMP: 通过突变表型推断
22586105 GOA
involved in positive regulation of calcium ion transport into cytosol IDA
IDA: 通过直接分析推断
21062895 GOA
involved in positive regulation of intracellular protein transport IDA
IDA: 通过直接分析推断
22586105 GOA
involved in positive regulation of proteolysis IDA
IDA: 通过直接分析推断
18387192 GOA
involved in regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity IDA
IDA: 通过直接分析推断
21062895 GOA
involved in response to ATP IDA
IDA: 通过直接分析推断
21062895 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cortical endoplasmic reticulum IDA
IDA: 通过直接分析推断
21062895 GOA
located in endoplasmic reticulum membrane IDA
IDA: 通过直接分析推断
22586105 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
21062895 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

ASPH 蛋白结构

Asp-B-Hydro_N

Asp-B-Hydro_N: Aspartyl beta-hydroxylase N-terminal region (43 - 310)

TPR_16

TPR_16: Tetratricopeptide repeat (345 - 402)

Asp_Arg_Hydrox

Asp_Arg_Hydrox: Aspartyl/Asparaginyl beta-hydroxylase (590 - 746)

  • 0
  • 200
  • 400
  • 600
  • 758 a.a.
蛋白主名 其他名称

aspartyl/asparaginyl beta-hydroxylase

A beta H-J-J

重组 ASPH 蛋白

目录号 产品名 蛋白编号 纯度
HY-P72092 ASPH Protein, Human (His-SUMO) Q12797 (F75-T270) ≥95%

关联疾病

疾病名称 别名
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs

Traboulsi Syndrome

Ectopia Lentis, Spontaneous Filtering Blebs, And Craniofacial Dysmorphism

Facial Dysmorphism-Lens Dislocation-Anterior Segment Abnormalities-Spontaneous Filtering Blebs Syndrome

FDLAB

Shawaf-Traboulsi Syndrome

Fdlab Syndrome

Facial Dysmorphism-Lens Dislocation-Anterior Segment Abnormalities-Nontraumatic Conjunctive Cysts Syndrome
Exercise-Induced Malignant Hyperthermia

Exertional Heat Stroke
Malignant Hyperthermia

Anesthesia Related Hyperthermia

Malignant Hyperpyrexia Due To Anesthesia

Hyperpyrexia, Malignant

Hyperthermia, Malignant

Malignant Hyperpyrexia

Mhs

Malignant Fever
Malignant Hyperthermia Susceptibility

Malignant Hyperpyrexia

Hyperthermia, Malignant, Susceptibility

Malignant Hyperpyrexia Due To Anesthesia
Malignant Hyperthermia Of Anesthesia

Hyperthermia Of Anesthesia
Malignant Hyperthermia 1

Malignant Hyperthermia, Susceptibility To, 1

Hyperthermia Of Anesthesia

MHS1

Hyperpyrexia, Malignant

Mh

Malignant Hyperthermia Susceptibility 1

Malignant Hyperthermia Susceptibility Type 1

Mhs

Hyperthermia, Malignant, Susceptibility, Type 1

Malignant Hyperpyrexia Due To Anesthesia

King Denborough Syndrome
Catecholaminergic Polymorphic Ventricular Tachycardia

Cpvt

Catecholamine-Induced Polymorphic Ventricular Tachycardia

Familial Polymorphic Ventricular Tachycardia

Malignant Paroxysmal Ventricular Tachycardia

Multifocal Ventricular Premature Beats

Stress-Induced Polymorphic Ventricular Tachycardia

Bidirectional Tachycardia Induced By Catecholamine

Double Tachycardia Induced By Catecholamines

Polymorphic Catecholergic Ventricular Tachycardia

Syncopal Paroxysmal Tachycardia

Bidirectional Tachycardia Induced By Catecholamines

Fpvt

Bidirectional Ventricular Tachycardia Induced By Catecholamine

Polymorphic Ventricular Tachycardia Induced By Catecholamines

Ventricular Tachycardia, Catecholaminergic Polymorphic

Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

Familial Ventricular Tachycardia

Multifocal Pvcs

Multifocal Premature Ventricular Beats
Regular Astigmatism
Cholangiocarcinoma

Cholangiocarcinoma, Susceptibility To

Extrahepatic Cholangiocarcinoma

Intrahepatic Cholangiocarcinoma

Chlc

Chlc, Susceptibility To

Cc

Cholangiocarcinoma Of Biliary Tract

Cholangiocellular Carcinoma

Distal Cholangiocarcinoma

Perihilar Cholangiocarcinoma

Bile Duct Cancer

Cca

Adult Primary Cholangiocellular Carcinoma

Bile Duct Carcinoma
Central Core Disease Of Muscle

Central Core Disease

Central Core Myopathy

CCD

Cco

Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber

Myopathy, Central Core

Shy-Magee Syndrome

Muscle Core Disease

Muscular Central Core Disease

Myopathy, Central Fibrillar

Shy'S Disease

Moderate Multiminicore Disease With Hand Involvement
Microcephaly 1, Primary, Autosomal Recessive

MCPH1

Premature Chromosome Condensation Syndrome

Pcc Syndrome

Primary Autosomal Recessive Microcephaly 1

Microcephaly, Primary Autosomal Recessive, 1

Premature Chromosome Condensation With Microcephaly And Mental Retardation

Microcephaly Vera

True Microcephaly

Microcephaly, Type 1, Primary, Autosomal Recessive

Autosomal Recessive Primary Microcephaly
Seckel Syndrome 5

SCKL5

Seckel Syndrome, Type 5
Malignant Secondary Hypertension
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

Catecholaminergic Polymorphic Ventricular Tachycardia 2

CPVT2

Vtsip

Bidirectional Tachycardia

Stress-Induced Polymorphic Ventricular Tachycardia

Ventricular Tachycardia, Stress-Induced Polymorphic

Cvpt2

Double Tachycardia Induced By Catecholamines

Malignant Paroxysmal Ventricular Tachycardia

Multifocal Ventricular Premature Beats

Paroxysmal Ventricular Fibrillation

Syncopal Paroxysmal Tachycardia

Syncopal Tachyarythmia

Tachycardia, Ventricular, Catecholaminergic Polymorphic, Type 2

Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

Multifocal Pvcs

Multifocal Premature Ventricular Beats

Paroxysmal Familial Ventricular Fibrillation
Multiminicore Disease

Multiminicore Myopathy

Mmd

Minicore Disease

Minicore Myopathy

Multi-Core Congenital Myopathy

Multi-Core Disease

Multi-Minicore Disease

Multicore Disease

Multicore Myopathy

Minicore Myopathy With External Ophthalmoplegia
Marfan Syndrome

MFS

Mfs1

Marfan'S Syndrome

Marfan Syndrome Type 1

Marfan Syndrome, Type I

Mass Phenotype

Contractural Arachnodactyly

Mass Syndrome

Octd

Overlap Connective Tissue Disease

Marfanoid Hypermobility Syndrome

Marfan Disease
Cartilage-Hair Hypoplasia

Metaphyseal Chondrodysplasia, Mckusick Type

CHH

Mckusick Type Metaphyseal Chondrodysplasia

Metaphyseal Dysplasia Without Hypotrichosis

Cartilage Hair Hypoplasia Like Syndrome

Metaphyseal Chondrodysplasia Mckusick Type

Chhv

Cartilage-Hair Hypoplasia Variant, Skeletal Manifestations Only

Cartilage-Hair Hypoplasia-Like Skeletal Dysplasia Without Hypotrichosis Or Immunodeficiency

Cartilage-Hair Syndrome

Mckusick'S Metaphyseal Chondrodysplasia Syndrome

Metaphyseal Chondrodysplasia, Recessive Type

Autosomal Recessive Metaphyseal Chondrodysplasia
Meier-Gorlin Syndrome 1

Meier-Gorlin Syndrome

Ear, Patella, Short Stature Syndrome

Microtia, Absent Patellae, Micrognathia Syndrome

MGORS1

Eps

Ear-Patella-Short Stature Syndrome

Ear Patella Short Stature Syndrome

Microtia Absent Patellae Micrognathia Syndrome

Meier-Gorlin Syndrome, Type 1
Heart Disease

Heart Failure

Congenital Heart Disease

Heart Diseases

Congenital Heart Defects

Congenital Heart Defect

Heart Malformation

Congenital Anomaly Of Heart

Heart Defect

Heart-Congenital Defect

Congenital Heart Disorder

Heart Defects Congenital

Heart Defects, Congenital

Heart Defects

Heart Disease, Congenital

Disease, Heart, Congenital

Congestive Heart Failure
Myopathy

Muscular Diseases

Myopathies
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 (4)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-10403A (aS)-PH-797804 Inhibitor / 否
HY-146646 Bleomycin A2 / 否
HY-164410 MO-I-1100 Inhibitor / 否
HY-RS01102 ASPH 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 ASPH VGNC VGNC:26219
Macaca mulatta ASPH VGNC VGNC:70166
Rattus norvegicus ASPH RGD RGD:1312000
Felis catus ASPH VGNC VGNC:81667
Mus musculus ASPH MGD MGI:1914186
Canis familiaris ASPH VGNC VGNC:38186
Others ASPH NCBI
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