2. Gene
  3. P4HTM - prolyl 4-hydroxylase, transmembrane Gene

P4HTM - prolyl 4-hydroxylase, transmembrane Gene

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

中文名称：脯氨酰 4-羟化酶，跨膜

种属: Homo sapiens

同用名: PH4; PH-4; PHD4; EGLN4; HIDEA; HIFPH4; P4H-TM

基因 ID: 54681 | 基因类型: protein coding

关于 P4HTM

Cytogenetic location: 3p21.31 Genomic coordinates (GRCh38): 3:48,989,908-49,007,153 (from NCBI)

This gene has 12 transcripts (splice variants), 296 orthologues, 3 paralogues and is associated with 2 phenotypes. Ubiquitous expression in brain (RPKM 16.9), adrenal (RPKM 14.4) and 25 other tissues.

功能概要

该基因的产物属于脯氨酰 4-羟化酶家族。该蛋白是一种脯氨酰羟化酶，可能参与常氧条件下低氧诱导转录因子的降解。它在适应缺氧中发挥作用，可能与细胞氧感应有关。已经鉴定出编码不同亚型的可变剪接变体。[RefSeq 提供，2008 年 7 月]

The product of this gene belongs to the family of prolyl 4-hydroxylases. This protein is a prolyl hydroxylase that may be involved in the degradation of hypoxia-inducible transcription factors under normoxia. It plays a role in adaptation to hypoxia and may be related to cellular oxygen sensing. Alternatively spliced variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

P4HTM 基因产物(2)

mRNA Protein Name
NM_177938.2 NP_808807.2 transmembrane prolyl 4-hydroxylase isoform c
NM_177939.3 NP_808808.1 transmembrane prolyl 4-hydroxylase isoform a
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables 2-oxoglutarate-dependent dioxygenase activity IDA
IDA: 通过直接分析推断
22955912 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

P4HTM 蛋白结构

EF-hand_5

EF-hand_5: EF hand (235 - 251)

2OG-FeII_Oxy_3

2OG-FeII_Oxy_3: 2OG-Fe(II) oxygenase superfamily (315 - 458)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 502 a.a.
蛋白主名 其他名称

transmembrane prolyl 4-hydroxylase

HIF-PH4

关联疾病

疾病名称 别名
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities

HIDEA

Hypotonia, Hyperventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Dysautonomia
Hypotonia
Central Sleep Apnea

Central Sleep Apnea Syndrome

Sleep Apnea, Central

Primary Central Sleep Apnea

Central Sleep Apnea, Primary

Central Sleep Apnoea Syndrome

Csa - [Central Sleep Apnoea]

Csas - [Central Sleep Apnoea Syndrome]

Central Sleep Apnoea Due To Substances Including Medications
Spherocytosis, Type 3

Hereditary Spherocytosis Type 3

SPH3

Hs3

Spherocytosis, Hereditary, 3

Hereditary Spherocytosis 3

Spherocytosis 3
Epilepsy

Epilepsy Syndrome

Epileptic Syndrome

Epilepsies

Symptomatic Epilepsies

Post Traumatic Epilepsy

Traumatic Epilepsy

Traumatic Epileptic

Epilepsy Due To Hippocampal Sclerosis

Epilepsy With Ammon'S Horn Sclerosis

Epilepsy Due To Cortical Dysplasia

Epilepsy Due To Neuronal Migration Disorders
Kabuki Syndrome 1

Kabuki Syndrome

Niikawa-Kuroki Syndrome

Kabuki Make-Up Syndrome

Kms

KABUK1

Kabuki Make Up Syndrome

Nks

Kabuki Makeup Syndrome

Kabuki Syndrome, Type 1
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-RS09946 P4HTM Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus P4HTM VGNC VGNC:64017
Mus musculus P4HTM MGD MGI:1921693
Bos taurus P4HTM VGNC VGNC:32539
Rattus norvegicus P4HTM RGD RGD:1311848
Canis familiaris P4HTM VGNC VGNC:44226
Macaca mulatta P4HTM VGNC VGNC:75693
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