ASPHD1 - aspartate beta-hydroxylase domain containing 1 Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 253982

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

Asp_Arg_Hydrox: Aspartyl/Asparaginyl beta-hydroxylase (251 - 372)

  • 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

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 Set / 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
Others ASPHD1 NCBI