EMP1 - epithelial membrane protein 1 Gene

Homo sapiens

Also known as TMP; CL-20; EMP-1

Gene ID: 2012 | Gene type: protein coding

About EMP1

Cytogenetic location: 12p13.1 Genomic coordinates (GRCh38): 12:13,196,726-13,219,941 (from NCBI)

This gene has 12 transcripts (splice variants), 269 orthologues and 10 paralogues. Biased expression in esophagus (RPKM 1426.7), gall bladder (RPKM 194.7) and 2 other tissues.

Summary

Involved in bleb assembly and cell death. Located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

EMP1 Products(1)

mRNA	Protein	Name
NM_001423.3	NP_001414.1	epithelial membrane protein 1

EMP1 Protein Structure

PMP22_Claudin

0
100
157 a.a.

Protein Preferred Names

Protein Names

epithelial membrane protein 1

tumor-associated membrane protein

Related Diseases

Diseases

Alias

Endobronchial Lipoma

Perineocele

Dental Abscess

Blount'S Disease

Blount Disease	Tibia Vara
Osteochondrosis Deformans Tibiae	Osteochondrosis Deformans Tibiae, Familial Infantile Type
Familial Infantile Type Osteochondrosis Deformans Tibiae	Blount-Barber Syndrome
Erlacher-Blount Syndrome	Infantile Tibia Vara
Tibia Vara Blount	Blount Disease, Infantile

Hypophosphatemic Rickets, X-Linked Dominant

X-Linked Hypophosphatemia	Xlh
Vitamin D-Resistant Rickets, X-Linked	X-Linked Hypophosphatemic Rickets
XLHR	Hyp
Hypophosphatemic Vitamin D-Resistant Rickets	Hpdr
X-Linked Dominant Hypophosphatemic Rickets	Familial Hypophosphatemic Rickets
Hypophosphatemia, X-Linked	Hypophosphatemia, Vitamin D-Resistant Rickets
Hypophosphatemic Rickets X-Linked Dominant	X-Linked Vitamin D-Resistant Rickets
Hypophophatemia, X-Linked	Hypophophatemic Vitamin D-Resistant Rickets
Hypophosphatemia X-Linked	Vitamin D-Resistant Rickets X-Linked
Vitamin D-Resistant Rickets	Rickets, X-Linked Hypophosphatemic

Progressive Myoclonus Epilepsy 9

Emp9	Pme Type 9
Progressive Myoclonic Epilepsy Due To Lmnb2 Deficiency	Progressive Myoclonus Epilepsy Type 9

Enthesopathy

Rheumatism

Phosphorus Metabolism Disease

Phosphorus Metabolism Disorders	Disorder Of Phosphorus Metabolism
Phosphorus Disorder	Phosphorus Metabolism Disorder

Hypophosphatemic Rickets With Hypercalciuria, Hereditary

Hereditary Hypophosphatemic Rickets With Hypercalciuria	HHRH
Hypophosphatemic Rickets With Hypercalciuria	Hypercalciuric Rickets

Conjunctival Deposit

Hypophosphatemic Rickets, Autosomal Dominant

Autosomal Dominant Hypophosphatemic Rickets	ADHR
Autosomal Dominant Hypophosphatemia	Vitamin D-Resistant Rickets, Autosomal Dominant
Hypophosphatemia, Autosomal Dominant	Autosomal Dominant Vitamin D-Resistant Rickets
Rickets, Hypophosphatemic, Autosomal Dominant

Autosomal Recessive Hypophosphatemic Rickets

Arhr	Hypophosphatemic Rickets, Autosomal Recessive
Autosomal Recessive Hypophosphatemic Vitamin D Refractory Rickets

Subacute Lymphocytic Thyroiditis

Mineral Metabolism Disease

Mineral Metabolism Disorder

Disorder Of Mineral Metabolism

Parathyroid Gland Disease

Parathyroid Diseases	Disease Of Parathyroid Glands
Parathyroid Disease

Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1

Hypophosphatemic Nephrolithiasis/Osteoporosis 1	NPHLOP1
Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1	Nephrolithiasis/Osteoporosis, Hypophosphatemic, Type 1

Fanconi Syndrome

Infantile Nephropathic Cystinosis	Adult Fanconi Syndrome
Congenital Fanconi Syndrome	De Toni-Fanconi Syndrome
Fanconi-De Toni Syndrome	Lignac-Fanconi Syndrome
Fanconi Renotubular Syndrome	Primary Fanconi Renotubular Syndrome
De Toni-Debre-Fanconi Syndrome	Adult Fanconi Anemia
Detoni Fanconi Syndrome	Fanconi-De-Toni Syndrome
Primary Fanconi Syndrome	Detoni-Debre-Fanconi Syndrome
Primary Fanconi Renal Syndrome	Fanconi Anemia
Cystinosis, Infantile Nephropathic	Fanconi-Bickel Syndrome
Renal Fanconi Syndrome	Lowe-Bickel Syndrome

Tumoral Calcinosis, Hyperphosphatemic, Familial, 1

Hyperphosphatemic Familial Tumoral Calcinosis	Hftc
Hyperostosis-Hyperphosphatemia Syndrome	Familial Hyperphosphatemic Tumoral Calcinosis/Hyperphosphatemic Hyperostosis Syndrome
Tumoral Calcinosis, Hyperphosphatemic, Familial	Phptc
Lipocalcinogranulomatosis	Morbus Teutschlaender
Hhs	Hyperostosis With Hyperphosphatemia
Cortical Hyperostosis With Hyperphosphatemia	Primary Hyperphosphatemic Tumoral Calcinosis
Familial Tumoral Calcinosis	HFTC1
Hypercalcemic Tumoral Calcinosis	Hyperphosphatemia Hyperostosis
Hyperphosphatemia Hyperostosis Syndrome	Hyperphosphatemia Tumoral Calcinosis
Tumoral Calcinosis	Calcinosis, Tumoral, With Hyperphosphatemia
Tumoral Calcinosis, Primary Hyperphosphatemic	Teutschlaender Disease, Familial
Familial Teutschlaender Disease	Tumoral Calcinosis With Hyperphosphatemia
Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome	Ftc/Hhs
Familial Tumoral Calcinosis With Hyperphosphatemia	Teutschlaender Disease
Tumoral Calcinosis Primary Hyperphosphatemic	Calcinosis, Tumoral, Hyperphosphatemic, Familial

Schimmelpenning-Feuerstein-Mims Syndrome

Nevus Sebaceus Of Jadassohn	Organoid Nevus Phakomatosis
Linear Nevus Sebaceous Syndrome	Sfm Syndrome
Jadassohn Nevus Phakomatosis	Jnp
Schimmelpenning Syndrome	Solomon Syndrome
SFM	Linear Sebaceous Nevus Syndrome
Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic	Nevus Sebaceus Syndrome
Organoid Nevus Syndrome	Schimmelpenning Feuerstein Mims Syndrome
Sebaceous Nevus Syndrome, Linear	Epidermal Nevus Syndrome, Formerly
Sebaceous Nevus Syndrome Linear	Linear Nevus Sebaceus Syndrome
Epidermal Nevus Syndrome	Ss
Nevus Sebaceous

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04359	EMP1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	EMP1	VGNC	VGNC:40352
Rattus norvegicus	EMP1	RGD	RGD:2552
Mus musculus	EMP1	MGD	MGI:107941
Macaca mulatta	EMP1	VGNC	VGNC:72214
Bos taurus	EMP1	VGNC	VGNC:28481
Others	EMP1	NCBI