ASPH
Sign in to saveAlso known as AAH, BAH, CASQ2BP1, FDLAB, HAAH, JCTN, junctin, aspartate beta-hydroxylase
Aspartyl/asparaginyl beta-hydroxylase (HAAH) is an enzyme that in humans is encoded by the ASPH gene. ASPH is an alpha-ketoglutarate-dependent hydroxylase, a superfamily non-haem iron-containing proteins.
Gene data
ASPH- Name
- aspartate beta-hydroxylase
- Type
- protein-coding
- Position
- 61,491,715–61,714,822 (−)
- Aliases
- AAH, BAH, CASQ2BP1, FDLAB, HAAH, JCTN, junctin
- Ensembl
- ENSG00000198363
- RefSeq RNA
- NM_001164750.2, NM_001164751.2, NM_001164752.2, NM_001164753.2, NM_001164754.2
- RefSeq protein
- NP_001158222.1, NP_001158223.1, NP_001158224.1, NP_001158225.1, NP_001158226.1
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].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
aspartate beta-hydroxylase
- Symbol
- ASPH
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 8:61,491,715-61,714,822
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
- Image
- 3rcq.png
Show 8 more facts
- HomoloGene ID
- 20910
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/444
- chromosome
- human chromosome 8
- genomic start
- 62413116
- genomic end
- 62627155
- cytogenetic location
- 8q12.3
- expressed in
- adipose tissue
via Wikidata · CC0
~1 min read
Encyclopedic overview
5 sectionsContents
- Function
- Clinical significance
- References
- Further reading
- External links
Aspartyl/asparaginyl beta-hydroxylase (HAAH) is an enzyme that in humans is encoded by the ASPH gene. ASPH is an alpha-ketoglutarate-dependent hydroxylase, a superfamily non-haem iron-containing proteins.
== Function == This gene is thought to play an important role in calcium homeostasis. Alternative splicing of this gene results in five transcript variants which vary in protein translation, the coding of catalytic domains, and tissue expression. Variation among these transcripts impacts their functions which involve roles in the calcium storage and release process in the endoplasmic and sarcoplasmic reticulum as well as hydroxylation of aspartic acid and asparagine in epidermal growth factor-like domains of various proteins.
Excerpted from Wikipedia’s “ASPH” article, available under the CC BY-SA 4.0 licence.