ASPH

GENERAL INFORMATION

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Gene name

ASPH

Gene description

Aspartate beta-hydroxylase

Protein class

Cancer-related genes
Disease related genes
Enzymes
Plasma proteins
Potential drug targets
Predicted intracellular proteins
Predicted membrane proteins

Predicted localization

Intracellular,Membrane

Number of transcripts

21
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

General cytoplasmic expression.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining mainly consistent with RNA expression data.

Data reliability

Uncertain based on 1 antibody.
HPA059303
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Pancreas

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

ASPH (HGNC Symbol)

Synonyms

BAH, CASQ2BP1, HAAH, JCTN

Description

Aspartate beta-hydroxylase (HGNC Symbol)

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]

Chromosome

8

Cytoband

q12.3

Chromosome location (bp)

61500556 - 61714640

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000198363 (version 78.38)

Entrez gene

444

UniProt

Q12797 (UniProt - Evidence at protein level)

neXtProt

NX_Q12797

Antibodypedia

ASPH antibodies


PROTEIN BROWSER

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ENST00000356457
 
ENST00000379449
 
ENST00000379454
 
ENST00000389204
 
ENST00000445642
 
ENST00000517661
 
ENST00000517847
 
ENST00000517856
 
ENST00000517903
 
ENST00000518068
 
ENST00000518306
 
ENST00000519234
 
ENST00000519264
 
ENST00000519678
 
ENST00000522349
 
ENST00000522603
 
ENST00000522835
 
ENST00000522919
 
ENST00000523927
 
ENST00000524173
 
ENST00000541428
 
 » 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ASPH-001 ENSP00000348841
ENST00000356457
Q12797
Show all »
Show » Show » 313 34.6 No 1
ASPH-002 ENSP00000368767
ENST00000379454
Q12797
Show all »
Show » Show » 758 85.9 No 1
ASPH-003 ENSP00000430245
ENST00000517903
Q12797
Show all »
Show » Show » 298 33.7 No 1
ASPH-004 ENSP00000436188
ENST00000522603
Q12797
Show all »
Show » Show » 210 23.8 No 1
ASPH-005 ENSP00000373856
ENST00000389204
Q12797
Show all »
Show » Show » 225 25.6 No 1
ASPH-006 ENSP00000368762
ENST00000379449
Q12797
Show all »
Show » Show » 203 22 No 1
ASPH-008 ENSP00000429286
ENST00000518068
Q12797
Show all »
Show » Show » 270 29.8 No 1
ASPH-009 ENSP00000429160
ENST00000522835
Q12797
Show all »
Show » Show » 256 28.9 No 1
ASPH-011 ENSP00000427823
ENST00000519234
E5RG56
Show all »
Show » Show » 327 36.3 No 1
ASPH-015 ENSP00000428060
ENST00000517661
G3XAN5
Show all »
Show » Show » 174 19.4 No 1
ASPH-016 ENSP00000427877
ENST00000518306
E5RG29
Show all »
Show » Show » 198 22.2 No 1
ASPH-018 ENSP00000429743
ENST00000517856
E5RHJ2
Show all »
Show » Show » 113 11.8 No 1
ASPH-021 ENSP00000483443
ENST00000519678
Show » Show » 134 15.4 No 0
ASPH-022 ENSP00000479830
ENST00000519264
Show » 44 5.1 No 0
ASPH-023 ENSP00000430516
ENST00000522919
E5RJL3
Show all »
Show » Show » 163 18.7 No 0
ASPH-024 ENSP00000429718
ENST00000522349
E5RHK2
Show all »
Show » Show » 136 15.3 No 1
ASPH-028 ENSP00000479945
ENST00000524173
Show » Show » 196 22.7 No 0
ASPH-029 ENSP00000478706
ENST00000523927
Show » Show » 186 21.2 No 0
ASPH-032 ENSP00000429954
ENST00000517847
Q12797
Show all »
Show » Show » 299 33.8 No 1
ASPH-201 ENSP00000394013
ENST00000445642
Show » Show » 294 32.4 No 1
ASPH-202 ENSP00000437864
ENST00000541428
Q12797
Show all »
Show » Show » 729 83.3 No 1