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Gene, Transcriptome, Protein, Pathway or Disease. 

Gene basic information

LiverAtlas Gene ID

HuLG000326

Entrez Gene ID

444

Official Gene Symbol

ASPH

Synonyms

AAH|BAH|CASQ2BP1|HAAH|JCTN|junctin

Gene name

aspartate beta-hydroxylase

Gene Type

protein-coding

Chromosome

8

Genomics Location

8q12.1

Known cancer genes

Yes

Protein products

Aspartyl/asparaginyl beta-hydroxylase

Aspartate beta-hydroxylase isoform f

cDNA FLJ59002, highly similar to Homo sapiens aspartate beta-hydroxylase (ASPH), transcript variant 2, mRNA

cDNA FLJ54075, highly similar to Aspartyl/asparaginyl beta-hydroxylase (EC 1.14.11.16)

cDNA FLJ54576, highly similar to Aspartyl/asparaginyl beta-hydroxylase (EC 1.14.11.16)

ASPH protein

ASPH protein

Aspartate beta-hydroxylase

ASPH protein

ASPH protein

Aspartate beta-hydroxylase, isoform CRA b

Related liver disease name

Hepatocellular carcinoma

Intrahepatic cholangiocarcinoma

Database cross reference

HGNC:757
MIM:600582
Ensembl:ENSG00000198363
HPRD:08996
RefSeq Genomic nucleotide accession:AC_000051
RefSeq Genomic nucleotide gi:89161214

Liver relevance

HCC significant genes

Yes/No

Yes

Evidence

EHCO OncoDB

Quality score

 

Ontology annotation

GO ID

GO annotation

GO:0004597

peptide-aspartate beta-dioxygenase activity

GO:0005198

structural molecule activity

GO:0005488

binding

GO:0005509

calcium ion binding

GO:0005783

endoplasmic reticulum

GO:0005789

endoplasmic reticulum membrane

GO:0006936

muscle contraction

GO:0007389

pattern specification process

GO:0008285

negative regulation of cell proliferation

GO:0008307

structural constituent of muscle

GO:0009055

electron carrier activity

GO:0016020

membrane

GO:0016021

integral to membrane

GO:0016491

oxidoreductase activity

GO:0016702

oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen

GO:0018193

peptidyl-amino acid modification

GO:0030176

integral to endoplasmic reticulum membrane

GO:0035108

limb morphogenesis

GO:0042264

peptidyl-aspartic acid hydroxylation

GO:0060021

palate development

GO:0060325

face morphogenesis