Aliases for ASPH Gene
Aliases for ASPH Gene
External Ids for ASPH Gene
- HGNC: 757
- Entrez Gene: 444
- Ensembl: ENSG00000198363
- OMIM: 600582
- UniProtKB: Q12797
Previous GeneCards Identifiers for ASPH Gene
- GC08M061782
- GC08M062355
- GC08M062138
- GC08M062465
- GC08M062578
- GC08M057901
Summaries for ASPH Gene
-
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]
GeneCards Summary for ASPH Gene
ASPH (Aspartate Beta-Hydroxylase) is a Protein Coding gene. Diseases associated with ASPH include Traboulsi Syndrome and Combat Disorder. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Ion channel transport. GO annotations related to this gene include calcium ion binding and ion channel binding. An important paralog of this gene is ASPHD2.
UniProtKB/Swiss-Prot for ASPH Gene
-
Isoform 1: specifically hydroxylates an Asp or Asn residue in certain epidermal growth factor-like (EGF) domains of a number of proteins.
-
Isoform 8: membrane-bound Ca(2+)-sensing protein, which is a structural component of the ER-plasma membrane junctions. Isoform 8 regulates the activity of Ca(+2) released-activated Ca(+2) (CRAC) channels in T-cells.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ASPH Gene
Genomics for ASPH Gene
Regulatory Elements for ASPH Gene
| GeneHancer Identifier | Enhancer Score | Enhancer Sources | Gene-Enhancer Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Gene Targets for Enhancer |
|---|---|---|---|---|---|---|---|---|
| GH08G061755 | 1.6 | Ensembl ENCODE dbSUPER | 17.9 | -45.4 | -45398 | 8.7 | CREB3L1 ARNT SIN3A CBX5 ZNF143 FOS KLF13 SP3 JUNB REST | ASPH ENSG00000251127 MIR4470 |
| GH08G061765 | 1.9 | FANTOM5 Ensembl ENCODE dbSUPER | 11.8 | -52.6 | -52625 | 3.4 | FOXA2 ATF1 MLX SIN3A DMAP1 FOS SP5 PPARG ZNF592 MBD2 | ASPH ENSG00000251127 LOC101929628 |
| GH08G061691 | 1.2 | Ensembl ENCODE dbSUPER | 18.4 | +22.0 | 21956 | 1.6 | SMAD5 NRF1 MAFG CHD1 ZEB2 CHD7 ATF2 ZNF316 ZNF629 ZSCAN29 | ASPH KRT8P3 GC08P061662 |
| GH08G061653 | 1 | ENCODE dbSUPER | 17.1 | +60.1 | 60078 | 2.0 | PKNOX1 ESRRA TAL1 CHD7 ZNF664 TCF12 GATA3 GATA2 POLR2A ADNP | ASPH KRT8P3 GC08P061662 RN7SKP97 |
| GH08G061688 | 1.3 | Ensembl ENCODE dbSUPER | 12.1 | +24.8 | 24844 | 2.0 | CREB3L1 FEZF1 YY1 ZNF366 ZNF362 CEBPB ZEB2 MEF2D PRDM6 SMARCA4 | ASPH GC08P061662 |
Regulatory Element Products
Genomic Location for ASPH Gene
- Chromosome:
- 8
- Start:
- 61,500,556 bp from pter
- End:
- 61,714,640 bp from pter
- Size:
- 214,085 bases
- Orientation:
- Minus strand
Genomic View for ASPH Gene
- Cytogenetic band:
-
- 8q12.3 by Ensembl
- 8q12.3 by Entrez Gene
- 8q12.3 by HGNC
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for ASPH Gene
Proteins for ASPH Gene
-
Protein details for ASPH Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q12797-ASPH_HUMAN
- Recommended name:
- Aspartyl/asparaginyl beta-hydroxylase
- Protein Accession:
- Q12797
- A6NDF4
- A6NHI2
- B4DIC9
- B4E2K4
- B7ZM95
- E5RGP5
- F5H667
- Q6NXR7
- Q8TB28
- Q9H291
- Q9H2C4
- Q9NRI0
- Q9NRI1
- Q9Y4J0
Protein attributes for ASPH Gene
- Size:
- 758 amino acids
- Molecular mass:
- 85863 Da
- Cofactor:
- Name=Fe cation; Xref=ChEBI:CHEBI:24875;
- Quaternary structure:
-
- Monomer (By similarity). Isoform 8 interacts with ORAI1 and STIM1. Isoform 4 interacts with CASQ2.
Protein Expression for ASPH Gene
Post-translational modifications for ASPH Gene
Other Protein References for ASPH Gene
- ENSEMBL proteins:
-
- ENSP00000348841
- ENSP00000368762
- ENSP00000373856
- ENSP00000394013
- ENSP00000427823
- ENSP00000427877
- ENSP00000428060
- ENSP00000429160
- ENSP00000429286
- ENSP00000429718
- ENSP00000429743
- ENSP00000429954
- ENSP00000430245
- ENSP00000430516
- ENSP00000436188
- ENSP00000437864
- ENSP00000478706
- ENSP00000479830
- ENSP00000479945
- ENSP00000483443
- ENSP00000368767
- REFSEQ proteins:
-
- NP_001158222.1
- NP_001158223.1
- NP_001158224.1
- NP_001158225.1
- NP_001158226.1
- NP_001158227.1
- NP_001158228.1
- NP_004309.2
- NP_064549.1
- NP_115855.1
- NP_115856.1
- NP_115857.1
- XP_005251292.1
- XP_005251293.1
- XP_005251295.1
- XP_005251296.1
- XP_005251297.1
- XP_005251299.1
- XP_005251300.1
- XP_005251301.1
- XP_005251303.1
- XP_005251304.1
- XP_005251305.1
- XP_005251307.1
- XP_016868908.1
- XP_016868909.1
- XP_016868910.1
- XP_016868911.1
- XP_016868912.1
- XP_016868913.1
- XP_016868914.1
- XP_016868915.1
- XP_016868916.1
- XP_016868917.1
- XP_016868918.1
- XP_016868919.1
- XP_016868920.1
- XP_016868921.1
- XP_016868922.1
- XP_016868923.1
- XP_016868924.1
- XP_016868925.1
- XP_016868926.1
- XP_016868927.1
- XP_016868928.1
- XP_016868929.1
- XP_016868930.1
- XP_016868931.1
- XP_016868932.1
- XP_016868933.1
- XP_016868934.1
- XP_016868935.1
- XP_016868936.1
Antibody Products
- Novus Biologicals Antibodies for ASPH
-
Cloud-Clone Corp. Antibodies for ASPH
- Invitrogen Antibodies for ASPH
- antibodies-online Antibodies for ASPH: See all 81
- GeneTex ASPH antibody for ASPH
-
Custom Antibody ServicesProSci Antibodies for ASPH
-
Santa Cruz Biotechnology (SCBT) Antibodies for ASPH
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for ASPH
- Origene Custom Protein Services for ASPH
- ProSpec Recombinant Proteins for ASPH
-
Cloud-Clone Corp. Proteins for ASPH
- antibodies-online Proteins for ASPH: See all 20
- Search antibodies-online for peptides
- Search GeneTex for Proteins for ASPH
No data available for DME Specific Peptides for ASPH Gene
Domains & Families for ASPH Gene
Protein Domains for ASPH Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for ASPH Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q12797- Family:
-
- Belongs to the aspartyl/asparaginyl beta-hydroxylase family.
No data available for Gene Families for ASPH Gene
Function for ASPH Gene
Molecular function for ASPH Gene
- UniProtKB/Swiss-Prot CatalyticActivity:
- Peptide L-aspartate + 2-oxoglutarate + O(2) = peptide 3-hydroxy-L-aspartate + succinate + CO(2).
- UniProtKB/Swiss-Prot Function:
- Isoform 1: specifically hydroxylates an Asp or Asn residue in certain epidermal growth factor-like (EGF) domains of a number of proteins.
- UniProtKB/Swiss-Prot Function:
- Isoform 8: membrane-bound Ca(2+)-sensing protein, which is a structural component of the ER-plasma membrane junctions. Isoform 8 regulates the activity of Ca(+2) released-activated Ca(+2) (CRAC) channels in T-cells.
Enzyme Numbers (IUBMB) for ASPH Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004597 | peptide-aspartate beta-dioxygenase activity | IEA | -- |
| GO:0005198 | structural molecule activity | TAS | 11007777 |
| GO:0005509 | calcium ion binding | NAS,TAS | 11007777 |
| GO:0005515 | protein binding | IPI | 22586105 |
| GO:0008307 | structural constituent of muscle | TAS | 11007777 |
Phenotypes for ASPH Gene
- MGI mutant phenotypes for ASPH:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for ASPH:
-
- Increased vaccinia virus (VACV) infection
- Decreased hepcidin::fluc mRNA expression
- Synthetic lethal with Ras
- Decreased ionizing radiation sensitivity
- Decreased NF-kappaB reporter expression
- Resistant to vaccinia virus (VACV-A4L) infection
- Increased shRNA abundance (Z-score > 2)
- Decreased shRNA abundance (Z-score < -2)
- Decreased shRNA abundance
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for ASPH
-
- Search ViGene Biosciences for ASPH
CRISPR Products
-
OriGene CRISPR knockouts for ASPH
-
Santa Cruz Biotechnology (SCBT) CRISPR for ASPH
- GenScript: Design CRISPR guide RNA sequences for ASPH
miRNA for ASPH Gene
- miRTarBase miRNAs that target ASPH
-
- hsa-mir-155-5p (MIRT020908)
- hsa-mir-215-5p (MIRT024363)
- hsa-mir-192-5p (MIRT026731)
- hsa-mir-16-5p (MIRT031802)
- hsa-mir-921 (MIRT403517)
- hsa-mir-1-3p (MIRT437918)
- mmu-mir-1a-3p (MIRT437919)
- rno-mir-1-3p (MIRT437920)
- hsa-mir-1225-5p (MIRT457127)
- hsa-mir-939-5p (MIRT457128)
- hsa-mir-1343-5p (MIRT457129)
- hsa-mir-6851-5p (MIRT457130)
- hsa-mir-3689d (MIRT457131)
- hsa-mir-4722-5p (MIRT457132)
- hsa-mir-6081 (MIRT457133)
- hsa-mir-7854-3p (MIRT457134)
- hsa-mir-8069 (MIRT457135)
- hsa-mir-4699-5p (MIRT457136)
- hsa-mir-4459 (MIRT457137)
- hsa-mir-6165 (MIRT457138)
- hsa-mir-4506 (MIRT457139)
- hsa-mir-4662b (MIRT457140)
- hsa-mir-4647 (MIRT457141)
- hsa-mir-4426 (MIRT457142)
- hsa-mir-6734-5p (MIRT483701)
- hsa-mir-4728-5p (MIRT483702)
- hsa-mir-6073 (MIRT483703)
- hsa-mir-3175 (MIRT483704)
- hsa-mir-8085 (MIRT483705)
- hsa-mir-6731-5p (MIRT483706)
- hsa-mir-6738-5p (MIRT483707)
- hsa-mir-5194 (MIRT483708)
- hsa-mir-423-5p (MIRT483709)
- hsa-mir-1914-3p (MIRT483710)
- hsa-mir-3184-5p (MIRT483711)
- hsa-mir-3174 (MIRT483712)
- hsa-mir-6755-5p (MIRT483713)
miRNA Products
- Search ViGene Biosciences for ASPH
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for ASPH
- Browse OriGene Inhibitory RNA Products For ASPH
Clone Products
-
OriGene ORF clones in human for ASPH
- RG223930
- RC223930L2
- RC223930L1
- RC223930
- RG224881
- RC224881L2
- RC224881L1
- RC224881
- RG211817
- RC211817L2
- RC211817L1
- RC211817
- RG224339
- RC224339L2
- RC224339L1
- RC224339
- RG216796
- RC216796L2
- RC216796L1
- RC216796
- RG228134
- RC228134L2
- RC228134L1
- RC228134
- RG228203
- RC228203L2
- RC228203L1
- RC228203
- RG228230
- RC228230L2
- RC228230L1
- RC228230
- RG228193
- RC228193L2
- RC228193L1
- RC228193
- RG228210
- RC228210L2
- RC228210L1
- RC228210
- RG228231
- RC228231L2
- RC228231L1
- RC228231
- RG228556
- RC228556L2
- RC228556L1
- RC228556
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
-
GenScript: Next-day shipping cDNA ORF clone for ASPH in any vector
- XM_005251235
- XM_005251236
- XM_005251238
- XM_005251239
- XM_011517532
- XM_005251240
- XM_005251241
- XM_005251242
- XM_005251243
- XM_005251244
- XM_005251246
- XM_005251247
- XM_005251248
- NM_001164756
- NM_004318
- NM_001164754
- NM_001164752
- NM_001164755
- NM_001164753
- NM_032467
- NM_001164751
- NM_001164750
- NM_020164
- NM_032468
- NM_032466
- XM_005251250
- XM_005251249
- Sino Biological Human cDNA Clone for ASPH
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for ASPH
- VectorBuilder custom plasmid, inducible vectors for ASPH
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ASPH
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for ASPH
Flow Cytometry Products
No data available for Transcription Factor Targets and HOMER Transcription for ASPH Gene
Localization for ASPH Gene
Subcellular locations from UniProtKB/Swiss-Prot for ASPH Gene
- Isoform 1: Endoplasmic reticulum membrane; Single-pass type II membrane protein.
- Isoform 4: Sarcoplasmic reticulum membrane; Single-pass type II membrane protein.
- Isoform 8: Endoplasmic reticulum membrane; Single-pass type II membrane protein.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005783 | endoplasmic reticulum | TAS,IDA | -- |
| GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
| GO:0005886 | plasma membrane | IDA | 21062895 |
| GO:0016020 | membrane | IEA | -- |
Pathways & Interactions for ASPH Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Cardiac conduction |
.39
|
|
| 2 | Ion channel transport | ||
| 3 | Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds | ||
Pathways by source for ASPH Gene
6 Reactome pathways for ASPH Gene
Interacting Proteins for ASPH Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006936 | muscle contraction | TAS | 10974562 |
| GO:0007389 | pattern specification process | IEA | -- |
| GO:0008285 | negative regulation of cell proliferation | IEA | -- |
| GO:0018193 | peptidyl-amino acid modification | IEA | -- |
| GO:0031647 | regulation of protein stability | IEA | -- |
No data available for SIGNOR curated interactions for ASPH Gene
Drugs & Compounds for ASPH Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| Fe2+ |
|
15438-31-0 |
|
|||
| Oxoglutaric acid |
|
328-50-7 |
|
Transcripts for ASPH Gene
mRNA/cDNA for ASPH Gene
- (53) REFSEQ mRNAs :
- (22) Additional mRNA sequences :
- (558) Selected AceView cDNA sequences:
- (30) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for ASPH Gene
CRISPR Products
-
OriGene CRISPR knockouts for ASPH
-
Santa Cruz Biotechnology (SCBT) CRISPR for ASPH
- GenScript: Design CRISPR guide RNA sequences for ASPH
miRNA Products
- Search ViGene Biosciences for ASPH
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for ASPH
- Browse OriGene Inhibitory RNA Products For ASPH
Clone Products
-
OriGene ORF clones in human for ASPH
- RG223930
- RC223930L2
- RC223930L1
- RC223930
- RG224881
- RC224881L2
- RC224881L1
- RC224881
- RG211817
- RC211817L2
- RC211817L1
- RC211817
- RG224339
- RC224339L2
- RC224339L1
- RC224339
- RG216796
- RC216796L2
- RC216796L1
- RC216796
- RG228134
- RC228134L2
- RC228134L1
- RC228134
- RG228203
- RC228203L2
- RC228203L1
- RC228203
- RG228230
- RC228230L2
- RC228230L1
- RC228230
- RG228193
- RC228193L2
- RC228193L1
- RC228193
- RG228210
- RC228210L2
- RC228210L1
- RC228210
- RG228231
- RC228231L2
- RC228231L1
- RC228231
- RG228556
- RC228556L2
- RC228556L1
- RC228556
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
-
GenScript: Next-day shipping cDNA ORF clone for ASPH in any vector
- XM_005251235
- XM_005251236
- XM_005251238
- XM_005251239
- XM_011517532
- XM_005251240
- XM_005251241
- XM_005251242
- XM_005251243
- XM_005251244
- XM_005251246
- XM_005251247
- XM_005251248
- NM_001164756
- NM_004318
- NM_001164754
- NM_001164752
- NM_001164755
- NM_001164753
- NM_032467
- NM_001164751
- NM_001164750
- NM_020164
- NM_032468
- NM_032466
- XM_005251250
- XM_005251249
- Sino Biological Human cDNA Clone for ASPH
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for ASPH
- VectorBuilder custom plasmid, inducible vectors for ASPH
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ASPH
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | ||||||||||||||||||||||
| SP2: | - | - | - | - | |||||||||||||||||||||
| SP3: | - | - | |||||||||||||||||||||||
| SP4: | - | - | - | - | - | - | |||||||||||||||||||
| SP5: | - |
Expression for ASPH Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Hematopoietic System)
- Proerythroblasts Hematopoietic Bone Marrow
- Eye (Sensory Organs)
- Adipose (Muscoskeletal System)
-
Skeletal Muscle (Muscoskeletal System)
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ASPH Gene
NURSA nuclear receptor signaling pathways regulating expression of ASPH Gene:
ASPHSOURCE GeneReport for Unigene cluster for ASPH Gene:
Hs.332422mRNA Expression by UniProt/SwissProt for ASPH Gene:
Q12797-ASPH_HUMANEvidence on tissue expression from TISSUES for ASPH Gene
- Nervous system(4.9)
- Heart(4.6)
- Liver(4.6)
- Muscle(4.6)
- Kidney(3.8)
- Skin(3.5)
- Lung(3.4)
- Intestine(2.9)
- Pancreas(2.7)
- Adrenal gland(2.4)
- Stomach(2.4)
- Eye(2.2)
- Bone(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for ASPH Gene
- ectoderm
- mesoderm
- integumentary
- nervous
- skeleton
- brain
- chin
- cranial nerve
- eye
- eyelid
- face
- head
- jaw
- mandible
- maxilla
- mouth
- nose
- skull
- tooth
- peripheral nervous system
- skin
Primer Products
-
OriGene qPCR primer pairs for ASPH
-
OriGene qPCR primer pairs and template standards for ASPH
No data available for mRNA differential expression in normal tissues for ASPH Gene
Orthologs for ASPH Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | ASPH 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | ASPH 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Asph 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Asph 34 |
|
||
| dog (Canis familiaris) |
Mammalia | ASPH 35 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | ASPH 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | ASPH 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | ASPH 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | ASPH 35 |
|
OneToOne | |
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.1434 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | ASPH 35 |
|
OneToOne | |
| fruit fly (Drosophila melanogaster) |
Insecta | Asph 35 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | K09A9.6 35 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.621 35 |
|
OneToOne |
- Species where no ortholog for ASPH was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- tropical clawed frog (Silurana tropicalis)
- wheat (Triticum aestivum)
Paralogs for ASPH Gene
Variants for ASPH Gene
| SNP ID | Clin | Chr 08 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs374385878 | Pathogenic, Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs (FDLAB) [MIM:601552] | 61,503,433(+) | CAGCC(A/G)GAAAG | reference, missense | |
| rs879255574 | Pathogenic | 61,526,021(-) | ATGAA(AACCT/GGG)GAGGG | reference, frameshift-variant | |
| rs1000009920 | -- | 61,621,289(+) | AGTTT(C/T)ATATT | intron-variant | |
| rs1000020692 | -- | 61,578,180(+) | ATCTC(C/T)GCCTG | intron-variant | |
| rs1000024817 | -- | 61,547,419(+) | AGACC(A/C)TTTTA | intron-variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv1949409 | CNV | deletion | 18987734 |
| esv22699 | CNV | loss | 19812545 |
| esv2662959 | CNV | deletion | 23128226 |
| esv2761430 | CNV | loss | 21179565 |
| esv3572792 | CNV | loss | 25503493 |
| esv3572793 | CNV | loss | 25503493 |
| esv3617389 | CNV | gain | 21293372 |
| esv3617390 | CNV | gain | 21293372 |
| esv3617391 | CNV | loss | 21293372 |
| esv3617392 | CNV | loss | 21293372 |
| esv3617393 | CNV | gain | 21293372 |
| nsv1015216 | CNV | loss | 25217958 |
| nsv1029046 | CNV | gain | 25217958 |
| nsv473963 | CNV | novel sequence insertion | 20440878 |
| nsv521898 | CNV | gain | 19592680 |
| nsv967596 | CNV | duplication | 23825009 |
Relevant External Links for ASPH Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ASPH Gene
Disorders for ASPH Gene
(10) MalaCards diseases for ASPH Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| traboulsi syndrome |
|
|
| combat disorder |
|
|
| regular astigmatism |
|
|
| in situ pulmonary adenocarcinoma |
|
|
| acute stress disorder |
|
|
UniProtKB/Swiss-Prot
ASPH_HUMAN- Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs (FDLAB) [MIM:601552]: A syndrome characterized by dislocated crystalline lenses and anterior segment abnormalities in association with a distinctive facies involving flat cheeks and a beaked nose. Some affected individuals develop highly unusual non-traumatic conjunctival cysts (filtering blebs). {ECO:0000269 PubMed:24768550}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Relevant External Links for ASPH
No data available for Genatlas for ASPH Gene
Publications for ASPH Gene
- cDNA cloning and characterization of human cardiac junctin. (PMID: 10974562) Lim K.Y. … Kim D.H. (Gene 2000) 2 3 4 22 64
- Cloning and characterization of the human gene encoding aspartyl beta-hydroxylase. (PMID: 7821814) Korioth F. … Frey J. (Gene 1994) 2 3 4 22 64
- Molecular cloning of junctin from human and developing rabbit heart. (PMID: 10767180) Wetzel G.T. … Chen F. (Mol. Genet. Metab. 2000) 3 4 22 64
- Aspartyl beta -hydroxylase (Asph) and an evolutionarily conserved isoform of Asph missing the catalytic domain share exons with junctin. (PMID: 10956665) Dinchuk J.E. … Friedman P.A. (J. Biol. Chem. 2000) 3 4 22 64
- Molecular cloning, expression, functional characterization, chromosomal localization, and gene structure of junctate, a novel integral calcium binding protein of sarco(endo)plasmic reticulum membrane. (PMID: 11007777) Treves S. … Zorzato F. (J. Biol. Chem. 2000) 3 4 22 64
Products for ASPH Gene
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- OriGene qPCR primer pairs and template standards for ASPH
- OriGene qPCR primer pairs for ASPH
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- OriGene ORF clones in human for ASPH
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- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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- antibodies-online Proteins for ASPH: See all 20
- Search antibodies-online for peptides
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- Santa Cruz Biotechnology (SCBT) CRISPR for ASPH
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- Cyagen custom Knockout/knockin (KOKI) mouse models for ASPH
- VectorBuilder custom plasmid, inducible vectors for ASPH
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ASPH
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for ASPH Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
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- (11) GO
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- (14) ProtoNet
- (15) Blocks
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- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
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- (100) COMPARTMENTS
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- (109) TreeFam
- (110) PathCards
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- (155) Gene ORGANizer




