AMPH - amphiphysin Gene

Homo sapiens

Also known as AMPH1

Gene ID: 273 | Gene type: protein coding

About AMPH

Cytogenetic location: 7p14.1 Genomic coordinates (GRCh38): 7:38,383,704-38,631,373 (from NCBI)

This gene has 9 transcripts (splice variants), 129 orthologues and 3 paralogues. Biased expression in brain (RPKM 20.2), endometrium (RPKM 1.4) and 4 other tissues.

Summary

This gene encodes a protein associated with the cytoplasmic surface of synaptic vesicles. A subset of patients with stiff-man syndrome who were also affected by breast Cancer are positive for autoantibodies against this protein. Alternate splicing of this gene results in two transcript variants encoding different isoforms. Additional splice variants have been described, but their full length sequences have not been determined. A pseudogene of this gene is found on chromosome 11.[provided by RefSeq, Nov 2010]

AMPH Products(2)

mRNA	Protein	Name
NM_001635.4	NP_001626.1	amphiphysin isoform 1
NM_139316.3	NP_647477.1	amphiphysin isoform 2

AMPH Protein Structure

BAR

SH3_9

0
200
400
600
695 a.a.

Protein Preferred Names

Protein Names

amphiphysin

amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)

Related Diseases

Diseases

Alias

Stiff-Person Syndrome

SPS	Stiff-Man Syndrome
Stiff Man Syndrome	Stiff Person Syndrome
Moersch-Woltman Syndrome	Sms
Stiff-Trunk Syndrome	Morsch Woltman Syndrome
Stiff Person Syndrome And Related Disorders	Stiff Person Spectrum Disorder
Classic Stiff Person Syndrome	Classic Sps
Focal Stiff Limb Syndrome	Focal Stiff-Person Syndrome
Stiff Leg Syndrome	Progressive Encephalomyelitis With Rigidity

Limbic Encephalitis

Myelitis

Spinal Cord Inflammation Nos	Radiculomyelitis Nos
Myeloradiculitis

Lambert-Eaton Myasthenic Syndrome

Lambert-Eaton Syndrome	Eaton-Lambert Syndrome
Lems	Lambert Eaton Myasthenic Syndrome
Eaton Lambert Syndrome	Lambert Eaton Syndrome
Myasthenic Syndrome Of Lambert-Eaton	Myasthenic-Myopathic Syndrome Of Lambert-Eaton
Lems - [Lambert-Eaton Myasthenic Syndrome]

Myopathy, Centronuclear, 2

Myopathy, Centronuclear, Autosomal Recessive	Autosomal Recessive Centronuclear Myopathy
CNM2	Centronuclear Myopathy 2
Ar-Cnm	Myotubular Myopathy, Autosomal Recessive
Autosomal Recessive Myotubular Myopathy	Centronuclear Myopathy Autosomal Recessive
Myopathy, Centronuclear, Type 2

Bilateral Hypoactive Labyrinth

Hypoactive Bilateral Labyrinthine Dysfunction

Hypoactive Labyrinth, Bilateral

Paraneoplastic Cerebellar Degeneration

Pcd	Paraneoplastic Cerebellar Ataxia
Rapidely Progressive Cerebellar Syndrome	Subacute Cerebellar Degeneration

Autoimmune Epilepsy

Breast Cancer

Breast Carcinoma	Male Breast Cancer
Breast Cancer, Familial	Malignant Neoplasm Of Breast
Breast Cancer, Susceptibility To	Breast Cancer, Early-Onset
Malignant Tumor Of Breast	Carcinoma Of Male Breast
Breast Cancer, Invasive Ductal	Breast Cancer, Protection Against
Breast Cancer, Somatic	Breast Cancer, Male
Breast Cancer, Lobular, Somatic	Breast Tumor
Mammary Cancer	Mammary Tumor
Malignant Neoplasm Of Male Breast	Mammary Carcinoma
Male Breast Carcinoma	Familial Cancer Of Breast
Invasive Ductal Breast Carcinoma	Breast Cancer Susceptibility
Breast Cancer, Male, Susceptibility To	Breast Cancer, Early-Onset, Susceptibility To
Malignant Tumor Of The Breast	Mammary Neoplasm
Primary Breast Cancer	Neoplasm Of Male Breast
Carcinoma Of Breast	Breast Cancer In Men
Familial Breast Cancer	Cancer Of Breast
BC	Breast Cancer Familial
Breast Cancer Familial Male	Breast Cancer, Familial Male
Breast Male Carcinoma	Breast Neoplasms
Breast Neoplasms, Male	Mammary Tumors
Mammary Carcinomas	Cancer, Breast
Cancer, Breast, Susceptibility	Invasive Breast Ductal Carcinoma
Breast Neoplasm	Susceptibility To Breast Cancer
Mammary Neoplasms	Animal Mammary Neoplasms
Primary Malignant Neoplasm Of Breast	Infiltrating Ductal Carcinoma Of Breast
Infiltrating Duct Carcinoma Of Unspecified Site	Infiltrating Ductular Carcinoma Of Unspecified Site
Invasive Breast Carcinoma Of No Special Type	Microinvasive Carcinoma Of Breast
Carcinoma With Apocrine Differentiation

Inner Ear Disease

Labyrinthine Dysfunction	Diseases Of Inner Ear
Labyrinthine Disease	Abnormality Of The Inner Ear
Labyrinth Diseases	Labyrinthine Disorder
Nonfunctioning Labyrinth	Labyrinthine Loss Of Function
Labyrinthine Syndrome	Labyrinthine Disorder Nos

Thymoma

Primary Thymic Epithelial Neoplasm	Primary Thymic Epithelial Tumor
Thymus Neoplasms

Postinfectious Encephalitis

Postinfective Encephalitis

Secondary Encephalitis

Encephalitis

Mumps Encephalitis	Mumps Meningoencephalitis
Herpes Simplex Neuroinvasion	Herpetic Encephalitis
Herpetic Encephalopathy	Herpes Simplex Encephalitis, Myelitis Or Encephalomyelitis
Encephalitis Due To Herpesviridae	Encephalitis Due To Herpesvirus
Herpes Encephalitis	Herpesviral Encephalitis
Herpes Simplex Encephalitis	Hsv - [Herpes Simplex Virus] Encephalitis
Herpes Virus Encephalitis	Simian B Disease
Simian B Disorder	Encephalitis Nec
Idiopathic Encephalitis

Anterograde Amnesia

Amnesia, Anterograde

Vascular Myelopathy

Vascular Myelopathies

Autoimmune Disease Of Peripheral Nervous System

Polyradiculopathy

Chorea Gravidarum

La Crosse Encephalitis

California Encephalitis	California Virus Encephalitis
Neuroinvasive California Encephalitis Virus Infection	Californian Encephalitis
Encephalitis, California	California Meningoencephalitis
California Encephalitis Virus Infection	California Encephalitis Virus Infection Neuroinvasive Disease
California Meningoencephalitis Virus Disease	California Serogroup Virus Neuroinvasive Disease
California Viral Encephalitis	Ce - [California Encephalitis]
Lac - [La Crosse Encephalitis]

Transverse Myelitis

Myelitis Transverse

Myelitis, Transverse

Cerebellopontine Angle Meningioma

Meningioma Of The Cerebellar Pontine Angle

Acute Disseminated Encephalomyelitis

Acute Disseminated Encephalitis	Adem
Ade	Encephalomyelitis Acute Disseminated
Encephalomyelitis, Acute Disseminated	Adem - [Acute Disseminated Encephalomyelitis]

Miller Fisher Syndrome

Cranial Variant Of Gbs	Fisher'S Syndrome
Miller-Fisher Variant Of Guillain-Barre Syndrome	Miller-Fisher Syndrome
Cranial Variant Of Guillain-Barré Syndrome	Cranial Variant Of Guillain-Barre Syndrome
Fisher Syndrome

Motor Neuron Disease

Anterior Horn Cell Disease	Motor Neuron Diseases
Mnd - [Motor Neurone Disease]	Lou Gehrig Disease
Creeping Palsy	Creeping Paralysis
Bulbar Motor Neuron Disease	Bulbar Syndrome
Anterior Horn Cell Disorder	Hereditary Motor Neuron Disease

Neuromuscular Junction Disease

Neuromuscular Junction Diseases

Gummatous Syphilis

Centronuclear Myopathy

Myopathy, Centronuclear	Myotubular Myopathy
Cnm	Myopathy, Myotubular
Congenital Structural Myopathy

Thymus Gland Disease

Disease Of Thymus Gland

Hyperekplexia

Hereditary Hyperekplexia	Kok Disease
Congenital Stiff Man Syndrome	Familial Startle Disease
Sthe	Stiff-Baby Syndrome
Hereditary Hyperexplexia	Startle Disease
Exaggerated Startle Reaction	Hyperexplexia Hereditary
Startle Disease, Familial	Startle Reaction, Exaggerated
Stiff-Man Syndrome, Congenital	Stiff-Person Syndrome, Congenital
Congenital Stiff-Man Syndrome	Congenital Stiff-Person Syndrome
Familial Hyperekplexia	Startle Syndrome
Stiff Baby Syndrome	Hyperekplexia, Hereditary
Stiff-Person Syndrome

Neurosarcoidosis

Cerebral Sarcoidosis

Thymus Cancer

Thymic Neoplasm	Thymic Tumor
Thymus Neoplasm	Thymus Neoplasms
Malignant Neoplasm Of Thymus	Neoplasm Of Thymus
Thymic Neoplasms	Thymoma, Familial
Thymic Carcinoma	Thymoma, Type C
Cancer Of Thymus	Malignant Tumour Of Thymus
Primary Malignant Neoplasm Of Thymus	Thymic Glandular Cancer
Thymus Gland Cancer

Myopathy, Centronuclear, X-Linked

X-Linked Myotubular Myopathy	Xlmtm
X-Linked Centronuclear Myopathy	Xlcnm
CNMX	Mtm1
Myotubular Myopathy, X-Linked	Mtmx
Myotubular Myopathy 1	Centronuclear Myopathy X-Linked
Myotubular Myopathy	Mtm
Cnm	Xmtm
Myotubular Myopathy Type 1

Meningovascular Neurosyphilis

Mutism

Viral Encephalitis

Epidemic Encephalitis	Encephalitis Viral
Encephalitis, Arbovirus	Arbovirus Encephalitis
Postviral Encephalitis Nos	Equine Encephalitis
Tick-Borne Encephalitis	Viral Encephalitis Transmitted By Tick
Mosquito-Borne Encephalitis	Acute Haemorrhagic Encephalitis
Acute Idiopathic Encephalitis	Chronic Viral Encephalitis
Endemic Encephalitis	Subacute Viral Encephalitis
Viral Haemorrhagic Encephalitis	Viral Nonepidemic Encephalitis
Nonepidemic Encephalitis

Fallopian Tube Serous Adenocarcinoma

Choreatic Disease

Chorea

Hereditary Chorea

Movement Disease

Movement Disorders

Movement Disorder

Cerebellar Disease

Cerebellar Diseases	Cerebellar Dysfunction
Cerebellar Abnormality	Cerebellar Disorders

Stereotypic Movement Disorder

Stereotypy Habit Disorder	Stereotyped Repetitive Movements
Stereotyped Disorder	Stereotypes Nos
Stereotype Habit Disorder

Optic Nerve Disease

Optic Neuropathy	Disorder Of The Second Nerve
Optic Nerve Disorder	Optic Nerve
Abnormality Of The Optic Nerve	Optic Nerve Disorders
Neuropathy, Optic	Disorder Of The Optic Nerve

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Neuromuscular Disease

Neuromuscular Diseases	Neuromuscular Disorders
Neuromuscular Disorder

Parkinson Disease, Late-Onset

Parkinson Disease	Parkinson'S Disease
PD	PARK
Parkinson Disease, Susceptibility To	Late Onset Parkinson'S Disease
Late Onset Parkinson Disease	Paralysis Agitans
Primary Parkinsonism	Idiopathic Parkinson Disease
Parkinson'S	Parkinson Disease, Late-Onset, Susceptibility To
Parkinson Disease, Age Of Onset, Modifier	Lewy Body Parkinson Disease
Idiopathic Parkinson'S Disease	Pd - [Parkinson Disease]
Parkinson Disease Nos	Parkinson, Nos
Primary Parkinson Disease

Peripheral Nervous System Disease

Peripheral Neuropathy	Peripheral Nerve Disease
Peripheral Nerve Disorders	Neuropathy, Peripheral
Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Nervous System Disease

Abnormality Of The Nervous System	Nervous System Diseases
Nervous System Disorder

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-14327	FAUC 213	Antagonist	99.86%	Unkown
HY-RS00669	AMPH Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	AMPH	RGD	RGD:620274
Bos taurus	AMPH	VGNC	VGNC:25875
Macaca mulatta	AMPH	VGNC	VGNC:69809
Mus musculus	AMPH	MGD	MGI:103574
Canis familiaris	AMPH	VGNC	VGNC:37840
Felis catus	AMPH	VGNC	VGNC:67527
Macaca fascicularis	AMPH	NCBI	NCBI:102127478
Others	AMPH	NCBI