A2ML1 - alpha-2-macroglobulin like 1 Gene

Also Known as OMS; p170; CPAMD9

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 144568

About A2ML1

Cytogenetic location: 12p13.31 Genomic coordinates (GRCh38): 12:8,822,621-8,887,459 (from NCBI)

This gene has 9 transcripts (splice variants), 517 orthologues, 8 paralogues and is associated with 1 phenotype. Restricted expression toward esophagus (RPKM 190.0).

Summary

This gene encodes a member of the alpha-macroglobulin superfamily. The encoded protein is thought to be an N-glycosylated monomeric protein that acts as an inhibitor of several proteases. It has been shown to form covalent interactions with proteases, and has been reported as the p170 antigen recognized by autoantibodies in the autoimmune disease paraneoplastic pemphigus (PNP; PMID:20805888). Mutations in these gene have also been associated with some cases of Noonan syndrome (NS; PMID:24939586) as well as some cases of otitis media (PMID:26121085). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]

A2ML1 Products (2)

mRNA	Protein	Name
NM_001282424.3	NP_001269353.2	alpha-2-macroglobulin-like protein 1 isoform 2
NM_144670.6	NP_653271.3	alpha-2-macroglobulin-like protein 1 isoform 1 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables peptidase inhibitor activity	IDA IDA: Inferred from direct assay	16298998	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in regulation of endopeptidase activity	IDA IDA: Inferred from direct assay	16298998	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in extracellular space	IDA IDA: Inferred from direct assay	16298998	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

A2ML1 Protein Structure

A2M_N

A2M_N_2

A2M

Thiol-ester_cl

A2M_comp

A2M_recep

0
300
600
900
1200
1454 a.a.

Protein Preferred Names	Protein Names
alpha-2-macroglobulin-like protein 1	C3 and PZP-like, alpha-2-macroglobulin domain containing 9

A2ML1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P89573	α2ML1 Antibody (YA8917)	WB, ICC/IF, IF-Tissue, IHC-P, IP, ELISA	human

Related Diseases

Diseases	Alias
Otitis Media	Opsoclonus-Myoclonus Syndrome OMS Otitis Media, Susceptibility To Kinsbourne Syndrome Otitis Media, Chronic/Recurrent Come/Rom Ataxo-Opso-Myoclonus Syndrome Dancing Eye Syndrome Dancing Eye-Dancing Feet Syndrome Oma Syndrome Opsoclonus Myoclonus Syndrome Opsoclonus-Myoclonus-Ataxia Syndrome Poma Syndrome Paraneoplastic Opsoclonus-Myoclonus Paraneoplastic Opsoclonus-Myoclonus-Ataxia Syndrome Opsoclonus Myoclonus OM {Otitis Media, Susceptibility To} Infectious Otitis Media
Paraneoplastic Pemphigus
Pemphigus
Chronic Purulent Otitis Media	Chronic Suppurative Otitis Media Csom - [Chronic Suppurative Otitis Media]
Achilles Bursitis	Achilles Bursitis Or Tendinitis Capped Hock Haglund'S Deformity Haglund'S Disease Osteochondritis Of The Talus
Suppurative Otitis Media	Otitis Media With Effusion - Purulent Purulent Otitis Media Otitis Media, Suppurative
Subcorneal Pustular Dermatosis	Subcorneal Pustular Dermatitis Sneddon-Wilkinson Disease Or Syndrome Pustulosis Subcornealis Sneddon-Wilkinson Disease Skin Diseases, Vesiculobullous Vesiculobullous Skin Disease
Lymphatic Malformation 12	Central Conducting Lymphatic Anomaly LMPHM12 Ccla Lymphatic Malformation-7 Doid:0081030
Pulmonary Valve Stenosis	Valvular Pulmonary Stenosis Heart Valve Pulmonary Stenosis Valvar Pulmonary Stenosis Valvate Pulmonary Stenosis Pulmonary Stenosis Pulmonary Valve Stricture Pulmonic Valve Stenosis Ps - [Pulmonary Valve Stenosis] Pvs - [Pulmonary Valve Stenosis] Pulmonary Valvular Stricture Pulmonary Valvular Stenosis Pulmonary Valvular Obstruction Pulmonary Valve Obstruction Obstructed Pulmonary Valve
Neurofibromatosis-Noonan Syndrome	NFNS Neurofibromatosis Type 1 Neurofibromatosis With Noonan Phenotype Nf1 Von Recklinghausen Disease Neurofibromatosis Type 1-Noonan Syndrome Noonan Neurofibromatosis Syndrome Recklinghausen'S Disease Noonan-Neurofibromatosis Syndrome Fibromatosis Multiple Non Ossifying Disseminated Nonossifying Fibromas In Association With Cafe-Au-Lait Spots Jaffe Campanacci Syndrome Type 1 Neurofibromatosis Neurofibromatosis 1 Peripheral Neurofibromatosis Recklinghausen Disease, Nerve Jaffe-Campanacci Syndrome
Pseudomembranous Conjunctivitis
Pulmonary Valve Disease	Pulmonary Valve Disorder
Pylorospasm
Acute Conjunctivitis
Rasopathy	Ras/Mitogen-Activated Protein Kinase Syndrome
Ohdo Syndrome, Sbbys Variant	Say-Barber-Biesecker-Young-Simpson Syndrome SBBYSS Young-Simpson Syndrome Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type Yss Sbbys Variant Of Ohdo Syndrome Blepharophimosis - Intellectual Disability Syndrome, Sbbys Type Young Simpson Syndrome Sbbyss Syndrome Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant Blepharophimosis And Mental Retardation Syndrome, Say-Barber/Biesecker/Young-Simpson Type Blepharophimosis-Intellectual Deficit Syndrome, Say-Barber/Biesecker/Young-Simpson Type Bmrs Sbbys Ohdo Syndrome, Say-Barber-Biesecker Variant Say-Barber-Biesecker-Young-Simpson Variant Of Ohdo Syndrome Hypothyroidism-Dysmorphism-Postaxial Polydactyly-Intellectual Disability Syndrome Say-Barber-Biesecker Variant Of Ohdo Syndrome
Cardiofaciocutaneous Syndrome 1	Cardiofaciocutaneous Syndrome Cfc Syndrome Cardio-Facio-Cutaneous Syndrome CFC1 Cfcs Cardio-Facial-Cutaneous Syndrome Congenital Heart Defects Characteristic Facial Appearance Ectodermal Abnormalities And Growth Failure Cardiofaciocutaneous Syndrome, Type 1
Noonan Syndrome With Multiple Lentigines	Leopard Syndrome Multiple Lentigines Syndrome Moynahan Syndrome Cardiomyopathic Lentiginosis Progressive Cardiomyopathic Lentiginosis Cardio-Cutaneous Syndrome Lentiginosis Profusa Capute-Rimoin-Konigsmark-Esterly-Richardson Syndrome Generalized Lentiginosis Gorlin Syndrome Ii Lentiginosis Profusa Syndrome Lentigines, Electrocardiographic Conduction Abnormalities, Ocular Hypertelorism, Pulmonic Stenosis, Abnormal Genitalia, Retardation Of Growth, Deafnes Diffuse Lentiginosis Nsml Familial Multiple Lentigines Syndrome Alopecia-Epilepsy-Intellectual Disability Syndrome, Moynahan Type Progressive Cardiomyopathic Lentiginosis Syndrome Alopecia Epilepsy Oligophrenia Syndrome Of Moynahan
Costello Syndrome	Faciocutaneoskeletal Syndrome Fcs Syndrome Congenital Myopathy With Excess Of Muscle Spindles CSTLO CMEMS Fcss Myopathy, Congenital, With Excess Of Muscle Spindles
Bullous Skin Disease	Skin Diseases Bullous Skin Diseases, Bullous
Middle Ear Disease	Middle Ear Anomaly Disorder Of Middle Ear
Noonan Syndrome 1	Noonan Syndrome NS1 Male Turner Syndrome Female Pseudo-Turner Syndrome Turner Phenotype With Normal Karyotype Noonan Syndrome With Pigmented Villonodular Synovitis Turner'S Phenotype, Karyotype Normal Familial Turner Syndrome Noonan'S Syndrome Noonan-Ehmke Syndrome Ns Pseudo-Ullrich-Turner Syndrome Turner Syndrome In Female With X Chromosome Turner-Like Syndrome Ullrich-Noonan Syndrome Noonan-Like/Multiple Giant Cell Lesion Syndrome Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions Pterygium Colli Syndrome Noonan Syndrome, Type 1 Turner Syndrome, Male

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-RS00011	A2ML1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown