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HINT1 Gene

protein-coding   GIFtS: 65
GCID: GC05M130522

Histidine Triad Nucleotide Binding Protein 1

(Previous name: histidine triad nucleotide-binding protein)
(Previous symbols: PRKCNH1, HINT)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): antisense

Quality score for the ORGUL clustered with this gene is 3

Aliases
Histidine Triad Nucleotide Binding Protein 11 2     PKCI-12 3
PRKCNH11 2 3 5     NMAN2 5
HINT1 2 3     Histidine Triad Nucleotide-Binding Protein1
Adenosine 5'-Monophosphoramidase2 3     Histidine Triad Nucleotide-Binding Protein 12
Protein Kinase C Inhibitor 12 3     EC 3.-.-.-3
Protein Kinase C-Interacting Protein 12 3     PKCI13

External Ids:    HGNC: 49121   Entrez Gene: 30942   Ensembl: ENSG000001695677   OMIM: 6013145   UniProtKB: P497733   
ORGUL members:         

Export aliases for HINT1 gene to outside databases

Previous GC identifers: GC05M131989 GC05M130942 GC05M130525 GC05M130571 GC05M125685


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for HINT1 Gene:
The protein encoded by this gene can hydrolyze substrates such as 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, which is part of the loop that binds to the substrate. This gene has been found to be a
tumor suppressing gene. Several transcript variants, but only one of them protein-coding, have been found for
this gene. (provided by RefSeq, Dec 2012)

GeneCards Summary for HINT1 Gene:
HINT1 (histidine triad nucleotide binding protein 1) is a protein-coding gene. Diseases associated with HINT1 include neuromyotonia and axonal neuropathy, autosomal recessive, and axonal neuropathy. GO annotations related to this gene include protein kinase C binding and nucleotide binding. An important paralog of this gene is HINT2.

UniProtKB/Swiss-Prot: HINT1_HUMAN, P49773
Function: Hydrolyzes purine nucleotide phosphoramidates with a single phosphate group, including adenosine
5'monophosphoramidate (AMP-NH2), adenosine 5'monophosphomorpholidate (AMP-morpholidate) and guanosine
5'monophosphomorpholidate (GMP-morpholidate). Hydrolyzes lysyl-AMP (AMP-N-epsilon-(N-alpha-acetyl lysine methyl
ester)) generated by lysine tRNA ligase, as well as Met-AMP, His-AMP and Asp-AMP, lysyl-GMP
(GMP-N-epsilon-(N-alpha-acetyl lysine methyl ester)) and AMP-N-alanine methyl ester. Can also convert adenosine
5'-O-phosphorothioate and guanosine 5'-O-phosphorothioate to the corresponding nucleoside 5'-O-phosphates with
concomitant release of hydrogen sulfide. In addition, functions as scaffolding protein that modulates
transcriptional activation by the LEF1/TCF1-CTNNB1 complex and by the complex formed with MITF and CTNNB1.
Modulates p53/TP53 levels and p53/TP53-mediated apoptosis. Modulates proteasomal degradation of target proteins
by the SCF (SKP2-CUL1-F-box protein) E3 ubiquitin-protein ligase complex

Gene Wiki entry for HINT1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000005.10  NC_018916.2  NT_034772.7  
Regulatory elements:
   Regulatory transcription factor binding sites in the HINT1 gene promoter:
         Sox5   ATF-2   E4BP4   Evi-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHINT1 promoter sequence
   Search Chromatin IP Primers for HINT1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HINT1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q31.2   Ensembl cytogenetic band:  5q23.3   HGNC cytogenetic band: 5q31.2

HINT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HINT1 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M130522:  view genomic region     (about GC identifiers)

Start:
130,494,720 bp from pter      End:
130,507,428 bp from pter
Size:
12,709 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: HINT1_HUMAN, P49773 (See protein sequence)
Recommended Name: Histidine triad nucleotide-binding protein 1  
Size: 126 amino acids; 13802 Da
Subunit: Homodimer. Interacts with CDK7. Interacts with RUVBL1 and RUVBL2 and is associated with the
LEF1/TCF1-CTNNB1 complex and with a KAT5 histone acetyltransferase complex. Identified in a complex with MITF and
CTNNB1. Interacts with CDC34 and RBX1, and is part of a SCF (SKP2-CUL1-F-box protein) E3 ubiquitin-protein ligase
complex
Caution: Was originally thought to be a protein kinase C inhibitor and to bind zinc in solution. Both seem to be
incorrect
Selected PDB 3D structures from and Proteopedia for HINT1 (see all 10):
1AV5 (3D)        1KPA (3D)        1KPB (3D)        1KPC (3D)        1KPE (3D)        1KPF (3D)    
Secondary accessions: Q9H5W8

Explore the universe of human proteins at neXtProt for HINT1: NX_P49773

Explore proteomics data for HINT1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys7, Lys21, Lys30, Lys92
  • Modification sites at PhosphoSitePlus

  • See HINT1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005331.1  
    ENSEMBL proteins: 
     ENSP00000304229   ENSP00000427008   ENSP00000424974   ENSP00000421608   ENSP00000425260  
     ENSP00000427499   ENSP00000426860   ENSP00000422444   ENSP00000430909  

    HINT1 Human Recombinant Protein Products:

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    Novus Biologicals HINT1 Proteins
    Novus Biologicals HINT1 Lysates
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    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for HINT1
    Cloud-Clone Corp. Proteins for HINT1

    HINT1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of HINT1
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    Novus Biologicals HINT1 Antibodies
    Abcam antibodies for HINT1
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    ThermoFisher Antibodies for HINT1
    LSBio Antibodies in human, mouse, rat for HINT1

    HINT1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for HINT1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for HINT1
    Cloud-Clone Corp. CLIAs for HINT1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR001310 Histidine_triad_HIT
     IPR019808 Histidine_triad_CS
     IPR011146 HIT-like

    Graphical View of Domain Structure for InterPro Entry P49773

    ProtoNet protein and cluster: P49773

    1 Blocks protein domain: IPB001310 Histidine triad (HIT) protein

    UniProtKB/Swiss-Prot: HINT1_HUMAN, P49773
    Similarity: Belongs to the HINT family
    Similarity: Contains 1 HIT domain


    HINT1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HINT1_HUMAN, P49773
    Function: Hydrolyzes purine nucleotide phosphoramidates with a single phosphate group, including adenosine
    5'monophosphoramidate (AMP-NH2), adenosine 5'monophosphomorpholidate (AMP-morpholidate) and guanosine
    5'monophosphomorpholidate (GMP-morpholidate). Hydrolyzes lysyl-AMP (AMP-N-epsilon-(N-alpha-acetyl lysine methyl
    ester)) generated by lysine tRNA ligase, as well as Met-AMP, His-AMP and Asp-AMP, lysyl-GMP
    (GMP-N-epsilon-(N-alpha-acetyl lysine methyl ester)) and AMP-N-alanine methyl ester. Can also convert adenosine
    5'-O-phosphorothioate and guanosine 5'-O-phosphorothioate to the corresponding nucleoside 5'-O-phosphates with
    concomitant release of hydrogen sulfide. In addition, functions as scaffolding protein that modulates
    transcriptional activation by the LEF1/TCF1-CTNNB1 complex and by the complex formed with MITF and CTNNB1.
    Modulates p53/TP53 levels and p53/TP53-mediated apoptosis. Modulates proteasomal degradation of target proteins
    by the SCF (SKP2-CUL1-F-box protein) E3 ubiquitin-protein ligase complex

         Enzyme Number (IUBMB): EC 3.-.-.-1

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0003824catalytic activity ----
    GO:0005080protein kinase C binding TAS9770345
    GO:0016787hydrolase activity IDA16835243
         
    HINT1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for HINT1:
     Decreased POU5F1-GFP protein e 

         5 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Hint1):
     cellular  growth/size/body  homeostasis/metabolism  normal  tumorigenesis 

    HINT1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for HINT1: Hint1tm1Ibw Hint1tm1.1Tpm

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HINT1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for HINT1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HINT1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HINT1

    miRNA
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    miRTarBase miRNAs that target HINT1:
    hsa-mir-183-5p (MIRT047137), hsa-mir-744-5p (MIRT037482)

    Block miRNA regulation of human, mouse, rat HINT1 using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate HINT1:
    hsa-miR-511 hsa-miR-3924 hsa-miR-216b
    SwitchGear 3'UTR luciferase reporter plasmidHINT1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for HINT1
    Predesigned siRNA for gene silencing in human, mouse, rat HINT1

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for HINT1

    Clone
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    OriGene clones in human, mouse for HINT1 (see all 7)
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: HINT1 (NM_005340)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HINT1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HINT1

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for HINT1 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HINT1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    HINT1_HUMAN, P49773: Cytoplasm. Nucleus. Note=Interaction with CDK7 leads to a more nuclear localization
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytoskeleton4
    plasma membrane4
    cytosol3

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000118histone deacetylase complex IDA16835243
    GO:0005634nucleus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005856cytoskeleton TAS8812426
    GO:0005886plasma membrane IDA--

    HINT1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for HINT1
    Interactions:

        GeneGlobe Interaction Network for HINT1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for HINT1 (P497732, 3 ENSP000003042294) via UniProtKB, MINT, STRING, and/or I2D (see all 77)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TRIM29Q141342, 3, ENSP000003431294MINT-8216434 I2D: score=3 STRING: ENSP00000343129
    HLA-BP304803, ENSP000003991684I2D: score=1 STRING: ENSP00000399168
    RUVBL1Q9Y2653I2D: score=1 
    RUVBL2Q9Y2303I2D: score=1 
    VHLP403373I2D: score=1 
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated IMP16835243
    GO:0007165signal transduction TAS8812426
    GO:0009154purine ribonucleotide catabolic process IDA16835243
    GO:0072332intrinsic apoptotic signaling pathway by p53 class mediator IMP16835243

    HINT1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for HINT1

    1 HMDB Compound for HINT1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosine monophosphate5'-AMP (see all 28)61-19-8--

    5 DrugBank Compounds for HINT1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    5'-O-(N-Ethyl-Sulfamoyl)Adenosine-- --target--17139284 17016423 10592235
    8-Bromo-Adenosine-5'-Monophosphate-- --target--17139284 17016423 10592235
    Adenosine monophosphate5'-Adenosine monophosphate (see all 15)61-19-8targetproduct of17337452 17217311 17158446
    Guanosine-5'-Monophosphate-- 85-32-5target--17139284 17016423 10592235
    Adenosine-5'-Ditungstate-- --target--17139284 17016423

    4 Novoseek inferred chemical compound relationships for HINT1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    adenosine 5'-monophosphoramidate 96.3 3 16547001 (1), 18799291 (1)
    adenylate 43.5 1 17217311 (1)
    purine 35.6 2 10497298 (1)
    zinc 32.4 2 18652891 (1), 18828023 (1)



    HINT1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for HINT1 gene: 
    NM_005340.6  

    Unigene Cluster for HINT1:

    Histidine triad nucleotide binding protein 1
    Hs.483305  [show with all ESTs]
    Unigene Representative Sequence: BF541289
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000304043(uc011cxd.1 uc003kve.3) ENST00000511475 ENST00000508495(uc003kvf.3)
    ENST00000513345 ENST00000506207 ENST00000504202 ENST00000508488 ENST00000506908
    ENST00000513012 ENST00000520028
    miRNA
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    3 qRT-PCR Assays for microRNAs that regulate HINT1:
    hsa-miR-511 hsa-miR-3924 hsa-miR-216b
    SwitchGear 3'UTR luciferase reporter plasmidHINT1 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: HINT1 (NM_005340)
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HINT1
      QuantiTect SYBR Green Assays in human, mouse, rat HINT1
      QuantiFast Probe-based Assays in human, mouse, rat HINT1

    Additional mRNA sequence: 

    AK026557.1 BC001287.1 BC007090.1 BC028300.1 CR457048.1 NR_024610.2 NR_024611.2 NR_073488.1 
    U27143.1 

    22 DOTS entries:

    DT.75191173  DT.100056911  DT.97759817  DT.120841963  DT.120841972  DT.100858163  DT.95277843  DT.91774690 
    DT.101987805  DT.101955223  DT.100825587  DT.91895312  DT.120841978  DT.120841921  DT.100825586  DT.120841917 
    DT.120841966  DT.87017985  DT.91774662  DT.95292622  DT.121071582  DT.40258343 

    Selected AceView cDNA sequences (see all 569):

    AW163028 NM_005340 AA076286 AA054933 AW674781 AA297923 BI712114 AA628648 
    AI718678 AA814717 AI421842 AI421166 BM759122 BM818175 BF432535 N32864 
    CB161242 AW163748 AA922515 N52690 AI719442 AW161467 BM475500 W95438 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for HINT1 (see all 9)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g · 1h · 1i ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b · 5c · 5d
    SP1:                                                  -                 -                                       
    SP2:                                                  -           -     -     -                                 
    SP3:                                                                    -                                       
    SP4:                                                  -           -     -     -     -                           
    SP5:                                                              -     -     -     -                           


    ECgene alternative splicing isoforms for HINT1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    HINT1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCTTATAGTC
    HINT1 Expression
    About this image


    HINT1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 19) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Ovary (Reproductive System)
             Oviduct
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Bone (Muscoskeletal System)
             Bone Marrow
    HINT1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HINT1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.483305

    UniProtKB/Swiss-Prot: HINT1_HUMAN, P49773
    Tissue specificity: Widely expressed

        Custom PCR Arrays for HINT1
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    QuantiFast Probe-based Assays in human, mouse, rat HINT1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HINT1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for HINT1 gene from Selected species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hint11 , 5 histidine triad nucleotide binding protein 11, 5 88.62(n)1
    94.44(a)1
      11 (32.13 cM)5
    152541  NM_008248.21  NP_032274.11 
     548663835 
    chicken
    (Gallus gallus)
    Aves HINT11 histidine triad nucleotide binding protein 1 78.57(n)
    82.54(a)
      395424  NM_204689.1  NP_990020.1 
    lizard
    (Anolis carolinensis)
    Reptilia HINT16
    histidine triad nucleotide binding protein 1
    84(a)
    1 ↔ 1
    2(31298076-31306256)
    African clawed frog
    (Xenopus laevis)
    Amphibia CB197782.22   -- 75.61(n)    CB197782.2 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.129202 Transcribed sequence with moderate similarity to protein more 76.49(n)    CK361845.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG28621 , 3 nucleotidase3
    CG28621
    67(a)3
    60.85(n)1
    67.46(a)1
      23A53
    334711  NM_134867.41  NP_608711.31 
    worm
    (Caenorhabditis elegans)
    Secernentea F21C3.33
    hint-11
    protein kinae C inhibitor 1 like3
    hint-11
    61(a)3
    62.24(n)1
    66.37(a)1
      I(7287754-7288702)3
    1847601  NM_059655.41  NP_492056.11 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons HIT31 HIT3 56.61(n)
    51.59(a)
      824816  NM_115507.3  NP_567038.1 
    rice
    (Oryza sativa)
    Liliopsida Os03g03225001 Os03g0322500 59.26(n)
    53.17(a)
      4332685  NM_001056502.1  NP_001049967.1 


    ENSEMBL Gene Tree for HINT1 (if available)
    TreeFam Gene Tree for HINT1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HINT1 gene
    HINT22  
    2 SIMAP similar genes for HINT1 using alignment to 6 protein entries:     HINT1_HUMAN (see all proteins):
    LOC346521    HINT2

    HINT1 for paralogs           About GeneDecksing


    3 Pseudogenes.org Pseudogenes for HINT1
    PGOHUM00000232919 PGOHUM00000233049 PGOHUM00000233476


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for HINT1 (see all 212)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1497826191,2,,4
    C,FNeuromyotonia and axonal neuropathy, autosomal recessive (NMAN)4 --130776663(+) CTACCC/GGGTCA 5 P R mis12Minor allele frequency- G:0.00NA EU 5869
    VAR_0692144
    Neuromyotonia and axonal neuropathy, autosomal recessive (NMAN)4--see VAR_0692142 C R mis40--------
    VAR_0692134
    Neuromyotonia and axonal neuropathy, autosomal recessive (NMAN)4--see VAR_0692132 H R mis40--------
    VAR_0692164
    Neuromyotonia and axonal neuropathy, autosomal recessive (NMAN)4--see VAR_0692162 G D mis40--------
    VAR_0692154
    Neuromyotonia and axonal neuropathy, autosomal recessive (NMAN)4--see VAR_0692152 G V mis40--------
    VAR_0692174
    Neuromyotonia and axonal neuropathy, autosomal recessive (NMAN)4--see VAR_0692172 H N mis40--------
    rs1394273671,2
    --130494390(+) AACCCA/CGACCC 3 -- ds50010--------
    rs1845500341,2
    --130494399(+) CCTGAC/TAAGTT 3 -- ds50010--------
    rs737866071,2
    C,F--130494419(+) ACTCTA/GTATGA 3 -- ds50012Minor allele frequency- G:0.03WA 120
    rs1435417891,2
    --130494421(+) TCTATA/GTGACG 3 -- ds50010--------

    HapMap Linkage Disequilibrium report for HINT1 (130494720 - 130507428 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for HINT1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv882884CNV Loss21882294
    nsv882883CNV Gain21882294
    dgv1852e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): HINT1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing HINT1
    DNA2.0 Custom Variant and Variant Library Synthesis for HINT1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601314   
    OMIM disorders: 137200  
    UniProtKB/Swiss-Prot: HINT1_HUMAN, P49773
  • Neuromyotonia and axonal neuropathy, autosomal recessive (NMAN) [MIM:137200]: An autosomal recessive
    neurologic disorder characterized by onset in the first or second decade of a peripheral axonal neuropathy
    predominantly affecting motor more than sensory nerves. The axonal neuropathy is reminiscent of
    Charcot-Marie-Tooth disease type 2 and distal hereditary motor neuropathy. Individuals with NMAN also have
    delayed muscle relaxation and action myotonia associated with neuromyotonic discharges on needle EMG resulting
    from hyperexcitability of the peripheral nerves. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • Selected diseases for HINT1 (see all 23):    
    About MalaCards
    neuromyotonia and axonal neuropathy, autosomal recessive    axonal neuropathy    nicotine dependence    respiratory failure
    anorexia nervosa    ataxia telangiectasia    schizophrenia    liver cirrhosis
    myelodysplastic syndromes    down syndrome    ataxia    pneumonia
    neuropathy    tonsillitis    hepatocellular carcinoma    tuberculosis
    retinitis    melanoma    multiple myeloma    malaria


    HINT1 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for HINT1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    schizophrenia 21.2 7 18799291 (4), 15176481 (1)
    tumors 0 2 19112177 (1)

    Genetic Association Database (GAD): HINT1
    Human Genome Epidemiology (HuGE) Navigator: HINT1 (6 documents)

    Export disorders for HINT1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for HINT1 gene, integrated from 10 sources (see all 71):
    (articles sorted by number of sources associating them with HINT1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning, mapping, and in vivo localization of a human member of the PKCI-1 protein family (PRKCNH1). (PubMed id 8812426)1, 2, 3, 9 Brzoska P.M.... Christman M.F. (Genomics 1996)
    2. Is the histidine triad nucleotide-binding protein 1 (HINT1) gene a candidate for schizophrenia? (PubMed id 18799291)1, 4, 9 Chen Q....Chen X. (Schizophr. Res. 2008)
    3. Histidine triad nucleotide-binding protein 1 up-regulates cellular levels of p27KIP1 by targeting ScfSKP2 ubiquitin ligase and Src. (PubMed id 19112177)1, 2, 9 Cen B.... Weinstein I.B. (J. Biol. Chem. 2009)
    4. Three-dimensional structure of human protein kinase C interacting protein 1, a member of the HIT family of proteins. (PubMed id 8643579)1, 2, 9 Lima C.D.... Hendrickson W.A. (Proc. Natl. Acad. Sci. U.S.A. 1996)
    5. Side chain independent recognition of aminoacyl adenylates by the Hint1 transcription suppressor. (PubMed id 22329685)1, 2 Wang J.... Guo M. (J. Phys. Chem. B 2012)
    6. The tumor suppressor HINT1 regulates MITF and beta-catenin transcriptional activity in melanoma cells. (PubMed id 22647378)1, 2 Genovese G....Sgambato A. (Cell Cycle 2012)
    7. A new crystal form of human histidine triad nucleotide-binding protein 1 (hHINT1) in complex with adenosine 5'-monophosphate at 1.38 A resolution. (PubMed id 22869114)1, 2 Dolot R.... Nawrot B. (Acta Crystallogr. F 2012)
    8. Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia. (PubMed id 22961002)1, 2 Zimon M.... Jordanova A. (Nat. Genet. 2012)
    9. Association study of 182 candidate genes in anorexia nervosa. (PubMed id 20468064)1, 4 Pinheiro A.P....Woodside D.B. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010)
    10. Integrated genomic analysis implicates haploinsufficiency of multiple chromosome 5q31.2 genes in de novo myelodysplastic syndromes pathogenesis. (PubMed id 19240791)1, 4 Graubert T.A....Walter M.J. (PLoS ONE 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 3094 HGNC: 4912 AceView: HINT1 Ensembl:ENSG00000169567 euGenes: HUgn3094
    ECgene: HINT1 H-InvDB: HINT1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for HINT1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for HINT1 gene:
    Search GeneIP for patents involving HINT1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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