HINT1 histidine triad nucleotide binding protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: HINT1provided by HGNC
Official Full Name: histidine triad nucleotide binding protein 1provided by HGNC
Primary source: HGNC:HGNC:4912
See related: Ensembl:ENSG00000169567 MIM:601314; AllianceGenome:HGNC:4912
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HINT; NMAN; PKCI-1; PRKCNH1
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]
Expression: Ubiquitous expression in colon (RPKM 85.2), liver (RPKM 83.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q23.3

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (131159027..131165256, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (131678018..131684247, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (130494720..130500949, complement)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HINT1 Gene Polymorphisms, Smoking Behaviour, and Personality Traits: A Haplotype Case-Control Study.
Title: HINT1 Gene Polymorphisms, Smoking Behaviour, and Personality Traits: A Haplotype Case-Control Study.
The HINT1 Gene rs2526303 Polymorphism and Its Association with Personality Traits in Cigarette Smokers.
Title: The HINT1 Gene rs2526303 Polymorphism and Its Association with Personality Traits in Cigarette Smokers.
Association of the rs3864283 Polymorphism Located in the HINT1 Gene with Cigarette Use and Personality Traits.
Title: Association of the rs3864283 Polymorphism Located in the HINT1 Gene with Cigarette Use and Personality Traits.
HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling.
Title: HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling.
HINT1-related neuropathy in Greek patients with Charcot-Marie-Tooth disease.
Title: HINT1-related neuropathy in Greek patients with Charcot-Marie-Tooth disease.
HINT1 founder mutation causing axonal neuropathy with neuromyotonia in South America: A case report.
Title: HINT1 founder mutation causing axonal neuropathy with neuromyotonia in South America: A case report.
Integrated analysis of ceRNA network reveals potential prognostic Hint1-related lncRNAs involved in hepatocellular carcinoma progression.
Title: Integrated analysis of ceRNA network reveals potential prognostic Hint1-related lncRNAs involved in hepatocellular carcinoma progression.
Intracellular HINT1-Assisted Hydrolysis of Nucleoside 5'-O-Selenophosphate Leads to the Release of Hydrogen Selenide That Exhibits Toxic Effects in Human Cervical Cancer Cells.
Title: Intracellular HINT1-Assisted Hydrolysis of Nucleoside 5'-O-Selenophosphate Leads to the Release of Hydrogen Selenide That Exhibits Toxic Effects in Human Cervical Cancer Cells.
HINT1 (Histidine Triad Nucleotide-Binding Protein 1) Attenuates Cardiac Hypertrophy Via Suppressing HOXA5 (Homeobox A5) Expression.
Title: HINT1 (Histidine Triad Nucleotide-Binding Protein 1) Attenuates Cardiac Hypertrophy Via Suppressing HOXA5 (Homeobox A5) Expression.
Human HINT1 Mutant Proteins that Cause Axonal Motor Neuropathy Exhibit Anomalous Interactions with Partner Proteins.
Title: Human HINT1 Mutant Proteins that Cause Axonal Motor Neuropathy Exhibit Anomalous Interactions with Partner Proteins.

Submit: New GeneRIF Correction See all GeneRIFs (56)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Autosomal recessive axonal neuropathy with neuromyotonia MedGen: C5700127 OMIM: 137200 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	Genes, including GABRP, ADF, HINT, PRSS2, SDCBP, PTK9, PPP2R5B, ITGA3, PRKCBP1, HMOX2, HAT1, PPP1cB, and ICAM-1, are upregulated after treatment of human astrocytes with HIV-1 gp120	PubMed
Tat	tat	Expression of HIV-1 Tat upregulates the abundance of histidine triad nucleotide binding protein 1 (HINT1) in the nucleoli of Jurkat T-cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G16904 (e-PCR)
- UniSTS:27926

RH70661 (e-PCR)
- UniSTS:86447

RH91489 (e-PCR)
- UniSTS:83655

SHGC-14493 (e-PCR)
- UniSTS:25563

SHGC-8671 (e-PCR)
- UniSTS:88311

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables adenosine 5'-monophosphoramidase activity	IDA Inferred from Direct Assay more info	PubMed
enables adenosine 5'-monophosphoramidase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables deSUMOylase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables hydrolase activity	IBA Inferred from Biological aspect of Ancestor more info
enables hydrolase activity	IDA Inferred from Direct Assay more info	PubMed
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase C binding	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in intrinsic apoptotic signaling pathway by p53 class mediator	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of calcium-mediated signaling	IEA Inferred from Electronic Annotation more info
involved_in protein desumoylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in proteolysis	IEA Inferred from Electronic Annotation more info
involved_in purine ribonucleotide catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in purine ribonucleotide catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoskeleton	TAS Traceable Author Statement more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in extracellular exosome	HDA more info	PubMed
part_of histone deacetylase complex	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: adenosine 5'-monophosphoramidase HINT1

Names: adenosine 5'-monophosphoramidase; desumoylating isopeptidase HINT1; epididymis secretory sperm binding protein; protein kinase C inhibitor 1; protein kinase C-interacting protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_032998.1 RefSeqGene

Range

5093..11322

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_005340.7 → NP_005331.1 adenosine 5'-monophosphoramidase HINT1

See identical proteins and their annotated locations for NP_005331.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the functional protein.

Source sequence(s)

AA076103, AC004650, BC007090

Consensus CDS

CCDS4147.1

UniProtKB/Swiss-Prot

P49773, Q9H5W8

UniProtKB/TrEMBL

A0A384NPU2

Related

ENSP00000304229.5, ENST00000304043.10

Conserved Domains (1) summary

cd01276
Location:16 → 118

PKCI_related; Protein Kinase C Interacting protein related (PKCI): PKCI and related proteins belong to the ubiquitous HIT family of hydrolases that act on alpha-phosphates of ribonucleotides. The members of this subgroup have a conserved HxHxHxx motif (x is a ...

RNA

NR_024610.3 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2) includes an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AA076103, AC004650, BC028300
NR_024611.3 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate splice site in the 5' exon, compared to variant 1. This variant is represented as non-coding because there is uncertainty about the protein-coding capacity of the transcript.

Source sequence(s)

AA076103, AC004650, CK002748, CN290239
NR_073488.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (4) uses an alternate splice site in the 5' exon and includes two alternate internal exons compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AA076103, AC004650, BF967059, CD639104, CN290239
NR_134494.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (5) includes two alternate internal exons compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC004650, BC028300, BG393782, CN290233
NR_134495.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (6) uses an alternate splice site in an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC004650, BF970603, BG708765, CN290233