2. Gene
  3. PUDP - pseudouridine 5'-phosphatase Gene

PUDP - pseudouridine 5'-phosphatase Gene

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

中文名称：假尿苷 5'-磷酸酶

种属: Homo sapiens

同用名: GS1; HDHD1; HDHD1A; FAM16AX; DXF68S1E

基因 ID: 8226 | 基因类型: protein coding

关于 PUDP

Cytogenetic location: Xp22.31 Genomic coordinates (GRCh38): X:6,705,838-7,148,153 (from NCBI)

This gene has 7 transcripts (splice variants) and 200 orthologues. Ubiquitous expression in placenta (RPKM 6.4), colon (RPKM 5.4) and 25 other tissues.

功能概要

该基因编码卤代酸脱卤素酶样 (HAD) 水解酶超家族的成员。编码的蛋白质没有已知的生物学功能。该基因在 1 号染色体上有一个假基因。已鉴定出编码不同亚型的多个可变剪接转录本变体。[RefSeq 提供，2010 年 7 月]

This gene encodes a member of the haloacid dehalogenase-like (HAD) hydrolase superfamily. The encoded protein has no known biological function. This gene has a pseudogene on chromosome 1. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2010]

PUDP 基因产物(4)

mRNA Protein Name
NM_001135565.2 NP_001129037.1 pseudouridine-5'-phosphatase isoform a
NM_001178135.2 NP_001171606.1 pseudouridine-5'-phosphatase isoform c
NM_001178136.2 NP_001171607.1 pseudouridine-5'-phosphatase isoform d
NM_012080.5 NP_036212.3 pseudouridine-5'-phosphatase isoform b
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 protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
enables pseudouridine 5'-phosphatase activity IDA
IDA: 通过直接分析推断
20722631 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

PUDP 蛋白结构

HAD_2

HAD_2: Haloacid dehalogenase-like hydrolase (11 - 194)

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

pseudouridine-5'-phosphatase

5'-PsiMPase

PUDP 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra PUDP Q08623 MAGEA4 Homo sapiens P43358
Y2H Prey Pooling
32296183
Intra PUDP Q08623 MAGEA4 Homo sapiens P43358
Y2H Array
32296183
Intra PUDP Q08623 GLYCTK Homo sapiens Q8IVS8
Validated Y2H
32296183
Intra PUDP Q08623 AIRIM Homo sapiens Q9NX04
Validated Y2H
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Ichthyosis, X-Linked

X-Linked Ichthyosis

Steroid Sulfatase Deficiency

Placental Steroid Sulfatase Deficiency

Steroid Sulfatase Deficiency Disease

XLI

Sts Deficiency

Ssdd

X-Linked Recessive Ichthyosis

X-Linked Ichthyosis With Steryl-Sulphatase Deficiency

X-Linked Placental Steryl-Sulphatase Deficiency

Ssd

X Linked Ichthyosis

Recessive X-Linked Ichthyosis

Rxli

Syndromic Recessive X-Linked Ichthyosis

Recessive X-Linked Ichthyosis With Extracutaneous Manifestations

Syndromic Rxli

X-Linked Ichthyosis Syndrome

IXL

Ichthyosis X-Linked

Sex-Linked Ichthyosis

X-Linked Ichthyosis With Steryl-Sulfatase Deficiency
Ichthyosis

Ichthyoses

Non-Syndromic Ichthyosis

Congenital Ichthyosis
Developmental And Epileptic Encephalopathy 54

DEE54

Epileptic Encephalopathy, Early Infantile, 54

Eiee54

Developmental And Epileptic Encephalopathy, 54

Early Infantile Epileptic Encephalopathy 54

Encephalopathy, Epileptic, Early Infantile, Type 54
Kallmann Syndrome

Hypogonadism With Anosmia

Kallman'S Syndrome

Anosmic Hypogonadism

Anosmic Idiopathic Hypogonadotropic Hypogonadism

Hypogonadotropic Hypogonadism And Anosmia

Hypogonadotropic Hypogonadism-Anosmia Syndrome

Olfacto-Genital Pathological Sequence

Familial Hypogonadism With Anosmia

Kallman Syndrome

Dysplasia Olfactogenitalis Of De Morsier

Kallmann'S Syndrome

Congenital Hypogonadotropic Hypogonadism With Anosmia
Cryptorchidism, Unilateral Or Bilateral

Cryptorchidism

Undescended Testicle

Undescended Testis

Cryptorchism

Undescended Testicles

CRYPTO

Impaired Testicular Descent

Cryptosporidiosis

Retained Testis

Unilateral Cryptorchidism

Unilateral Undescended Testis

Nondescent Unilateral Testicle

Unilateral Cryptorchism

Ectopic Testis, Unilateral

Bilateral Cryptorchidism

Bilateral Cryptorchism

Bilateral Nondescent Testicle

Bilateral Undescended Testes

Bilateral Ectopic Testes
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-RS11459 PUDP Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris PUDP VGNC VGNC:45205
Bos taurus PUDP VGNC VGNC:33568
Rattus norvegicus PUDP RGD RGD:1305101
Mus musculus PUDP MGD MGI:1914615
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