A2ML1 - alpha-2-macroglobulin like 1 Gene

中文名称：α-2-巨球蛋白样 1

种属: Homo sapiens

同用名: OMS; p170; CPAMD9

基因 ID: 144568 | 基因类型: protein coding

关于 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).

功能概要

该基因编码α-巨球蛋白超家族的成员。编码的蛋白质被认为是一种 N-糖基化单体蛋白质，可作为多种蛋白酶的抑制剂。它已被证明与蛋白酶形成共价相互作用，并被报道为自身免疫性疾病副肿瘤性天疱疮 (PNP；PMID：20805888) 中自身抗体识别的 p170 抗原。这些基因的突变也与一些努南综合征病例 (NS; PMID:24939586) 以及一些中耳炎病例 (PMID:26121085) 有关。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供，2015 年 8 月]

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 基因产物(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

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables peptidase inhibitor activity	IDA IDA: 通过直接分析推断	16298998	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in regulation of endopeptidase activity	IDA IDA: 通过直接分析推断	16298998	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in extracellular space	IDA IDA: 通过直接分析推断	16298998	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

A2ML1 蛋白结构

A2M_N

A2M_N_2

A2M

Thiol-ester_cl

A2M_comp

A2M_recep

0
300
600
900
1200
1454 a.a.

蛋白主名

其他名称

alpha-2-macroglobulin-like protein 1

C3 and PZP-like, alpha-2-macroglobulin domain containing 9

关联疾病

疾病名称

别名

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

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A2ML1 - alpha-2-macroglobulin like 1 Gene

关于 A2ML1

功能概要

A2ML1 基因产物(2)

A2ML1 蛋白结构

关联疾病

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