GLMN - glomulin, FKBP associated protein Gene

中文名称：球蛋白，FKBP 相关蛋白

种属: Homo sapiens

同用名: FAP; GVM; GLML; FAP48; FAP68; FKBPAP; VMGLOM

基因 ID: 11146 | 基因类型: protein coding

关于 GLMN

Cytogenetic location: 1p22.1 Genomic coordinates (GRCh38): 1:92,246,402-92,370,844 (from NCBI)

This gene has 6 transcripts (splice variants), 267 orthologues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 3.2), brain (RPKM 2.5) and 24 other tissues.

功能概要

该基因编码一种磷酸化蛋白，该蛋白是 Skp1-Cullin-F-box 样复合物的成员。该蛋白质对于脉管系统的正常发育至关重要，该基因的突变与球静脉畸形 (也称为球血管瘤) 有关。已为该基因发现编码不同亚型的多个剪接变体。[RefSeq 提供，2016 年 2 月]

This gene encodes a phosphorylated protein that is a member of a Skp1-Cullin-F-box-like complex. The protein is essential for normal development of the vasculature and mutations in this gene have been associated with glomuvenous malformations, also called glomangiomas. Multiple splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]

GLMN 基因产物(2)

mRNA	Protein	Name
NM_001319683.2	NP_001306612.1	glomulin isoform 2
NM_053274.3	NP_444504.1	glomulin isoform 1

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 hepatocyte growth factor receptor binding	IDA IDA: 通过直接分析推断	11571281	GOA
enables hepatocyte growth factor receptor binding	IPI IPI: 通过物理相互作用推断	11571281	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	11164950	GOA
enables signaling receptor binding	IDA IDA: 通过直接分析推断	8955134	GOA
enables ubiquitin protein ligase binding	IDA IDA: 通过直接分析推断	22405651	GOA
enables ubiquitin-protein transferase inhibitor activity	IGI IGI: 通过遗传相互作用推断	22405651	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
acts upstream of or within cell surface receptor signaling pathway	IDA IDA: 通过直接分析推断	12604780	GOA
involved in epigenetic regulation of gene expression	IMP IMP: 通过突变表型推断	12604780	GOA
involved in muscle cell differentiation	IMP IMP: 通过突变表型推断	11845407	GOA
involved in negative regulation of T cell proliferation	IDA IDA: 通过直接分析推断	12604780	GOA
acts upstream of or within negative regulation of cell population proliferation	IDA IDA: 通过直接分析推断	12604780	GOA
involved in positive regulation of cytokine production	IMP IMP: 通过突变表型推断	12604780	GOA
acts upstream of or within positive regulation of interleukin-2 production	IDA IDA: 通过直接分析推断	12604780	GOA
involved in positive regulation of interleukin-2 production	IMP IMP: 通过突变表型推断	12604780	GOA
involved in positive regulation of phosphorylation	IDA IDA: 通过直接分析推断	11571281	GOA
acts upstream of or within regulation of proteasomal ubiquitin-dependent protein catabolic process	IMP IMP: 通过突变表型推断	22405651	GOA
involved in vasculogenesis	IMP IMP: 通过突变表型推断	11845407	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of Cul2-RING ubiquitin ligase complex	IPI IPI: 通过物理相互作用推断	22405651	GOA
part of Cul3-RING ubiquitin ligase complex	IPI IPI: 通过物理相互作用推断	22405651	GOA
part of Cul4A-RING E3 ubiquitin ligase complex	IPI IPI: 通过物理相互作用推断	22405651	GOA
part of cullin-RING ubiquitin ligase complex	IPI IPI: 通过物理相互作用推断	22405651	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

GLMN 蛋白结构

Kinetochor_Ybp2

0
100
200
300
400
500
594 a.a.

蛋白主名

其他名称

glomulin

FK506-binding protein-associated protein

GLMN 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	GLMN	Q92990	FKBP4	Homo sapiens	Q02790	Y2H Array	32296183
种属内	GLMN	Q92990	FKBP4	Homo sapiens	Q02790	Y2H Prey Pooling	32296183
种属内	GLMN	Q92990	FKBP4	Homo sapiens	Q02790	Anti Tag CoIP	33961781
种属内	GLMN	Q92990	EFS	Homo sapiens	O43281-2	Y2H Prey Pooling	32296183
种属内	GLMN	Q92990	EFS	Homo sapiens	O43281-2	Y2H Array	32296183
种属内	GLMN	Q92990	PEX5	Homo sapiens	P50542-3	Y2H Array	32296183
种属内	GLMN	Q92990	PEX5	Homo sapiens	P50542-3	Y2H Prey Pooling	32296183
种属内	GLMN	Q92990	RBX1	Homo sapiens	P62877	Y2H Array	32296183
种属内	GLMN	Q92990	RBX1	Homo sapiens	P62877	Y2H Prey Pooling	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

Glomuvenous Malformations

Glomuvenous Malformation	Venous Malformations With Glomus Cells
Vmglom	Glomus Tumors, Multiple
Glomangiomatosis	GVM
Glomangiomas, Multiple	Hereditary Multiple Glomangiomas
Multiple Glomus Tumors	GVMS
Malformations, Glomuvenous

Familial Glomangioma

Hereditary Glomangioma

Blue Rubber Bleb Nevus

Bean Syndrome	Blue Rubber Bleb Nevus Syndrome
Brbns	Brbn
Nevus, Blue Rubber Bleb

Glomangioma

Benign Perivascular Tumor

Benign Pericytic Neoplasm

Glomangiomyoma

Glomangiosarcoma

Malignant Glomus Neoplasm

Glomus Tumor, Malignant

Subungual Glomus Tumor

Subungual Glomus Tumour

Klippel-Trenaunay-Weber Syndrome

Klippel-Trenaunay Syndrome	KTS
Ktw Syndrome	Angioosteohypertrophy Syndrome
Angio-Osteohypertrophy Syndrome	Klippel Trenaunay Syndrome
Klippel-Trénaunay-Weber Syndrome	Haemangiectatic Hypertrophy
Weber-Klippel-Trenaunay	Congenital Dysplastic Angiopathy
Klippel-Trenaunay Disease	Weber Klippel Trenaunay

Venous Malformations, Multiple Cutaneous And Mucosal

VMCM	Multiple Cutaneous And Mucosal Venous Malformations
Mucocutaneous Venous Malformations	Vmcm1
Cutaneous And Mucosal Venous Malformation	Dominantly Inherited Venous Malformations

Glomangiomatosis

Stork Bite

Salmon Patch Nevus

Unna'S Nevus

Hemangioma Of Subcutaneous Tissue

Angioma Of The Subcutaneous Tissue	Subcutaneous Haemangioma
Subcutaneous Hemangioma

Angioma Serpiginosum

Angioma Serpiginosum Of Skin

Angioma Serpiginosum, X-Linked

Cataract 14, Multiple Types

Cataract 14 Multiple Types	CTRCT14
Czp3	Cae3
Cataract, Zonular Pulverulent 3	Zonular Pulverulent Cataract 3
Cataract, Zonular Pulverulent-3	Cataract, Type 14, Multiple Types

Glomus Tumor

Glomus Neoplasm

Glomus Tumour

Bacterial Gastritis

Perivascular Tumor

Malignant Perivascular Cancer

Sturge-Weber Syndrome

SWS	Encephalotrigeminal Angiomatosis
Encephalofacial Angiomatosis	Sturge-Weber-Dimitri Syndrome
Sturge-Weber-Krabbe Syndrome	Fourth Phacomatosis
Leptomeningeal Angiomatosis	Meningeal Capillary Angiomatosis
Sturge-Weber-Krabbe Angiomatosis	Sturge-Weber Syndrome, Somatic, Mosaic
Sws Type I - Facial And Leptomeningeal Angiomas	Sws Type Ii - Facial Angioma Alone, No Cns Involvement
Sws Type Iii - Isolated Leptomeningeal Angiomas	Sturge Weber Syndrome
Angiomatosis Aculoorbital-Thalamic Syndrome	Encephalofacial Hemangiomatosis
Encephalofacial Hemangiomatosis Syndrome	Meningo-Oculo-Facial Angiomatosis
Meningofacial Angiomatosis-Cerebral Calcification Syndrome	Neuroretinoangiomatosis
Phakomatosis, Sturge-Weber	Weber-Sturge-Dimitri Syndrome

Hyperphenylalaninemia, Bh4-Deficient, A

6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pts Deficiency
HPABH4A	Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To Pts Deficiency
Ptsd	Bh4-Deficient Hyperphenylalaninemia A
Hyperphenylalaninemia Due To 6-Pyruvoyltetrahydropterin Synthase Deficiency	Tetrahydobioperin-Deficient Hyperphenylalaninemia Due To Pts Deficiency
Hyperphenylalanemia, Bh4-Deficient, A	Hyperphenylalaninemia Due To 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
6-Pyruvoyltetrahydropterin Synthase Deficiency	Hyperphenylalaninemia Tetrahydrobiopterin-Deficient Due To Pts Deficiency
Ptpsd	Hyperphenylalaninemia, Bh4-Deficient, Type A

Vascular Disease

Vascular Diseases	Aneurysm
Spinal Cord Ischemia	Vascular Anomaly
Spinal Cord Vascular Diseases	Vascular Tissue Disease

Yaws

Frambesia	Frambesia Tropica
Bouba	Frambosie
Polypapilloma Tropicum	Thymosis
Endemic Treponematoses	Treponema Pertenue Infection
Pian	Framboesia
Framboesia Tropica	Castellani
Infection By Treponema Pertenue	Parangi
Framboesioma	Chancre Of Yaws
Primary Framboesia	Initial Lesions Of Yaws
Mother Yaw	Initial Framboesia

Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi

Cloves Syndrome	Clove Syndrome
Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, And Skeletal/Spinal Abnormalities	Clove Syndrome, Somatic
Nevus	Congenital Lipomatous Overgrowth - Vascular Malformation - Epidermal Nevi
Congenital Lipomatous Overgrowth-Vascular Malformation-Epidermal Nevi-Skeletal Anomaly Syndrome	Congenital Lipomatous Overgrowth-Vascular Malformation-Epidermal Nevi-Spinal Anomaly Syndrome
CLOVE	Congenital Lipomatous Overgrowth Vascular Malformations Epidermal Nevi And Skeletal/Spinal Abnormalities
Congenital Arteriovenous Malformation	Arteriovenous Hemangioma
Melanocytic Nevus	Benign Melanocytic Nevus

Spindle Cell Hemangioma

Sch	Spindle Cell Hemangioendothelioma

Proteus Syndrome

Proteus Syndrome, Somatic	Partial Gigantism-Nevi-Hemihypertrophy-Macrocephaly Syndrome
Gigantism, Partial, Of Hands And Feet, Nevi, Hemihypertrophy, And Macrocephaly	Wiedemann'S Syndrome
Hemihypertrophy And Macrocephaly	Partial Gigantism Of Hands And Feet, Nevi, Hemihypertrophy, Macrocephaly
Ps	PROTEUSS
Partial Gigantism Of Hands And Feet Nevi Hemihypertrophy And Macrocephaly

Arteriovenous Malformation

Arteriovenous Malformations	Arteriovenous Hemangioma
Cirsoid Aneurysm	Racemose Aneurysm
Racemose Angioma	Racemose Hemangioma
Congenital Arteriovenous Malformation

Nevus, Epidermal

Epidermal Nevus	Woolly Hair Nevus
Epidermal Naevus	Epidermal Nevus Syndrome
Nevus, Keratinocytic, Nonepidermolytic	Epidermal Nevus, Somatic
Nevus, Epidermal, Somatic	Nevus Sebaceous Or Woolly Hair Nevus, Somatic
Nonepidermolytic Keratinocytic Nevus	Epidermal Hamartoma Syndrome
Wooly Hair Nevus	Keratinocytic Non-Epidermolytic Nevus
KNEN	Pigmented Moles
Organoid Nevus Phakomatosis	Nevus Sebaceous
Melanocytic Nevus	Melanocytic Nevus Of Skin

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-RS05483	GLMN Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Felis catus	GLMN	VGNC	VGNC:62582
Rattus norvegicus	GLMN	RGD	RGD:1588600
Canis familiaris	GLMN	VGNC	VGNC:41264
Mus musculus	GLMN	MGD	MGI:2141180
Macaca mulatta	GLMN	VGNC	VGNC:72941
Bos taurus	GLMN	VGNC	VGNC:29408

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）
Copyright © 2013-2025 MedChemExpress. All Rights Reserved.

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）

GLMN - glomulin, FKBP associated protein Gene

关于 GLMN

功能概要

GLMN 基因产物(2)

GLMN 蛋白结构

GLMN 蛋白互作信息

关联疾病

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z

姓名
邮箱 *

Sorry, but the email address you supplied was invalid.

GLMN - glomulin, FKBP associated protein Gene

关于 GLMN

功能概要

GLMN 基因产物(2)

GLMN 蛋白结构

GLMN 蛋白互作信息

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