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

Gene ID: 3094, updated on 9-Dec-2024

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
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Genomic context

See HINT1 in Genome Data Viewer
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_000005.10Genomic Context describing neighboring genes Neighboring gene SURP and G-patch domain containing 1 pseudogene Neighboring gene uncharacterized LOC105379172 Neighboring gene NANOG hESC enhancer GRCh37_chr5:130400159-130400717 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:130447686-130448186 Neighboring gene Sharpr-MPRA regulatory region 1831 Neighboring gene H3K27ac hESC enhancers GRCh37_chr5:130499678-130500338 and GRCh37_chr5:130500339-130500998 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16302 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23040 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23041 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16303 Neighboring gene LYR motif containing 7 Neighboring gene uncharacterized LOC124901061 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23042 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23043 Neighboring gene CDC42 small effector 2

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ30414, FLJ32340

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 
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 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

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
NP_005331.1
XP_047273089.1
XP_054208456.1

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

  1. NG_032998.1 RefSeqGene

    Range
    5093..11322
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005340.7NP_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:16118
    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

  1. 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
  2. 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
  3. 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
  4. 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
  5. 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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    131159027..131165256 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047417133.1XP_047273089.1  adenosine 5'-monophosphoramidase HINT1 isoform X1

    UniProtKB/TrEMBL
    D6RD60
    Related
    ENSP00000502370.1, ENST00000675491.1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    131678018..131684247 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054352481.1XP_054208456.1  adenosine 5'-monophosphoramidase HINT1 isoform X1

    UniProtKB/TrEMBL
    D6RD60