HINT3 histidine triad nucleotide binding protein 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: HINT3provided by HGNC
Official Full Name: histidine triad nucleotide binding protein 3provided by HGNC
Primary source: HGNC:HGNC:18468
See related: Ensembl:ENSG00000111911 MIM:609998; AllianceGenome:HGNC:18468
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HINT4
Summary: Histidine triad proteins, such as HINT3, are nucleotide hydrolases and transferases that act on the alpha-phosphate of ribonucleotides (Brenner, 2002 [PubMed 12119013]).[supplied by OMIM, Mar 2008]
Expression: Ubiquitous expression in brain (RPKM 18.9), prostate (RPKM 17.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6q22.32

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (125956770..125980244)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (127145464..127168867)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (126277916..126301390)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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?

HINT3 suppresses AKT/mTOR signaling pathway activity during breast cancer tumorigenesis through PTEN transcriptional activation.
Title: HINT3 suppresses AKT/mTOR signaling pathway activity during breast cancer tumorigenesis through PTEN transcriptional activation.
Results show that significant differences in phosphoramidase activity, oligomeric state, and cellular localization suggest that Hint3s should be placed in a distinct branch of the histidine triad superfamily.
Title: Evidence that human histidine triad nucleotide binding protein 3 (Hint3) is a distinct branch of the histidine triad (HIT) superfamily.

Submit: New GeneRIF Correction

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables adenosine 5'-monophosphoramidase activity	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IDA Inferred from Direct Assay more info	PubMed
enables nucleotide binding	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasm	IMP Inferred from Mutant Phenotype more info	PubMed
located_in mitochondrion	HTP more info	PubMed
located_in nucleus	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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Preferred Names: adenosine 5'-monophosphoramidase HINT3

Names: HINT-3; HIT-like protein

NP_612638.3

EC 3.-.-.-

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.

mRNA and Protein(s)

NM_138571.5 → NP_612638.3 adenosine 5'-monophosphoramidase HINT3

See identical proteins and their annotated locations for NP_612638.3

Status: VALIDATED

Source sequence(s)

AL035689, AY035387, BC015732, BX647228, CX755653, DA393891, DA997963

Consensus CDS

CCDS5133.1

UniProtKB/Swiss-Prot

B3KQ91, Q8N0Y9, Q9NQE9

Related

ENSP00000229633.5, ENST00000229633.7

Conserved Domains (1) summary

cd01278
Location:47 → 150

aprataxin_related; aprataxin related: Aprataxin, a HINT family hydrolase is mutated in ataxia oculomotor apraxia syndrome. All the members of this subgroup have the conserved HxHxHxx (where x is a hydrophobic residue) signature motif. Members of this subgroup are ...