HINT1 - histidine triad nucleotide binding protein 1 Gene

中文名称：组氨酸三联体核苷酸结合蛋白 1

种属: Homo sapiens

同用名: HINT; NMAN; PKCI-1; PRKCNH1

基因 ID: 3094 | 基因类型: protein coding

关于 HINT1

Cytogenetic location: 5q23.3 Genomic coordinates (GRCh38): 5:131,159,027-131,165,256 (from NCBI)

This gene has 15 transcripts (splice variants), 235 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in colon (RPKM 85.2), liver (RPKM 83.5) and 25 other tissues.

功能概要

该基因编码的蛋白质可水解嘌呤核苷酸氨基磷酸酯底物，包括 AMP-吗啉代酯、AMP-N-丙氨酸甲酯、AMP-α-乙酰赖氨酸甲酯和 AMP-NH2。编码的蛋白质通过组氨酸三联体基序与这些底物相互作用。该基因被认为是肿瘤抑制基因。此外，该基因的突变可引起常染色体隐性神经性肌强直和轴索性神经病。 7 号染色体上有几个相关的假基因。已经观察到几个转录变体。[RefSeq 提供，2015 年 12 月]

This gene encodes a protein that hydrolyzes purine nucleotide phosphoramidates substrates, including AMP-morpholidate, AMP-N-alanine methyl ester, AMP-alpha-acetyl lysine methyl ester, and AMP-NH2. The encoded protein interacts with these substrates via a histidine triad motif. This gene is considered a tumor suppressor gene. In addition, mutations in this gene can cause autosomal recessive neuromyotonia and axonal neuropathy. There are several related pseudogenes on chromosome 7. Several transcript variants have been observed. [provided by RefSeq, Dec 2015]

HINT1 基因产物(1)

mRNA	Protein	Name
NM_005340.7	NP_005331.1	adenosine 5'-monophosphoramidase HINT1

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 adenosine 5'-monophosphoramidase activity	IDA IDA: 通过直接分析推断	17217311	GOA
enables adenosine 5'-monophosphoramidase activity	IMP IMP: 通过突变表型推断	16835243	GOA
enables deSUMOylase activity	IMP IMP: 通过突变表型推断	31088288	GOA
enables hydrolase activity	IDA IDA: 通过直接分析推断	16835243	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	10958787	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in intrinsic apoptotic signaling pathway by p53 class mediator	IMP IMP: 通过突变表型推断	16835243	GOA
involved in protein desumoylation	IMP IMP: 通过突变表型推断	31088288	GOA
involved in purine ribonucleotide catabolic process	IDA IDA: 通过直接分析推断	16835243	GOA
involved in regulation of DNA-templated transcription	IMP IMP: 通过突变表型推断	16835243	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	8812426	GOA
part of histone deacetylase complex	IDA IDA: 通过直接分析推断	16835243	GOA
located in nucleus	IDA IDA: 通过直接分析推断	9770345	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

HINT1 蛋白结构

HIT

0
100
126 a.a.

蛋白主名

其他名称

adenosine 5'-monophosphoramidase HINT1

adenosine 5'-monophosphoramidase

HINT1 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	HINT1	P49773	CPSF7	Homo sapiens	Q8N684-3	Validated Y2H	32296183
种属内	HINT1	P49773	CPSF7	Homo sapiens	Q8N684-3	Y2H Array	32296183
种属内	HINT1	P49773	CPSF7	Homo sapiens	Q8N684-3	Y2H Prey Pooling	32296183

种属间: 跨种属相互作用 种属内: 同种属相互作用

HINT1 抗体

目录号	产品名	应用	反应物种
HY-P83238	HINT1 Antibody (YA2983)	WB, ICC/IF, IP	Human
HY-P83238A	HINT1 Antibody (YA2983)(PBS only)	WB, ICC/IF, IP	Human

关联疾病

疾病名称

别名

Neuromyotonia And Axonal Neuropathy, Autosomal Recessive

Gamstorp-Wohlfart Syndrome	Autosomal Recessive Axonal Neuropathy With Neuromyotonia
NMAN	Myokymia, Myotonia, And Muscle Wasting
Aran-Nm	Autosomal Recessive Charcot-Marie-Tooth Disease Type 2 With Neuromyotonia
Autosomal Recessive Neuromyotonia And Axonal Neuropathy	Arcmt2-Nm
Myokymia, Myotonia And Muscle Wasting	Myokymia Myotonia And Muscle Wasting
Isaacs Syndrome

Peripheral Nervous System Disease

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

Axonal Neuropathy

Neuropathy

Peripheral Neuropathy

Peripheral Neuropathies

Myotonia

Charcot-Marie-Tooth Disease

Cmt	Hmsn
Hereditary Motor And Sensory Neuropathy	Pma
Cmt - Charcot-Marie-Tooth Disease	Charcot Marie Tooth Disease
Charcot-Marie-Tooth Hereditary Neuropathy	Charcot-Marie-Tooth Syndrome
Peroneal Muscular Atrophy	Hereditary Motor And Sensory Neuropathies

Corneal Dystrophy, Posterior Polymorphous, 2

Posterior Polymorphous Corneal Dystrophy 2	PPCD2
Corneal Dystrophy, Posterior Polymorphous 2	Corneal Dystrophy Polymorphous Posterior, 2
Dystrophy, Corneal, Posterior Polymorphous, Type 2

Tooth Disease

Tooth Diseases	Teeth Disease
Tooth Disorders

Microphthalmia

Microphthalmos	Isolated Anophthalmia-Microphthalmia Syndrome
Isolated Microphthalmia-Anophthalmia-Coloboma	Simple Microphthalmos
Clinical Anophthalmia	Isolated Anophthalmia - Microphthalmia
Isolated Pure Microphthalmia	Mac Spectrum
Microphthalmia-Anophthalmia-Coloboma Spectrum	Primitive Anophthalmia
Globe Of Eye Small	Small Eyeball
Hypoplasia Of Eye	Isolated Nanophthalmos
Rudimentary Eye	Dysplasia Of Eye

Charcot-Marie-Tooth Disease, Axonal, Type 2e

Charcot-Marie-Tooth Disease Type 2	CMT2E
CMT2S	CMT2Y
Charcot-Marie-Tooth Disease Type 2e	Charcot-Marie-Tooth Disease Type 2y
Charcot-Marie-Tooth Disease Axonal Type 2s	Charcot-Marie-Tooth Disease, Axonal, Type 2s
Charcot-Marie-Tooth Disease, Type 2e	Hereditary Motor And Sensory Neuropathy Type 2
Charcot-Marie-Tooth Neuropathy, Type 2s	Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s
Charcot-Marie-Tooth Disease, Axonal, Type 2y	Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y
Charcot-Marie-Tooth Neuropathy, Type 2y	Charcot-Marie-Tooth Disease, Type 2y
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e	Charcot-Marie-Tooth Neuropathy Type 2e
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation	Cmt2 Due To Vcp Mutation
Charcot-Marie-Tooth Disease Type 2s	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease	Cmt2
Charcot-Marie-Tooth Neuropathy, Type 2e	Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type
Hereditary Motor And Sensory Neuropathy Okinawa Type	Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y
Charcot-Marie-Tooth Neuropathy Type 2y	Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s
Charcot-Marie-Tooth Neuropathy Type 2s	Charcot-Marie-Tooth Type 2
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y	Charcot-Marie-Tooth Disease 2e
Charcot-Marie-Tooth Disease Axonal Type 2e	Charcot-Marie-Tooth Disease Neuronal Type 2e
Charcot-Marie-Tooth Disease 2s	Charcot-Marie-Tooth Neuropathy Axonal Type 2s
Charcot-Marie-Tooth Disease 2y	Charcot-Marie-Tooth Disease, Type 2
Hereditary Motor And Sensory-Neuropathy Type Ii

Schizophrenia

SCZD	Schizophrenia With Or Without An Affective Disorder
Schizophrenia 12	Schizophrenia, Susceptibility To
Schizophrenia-1	Dementia Praecox
Schizophrenia 1

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

目录号	产品名	作用方式	纯度	Phase
HY-113337	Ap4A	Inducer	/	Phase 2

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-113337A	Ap4A tetraammonium	Inducer	99.98%	否
HY-138885	Tryptamine guanosine carbamate	Inhibitor	99.79%	否
HY-173016	HINT1-IN-1	Modulator	/	否
HY-RS06176	HINT1 Human Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS21594	Hint1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	HINT1	RGD	RGD:1593411
Canis familiaris	HINT1	VGNC	VGNC:59039
Macaca mulatta	HINT1	VGNC	VGNC:84386
Bos taurus	HINT1	VGNC	VGNC:29854
Mus musculus	HINT1	MGD	MGI:1321133
Others	HINT1	NCBI

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

粤ICP备2021105330号-3

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

HINT1 - histidine triad nucleotide binding protein 1 Gene

关于 HINT1

功能概要

HINT1 基因产物(1)

HINT1 蛋白结构

HINT1 蛋白互作信息

HINT1 抗体

关联疾病

直系同源

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HINT1 - histidine triad nucleotide binding protein 1 Gene

关于 HINT1

功能概要

HINT1 基因产物(1)

HINT1 蛋白结构

HINT1 蛋白互作信息

HINT1 抗体

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z