1. Gene
  2. HNMT - histamine N-methyltransferase Gene

HNMT - histamine N-methyltransferase Gene

中文名称:组胺 N-甲基转移酶

种属: Homo sapiens

同用名: HMT; MRT51; HNMT-S1; HNMT-S2

基因 ID: 3176 | 基因类型: protein coding

关于 HNMT

Cytogenetic location: 2q22.1 Genomic coordinates (GRCh38): 2:137,964,473-138,016,364 (from NCBI)

This gene has 8 transcripts (splice variants), 263 orthologues and is associated with 3 phenotypes. Ubiquitous expression in liver (RPKM 20.0), fat (RPKM 16.4) and 24 other tissues.

功能概要

在哺乳动物中,组胺通过两个主要途径代谢:通过组胺 N-甲基转移酶进行的 N (tau) -甲基化和通过二胺氧化酶进行的氧化脱氨。该基因编码第一种在胞质溶胶中发现的酶,并使用 S-腺苷-L-甲硫氨酸作为甲基供体。在哺乳动物大脑中,组胺的神经递质活性受 N (tau) -甲基化控制,因为在中枢神经系统中未发现二胺氧化酶。一种常见的遗传多态性会影响该基因产物在红细胞中的活性水平。已发现该基因编码不同蛋白质的多个选择性剪接转录物变体。[RefSeq 提供,2008 年 7 月]

In mammals, histamine is metabolized by two major pathways: N(tau)-methylation via histamine N-methyltransferase and oxidative deamination via diamine oxidase. This gene encodes the first Enzyme which is found in the cytosol and uses S-adenosyl-L-methionine as the methyl donor. In the mammalian brain, the neurotransmitter activity of histamine is controlled by N(tau)-methylation as diamine oxidase is not found in the central nervous system. A common genetic polymorphism affects the activity levels of this gene product in red blood cells. Multiple alternatively spliced transcript variants that encode different proteins have been found for this gene. [provided by RefSeq, Jul 2008]

HNMT 基因产物(3)

mRNA Protein Name
NM_001024074.3 NP_001019245.1 histamine N-methyltransferase isoform 2
NM_001024075.3 NP_001019246.1 histamine N-methyltransferase isoform 3
NM_006895.3 NP_008826.1 histamine N-methyltransferase isoform 1
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 histamine N-methyltransferase activity IDA
IDA: 通过直接分析推断
26206890 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in histamine catabolic process IDA
IDA: 通过直接分析推断
26206890 GOA
involved in histamine metabolic process IMP
IMP: 通过突变表型推断
23505051 GOA
involved in methylation IDA
IDA: 通过直接分析推断
26206890 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
26206890 GOA
is active in cytosol IDA
IDA: 通过直接分析推断
23505051 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

HNMT 蛋白结构

Methyltransf_23

Methyltransf_23: Methyltransferase domain (38 - 215)

  • 0
  • 100
  • 200
  • 292 a.a.
蛋白主名 其他名称

histamine N-methyltransferase

重组 HNMT 蛋白

目录号 产品名 蛋白编号 纯度
HY-P75811 HNMT Protein, Human (His) AAH20677.1 (M1-A292) ≥95%

关联疾病

疾病名称 别名
Intellectual Developmental Disorder, Autosomal Recessive 51

MRT51

Mental Retardation, Autosomal Recessive 51

Autosomal Recessive Intellectual Developmental Disorder 51

Asthma

Chronic Obstructive Asthma

Asthma, Diminished Response To Antileukotriene Treatment In

Bronchial Hyperreactivity

Asthma, Susceptibility To

Asthma, Bronchial

Asthma, Protection Against

Asthma, Nocturnal, Susceptibility To

Nocturnal Asthma

Asthma-Related Traits

Asthma-Related Traits, Susceptibility To

Asthma, Nocturnal

Chronic Obstructive Asthma With Acute Exacerbation

Chronic Obstructive Asthma With Status Asthmaticus

Exercise Induced Asthma

Exercise-Induced Asthma

Bronchial Asthma

Asthma, Exercise-Induced

Idiosyncratic Asthma

Unspecified Asthma With Acute Exacerbation

Asthma, Unspecified, With Stated Status Asthmaticus

Status Asthmaticus Nos

Acute Severe Asthma

Acute Severe Bronchial Asthma

Status Asthma

Status Post Asthmaticus

Autosomal Recessive Non-Syndromic Intellectual Disability

Ar-Nsid

Ns-Arid

Akinetopsia
Urticaria

Nettle Rash

Hives

Wheal

Urticaria Nos

Strabismic Amblyopia

Suppression Amblyopia

Amblyopia

Amblyopia, Suppression

Angioedema

Angioneurotic Oedema

Quincke'S Edema

Angioneurotic Edema

Giant Urticaria

Alzheimer Disease 19

AD19

Alzheimer'S Disease 19

Alzheimer Disease 19, Late-Onset

Alzheimer Disease 19 Late Onset

Late-Onset Alzheimer Disease

Alzheimer Disease, Late Onset, Susceptibility To, Type 19

Alzheimer Disease, Late Onset

Autotopagnosia

Body-Image Agnosia

Allergic Rhinitis

Hay Fever

Allergic Rhinitis, Susceptibility To

ALRH

Atopic Rhinitis

Seasonal Allergic Rhinitis

Non-Seasonal Allergic Rhinitis

Perenial Allergic Rhinitis

Pollenosis

Rhinitis Allergic Seasonal

Rhinitis, Allergic, Perennial

Allergic Rhinitis, Cause Unspecified

Pollinosis

Pollen Allergy

Allergy Nos Due To Pollen

Summer Catarrh

Other Seasonal Allergic Rhinitis

Form Agnosia
Eosinophilia-Myalgia Syndrome

Eosinophilia Myalgia Syndrome

Ems

L-Tryptophan Induced Ems

Severe Muscle Pain And Abnormally High Eosinophils

Syndrome With Inflammatory And Autoimmune Components That Affect The Skin, Fascia, Muscle, Nerve, Blood Vessels, Lung, And Heart

Food Allergy

Food Hypersensitivity

Food Allergies

Allergy Food

Food Allergen-Induced Hypersensitivity

Essential Tremor

Benign Essential Tremor

Familial Tremor

Hereditary Essential Tremor

Essential Hereditary Tremor

Shaky Hand Syndrome

Benign Essential Tremor Syndrome

Tremor Hereditary Essential

Essential Tremor, Susceptibility To

Tremor, Hereditary Essential

Visual Agnosia

Primary Visual Agnosia

Anisometropia
Restless Legs Syndrome

Wed

Willis-Ekbom Disease

Restless Leg Syndrome

Ekbom Syndrome

Wittmaack-Ekbom Syndrome

Willis Ekbom Disease

Ekbom'S Syndrome

Rls

Restless Legs

Restless Legs Syndrome, Susceptibility To

Epithelial-Stromal Tgfbi Dystrophy
Prosopagnosia
Visual Cortex Disease

Visual Cortex Dysfunction

Visual Cortex Disorder

Visual Cortical Disorder

Disease Of Visual Cortex

Lattice Corneal Dystrophy

Familial Amyloid Neuropathy, Finnish Type

Familial Amyloid Polyneuropathy, Type V

Visual Pathway Disease

Disorder Of Visual Pathways

Down Syndrome

Trisomy 21

Complete Trisomy 21 Syndrome

Down'S Syndrome

Trisomy 21 Syndrome

Down'S Syndrome - Trisomy 21

Downs Syndrome

G Trisomy

47,Xx,+21

47,Xy,+21

Trisomy G

Down Syndrome, Susceptibility To

Chromosome 21 Trisomy

Trisomy 21 Nos

Abnormal Autosomes 21

Amblyopia

Lazy Eye

Meier-Gorlin Syndrome 2

MGORS2

Meier-Gorlin Syndrome, Type 2

Epilepsy, Idiopathic Generalized 9

Epilepsy, Idiopathic Generalized, Susceptibility To, 9

EIG9

Epilepsy, Juvenile Myoclonic 6

Idiopathic Generalized Epilepsy 9

Epilepsy, Juvenile Myoclonic, Susceptibility To, 6

Susceptibility To Idiopathic Generalized Epilepsy 9

Juvenile Myoclonic Epilepsy 6

EJM6

Susceptibility To Juvenile Myoclonic Epilepsy 6

Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 9

Cortical Blindness

Blindness, Cortical

Sotos Syndrome

Cerebral Gigantism

SOTOS

Chromosome 5q35 Deletion Syndrome

Sotos Syndrome 1, Formerly

Sotos1, Formerly

Distinctive Facial Appearance, Overgrowth In Childhood, And Learning Disabilities Or Delayed Development

Sotos Sequence

Sotos' Syndrome

Sotos1

Sotos Syndrome 1

Primary Hyperoxaluria

Hyperoxaluria

Hyperoxaluria, Primary

Oxalosis

Primary Oxalosis

Congenital Oxaluria

D-Glycerate Dehydrogenase Deficiency

Glyceric Aciduria

Glycolic Aciduria

Hepatic Agt Deficiency

Oxaluria, Primary

Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency

Primary Oxaluria

Hyperoxaluria Primary

Primary Hyperoxaluria Type 2

Primary Hyperoxaluria, Type I

Wolf-Hirschhorn Syndrome

Pitt-Rogers-Danks Syndrome

WHS

Chromosome 4p16.3 Deletion Syndrome

Wittwer Syndrome

4p- Syndrome

Pitt Syndrome

4p Deletion Syndrome

Distal Deletion 4p

Distal Monosomy 4p

Telomeric Deletion 4p

Prds

4p Syndrome

Chromosome 4p Syndrome

Microcephaly, Iugr, Hypertelorism, Ptosis, Iris Coloboma, Hooked Nose, External Ear Dysplasia, Psychomotor Retardation

Wolf Syndrome

Chromosome 4p Deletion Syndrome

Chromosome 4p Monosomy

Del Syndrome

Monosomy 4p

Partial Monosomy 4p

Chromosome 4 Short Arm Deletion

Dystonia

Dystonic Disease

Dystonic Disorder

Dystonia Disorders

Neuroleptic Dyskinesia

Weaver Syndrome

Wss

Weaver-Smith Syndrome

WVS

Weaver-Like Syndrome

Weaver-Williams Syndrome

Camptodactyly-Overgrowth-Unusual Facies Syndrome

Camptodactyly - Overgrowth - Unusual Facies

Ezh2 Related Overgrowth

Overgrowth Syndrome With Accelerated Skeletal Maturation, Unusual Facies, And Camptodactyly

Weaver Smith Syndrome

Weaver Like Syndrome

Weaver Williams Syndrome

Camptodactyly-Overgrowth-Unusual Facies

Weaver Syndrome 1

Weaver Syndrome 2

Wvs1

Wvs2

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus HNMT RGD RGD:71049
Felis catus HNMT VGNC VGNC:80230
Bos taurus HNMT VGNC VGNC:29893
Canis familiaris HNMT VGNC VGNC:54805
Mus musculus HNMT MGD MGI:2153181
Others HNMT NCBI