2. Gene
  3. PISD - phosphatidylserine decarboxylase Gene

PISD - phosphatidylserine decarboxylase Gene

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

中文名称：磷脂酰丝氨酸脱羧酶

种属: Homo sapiens

同用名: PSD; LIBF; PSDC; PSSC; DJ858B16; dJ858B16.2

基因 ID: 23761 | 基因类型: protein coding

关于 PISD

Cytogenetic location: 22q12.2 Genomic coordinates (GRCh38): 22:31,618,491-31,662,564 (from NCBI)

This gene has 17 transcripts (splice variants), 201 orthologues and is associated with 2 phenotypes. Ubiquitous expression in placenta (RPKM 30.5), fat (RPKM 25.3) and 25 other tissues.

功能概要

由该基因编码的蛋白质催化线粒体内膜中的磷脂酰丝氨酸转化为磷脂酰乙醇胺。编码的蛋白质在磷脂代谢和磷脂酰丝氨酸的细胞器间运输中具有活性。[RefSeq 提供，2016 年 5 月]

The protein encoded by this gene catalyzes the conversion of phosphatidylserine to phosphatidylethanolamine in the inner mitochondrial membrane. The encoded protein is active in phospholipid metabolism and interorganelle trafficking of phosphatidylserine. [provided by RefSeq, May 2016]

PISD 基因产物(13)

mRNA Protein Name
NM_001326411.2 NP_001313340.1 phosphatidylserine decarboxylase proenzyme, mitochondrial isoform a
NM_001326412.1 NP_001313341.1 phosphatidylserine decarboxylase proenzyme, mitochondrial isoform b
NM_001326413.2 NP_001313342.1 phosphatidylserine decarboxylase proenzyme, mitochondrial isoform c
NM_001326414.2 NP_001313343.1 phosphatidylserine decarboxylase proenzyme, mitochondrial isoform c
NM_001326415.2 NP_001313344.1 phosphatidylserine decarboxylase proenzyme, mitochondrial isoform d
NM_001326416.2 NP_001313345.1 phosphatidylserine decarboxylase proenzyme, mitochondrial isoform d
NM_001326417.2 NP_001313346.1 phosphatidylserine decarboxylase proenzyme, mitochondrial isoform d
NM_001326418.2 NP_001313347.1 phosphatidylserine decarboxylase proenzyme, mitochondrial isoform e precursor
NM_001326419.2 NP_001313348.1 phosphatidylserine decarboxylase proenzyme, mitochondrial isoform f
NM_001326420.2 NP_001313349.1 phosphatidylserine decarboxylase proenzyme, mitochondrial isoform g precursor
NM_001326421.1 NP_001313350.1 phosphatidylserine decarboxylase proenzyme, mitochondrial isoform h
NM_014338.4 NP_055153.1 phosphatidylserine decarboxylase proenzyme, mitochondrial isoform d
NM_178022.2 NP_821141.1 phosphatidylserine decarboxylase proenzyme, mitochondrial isoform d
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables phosphatidylserine decarboxylase activity IMP
IMP: 通过突变表型推断
30858161 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in lipid droplet formation IMP
IMP: 通过突变表型推断
33593792 GOA
involved in mitochondrial protein catabolic process IMP
IMP: 通过突变表型推断
30858161 GOA
involved in phosphatidylethanolamine biosynthetic process IMP
IMP: 通过突变表型推断
30488656 GOA
involved in regulation of mitochondrion organization IMP
IMP: 通过突变表型推断
30858161 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in lipid droplet IDA
IDA: 通过直接分析推断
33593792 GOA
located in mitochondrion IDA
IDA: 通过直接分析推断
30858161 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

PISD 蛋白结构

PS_Dcarbxylase

PS_Dcarbxylase: Phosphatidylserine decarboxylase (165 - 407)

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

phosphatidylserine decarboxylase proenzyme, mitochondrial

关联疾病

疾病名称 别名
Liberfarb Syndrome

LIBF

Spondyloepimetaphyseal Dysplasia, Liberfarb Type

Semdlibf
Short Stature-Skeletal Dysplasia-Retinal Degeneration-Intellectual Disability-Sensorineural Hearing Loss Syndrome

Liberfarb Syndrome
Neuronopathy, Distal Hereditary Motor, Type Viia

HMN7A

Hmn Viia

Dhmn7a

Neuropathy, Distal Hereditary Motor, Type Viia

Dhmnvp

Harper-Young Myopathy

Distal Hereditary Motor Neuronopathy Type 7a

Distal Hereditary Motor Neuropathy Type Viia

Neuronopathy, Distal Hereditary Motor, Type 7a

Spinal Muscular Atrophy, Distal, With Vocal Cord Paralysis

Distal Spinal Muscular Atrophy With Vocal Cord Paralysis Type 7a

Harper-Young Myopath

Neuronopathy, Distal Hereditary Motor, 7a

Distal Hereditary Motor Neuronopathy Type Viia

Distal Hereditary Motor Neuropathy With Vocal Cord Paralysis

Distal Spinal Muscular Atrophy With Vocal Cord Paralysis

Neuropathy, Motor, Distal, Hereditary, Type Viia
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
Retinal Degeneration

Degeneration Of Retina
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
Sensorineural Hearing Loss

Sensory Hearing Loss

Sensorineural Deafness

Sensorineural Hearing Loss Disorder

Hearing Loss, Sensorineural

Central Hearing Loss

High Frequency Deafness

High Frequency Hearing Loss

High-Frequency Hearing Loss

Perceptive Deafness

Perceptive Hearing Loss

Perceptive Hearing Loss Or Deafness

Hearing Loss Sensorineural

Deafness Sensorineural

Hearing Loss High-Frequency

Hearing Loss, Central

Hearing Loss, High-Frequency
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
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-RS10573 PISD Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus PISD MGD MGI:2445114
Felis catus PISD VGNC VGNC:68866
Bos taurus PISD VGNC VGNC:32917
Canis familiaris PISD VGNC VGNC:44581
Macaca mulatta PISD VGNC VGNC:76005
Rattus norvegicus PISD RGD RGD:1596729
嗨！很高兴为您提供帮助！

尊敬的 MCE 客户您好，
请您选择所在区域，我们将转接对应客服为您服务！

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z

热 A B C F G H J L N Q S T X Y Z