2. Gene
  3. PTDSS1 - phosphatidylserine synthase 1 Gene

PTDSS1 - phosphatidylserine synthase 1 Gene

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

中文名称：磷脂酰丝氨酸合酶 1

种属: Homo sapiens

同用名: LMHD; PSS1; PSSA

基因 ID: 9791 | 基因类型: protein coding

关于 PTDSS1

Cytogenetic location: 8q22.1 Genomic coordinates (GRCh38): 8:96,261,902-96,336,995 (from NCBI)

This gene has 6 transcripts (splice variants), 271 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in heart (RPKM 35.2), placenta (RPKM 27.0) and 25 other tissues.

功能概要

该基因编码的蛋白质催化磷脂酰胆碱或磷脂酰乙醇胺形成磷脂酰丝氨酸。磷脂酰丝氨酸定位于内质网的线粒体相关膜，在那里它起到结构作用和信号作用。该基因的缺陷是导致 Lenz-Majewski 骨质增生性侏儒症的原因。已发现该基因的两个转录本变体编码不同的亚型。[RefSeq 提供，2014 年 3 月]

The protein encoded by this gene catalyzes the formation of phosphatidylserine from either phosphatidylcholine or phosphatidylethanolamine. Phosphatidylserine localizes to the mitochondria-associated membrane of the endoplasmic reticulum, where it serves a structural role as well as a signaling role. Defects in this gene are a cause of Lenz-Majewski hyperostotic dwarfism. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014]

PTDSS1 基因产物(2)

mRNA Protein Name
NM_001290225.2 NP_001277154.1 phosphatidylserine synthase 1 isoform 2
NM_014754.3 NP_055569.1 phosphatidylserine synthase 1 isoform 1
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables L-serine-phosphatidylcholine phosphatidyltransferase activity IDA
IDA: 通过直接分析推断
19014349 GOA
enables L-serine-phosphatidylcholine phosphatidyltransferase activity IMP
IMP: 通过突变表型推断
24241535 GOA
enables L-serine-phosphatidylethanolamine phosphatidyltransferase activity IDA
IDA: 通过直接分析推断
19014349 GOA
enables L-serine-phosphatidylethanolamine phosphatidyltransferase activity IMP
IMP: 通过突变表型推断
24241535 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in phosphatidylserine biosynthetic process IDA
IDA: 通过直接分析推断
19014349 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

PTDSS1 蛋白结构

PSS

PSS: Phosphatidyl serine synthase (96 - 373)

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

phosphatidylserine synthase 1

PSS-1

关联疾病

疾病名称 别名
Lenz-Majewski Hyperostotic Dwarfism

Lenz-Majewski Syndrome

Lenz Majewski Hyperostotic Dwarfism

LMHD

Hyperostotic Dwarfism Lenz-Majewski Type

Lenz-Majewski Hyperostotic Dysplasia

Multiple Congenital Anomalies, Intellectual Disability And Progressive Skeletal Sclerosis

Lms
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy

Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome

SMDCRD

Smd-Crd

Dysplasia, Spondylometaphyseal, With Cone-Rod Dystrophy
Slate Pneumoconiosis

Schistosis
Hyperostosis

Hypertrophy Of Bone

Bone Hypertrophy

Bone Thickening

Periosteum Thickening
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract

Pharc Syndrome

PHARC

Polyneyropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract

Polyneuropathy-Hearing Loss-Ataxia-Retinitis Pigmentosa-Cataract Syndrome

Peripheral Neuropathy, Fiskerstrand Type

Polyneuropathy-Deafness-Ataxia-Retinitis Pigmentosa-Cataract Syndrome

Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, Cataract
Calvarial Doughnut Lesions With Bone Fragility

Calvarial Doughnut Lesions With Bone Fragility With Or Without Spondylometaphyseal Dysplasia

Calvarial Doughnut Lesions-Bone Fragility Syndrome

CDL

Doughnut Lesions Of Skull, Familial

Calvarial Doughnut Lesions With Bone Fragility And Spondylometaphyseal Dysplasia

Familial Doughnut Lesions Of Skull

CDLSMD
Cutis Laxa

Generalized Elastolysis

Loose Skin

Dermatolysis

Dermatomegaly

Cutis Laxa Syndrome
Spondylometaphyseal Dysplasia, Corner Fracture Type

SMDCF

Spondylometaphyseal Dysplasia, Sutcliffe Type

Spondylometaphyseal Dysplasia Corner Fracture Type

Spondylometaphyseal Dysplasia, 'Corner Fracture' Type

Spondylometaphyseal Dysplasia Sutcliffe Type

Sutcliffe Type Of Spondylometaphyseal Dysplasia

Spondylometaphyseal Dysplasia - Sutcliffe Type

Smd, Corner Fractures Type

Smd, Sutcliffe Type

Sutcliffe Smd

Dysplasia, Spondylometaphyseal, Corner Fracture Type
Sotos Syndrome 1

Sotos1

Sotos Syndrome, Type 1

Sotos' Syndrome
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly

Majewski Syndrome

SRTD6

Srps2a

Short Rib-Polydactyly Syndrome, Majewski Type

Polydactyly With Neonatal Chondrodystrophy, Type Ii

Short Rib-Polydactyly Syndrome Type Iia

Short Rib-Polydactyly Syndrome Type 2

Short Rib-Polydactyly Syndrome Type Ii

Short Rib-Polydactyly Syndrome, Type Ii

Srps, Type Ii

Short Rib-Polydactyly Syndrome, Type Iia

Polydactyly With Neonatal Chondrodystrophy Type 2

Srps Type 2

Short Rib-Polydactyly Syndrome Majewski Type

Polydactyly With Neonatal Chondrodystrophy Type Ii

Short Rib-Polydactyly Syndrome 2a

Srps Type Ii
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 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-157562 DS68591889 99.18% 否
HY-158145 DS55980254 Inhibitor 99.65% 否
HY-RS11361 PTDSS1 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 PTDSS1 VGNC VGNC:45136
Rattus norvegicus PTDSS1 RGD RGD:1308949
Mus musculus PTDSS1 MGD MGI:1276575
Macaca mulatta PTDSS1 VGNC VGNC:76465
Bos taurus PTDSS1 VGNC VGNC:33495
Felis catus PTDSS1 VGNC VGNC:69137
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