ASPH - aspartate beta-hydroxylase Gene

Also Known as AAH; BAH; HAAH; JCTN; FDLAB; junctin; CASQ2BP1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 444

About 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.

Summary

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 Products (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

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Verweise Source
enables calcium ion binding IDA
IDA: Inferred from direct assay
22586105 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
21062895 GOA
Biological Process GO Annotation Evidence Verweise Source
involved in activation of cysteine-type endopeptidase activity IDA
IDA: Inferred from direct assay
18387192 GOA
involved in activation of store-operated calcium channel activity IDA
IDA: Inferred from direct assay
22586105 GOA
involved in calcium ion homeostasis IDA
IDA: Inferred from direct assay
15302852 GOA
involved in calcium ion transmembrane transport IDA
IDA: Inferred from direct assay
21062895 GOA
involved in cellular response to calcium ion IDA
IDA: Inferred from direct assay
21062895 GOA
involved in positive regulation of DNA-templated transcription IMP
IMP: Inferred from mutant phenotype
22586105 GOA
involved in positive regulation of calcium ion transport into cytosol IDA
IDA: Inferred from direct assay
21062895 GOA
involved in positive regulation of intracellular protein transport IDA
IDA: Inferred from direct assay
22586105 GOA
involved in positive regulation of proteolysis IDA
IDA: Inferred from direct assay
18387192 GOA
involved in regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity IDA
IDA: Inferred from direct assay
21062895 GOA
involved in response to ATP IDA
IDA: Inferred from direct assay
21062895 GOA
Cellular Component GO Annotation Evidence Verweise Source
located in cortical endoplasmic reticulum IDA
IDA: Inferred from direct assay
21062895 GOA
located in endoplasmic reticulum membrane IDA
IDA: Inferred from direct assay
22586105 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
21062895 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

ASPH Protein Structure

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.
Protein Preferred Names Protein Names

aspartyl/asparaginyl beta-hydroxylase

  • A beta H-J-J

ASPH Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Verweise
Intra
ASPH Q12797 GET3 Homo sapiens O43681
Y2H Array
25416956
Intra
ASPH Q12797 GET3 Homo sapiens O43681
Validated Y2H
25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant ASPH Proteins

Art. -Nr. Produktname Accession Reinheit
HY-P72092 ASPH Protein, Human (His-SUMO) Q12797-6 (F75-T270) ≥ 90%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases Alias
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
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 (7)
Art. -Nr. Produktname
Wirkung
Reinheit
Rare Diseases
HY-164410 MO-I-1100 Inhibitor 99.76% Unkown
HY-10403A (aS)-PH-797804 Inhibitor / Unkown
HY-146646 Bleomycin A2 99.89% Unkown
HY-160720 ASPH-IN-1 Inhibitor / Unkown
HY-RS01102 ASPH Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS18464 Asph Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS24945 Asph Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source 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