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Entry version 193 (18 Sep 2019)
Sequence version 2 (23 Jan 2007)
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Protein

Histidine triad nucleotide-binding protein 1

Gene

HINT1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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.7 Publications

Caution

Was originally thought to be a protein kinase C inhibitor and to bind zinc in solution. Both seem to be incorrect.Curated

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei99Purine nucleotide phosphoramidate1
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei112Tele-AMP-histidine intermediate1 Publication1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi43 – 44Purine nucleotide phosphoramidate2
Nucleotide bindingi105 – 107Purine nucleotide phosphoramidate3
Nucleotide bindingi112 – 114Purine nucleotide phosphoramidate3

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • hydrolase activity Source: UniProtKB
  • nucleotide binding Source: UniProtKB-KW
  • protein kinase C binding Source: ProtInc

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionHydrolase
Biological processApoptosis, Transcription, Transcription regulation
LigandNucleotide-binding

Enzyme and pathway databases

SABIO-RK: Biochemical Reaction Kinetics Database

More...
SABIO-RKi
P49773

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Histidine triad nucleotide-binding protein 1 (EC:3.-.-.-)
Alternative name(s):
Adenosine 5'-monophosphoramidase
Protein kinase C inhibitor 1
Protein kinase C-interacting protein 1
Short name:
PKCI-1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:HINT1
Synonyms:HINT, PKCI1, PRKCNH1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 5

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:4912 HINT1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
601314 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P49773

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Neuromyotonia and axonal neuropathy, autosomal recessive (NMAN)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_06921237R → P in NMAN; negligible protein expression due to post-translational degradation. 1 PublicationCorresponds to variant dbSNP:rs149782619EnsemblClinVar.1
Natural variantiVAR_06921351H → R in NMAN; no mutant protein is detected due to post-translational degradation. 1 PublicationCorresponds to variant dbSNP:rs397514491EnsemblClinVar.1
Natural variantiVAR_06921484C → R in NMAN; negligible protein expression due to post-translational degradation. 1 PublicationCorresponds to variant dbSNP:rs397514489EnsemblClinVar.1
Natural variantiVAR_06921589G → V in NMAN. 1 PublicationCorresponds to variant dbSNP:rs397514490EnsemblClinVar.1
Natural variantiVAR_06921693G → D in NMAN. 1 PublicationCorresponds to variant dbSNP:rs397514493EnsemblClinVar.1
Natural variantiVAR_069217112H → N in NMAN; the enzyme has no residual activity although the mutant protein is expressed at normal levels. 2 PublicationsCorresponds to variant dbSNP:rs373849532EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi97V → D or E: Loss of dimerization. Strongly reduced enzyme activity. 1 Publication1
Mutagenesisi105G → A: Reduces enzyme activity. 1 Publication1
Mutagenesisi107S → A: Reduces enzyme activity. 1 Publication1
Mutagenesisi114H → A: Nearly abolishes enzyme activity. 1 Publication1
Mutagenesisi123W → A: Nearly abolishes enzyme activity. 1 Publication1

Keywords - Diseasei

Disease mutation, Neuropathy

Organism-specific databases

DisGeNET

More...
DisGeNETi
3094

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
HINT1

MalaCards human disease database

More...
MalaCardsi
HINT1
MIMi137200 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000169567

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
324442 Autosomal recessive axonal neuropathy with neuromyotonia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA29286

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL5878

Drug and drug target database

More...
DrugBanki
DB02162 5'-O-(N-Ethyl-Sulfamoyl)Adenosine
DB03349 8-Bromo-Adenosine-5'-Monophosphate
DB00131 Adenosine phosphate
DB02183 Adenosine-5'-Ditungstate
DB01972 Guanosine-5'-Monophosphate
DB08934 Sofosbuvir

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
HINT1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
1708543

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources1 Publication
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001097812 – 126Histidine triad nucleotide-binding protein 1Add BLAST125

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylalanineCombined sources1
Modified residuei21N6-acetyllysineCombined sources1
Modified residuei30N6-acetyllysineCombined sources1
Modified residuei45PhosphoserineBy similarity1
Modified residuei72PhosphoserineBy similarity1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
P49773

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P49773

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
P49773

MaxQB - The MaxQuant DataBase

More...
MaxQBi
P49773

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
P49773

PeptideAtlas

More...
PeptideAtlasi
P49773

PRoteomics IDEntifications database

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PRIDEi
P49773

ProteomicsDB human proteome resource

More...
ProteomicsDBi
56116

Consortium for Top Down Proteomics

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TopDownProteomicsi
P49773

2D gel databases

USC-OGP 2-DE database

More...
OGPi
P49773

University College Dublin 2-DE Proteome Database

More...
UCD-2DPAGEi
P49773

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P49773

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
P49773

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
P49773

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Widely expressed.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000169567 Expressed in 237 organ(s), highest expression level in oocyte

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
P49773 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P49773 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA044577

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

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.

9 Publications

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
109341, 88 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
P49773

Protein interaction database and analysis system

More...
IntActi
P49773, 21 interactors

Molecular INTeraction database

More...
MINTi
P49773

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000304229

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
P49773

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1126
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P49773

Database of comparative protein structure models

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ModBasei
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
P49773

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini18 – 126HITPROSITE-ProRule annotationAdd BLAST109

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi110 – 114Histidine triad motif5

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the HINT family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3275 Eukaryota
COG0537 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000154451

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000061064

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P49773

KEGG Orthology (KO)

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KOi
K02503

Identification of Orthologs from Complete Genome Data

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OMAi
DQSIFHT

Database of Orthologous Groups

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OrthoDBi
1190598at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
P49773

TreeFam database of animal gene trees

More...
TreeFami
TF314862

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.30.428.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR019808 Histidine_triad_CS
IPR001310 Histidine_triad_HIT
IPR011146 HIT-like
IPR036265 HIT-like_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01230 HIT, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00332 HISTRIAD

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF54197 SSF54197, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00892 HIT_1, 1 hit
PS51084 HIT_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 5 potential isoforms that are computationally mapped.Show allAlign All

P49773-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MADEIAKAQV ARPGGDTIFG KIIRKEIPAK IIFEDDRCLA FHDISPQAPT
60 70 80 90 100
HFLVIPKKHI SQISVAEDDD ESLLGHLMIV GKKCAADLGL NKGYRMVVNE
110 120
GSDGGQSVYH VHLHVLGGRQ MHWPPG
Length:126
Mass (Da):13,802
Last modified:January 23, 2007 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i6C2B0119370384AA
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D6RD60D6RD60_HUMAN
Histidine triad nucleotide-binding ...
HINT1
103Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6RE99D6RE99_HUMAN
Histidine triad nucleotide-binding ...
HINT1
78Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6REP8D6REP8_HUMAN
Histidine triad nucleotide-binding ...
HINT1
78Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6RC06D6RC06_HUMAN
Histidine triad nucleotide-binding ...
HINT1
65Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YC49H0YC49_HUMAN
Histidine triad nucleotide-binding ...
HINT1
27Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti25K → E in BAB15500 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06921237R → P in NMAN; negligible protein expression due to post-translational degradation. 1 PublicationCorresponds to variant dbSNP:rs149782619EnsemblClinVar.1
Natural variantiVAR_06921351H → R in NMAN; no mutant protein is detected due to post-translational degradation. 1 PublicationCorresponds to variant dbSNP:rs397514491EnsemblClinVar.1
Natural variantiVAR_06921484C → R in NMAN; negligible protein expression due to post-translational degradation. 1 PublicationCorresponds to variant dbSNP:rs397514489EnsemblClinVar.1
Natural variantiVAR_06921589G → V in NMAN. 1 PublicationCorresponds to variant dbSNP:rs397514490EnsemblClinVar.1
Natural variantiVAR_06921693G → D in NMAN. 1 PublicationCorresponds to variant dbSNP:rs397514493EnsemblClinVar.1
Natural variantiVAR_069217112H → N in NMAN; the enzyme has no residual activity although the mutant protein is expressed at normal levels. 2 PublicationsCorresponds to variant dbSNP:rs373849532EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
U27143 mRNA Translation: AAA82926.1
U51004 mRNA Translation: AAC71077.1
AK026557 mRNA Translation: BAB15500.1
CR457048 mRNA Translation: CAG33329.1
BC001287 mRNA Translation: AAH01287.1
BC007090 mRNA Translation: AAH07090.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS4147.1

Protein sequence database of the Protein Information Resource

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PIRi
S72501

NCBI Reference Sequences

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RefSeqi
NP_005331.1, NM_005340.6

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000304043; ENSP00000304229; ENSG00000169567

Database of genes from NCBI RefSeq genomes

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GeneIDi
3094

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:3094

UCSC genome browser

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UCSCi
uc003kve.5 human

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U27143 mRNA Translation: AAA82926.1
U51004 mRNA Translation: AAC71077.1
AK026557 mRNA Translation: BAB15500.1
CR457048 mRNA Translation: CAG33329.1
BC001287 mRNA Translation: AAH01287.1
BC007090 mRNA Translation: AAH07090.1
CCDSiCCDS4147.1
PIRiS72501
RefSeqiNP_005331.1, NM_005340.6

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1AV5X-ray2.00A/B2-126[»]
1KPAX-ray2.00A/B2-126[»]
1KPBX-ray2.00A/B2-126[»]
1KPCX-ray2.20A/B/C/D2-126[»]
1KPEX-ray1.80A/B2-126[»]
1KPFX-ray1.50A2-126[»]
3TW2X-ray1.38A/B1-126[»]
4EQEX-ray1.52A/B1-126[»]
4EQGX-ray1.52A/B1-126[»]
4EQHX-ray1.67A/B1-126[»]
4ZKLX-ray2.34A/B/C/D1-126[»]
4ZKVX-ray1.92A/B/C/D1-126[»]
5ED3X-ray1.31A/B1-126[»]
5ED6X-ray1.52A/B1-126[»]
5EMTX-ray1.50A/B1-126[»]
5I2EX-ray1.60A/B1-126[»]
5I2FX-ray1.25A/B1-126[»]
5IPBX-ray1.55A/B1-126[»]
5IPCX-ray1.30A/B1-126[»]
5IPDX-ray1.75A/B1-126[»]
5IPEX-ray1.45A/B1-126[»]
5KLYX-ray1.30A/B1-126[»]
5KLZX-ray1.50A/B1-126[»]
5KM0X-ray1.53A/B/C/D1-126[»]
5KM1X-ray1.65A/B1-126[»]
5KM2X-ray1.25A/B1-126[»]
5KM3X-ray1.20A/B1-126[»]
5KM4X-ray1.40A/B1-126[»]
5KM6X-ray1.60A1-126[»]
5KMAX-ray1.55A/B1-126[»]
5KMBX-ray1.60A/B1-126[»]
5KMCX-ray1.35A/B1-126[»]
5O8IX-ray1.27A/B1-126[»]
5WA8X-ray1.30A/B1-126[»]
5WA9X-ray1.15A/B1-126[»]
5WAAX-ray1.10A/B1-126[»]
6B42X-ray1.13A1-126[»]
6G9ZX-ray1.43A/B1-126[»]
SMRiP49773
ModBaseiSearch...

Protein-protein interaction databases

BioGridi109341, 88 interactors
CORUMiP49773
IntActiP49773, 21 interactors
MINTiP49773
STRINGi9606.ENSP00000304229

Chemistry databases

BindingDBiP49773
ChEMBLiCHEMBL5878
DrugBankiDB02162 5'-O-(N-Ethyl-Sulfamoyl)Adenosine
DB03349 8-Bromo-Adenosine-5'-Monophosphate
DB00131 Adenosine phosphate
DB02183 Adenosine-5'-Ditungstate
DB01972 Guanosine-5'-Monophosphate
DB08934 Sofosbuvir

PTM databases

iPTMnetiP49773
PhosphoSitePlusiP49773
SwissPalmiP49773

Polymorphism and mutation databases

BioMutaiHINT1
DMDMi1708543

2D gel databases

OGPiP49773
UCD-2DPAGEiP49773

Proteomic databases

EPDiP49773
jPOSTiP49773
MassIVEiP49773
MaxQBiP49773
PaxDbiP49773
PeptideAtlasiP49773
PRIDEiP49773
ProteomicsDBi56116
TopDownProteomicsiP49773

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000304043; ENSP00000304229; ENSG00000169567
GeneIDi3094
KEGGihsa:3094
UCSCiuc003kve.5 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
3094
DisGeNETi3094

GeneCards: human genes, protein and diseases

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GeneCardsi
HINT1
GeneReviewsiHINT1
HGNCiHGNC:4912 HINT1
HPAiHPA044577
MalaCardsiHINT1
MIMi137200 phenotype
601314 gene
neXtProtiNX_P49773
OpenTargetsiENSG00000169567
Orphaneti324442 Autosomal recessive axonal neuropathy with neuromyotonia
PharmGKBiPA29286

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3275 Eukaryota
COG0537 LUCA
GeneTreeiENSGT00940000154451
HOGENOMiHOG000061064
InParanoidiP49773
KOiK02503
OMAiDQSIFHT
OrthoDBi1190598at2759
PhylomeDBiP49773
TreeFamiTF314862

Enzyme and pathway databases

SABIO-RKiP49773

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
HINT1 human
EvolutionaryTraceiP49773

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
HINT1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
3094

Pharos

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Pharosi
P49773

Protein Ontology

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PROi
PR:P49773

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000169567 Expressed in 237 organ(s), highest expression level in oocyte
ExpressionAtlasiP49773 baseline and differential
GenevisibleiP49773 HS

Family and domain databases

Gene3Di3.30.428.10, 1 hit
InterProiView protein in InterPro
IPR019808 Histidine_triad_CS
IPR001310 Histidine_triad_HIT
IPR011146 HIT-like
IPR036265 HIT-like_sf
PfamiView protein in Pfam
PF01230 HIT, 1 hit
PRINTSiPR00332 HISTRIAD
SUPFAMiSSF54197 SSF54197, 1 hit
PROSITEiView protein in PROSITE
PS00892 HIT_1, 1 hit
PS51084 HIT_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiHINT1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P49773
Secondary accession number(s): Q9H5W8
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: January 23, 2007
Last modified: September 18, 2019
This is version 193 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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