GLMN - glomulin, FKBP associated protein Gene

Also Known as FAP; GVM; GLML; FAP48; FAP68; FKBPAP; VMGLOM

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 11146

About 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.

Summary

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 Products (2)

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables hepatocyte growth factor receptor binding	IDA IDA: Inferred from direct assay	11571281	GOA
enables hepatocyte growth factor receptor binding	IPI IPI: Inferred from physical interaction	11571281	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11164950	GOA
enables signaling receptor binding	IDA IDA: Inferred from direct assay	8955134	GOA
enables ubiquitin protein ligase binding	IDA IDA: Inferred from direct assay	22405651	GOA
enables ubiquitin-protein transferase inhibitor activity	IGI IGI: Inferred from genetic interaction	22405651	GOA

Biological Process GO Annotation	Evidence	References	Source
acts upstream of or within cell surface receptor signaling pathway	IDA IDA: Inferred from direct assay	12604780	GOA
involved in epigenetic regulation of gene expression	IMP IMP: Inferred from mutant phenotype	12604780	GOA
involved in muscle cell differentiation	IMP IMP: Inferred from mutant phenotype	11845407	GOA
involved in negative regulation of T cell proliferation	IDA IDA: Inferred from direct assay	12604780	GOA
acts upstream of or within negative regulation of cell population proliferation	IDA IDA: Inferred from direct assay	12604780	GOA
involved in positive regulation of cytokine production	IMP IMP: Inferred from mutant phenotype	12604780	GOA
acts upstream of or within positive regulation of interleukin-2 production	IDA IDA: Inferred from direct assay	12604780	GOA
involved in positive regulation of interleukin-2 production	IMP IMP: Inferred from mutant phenotype	12604780	GOA
involved in positive regulation of phosphorylation	IDA IDA: Inferred from direct assay	11571281	GOA
acts upstream of or within regulation of proteasomal ubiquitin-dependent protein catabolic process	IMP IMP: Inferred from mutant phenotype	22405651	GOA
involved in vasculogenesis	IMP IMP: Inferred from mutant phenotype	11845407	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of Cul2-RING ubiquitin ligase complex	IPI IPI: Inferred from physical interaction	22405651	GOA
part of Cul3-RING ubiquitin ligase complex	IPI IPI: Inferred from physical interaction	22405651	GOA
part of Cul4A-RING E3 ubiquitin ligase complex	IPI IPI: Inferred from physical interaction	22405651	GOA
part of cullin-RING ubiquitin ligase complex	IPI IPI: Inferred from physical interaction	22405651	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GLMN Protein Structure

Kinetochor_Ybp2

0
100
200
300
400
500
594 a.a.

Protein Preferred Names	Protein Names
glomulin	FK506-binding protein-associated protein

GLMN Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	GLMN	Q92990	FKBP4	Homo sapiens	Q02790	Y2H Array	32296183
Intra	GLMN	Q92990	FKBP4	Homo sapiens	Q02790	Y2H Prey Pooling	32296183
Intra	GLMN	Q92990	FKBP4	Homo sapiens	Q02790	Anti Tag CoIP	33961781
Intra	GLMN	Q92990	EFS	Homo sapiens	O43281-2	Y2H Prey Pooling	32296183
Intra	GLMN	Q92990	EFS	Homo sapiens	O43281-2	Y2H Array	32296183
Intra	GLMN	Q92990	PEX5	Homo sapiens	P50542-3	Y2H Array	32296183
Intra	GLMN	Q92990	PEX5	Homo sapiens	P50542-3	Y2H Prey Pooling	32296183
Intra	GLMN	Q92990	RBX1	Homo sapiens	P62877	Y2H Array	32296183
Intra	GLMN	Q92990	RBX1	Homo sapiens	P62877	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

GLMN Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P810101	Glomulin Antibody (YA9445)	WB, ICC/IF, IF-Tissue, IP, ELISA	human

Related Diseases

Diseases	Alias
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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05483	GLMN Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	GLMN	NCBI