2. Gene
  3. PSAT1 - phosphoserine aminotransferase 1 Gene

PSAT1 - phosphoserine aminotransferase 1 Gene

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

中文名称：磷酸丝氨酸氨基转移酶 1

种属: Homo sapiens

同用名: PSA; EPIP; NLS2; PSAT; PSATD

基因 ID: 29968 | 基因类型: protein coding

关于 PSAT1

Cytogenetic location: 9q21.2 Genomic coordinates (GRCh38): 9:78,297,125-78,330,093 (from NCBI)

This gene has 2 transcripts (splice variants), 208 orthologues, 1 paralogue and is associated with 5 phenotypes. Biased expression in brain (RPKM 69.9), liver (RPKM 61.3) and 13 other tissues.

功能概要

该基因编码 V 类磷酸吡哆醛依赖性氨基转移酶家族的成员。编码的蛋白质是一种磷酸丝氨酸氨基转移酶，表达降低可能与精神分裂症有关。该基因的突变也与磷酸丝氨酸氨基转移酶缺乏症有关。可变剪接导致多个转录本变体。该基因的假基因已在 1、3 和 8 号染色体上定义。[RefSeq 提供，2013 年 7 月]

This gene encodes a member of the class-V pyridoxal-phosphate-dependent aminotransferase family. The encoded protein is a phosphoserine aminotransferase and decreased expression may be associated with schizophrenia. Mutations in this gene are also associated with phosphoserine aminotransferase deficiency. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene have been defined on chromosomes 1, 3, and 8. [provided by RefSeq, Jul 2013]

PSAT1 基因产物(2)

mRNA Protein Name
NM_021154.5 NP_066977.1 phosphoserine aminotransferase isoform 2
NM_058179.4 NP_478059.1 phosphoserine aminotransferase 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 O-phospho-L-serine:2-oxoglutarate aminotransferase activity IDA
IDA: 通过直接分析推断
37627284 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32814053 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in L-serine biosynthetic process IDA
IDA: 通过直接分析推断
37627284 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

PSAT1 蛋白结构

Aminotran_5

Aminotran_5: Aminotransferase class-V (7 - 357)

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

phosphoserine aminotransferase

endometrial progesterone-induced protein

重组 PSAT1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P78999 PSAT1 Protein, Human (His) Q9Y617-1 (M1-L370) ≥95%

关联疾病

疾病名称 别名
Phosphoserine Aminotransferase Deficiency

Psat Deficiency

PSATD

Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form

Psat Deficiency, Infantile/Juvenile Form

Deficiency, Phosphoserine Aminotransferase
Neu-Laxova Syndrome 2

NLS2
Neu-Laxova Syndrome Due To Phosphoserine Aminotransferase Deficiency

Phosphoserine Aminotransferase Deficiency, Prenatal Form
Serine Deficiency
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
Ectropion

Ectropion Of Eyelid

Everted Margin

Eversion Of The Eyelid

Eyelashes Turned Out

Eyelid Everted

Eyelid Turned Out

Unspecified Ectropion Of Unspecified Eye
Neu-Laxova Syndrome 1

Neu-Laxova Syndrome

NLS1

Nls

Neu Laxova Syndrome

3-Phosphoglycerate Dehydrogenase Deficiency, Neonatal Form
Prostatic Cyst

Cyst Of Prostate
Prostate Cancer

Prostate Carcinoma

Prostate Cancer, Familial

Prostate Neoplasm

Prostate Cancer, Somatic

Prostate Cancer, Susceptibility To

Prostatic Cancer

Prostatic Neoplasms

Hereditary Prostate Cancer

Prostatic Neoplasm

Cancer Of Prostate

Carcinoma Of Prostate

Familial Prostate Cancer

Familial Prostate Carcinoma

Malignant Tumor Of Prostate

Malignant Neoplasm Of Prostate

Prostate Cancer, Familial, Susceptibility To

Malignant Tumor Of The Prostate

Ngp - New Growth Of Prostate

Tumor Of The Prostate

Prostate Cancer, Hereditary

Cancer Of The Prostate

Malignant Neoplasm Of The Prostate

Prostatic Carcinoma

PC

Prca

Cancer, Prostate

Malignant Prostatic Tumour

Malignant Tumour Of Prostate

Primary Prostate Cancer

Primary Malignant Neoplasm Of Prostate

Prostate Gland Cancer
Granulomatous Amebic Encephalitis

Granulomatous Amoebic Encephalitis

Acanthamoeba Encephalitis

Acanthamoeba Granulomatous Encephalitis

Granulomatous Amebic Encephalitis Due To Acanthamoeba
Primary Amebic Meningoencephalitis

Pam

Naegleria Fowleri Infection

Meningoencephalitis Caused By Naegleria Fowleri

Primary Amoebic Meningoencephalitis
Ichthyosis

Ichthyoses

Non-Syndromic Ichthyosis

Congenital Ichthyosis
Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1
Lissencephaly

Pachygyria

Broad Gyri Of Cerebrum

Large Gyri Of Cerebrum

Macrogyria
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly

Asphyxiating Thoracic Dystrophy 2

SRTD2

Atd2

Jatd

Jeune Asphyxiating Thoracic Dystrophy

Jeune Syndrome 2
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-RS11270 PSAT1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus PSAT1 RGD RGD:735170
Mus musculus PSAT1 MGD MGI:2183441
Felis catus PSAT1 VGNC VGNC:64409
Macaca mulatta PSAT1 VGNC VGNC:109571
Bos taurus PSAT1 VGNC VGNC:55075
Canis familiaris PSAT1 VGNC VGNC:45081
Others PSAT1 NCBI
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