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Gene: ASPH (aspartate beta-hydroxylase) Homo sapiens
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Symbol: ASPH
Name: aspartate beta-hydroxylase
Description: Exhibits calcium ion binding activity. Involved in several processes, including positive regulation of macromolecule metabolic process; regulation of calcium ion transport; and response to ATP. Localizes to the cortical endoplasmic reticulum; integral component of endoplasmic reticulum membrane; and plasma membrane. Implicated in cholangiocarcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: A beta H-J-J; AAH; ASP beta-hydroxylase; aspartyl/asparaginyl beta-hydroxylase; aspartyl/asparaginyl-beta-hydroxylase; BAH; cardiac junctin; CASQ2BP1; FDLAB; HAAH; humbug; JCTN; junctate; junctin; peptide-aspartate beta-dioxygenase
Orthologs:
Mus musculus (house mouse) : Asph (aspartate-beta-hydroxylase)  MGI  Alliance
Rattus norvegicus (Norway rat) : Asph (aspartate-beta-hydroxylase)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Asph (aspartate beta-hydroxylase)
Pan paniscus (bonobo/pygmy chimpanzee) : ASPH (aspartate beta-hydroxylase)
Canis lupus familiaris (dog) : ASPH (aspartate beta-hydroxylase)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Asph (aspartate beta-hydroxylase)
Sus scrofa (pig) : ASPH (aspartate beta-hydroxylase)
Chlorocebus sabaeus (green monkey) : ASPH (aspartate beta-hydroxylase)
Heterocephalus glaber (naked mole-rat) : Asph (aspartate beta-hydroxylase)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl861,500,556 - 61,714,640 (-)Ensembl
GRCh38861,500,556 - 61,714,640 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37862,413,115 - 62,627,199 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36862,578,374 - 62,789,560 (-)NCBINCBI36hg18NCBI36
Build 34862,699,648 - 62,764,919NCBI
Celera858,402,958 - 58,617,392 (-)NCBI
Cytogenetic Map8q12.3NCBI
HuRef857,901,587 - 58,116,117 (-)NCBIHuRef
CHM1_1862,465,102 - 62,679,146 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
 
More on ASPH
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1323751
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2020-02-11
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.