HINT1 - histidine triad nucleotide binding protein 1 Gene

Homo sapiens

Also known as HINT; NMAN; PKCI-1; PRKCNH1

Gene ID: 3094 | Gene type: protein coding

About 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.

Summary

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 Products(1)

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables adenosine 5'-monophosphoramidase activity	IDA IDA: Inferred from direct assay	17217311	GOA
enables adenosine 5'-monophosphoramidase activity	IMP IMP: Inferred from mutant phenotype	16835243	GOA
enables deSUMOylase activity	IMP IMP: Inferred from mutant phenotype	31088288	GOA
enables hydrolase activity	IDA IDA: Inferred from direct assay	16835243	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10958787	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in intrinsic apoptotic signaling pathway by p53 class mediator	IMP IMP: Inferred from mutant phenotype	16835243	GOA
involved in protein desumoylation	IMP IMP: Inferred from mutant phenotype	31088288	GOA
involved in purine ribonucleotide catabolic process	IDA IDA: Inferred from direct assay	16835243	GOA
involved in regulation of DNA-templated transcription	IMP IMP: Inferred from mutant phenotype	16835243	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	8812426	GOA
part of histone deacetylase complex	IDA IDA: Inferred from direct assay	16835243	GOA
located in nucleus	IDA IDA: Inferred from direct assay	9770345	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

HINT1 Protein Structure

HIT

0
100
126 a.a.

Protein Preferred Names

Protein Names

adenosine 5'-monophosphoramidase HINT1

adenosine 5'-monophosphoramidase

HINT1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	HINT1	P49773	CPSF7	Homo sapiens	Q8N684-3	Validated Y2H	32296183
Intra	HINT1	P49773	CPSF7	Homo sapiens	Q8N684-3	Y2H Array	32296183
Intra	HINT1	P49773	CPSF7	Homo sapiens	Q8N684-3	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

HINT1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P83238	HINT1 Antibody (YA2983)	WB, ICC/IF, IP	Human

Related Diseases

Diseases

Alias

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

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

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-113337	Ap4A	Inducer	/	Phase 2

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-113337A	Ap4A tetraammonium	Inducer	≥97.0%	Unkown
HY-138885	Tryptamine guanosine carbamate	Inhibitor	99.79%	Unkown
HY-RS06176	HINT1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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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