ASPHD1 - aspartate beta-hydroxylase domain containing 1 Gene

Homo sapiens

Gene ID: 253982 | Gene type: protein coding

About ASPHD1

This gene has 6 transcripts (splice variants), 127 orthologues and 2 paralogues. Biased expression in brain (RPKM 13.0), stomach (RPKM 3.5) and 7 other tissues.

Summary

Predicted to enable dioxygenase activity. Predicted to be involved in peptidyl-amino acid modification. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]

ASPHD1 Products(1)

mRNA	Protein	Name
NM_181718.4	NP_859069.2	aspartate beta-hydroxylase domain-containing protein 1

ASPHD1 Protein Structure

Asp_Arg_Hydrox

0
100
200
300
390 a.a.

Protein Preferred Names

Protein Names

aspartate beta-hydroxylase domain-containing protein 1

Related Diseases

Diseases

Alias

Spondylocostal Dysostosis 5

Spondylothoracic Dysostosis	SCDO5
Jarcho-Levin Syndrome	Scoliosis, Congenital, With Or Without Rib Anomalies
Tacs	Spondylocostal Dysplasia
Costovertebral Segmentation Anomalies	Spondylocostal Dysostosis 1
Spondylocostal Dysostosis	Spondylothoracic Dysplasia
Scdo1	Spondylocostal Dysostosis 1 Autosomal Recessive
Costovertebral Dysplasia	Scdo
Std	Autosomal Dominant Spondylocostal Dysostosis
Autosomal Dominant Spondylocostal Dysplasia	Doid:0112363
Spondylocostal Dysostosis 4, Autosomal Dominant

Schizophrenia 3

SCZD3	Schizophrenia Susceptibility Locus, Chromosome 6-Related
Schizophrenia 3 With Or Without An Affective Disorder

Spondyloepimetaphyseal Dysplasia With Joint Laxity

Dysplasia, Spondyloepimetaphyseal, With Joint Laxity	Semdjl
Spondyloepimetaphyseal Dysplasia Joint Laxity	Semd-Jl
Semdjl1	Spondyloepimetaphyseal Dysplasia With Joint Laxity Type 1
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Beighton Type

Episodic Kinesigenic Dyskinesia 1

Paroxysmal Kinesigenic Choreoathetosis	Paroxysmal Kinesigenic Dyskinesia
Dystonia 10	Familial Paroxysmal Kinesigenic Dyskinesia
Episodic Kinesigenic Dyskinesia	EKD1
Pkc	Pkd
Dyt10	Familial Pkd
Paroxysmal Kinesigenic Choreathetosis	Familial Paroxysmal Dystonia
Dystonia, Familial Paroxysmal	Dyt-Prrt2
Dystonia, Type 10

Benign Familial Infantile Epilepsy

Benign Familial Infantile Seizures	Bfie
Benign Familial Infantile Convulsion	Bfic
Bfis	Benign Familial Infantile Convulsions
Familial Benign Neonatal Epilepsy	Watanabe-Vigevano Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01103	ASPHD1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	ASPHD1	VGNC	VGNC:70138
Canis familiaris	ASPHD1	VGNC	VGNC:38187
Felis catus	ASPHD1	VGNC	VGNC:59976
Rattus norvegicus	ASPHD1	RGD	RGD:1306636
Mus musculus	ASPHD1	MGD	MGI:2685014
Bos taurus	ASPHD1	VGNC	VGNC:26220

Name
Email *

	Sorry, but the email address you supplied was invalid.