2. Gene
  3. ASPHD1 - aspartate beta-hydroxylase domain containing 1 Gene

ASPHD1 - aspartate beta-hydroxylase domain containing 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：含天冬氨酸 β-羟化酶结构域 1

种属: Homo sapiens

基因 ID: 253982 | 基因类型: protein coding

关于 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.

功能概要

预测启用双加氧酶活性。预计参与肽基氨基酸修饰。预计是膜的组成部分。 [由基因组资源联盟提供，2022 年 4 月]

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 基因产物(1)

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

ASPHD1 蛋白结构

Asp_Arg_Hydrox

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

  • 0
  • 100
  • 200
  • 300
  • 390 a.a.
蛋白主名 其他名称

aspartate beta-hydroxylase domain-containing protein 1

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS01103 ASPHD1 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 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
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