AMPH - amphiphysin Gene

Also Known as AMPH1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 273

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)

AMPH Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	AMPH	P49418	ARL16	Homo sapiens	Q0P5N6	Validated Y2H	25416956
Intra	AMPH	P49418	ARL16	Homo sapiens	Q0P5N6	Validated Y2H	32296183
Intra	AMPH	P49418	ARL16	Homo sapiens	Q0P5N6	Y2H Array	25416956
Intra	AMPH	P49418	ATN1	Homo sapiens	Q86V38	Y2H Array	32814053
Intra	AMPH	P49418	ATN1	Homo sapiens	Q86V38	Validated Y2H	32814053
Intra	AMPH	P49418	ATN1	Homo sapiens	Q86V38	Y2H Pooling	32814053
Intra	AMPH	P49418	PPP3CA	Homo sapiens	Q08209-2	Validated Y2H	32296183
Intra	AMPH	P49418	PPP3CC	Homo sapiens	P48454	Y2H Prey Pooling	25416956
Intra	AMPH	P49418	EGFR	Homo sapiens	P00533	Anti Tag CoIP	27956147
Intra	AMPH	P49418	TERF1	Homo sapiens	P54274	Pull Down	21044950
Intra	AMPH	P49418	BIN1	Homo sapiens	O00499	Anti Tag CoIP	33961781
Intra	AMPH	P49418	DEUP1	Homo sapiens	Q05D60	Validated Y2H	25416956
Intra	AMPH	P49418	DEUP1	Homo sapiens	Q05D60	Y2H Array	25416956
Cross	AMPH	P49418	Necap1	Mus musculus	Q9CR95	Pull Down	17762867
Cross	AMPH	P49418	Necap1	Mus musculus	Q9CR95	NMR	17762867
Cross	AMPH	P49418	Tfap2a	Rattus norvegicus	P58197	Pull Down	17762867
Cross	AMPH	P49418	Necap1	Rattus norvegicus	P69682	Pull Down	17762867
Cross	AMPH	P49418	Clta	Rattus norvegicus	P08081	Pull Down	17762867

Cross: Cross-species interaction Intra: Intraspecies interaction

AMPH Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P811049	Amphiphysin 1 Antibody	WB, ICC/IF	Human, Mouse, Rat

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

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 (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-14327	FAUC 213	Antagonist	99.54%	Unkown
HY-RS00669	AMPH Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18227	Amph Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24705	Amph Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	AMPH	NCBI