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UniProtKB - Q6NT76 (HMBX1_HUMAN)

Entry version 149 (10 Apr 2019)
Sequence version 1 (05 Jul 2004)
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Protein

Homeobox-containing protein 1

Gene

HMBOX1

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

Binds directly to 5'-TTAGGG-3' repeats in telomeric DNA (PubMed:23813958, PubMed:23685356). Associates with the telomerase complex at sites of active telomere processing and positively regulates telomere elongation (PubMed:23685356). Important for TERT binding to chromatin, indicating a role in recruitment of the telomerase complex to telomeres (By similarity). Also plays a role in the alternative lengthening of telomeres (ALT) pathway in telomerase-negative cells where it promotes formation and/or maintenance of ALT-associated promyelocytic leukemia bodies (APBs) (PubMed:23813958). Enhances formation of telomere C-circles in ALT cells, suggesting a possible role in telomere recombination (PubMed:23813958). Might also be involved in the DNA damage response at telomeres (PubMed:23813958).By similarity2 Publications

Caution

Reported to have transcriptional repression activity in vitro (PubMed:16825764, PubMed:19757162). However, it is unclear whether this protein has any function in transcription in vivo.Curated2 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections (‘Function’, ‘PTM / Processing’, ‘Pathology and Biotech’) according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei335Critical for recognition and binding of 5'-TTAGGG-3' motifs in telomeric DNA1 Publication1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section specifies the position and type of each DNA-binding domain present within the protein.<p><a href='/help/dna_bind' target='_top'>More...</a></p>DNA bindingi267 – 341HomeoboxPROSITE-ProRule annotation1 PublicationAdd BLAST75

<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

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

<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 functionDNA-binding

<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:
Homeobox-containing protein 11 Publication
Alternative name(s):
Homeobox telomere-binding protein 11 Publication
Telomere-associated homeobox-containing protein 11 Publication
<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:HMBOX11 Publication
Synonyms:HOT11 Publication, TAH11 Publication
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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 8

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000147421.17

Human Gene Nomenclature Database

More...HGNCi		HGNC:26137 HMBOX1

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q6NT76

<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

Chromosome, Cytoplasm, Nucleus, Telomere

<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

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>Mutagenesisi271R → A: Abolishes binding to telomeric 5'-TTAGGG-3' motif. 1 Publication1
Mutagenesisi325K → E: Abolishes binding to telomeric 5'-TTAGGG-3' motif. 1 Publication1
Mutagenesisi327Y → A: Impairs binding to telomeric 5'-TTAGGG-3' motif. 1 Publication1
Mutagenesisi334R → A: Impairs binding to telomeric 5'-TTAGGG-3' motif. 1 Publication1
Mutagenesisi335K → A: Abolishes binding to telomeric 5'-TTAGGG-3' motif. Confers binding to the non-telomeric 5'-GTGAGT-3' motif. 1 Publication1
Mutagenesisi338K → A: Impairs binding to telomeric 5'-TTAGGG-3' motif. 1 Publication1
Mutagenesisi339R → A: Abolishes binding to telomeric 5'-TTAGGG-3' motif. 1 Publication1

Organism-specific databases

DisGeNET

More...DisGeNETi		79618

Open Targets

More...OpenTargetsi		ENSG00000147421

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA143485490

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		HMBOX1

Domain mapping of disease mutations (DMDM)

More...DMDMi		74758116

<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 ‘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_00002332871 – 420Homeobox-containing protein 1Add BLAST420

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki60Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki131Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
<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 residuei148PhosphoserineCombined sources1
Cross-linki161Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei170PhosphoserineCombined sources1
Cross-linki174Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki217Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki310Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki413Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternateCombined sources
Cross-linki413Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q6NT76

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q6NT76

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q6NT76

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

More...PaxDbi		Q6NT76

PeptideAtlas

More...PeptideAtlasi		Q6NT76

PRoteomics IDEntifications database

More...PRIDEi		Q6NT76

ProteomicsDB human proteome resource

More...ProteomicsDBi		66662
66663 [Q6NT76-2]
66664 [Q6NT76-3]
66665 [Q6NT76-4]
66666 [Q6NT76-5]

Consortium for Top Down Proteomics

More...TopDownProteomicsi		Q6NT76-4 [Q6NT76-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q6NT76

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

More...PhosphoSitePlusi		Q6NT76

<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

Ubiquitous. Detected in pancreas, brain, spleen, placenta, prostate, thymus, liver, heart, bone marrow, skeletal muscle, stomach, uterus, testis, kidney, ovary, colon, lung, cardiac muscle and thyroid gland.3 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000147421 Expressed in 225 organ(s), highest expression level in heart

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q6NT76 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q6NT76 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		CAB070418
HPA055855
HPA058586

<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

Associates with the telomerase holoenzyme complex. Interacts with DKC1, XRCC6 and COIL.1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		122750, 66 interactors

Protein interaction database and analysis system

More...IntActi		Q6NT76, 115 interactors

Molecular INTeraction database

More...MINTi		Q6NT76

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000380516

<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

1420
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2CUFNMR-A268-350[»]
4J19X-ray2.90A/B233-345[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...ProteinModelPortali		Q6NT76

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

More...SMRi		Q6NT76

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		Q6NT76

<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

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The homeobox domain is required for binding to 5'-TTAGGG-3' repeats in telomeres, and for telomere localization.2 Publications

Keywords - Domaini

Homeobox

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG410IIRR Eukaryota
ENOG4111F86 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000154928

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG061176

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q6NT76

Identification of Orthologs from Complete Genome Data

More...OMAi		XAAILES

Database of Orthologous Groups

More...OrthoDBi		1342373at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q6NT76

TreeFam database of animal gene trees

More...TreeFami		TF320327

Family and domain databases

Conserved Domains Database

More...CDDi		cd00086 homeodomain, 1 hit
cd00093 HTH_XRE, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR001387 Cro/C1-type_HTH
IPR040363 HMBOX1
IPR006899 HNF-1_N
IPR009057 Homeobox-like_sf
IPR001356 Homeobox_dom
IPR010982 Lambda_DNA-bd_dom_sf

The PANTHER Classification System

More...PANTHERi		PTHR14618 PTHR14618, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF04814 HNF-1_N, 1 hit
PF00046 Homeodomain, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00389 HOX, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF46689 SSF46689, 1 hit
SSF47413 SSF47413, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50071 HOMEOBOX_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>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (5+)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.

This entry describes 5 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

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

Isoform 1 (identifier: Q6NT76-1) [UniParc]FASTAAdd to basket
Also known as: HMBOX1A

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MLSSFPVVLL ETMSHYTDEP RFTIEQIDLL QRLRRTGMTK HEILHALETL 
        60         70         80         90        100
DRLDQEHSDK FGRRSSYGGS SYGNSTNNVP ASSSTATAST QTQHSGMSPS 
       110        120        130        140        150
PSNSYDTSPQ PCTTNQNGRE NNERLSTSNG KMSPTRYHAN SMGQRSYSFE 
       160        170        180        190        200
ASEEDLDVDD KVEELMRRDS SVIKEEIKAF LANRRISQAV VAQVTGISQS 
       210        220        230        240        250
RISHWLLQQG SDLSEQKKRA FYRWYQLEKT NPGATLSMRP APIPIEDPEW 
       260        270        280        290        300
RQTPPPVSAT SGTFRLRRGS RFTWRKECLA VMESYFNENQ YPDEAKREEI 
       310        320        330        340        350
ANACNAVIQK PGKKLSDLER VTSLKVYNWF ANRRKEIKRR ANIEAAILES 
       360        370        380        390        400
HGIDVQSPGG HSNSDDVDGN DYSEQDDSTS HSDHQDPISL AVEMAAVNHT 
       410        420
ILALARQGAN EIKTEALDDD
Length:420
Mass (Da):47,278
Last modified:July 5, 2004 - v1
<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:iBB47AB7DE3B96996
GO
Isoform 2 (identifier: Q6NT76-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     344-344: Missing.
     377-420: DSTSHSDHQDPISLAVEMAAVNHTILALARQGANEIKTEALDDD → TWQVRNGEEEEGRSSEGGREAEKVEEERRI

Show »
Length:405
Mass (Da):45,981
Checksum:i880A0A8CB7FD20CC
GO
Isoform 3 (identifier: Q6NT76-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     344-345: Missing.

Show »
Length:418
Mass (Da):47,078
Checksum:iC4AD3336D2DDE2A5
GO
Isoform 4 (identifier: Q6NT76-4) [UniParc]FASTAAdd to basket
Also known as: HMBOX1b

The sequence of this isoform differs from the canonical sequence as follows:
     284-304: SYFNENQYPDEAKREEIANAC → RNTWSPERRMEENKWKLLSAG
     305-420: Missing.

Show »
Length:304
Mass (Da):34,629
Checksum:i0EC7468AFDEC2062
GO
Isoform 5 (identifier: Q6NT76-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     344-344: Missing.
     375-375: Q → QDTWQVRNGEEEEGRSSEGGREAEK

Show »
Length:443
Mass (Da):49,867
Checksum:i55213CEAF72622C7
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
H0YKJ1H0YKJ1_HUMAN
Homeobox-containing protein 1
HMBOX1
396Annotation score:

Annotation score:2 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>
E5RGZ2E5RGZ2_HUMAN
Homeobox-containing protein 1
HMBOX1
386Annotation score:

Annotation score:2 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>
H0YLF2H0YLF2_HUMAN
Homeobox-containing protein 1
HMBOX1
364Annotation score:

Annotation score:2 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>
E5RHH9E5RHH9_HUMAN
Homeobox-containing protein 1
HMBOX1
118Annotation 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>
H0YBM8H0YBM8_HUMAN
Homeobox-containing protein 1
HMBOX1
45Annotation 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>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAB15099 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

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 conflicti167R → G in AAZ81565 (Ref. 6) Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_038983284 – 304SYFNE…IANAC → RNTWSPERRMEENKWKLLSA G in isoform 4. 1 PublicationAdd BLAST21
Alternative sequenceiVSP_038984305 – 420Missing in isoform 4. 1 PublicationAdd BLAST116
Alternative sequenceiVSP_018111344 – 345Missing in isoform 3. 1 Publication2
Alternative sequenceiVSP_018112344Missing in isoform 2 and isoform 5. 2 Publications1
Alternative sequenceiVSP_038985375Q → QDTWQVRNGEEEEGRSSEGG REAEK in isoform 5. 1 Publication1
Alternative sequenceiVSP_018113377 – 420DSTSH…ALDDD → TWQVRNGEEEEGRSSEGGRE AEKVEEERRI in isoform 2. 1 PublicationAdd BLAST44

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AY522342 mRNA Translation: AAS76643.1
DQ269478 mRNA Translation: ABB82947.1
AK025269 mRNA Translation: BAB15099.1 Different initiation.
AK290683 mRNA Translation: BAF83372.1
AK295320 mRNA Translation: BAG58297.1
CH471080 Genomic DNA Translation: EAW63496.1
CH471080 Genomic DNA Translation: EAW63499.1
CH471080 Genomic DNA Translation: EAW63500.1
BC009259 mRNA Translation: AAH09259.2
BC069242 mRNA Translation: AAH69242.1
DQ153248 mRNA Translation: AAZ81565.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS6071.1 [Q6NT76-1]
CCDS83273.1 [Q6NT76-5]
CCDS83274.1 [Q6NT76-2]

NCBI Reference Sequences

More...RefSeqi		NP_001129198.1, NM_001135726.2 [Q6NT76-1]
NP_001311311.1, NM_001324382.1 [Q6NT76-1]
NP_001311312.1, NM_001324383.1
NP_001311313.1, NM_001324384.1
NP_001311314.1, NM_001324385.1
NP_001311315.1, NM_001324386.1
NP_001311316.1, NM_001324387.1 [Q6NT76-3]
NP_001311317.1, NM_001324388.1 [Q6NT76-3]
NP_001311318.1, NM_001324389.1
NP_001311319.1, NM_001324390.1
NP_001311320.1, NM_001324391.1 [Q6NT76-2]
NP_001311321.1, NM_001324392.1 [Q6NT76-2]
NP_001311322.1, NM_001324393.1
NP_001311323.1, NM_001324394.1
NP_001311324.1, NM_001324395.1
NP_001317427.1, NM_001330498.1 [Q6NT76-5]
NP_078843.2, NM_024567.4 [Q6NT76-1]
XP_016869314.1, XM_017013825.1 [Q6NT76-4]

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.563560
Hs.591836
Hs.598881

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000287701; ENSP00000287701; ENSG00000147421 [Q6NT76-1]
ENST00000397358; ENSP00000380516; ENSG00000147421 [Q6NT76-1]
ENST00000521516; ENSP00000430238; ENSG00000147421 [Q6NT76-4]
ENST00000524238; ENSP00000430110; ENSG00000147421 [Q6NT76-5]
ENST00000558662; ENSP00000453211; ENSG00000147421 [Q6NT76-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		79618

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:79618

UCSC genome browser

More...UCSCi		uc003xhd.5 human [Q6NT76-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
AY522342 mRNA Translation: AAS76643.1
DQ269478 mRNA Translation: ABB82947.1
AK025269 mRNA Translation: BAB15099.1 Different initiation.
AK290683 mRNA Translation: BAF83372.1
AK295320 mRNA Translation: BAG58297.1
CH471080 Genomic DNA Translation: EAW63496.1
CH471080 Genomic DNA Translation: EAW63499.1
CH471080 Genomic DNA Translation: EAW63500.1
BC009259 mRNA Translation: AAH09259.2
BC069242 mRNA Translation: AAH69242.1
DQ153248 mRNA Translation: AAZ81565.1
CCDSiCCDS6071.1 [Q6NT76-1]
CCDS83273.1 [Q6NT76-5]
CCDS83274.1 [Q6NT76-2]
RefSeqiNP_001129198.1, NM_001135726.2 [Q6NT76-1]
NP_001311311.1, NM_001324382.1 [Q6NT76-1]
NP_001311312.1, NM_001324383.1
NP_001311313.1, NM_001324384.1
NP_001311314.1, NM_001324385.1
NP_001311315.1, NM_001324386.1
NP_001311316.1, NM_001324387.1 [Q6NT76-3]
NP_001311317.1, NM_001324388.1 [Q6NT76-3]
NP_001311318.1, NM_001324389.1
NP_001311319.1, NM_001324390.1
NP_001311320.1, NM_001324391.1 [Q6NT76-2]
NP_001311321.1, NM_001324392.1 [Q6NT76-2]
NP_001311322.1, NM_001324393.1
NP_001311323.1, NM_001324394.1
NP_001311324.1, NM_001324395.1
NP_001317427.1, NM_001330498.1 [Q6NT76-5]
NP_078843.2, NM_024567.4 [Q6NT76-1]
XP_016869314.1, XM_017013825.1 [Q6NT76-4]
UniGeneiHs.563560
Hs.591836
Hs.598881

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2CUFNMR-A268-350[»]
4J19X-ray2.90A/B233-345[»]
ProteinModelPortaliQ6NT76
SMRiQ6NT76
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122750, 66 interactors
IntActiQ6NT76, 115 interactors
MINTiQ6NT76
STRINGi9606.ENSP00000380516

PTM databases

iPTMnetiQ6NT76
PhosphoSitePlusiQ6NT76

Polymorphism and mutation databases

BioMutaiHMBOX1
DMDMi74758116

Proteomic databases

EPDiQ6NT76
jPOSTiQ6NT76
MaxQBiQ6NT76
PaxDbiQ6NT76
PeptideAtlasiQ6NT76
PRIDEiQ6NT76
ProteomicsDBi66662
66663 [Q6NT76-2]
66664 [Q6NT76-3]
66665 [Q6NT76-4]
66666 [Q6NT76-5]
TopDownProteomicsiQ6NT76-4 [Q6NT76-4]

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		79618
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000287701; ENSP00000287701; ENSG00000147421 [Q6NT76-1]
ENST00000397358; ENSP00000380516; ENSG00000147421 [Q6NT76-1]
ENST00000521516; ENSP00000430238; ENSG00000147421 [Q6NT76-4]
ENST00000524238; ENSP00000430110; ENSG00000147421 [Q6NT76-5]
ENST00000558662; ENSP00000453211; ENSG00000147421 [Q6NT76-2]
GeneIDi79618
KEGGihsa:79618
UCSCiuc003xhd.5 human [Q6NT76-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		79618
DisGeNETi79618
EuPathDBiHostDB:ENSG00000147421.17

GeneCards: human genes, protein and diseases

More...GeneCardsi		HMBOX1
HGNCiHGNC:26137 HMBOX1
HPAiCAB070418
HPA055855
HPA058586
neXtProtiNX_Q6NT76
OpenTargetsiENSG00000147421
PharmGKBiPA143485490

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG410IIRR Eukaryota
ENOG4111F86 LUCA
GeneTreeiENSGT00940000154928
HOVERGENiHBG061176
InParanoidiQ6NT76
OMAiXAAILES
OrthoDBi1342373at2759
PhylomeDBiQ6NT76
TreeFamiTF320327

Miscellaneous databases

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

More...ChiTaRSi		HMBOX1 human
EvolutionaryTraceiQ6NT76

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

More...GenomeRNAii		79618

Protein Ontology

More...PROi		PR:Q6NT76

Gene expression databases

BgeeiENSG00000147421 Expressed in 225 organ(s), highest expression level in heart
ExpressionAtlasiQ6NT76 baseline and differential
GenevisibleiQ6NT76 HS

Family and domain databases

CDDicd00086 homeodomain, 1 hit
cd00093 HTH_XRE, 1 hit
InterProiView protein in InterPro
IPR001387 Cro/C1-type_HTH
IPR040363 HMBOX1
IPR006899 HNF-1_N
IPR009057 Homeobox-like_sf
IPR001356 Homeobox_dom
IPR010982 Lambda_DNA-bd_dom_sf
PANTHERiPTHR14618 PTHR14618, 1 hit
PfamiView protein in Pfam
PF04814 HNF-1_N, 1 hit
PF00046 Homeodomain, 1 hit
SMARTiView protein in SMART
SM00389 HOX, 1 hit
SUPFAMiSSF46689 SSF46689, 1 hit
SSF47413 SSF47413, 1 hit
PROSITEiView protein in PROSITE
PS50071 HOMEOBOX_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		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 nameiHMBX1_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: Q6NT76
Secondary accession number(s): A4K385
, A8K3R8, B4DHY5, D3DSU0, Q3Y6P1, Q96GS5, Q9H701
<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: May 2, 2006
Last sequence update: July 5, 2004
Last modified: April 10, 2019
This is version 149 of the entry and version 1 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, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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