Fields »

GENE AND PROTEIN SUMMARY

? »

Gene name

ASPH

Description

aspartate beta-hydroxylase

Protein class

Candidate cancer biomarkers, Enzymes, Mapped to UniProt SWISS-PROT, Potential transmembrane proteins

Protein evidence

Medium

Entrez gene 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]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

17 in total
16 with predicted TM region
0 with predicted signal peptide

SUBCELLULAR LOCATION SUMMARY

? »

Pending subcellular analysis

NORMAL TISSUE & ORGAN SUMMARY

? »

Pending normal tissue analysis

CANCER TISSUE SUMMARY

? »

Pending cancer tissue analysis

CELL LINE SUMMARY

? »

RNA evidence

High
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

A-431 Skin High

-

-

A-549 Lung High

-

-

CACO-2 Colon High

-

-

HEK 293 Embryonal kidney High

-

-

HeLa Cervix High

-

-

Hep-G2 Liver High

-

-

MCF-7 Pleural effusion High

-

-

PC-3 Bone marrow High

-

-

RT-4 Urinary bladder High

-

-

U-2 OS Bone High

-

-

U-251 MG Brain High

-

-

ANTIBODY SUMMARY

? »

Pending antibodies