OSGEP - O-sialoglycoprotein endopeptidase Gene

中文名称：O 唾液酸糖蛋白内肽酶

种属: Homo sapiens

同用名: KAE1; TCS3; GCPL1; GAMOS3; OSGEP1; PRSMG1

基因 ID: 55644 | 基因类型: protein coding

关于 OSGEP

Cytogenetic location: 14q11.2 Genomic coordinates (GRCh38): 14:20,446,401-20,454,812 (from NCBI)

This gene has 12 transcripts (splice variants), 203 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in spleen (RPKM 14.4), lymph node (RPKM 12.5) and 25 other tissues.

功能概要

预计可启用 N (6) -L-苏氨酰氨甲酰腺嘌呤合酶活性和金属离子结合活性。参与 tRNA 苏氨酰氨基甲酰腺苷修饰。位于细胞质中；核斑点；和质膜。 EKC/KEOPS 复合体的一部分。涉及 Galloway-Mowat 综合征 3。[由基因组资源联盟提供，2022 年 4 月]

Predicted to enable N(6)-L-threonylcarbamoyladenine synthase activity and metal ion binding activity. Involved in tRNA threonylcarbamoyladenosine modification. Located in cytoplasm; nuclear speck; and plasma membrane. Part of EKC/KEOPS complex. Implicated in Galloway-Mowat syndrome 3. [provided by Alliance of Genome Resources, Apr 2022]

OSGEP 基因产物(1)

mRNA	Protein	Name
NM_017807.4	NP_060277.1	tRNA N6-adenosine threonylcarbamoyltransferase

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 N(6)-L-threonylcarbamoyladenine synthase activity	IDA IDA: 通过直接分析推断	28805828	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	23414517	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in tRNA modification	IDA IDA: 通过直接分析推断	28805828	GOA
involved in tRNA threonylcarbamoyladenosine modification	IDA IDA: 通过直接分析推断	28805828	GOA
involved in tRNA threonylcarbamoyladenosine modification	IMP IMP: 通过突变表型推断	31481669	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of EKC/KEOPS complex	IDA IDA: 通过直接分析推断	27903914	GOA
located in cytoplasm	IDA IDA: 通过直接分析推断	28805828	GOA
located in nucleus	IDA IDA: 通过直接分析推断	27903914	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

OSGEP 蛋白结构

Peptidase_M22

0
100
200
300
335 a.a.

蛋白主名

其他名称

tRNA N6-adenosine threonylcarbamoyltransferase

N6-L-threonylcarbamoyladenine synthase

OSGEP 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	OSGEP	Q9NPF4	LAGE3	Homo sapiens	Q14657	Anti Bait CoIP	17353931
种属内	OSGEP	Q9NPF4	LAGE3	Homo sapiens	Q14657	Anti Tag CoIP	28514442
种属内	OSGEP	Q9NPF4	LAGE3	Homo sapiens	Q14657	Y2H Prey Pooling	32296183
种属内	OSGEP	Q9NPF4	LAGE3	Homo sapiens	Q14657	Y2H Array	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

Galloway-Mowat Syndrome 3

GAMOS3

Galloway-Mowat Syndrome

Galloway Mowat Syndrome	Galloway Syndrome
Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type	Microcephaly Nephrosis Syndrome
Microcephaly, Hiatal Hernia, And Nephrotic Syndrome	Nephrosis Neuronal Dysmigration Syndrome
Microcephaly-Hiatus Hernia-Nephrotic Syndrome	Nephrosis-Neuronal Dysmigration Syndrome

Galloway-Mowat Syndrome 1

Galloway Syndrome	Nephrosis-Neuronal Dysmigration Syndrome
Nephrosis-Microcephaly Syndrome	Camos
Scar5	GAMOS1
Microcephaly, Hiatal Hernia, And Nephrotic Syndrome	Microcephaly, Hiatal Hernia And Nephrotic Syndrome
Cerebellar Ataxia With Mental Retardation, Optic Atrophy, And Skin Abnormalities	Spinocerebellar Ataxia, Autosomal Recessive 5, Formerly
Scar5, Formerly	Spinocerebellar Ataxia Autosomal Recessive 5
Cerebellar Ataxia With Intellectual Disability Optic Atrophy And Skin Abnormalities	Camos Syndrome
Cerebellar Ataxia-Intellectual Disability-Optic Atrophy-Skin Abnormalities Syndrome	Galloway-Mowat Syndrome
Spinocerebellar Ataxia, Autosomal Recessive, 5	Galloway Mowat Syndrome
Spinocerebellar Ataxia, Autosomal Recessive 5

Hypogonadotropic Hypogonadism 2 With Or Without Anosmia

Kallmann Syndrome 2	Kal2
HH2	Hypogonadism, Hypogonadotropic, Type 2 With/Without Anosmia

Nephrotic Syndrome

Finnish Congenital Nephrotic Syndrome	Ns - [Nephrotic Syndrome]
Nephrosis Syndrome	Nephrosis Nos
Glomerular Lesion Nephrosis

Renal Tubular Acidosis

Acidosis Renal Tubular	Acidosis, Renal Tubular
Lightwood-Albright Syndrome	Lightwood Syndrome
Idiopathic Infantile Hypercalcemia - Mild Form	Kidney Tubular Acidosis
Renal Tubule Acidosis	Kidney Acidosis
Renal Acidosis	Renal Hyperchloremic Acidosis
Rta - [Renal Tubular Acidosis]

Galloway-Mowat Syndrome 2

Cerebellar Hypoplasia

Hereditary Elliptocytosis

Congenital Elliptocytosis	Ovalocytosis
Elliptocytosis, Hereditary	He
Elliptocytosis Hereditary	Congenital Ovalocytosis
Elliptocytosis	Hereditary Elliptocytosis With Infantile Poikilocytosis
Hereditary Ovalocytosis	Oval Erythrocytosis
He - [Hereditary Elliptocytosis]	Elliptocytosis Anaemia

Breast Osteosarcoma

Osteogenic Sarcoma Of Breast

Breast Extraskeletal Osteosarcoma

Microcephaly

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

Bladder Calculus

Urinary Bladder Calculi	Urinary Bladder Stone
Bladder Calculi	Bladder Stone
Urinary Bladder Calculus	Vesical Calculi
Vesical Calculus	Vesicolithiasis
Cystolithiasis	Cystic Calculi
Cystic Calculus

Polymicrogyria

Pmg

Renal Tubular Transport Disease

Renal Tubular Transport, Inborn Errors

Inborn Renal Tubular Transport Disorder

Pasteurellosis

Pasteurella Infection	Pasteurella Infections
Pasteurella Infectious Disease	Shipping Fever
Transport Fever

Hereditary Spherocytosis

Congenital Spherocytic Hemolytic Anemia	Spherocytic Anemia
Congenital Spherocytosis	Spherocytosis, Type 1
Minkowski Chauffard Syndrome	Hs
Minkowski-Chauffard Disease	Minkowski-Chauffard Syndrome
Spherocytosis Hereditary	Spherocytosis, Hereditary
Anemia, Hereditary Spherocytic Hemolytic

Lower Urinary Tract Calculus

Calculus Of Lower Urinary Tract

Lissencephaly

Pachygyria	Broad Gyri Of Cerebrum
Large Gyri Of Cerebrum	Macrogyria

Primary Microcephaly

True Microcephaly

Microcephaly, Primary

Benign Epilepsy With Centrotemporal Spikes

Rolandic Epilepsy	Benign Rolandic Epilepsy
Epilepsy, Rolandic	Bcects
Benign Childhood Epilepsy With Centrotemporal Spike	Sylvan Seizures
Becrs	Bects
Bre	Benign Epilepsy Of Childhood With Centrotemporal Spikes
Benign Familial Epilepsy Of Childhood With Rolandic Spikes	Centrotemporal Epilepsy

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-RS09848	OSGEP 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	OSGEP	VGNC	VGNC:44163
Felis catus	OSGEP	VGNC	VGNC:63987
Macaca mulatta	OSGEP	VGNC	VGNC:75641
Rattus norvegicus	OSGEP	RGD	RGD:1308578
Mus musculus	OSGEP	MGD	MGI:1913496
Bos taurus	OSGEP	VGNC	VGNC:32470

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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）

OSGEP - O-sialoglycoprotein endopeptidase Gene

关于 OSGEP

功能概要

OSGEP 基因产物(1)

OSGEP 蛋白结构

OSGEP 蛋白互作信息

关联疾病

直系同源

热门区域

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OSGEP - O-sialoglycoprotein endopeptidase Gene

关于 OSGEP

功能概要

OSGEP 基因产物(1)

OSGEP 蛋白结构

OSGEP 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

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B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z