PHGDH - phosphoglycerate dehydrogenase Gene

中文名称：磷酸甘油酸脱氢酶

种属: Homo sapiens

同用名: NLS; PDG; PGD; NLS1; PGAD; PGDH; SERA; 3PGDH; 3-PGDH; PHGDHD; HEL-S-113

基因 ID: 26227 | 基因类型: protein coding

关于 PHGDH

Cytogenetic location: 1p12 Genomic coordinates (GRCh38): 1:119,711,934-119,744,215 (from NCBI)

This gene has 34 transcripts (splice variants), 217 orthologues, 3 paralogues and is associated with 5 phenotypes. Broad expression in fat (RPKM 36.0), skin (RPKM 33.6) and 23 other tissues.

功能概要

该基因编码参与动物细胞 L-丝氨酸合成早期步骤的酶。 D-丝氨酸和其他氨基酸合成需要 L-丝氨酸。该酶需要 NAD/NADH 作为辅助因子并形成同源四聚体以发挥活性。在一个患有先天性小头畸形、精神运动迟缓和其他症状的家族中发现了该基因的突变。已发现多个选择性剪接的转录本变体，但大多数的全长性质尚不清楚。[RefSeq 提供，2011 年 8 月]

This gene encodes the Enzyme which is involved in the early steps of L-serine synthesis in animal cells. L-serine is required for D-serine and Other amino acid synthesis. The Enzyme requires NAD/NADH as a cofactor and forms homotetramers for activity. Mutations in this gene have been found in a family with congenital microcephaly, psychomotor retardation and Other symptoms. Multiple alternatively spliced transcript variants have been found, however the full-length nature of most are not known. [provided by RefSeq, Aug 2011]

PHGDH 基因产物(9)

mRNA	Protein	Name
XM_047417680.1	XP_047273636.1	D-3-phosphoglycerate dehydrogenase isoform X4
XM_011541228.3	XP_011539530.1	D-3-phosphoglycerate dehydrogenase isoform X3
XM_011541227.3	XP_011539529.1	D-3-phosphoglycerate dehydrogenase isoform X2
XM_047417682.1	XP_047273638.1	D-3-phosphoglycerate dehydrogenase isoform X5
NM_032692.1
XM_011541226.3	XP_011539528.1	D-3-phosphoglycerate dehydrogenase isoform X1
XM_047417683.1	XP_047273639.1	D-3-phosphoglycerate dehydrogenase isoform X6
NM_006623.4	NP_006614.2	D-3-phosphoglycerate dehydrogenase
XR_007058634.1

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	25036637	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

PHGDH 蛋白结构

2-Hacid_dh

2-Hacid_dh_C

0
100
200
300
400
500
533 a.a.

蛋白主名

其他名称

D-3-phosphoglycerate dehydrogenase

2-oxoglutarate reductase	3-phosphoglycerate dehydrogenase
epididymis secretory protein Li 113	malate dehydrogenase

PHGDH 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
种属内	PHGDH	O43175	EPN1	Homo sapiens	Q9Y6I3	Anti Tag CoIP	25036637
种属内	PHGDH	O43175	EPN1	Homo sapiens	Q9Y6I3	Anti Tag CoIP	33961781
种属内	PHGDH	O43175	EPN1	Homo sapiens	Q9Y6I3	Anti Tag CoIP	35271311

种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 PHGDH 蛋白

目录号	产品名	蛋白编号	纯度
HY-P74633A	PHGDH Protein, Human (C-His)	O43175 (M1-F533)	≥95%

关联疾病

疾病名称

别名

Retinitis Pigmentosa 61

RP61	Retinitis Pigmentosa, Type 61

Phosphoglycerate Dehydrogenase Deficiency

Phgdh Deficiency	3-Phosphoglycerate Dehydrogenase Deficiency
PHGDHD	3-Pgdh Deficiency
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Phgdh Deficiency, Infantile/Juvenile Form
Deficiency, Phosphoglycerate Dehydrogenase

Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly

Asphyxiating Thoracic Dystrophy 2	SRTD2
Atd2	Jatd
Jeune Asphyxiating Thoracic Dystrophy	Jeune Syndrome 2

Neu-Laxova Syndrome Due To 3-Phosphoglycerate Dehydrogenase Deficiency

3-Phosphoglycerate Dehydrogenase Deficiency, Prenatal Form

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Ichthyosis

Ichthyoses	Non-Syndromic Ichthyosis
Congenital Ichthyosis

Ectropion

Ectropion Of Eyelid	Everted Margin
Eversion Of The Eyelid	Eyelashes Turned Out
Eyelid Everted	Eyelid Turned Out
Unspecified Ectropion Of Unspecified Eye

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis	ALS
Lou Gehrig Disease	Amyotrophic Lateral Sclerosis Type 1
Charcot Disease	ALS1
Amyotrophic Lateral Sclerosis, Susceptibility To	Fals
Lou Gehrig'S Disease	Mnd
Motor Neuron Disease	Familial Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 1, Familial	Amyotrophic Lateral Sclerosis 1, Autosomal Dominant
Motor Neuron Disease, Bulbar	Motor Neurone Disease
Amyotrophic Lateral Sclerosis With Dementia	Dementia With Amyotrophic Lateral Sclerosis
Motor Neuron Disease, Amyotrophic Lateral Sclerosis	Sclerosis, Lateral, Amyotrophic
Sclerosis, Lateral, Amyotrophic, Type 1	Amyotrophic Sclerosis
Als - [Amyotrophic Lateral Sclerosis]	Wasting Palsy
Amyotrophic Paralysis	Amyotrophy Lateral Sclerosis
Wasting Paralysis	Spinal Progressive Amyotrophy
Progressive Atrophic Paralysis

Phosphoserine Aminotransferase Deficiency

Psat Deficiency	PSATD
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Psat Deficiency, Infantile/Juvenile Form
Deficiency, Phosphoserine Aminotransferase

Neu-Laxova Syndrome 1

Neu-Laxova Syndrome	NLS1
Nls	Neu Laxova Syndrome
3-Phosphoglycerate Dehydrogenase Deficiency, Neonatal Form

Lissencephaly

Pachygyria	Broad Gyri Of Cerebrum
Large Gyri Of Cerebrum	Macrogyria

Serine Deficiency

Familial Thyroid Dyshormonogenesis

Thyroid Dyshormonogenesis

Familial Dyshormonogenetic Goiter

Split-Hand/Foot Malformation 2

SHFM2	Shfd2
Shsf2	Split Hand/Foot Malformation 2
Split Hand-Foot Malformation 2	Split-Hand/Split-Foot Anomaly, X-Linked
Split-Hand/Foot Deformity 2	Split Hand/Foot Malformation X-Linked
Split Hand Foot Anomaly - X-Linked	Split Hand Foot Deformity 2

Breast Cancer

Breast Carcinoma	Breast Cancer, Familial
Malignant Neoplasm Of Breast	Male Breast Cancer
Breast Cancer, Susceptibility To	Breast Cancer, Early-Onset
Malignant Tumor Of Breast	Carcinoma Of Male Breast
Breast Cancer, Invasive Ductal	Breast Cancer, Protection Against
Breast Cancer, Somatic	Breast Cancer, Male
Breast Cancer, Lobular, Somatic	Breast Tumor
Mammary Cancer	Mammary Tumor
Malignant Neoplasm Of Male Breast	Mammary Carcinoma
Male Breast Carcinoma	Familial Cancer Of Breast
Invasive Ductal Breast Carcinoma	Breast Cancer Susceptibility
Breast Cancer, Male, Susceptibility To	Breast Cancer, Early-Onset, Susceptibility To
Malignant Tumor Of The Breast	Mammary Neoplasm
Primary Breast Cancer	Neoplasm Of Male Breast
Carcinoma Of Breast	Breast Cancer In Men
Familial Breast Cancer	Cancer Of Breast
BC	Breast Cancer Familial
Breast Cancer Familial Male	Breast Cancer, Familial Male
Breast Male Carcinoma	Breast Neoplasms
Breast Neoplasms, Male	Mammary Tumors
Mammary Carcinomas	Cancer, Breast
Cancer, Breast, Susceptibility	Invasive Breast Ductal Carcinoma
Breast Neoplasm	Susceptibility To Breast Cancer
Mammary Neoplasms	Animal Mammary Neoplasms
Primary Malignant Neoplasm Of Breast	Infiltrating Ductal Carcinoma Of Breast
Infiltrating Duct Carcinoma Of Unspecified Site	Infiltrating Ductular Carcinoma Of Unspecified Site
Invasive Breast Carcinoma Of No Special Type	Microinvasive Carcinoma Of Breast
Carcinoma With Apocrine Differentiation

Cerebellar Hypoplasia

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-101966	NCT-503		99.85%	否
HY-100012	CBR-5884		99.02%	否
HY-141412	D-(-)-3-Phosphoglyceric acid disodium	Inhibitor	≥98.0%	否
HY-117240	NCT-502		99.72%	否
HY-126253	BI-4916		98.55%	否
HY-123269	PKUMDL-WQ-2101	Inhibitor	99.94%	否
HY-126254	BI-4924		99.55%	否
HY-121733	PHGDH-inactive		99.93%	否
HY-148570	PHGDH-IN-3	Inhibitor	98.99%	否
HY-123418	PKUMDL-WQ-2201	Inhibitor	98.72%	否
HY-RS10433	Phgdh Mouse Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-125273	DNS-pE		/	否
HY-145860	PHGDH-IN-2		/	否
HY-RS10432	PHGDH Human Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-RS10434	Phgdh Rat Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-160252	PHGDH-IN-4	Inhibitor	/	否
HY-161456	PHGDH-IN-5	Inhibitor	/	否

直系同源

种属	基因名	来源	基因 ID
Macaca mulatta	PHGDH	VGNC	VGNC:75976
Rattus norvegicus	PHGDH	RGD	RGD:61987
Felis catus	PHGDH	VGNC	VGNC:68824
Bos taurus	PHGDH	VGNC	VGNC:55654
Mus musculus	PHGDH	MGD	MGI:1355330
Others	PHGDH	NCBI

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

PHGDH - phosphoglycerate dehydrogenase Gene

关于 PHGDH

功能概要

PHGDH 基因产物(9)

PHGDH 蛋白结构

PHGDH 蛋白互作信息

重组 PHGDH 蛋白

关联疾病

直系同源

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PHGDH - phosphoglycerate dehydrogenase Gene

关于 PHGDH

功能概要

PHGDH 基因产物(9)

PHGDH 蛋白结构

PHGDH 蛋白互作信息

重组 PHGDH 蛋白

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z