ASPH

Also 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
Aliases: AAH, BAH, CASQ2BP1, FDLAB, HAAH, JCTN, junctin

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].

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

View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Image: 3rcq.png

Show 5 more facts

HomoloGene ID: 20910
exact match: identifiers.org/ncbigene/444
genomic start: 62413116
genomic end: 62627155
cytogenetic location: 8q12.3

Sources (4)

via Wikidata · CC0

~1 min read

Article

5 sections

Contents

Function
Clinical significance
References
Further reading
External links

== 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.