UniProtKB - Q6NT76 (HMBX1_HUMAN)
Homeobox-containing protein 1
HMBOX1
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 PublicationsCaution
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sitei | 335 | Critical for recognition and binding of 5'-TTAGGG-3' motifs in telomeric DNA1 Publication | 1 |
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
DNA bindingi | 267 – 341 | HomeoboxPROSITE-ProRule annotation1 PublicationAdd BLAST | 75 |
GO - Molecular functioni
- double-stranded telomeric DNA binding Source: BHF-UCL
- identical protein binding Source: IntAct
- protein-containing complex binding Source: BHF-UCL
- sequence-specific DNA binding Source: NTNU_SB
- sequence-specific double-stranded DNA binding Source: ARUK-UCL
- telomeric DNA binding Source: BHF-UCL
GO - Biological processi
- negative regulation of transcription, DNA-templated Source: UniProtKB
- negative regulation of transcription by RNA polymerase II Source: NTNU_SB
- positive regulation of chromatin binding Source: BHF-UCL
- positive regulation of telomerase activity Source: BHF-UCL
- positive regulation of telomere maintenance via telomerase Source: BHF-UCL
- positive regulation of transcription, DNA-templated Source: InterPro
- regulation of telomerase activity Source: BHF-UCL
Keywordsi
Molecular function | DNA-binding |
Biological process | Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | Q6NT76 |
SignaLinki | Q6NT76 |
SIGNORi | Q6NT76 |
Names & Taxonomyi
Protein namesi | Recommended name: Homeobox-containing protein 11 PublicationAlternative name(s): Homeobox telomere-binding protein 11 Publication Telomere-associated homeobox-containing protein 11 Publication |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:26137, HMBOX1 |
MIMi | 618610, gene |
neXtProti | NX_Q6NT76 |
VEuPathDBi | HostDB:ENSG00000147421 |
Subcellular locationi
Nucleus
- Nucleus 2 Publications
- Cajal body 1 Publication
- PML body 1 Publication
Cytoplasm and Cytosol
- Cytoplasm 2 Publications
Other locations
- telomere 2 Publications
Note: Predominantly detected in cytoplasm (PubMed:16825764, PubMed:19728927). Localizes in a dynamic manner to actively processed telomeres (PubMed:23685356). Localizes to the periphery of Cajal bodies (PubMed:23685356). Associates with PML nuclear bodies in telomerase-negative cells (PubMed:23813958).4 Publications
Cytoskeleton
- centrosome Source: HPA
Cytosol
- cytosol Source: HPA
Nucleus
- Cajal body Source: UniProtKB-SubCell
- nuclear body Source: HPA
- nucleoplasm Source: HPA
- nucleus Source: UniProtKB
- PML body Source: UniProtKB-SubCell
Other locations
- chromatin Source: NTNU_SB
- chromosome, telomeric region Source: BHF-UCL
- cytoplasm Source: UniProtKB
Keywords - Cellular componenti
Chromosome, Cytoplasm, Nucleus, TelomerePathology & Biotechi
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 271 | R → A: Abolishes binding to telomeric 5'-TTAGGG-3' motif. 1 Publication | 1 | |
Mutagenesisi | 325 | K → E: Abolishes binding to telomeric 5'-TTAGGG-3' motif. 1 Publication | 1 | |
Mutagenesisi | 327 | Y → A: Impairs binding to telomeric 5'-TTAGGG-3' motif. 1 Publication | 1 | |
Mutagenesisi | 334 | R → A: Impairs binding to telomeric 5'-TTAGGG-3' motif. 1 Publication | 1 | |
Mutagenesisi | 335 | K → A: Abolishes binding to telomeric 5'-TTAGGG-3' motif. Confers binding to the non-telomeric 5'-GTGAGT-3' motif. 1 Publication | 1 | |
Mutagenesisi | 338 | K → A: Impairs binding to telomeric 5'-TTAGGG-3' motif. 1 Publication | 1 | |
Mutagenesisi | 339 | R → A: Abolishes binding to telomeric 5'-TTAGGG-3' motif. 1 Publication | 1 |
Organism-specific databases
DisGeNETi | 79618 |
OpenTargetsi | ENSG00000147421 |
PharmGKBi | PA143485490 |
Miscellaneous databases
Pharosi | Q6NT76, Tbio |
Genetic variation databases
BioMutai | HMBOX1 |
DMDMi | 74758116 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000233287 | 1 – 420 | Homeobox-containing protein 1Add BLAST | 420 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Cross-linki | 60 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Cross-linki | 131 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Modified residuei | 148 | PhosphoserineCombined sources | 1 | |
Cross-linki | 161 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Modified residuei | 170 | PhosphoserineCombined sources | 1 | |
Cross-linki | 174 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Cross-linki | 217 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Cross-linki | 310 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Cross-linki | 413 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternateCombined sources | ||
Cross-linki | 413 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources |
Keywords - PTMi
Isopeptide bond, Phosphoprotein, Ubl conjugationProteomic databases
jPOSTi | Q6NT76 |
MassIVEi | Q6NT76 |
MaxQBi | Q6NT76 |
PaxDbi | Q6NT76 |
PeptideAtlasi | Q6NT76 |
PRIDEi | Q6NT76 |
ProteomicsDBi | 66662 [Q6NT76-1] 66663 [Q6NT76-2] 66664 [Q6NT76-3] 66665 [Q6NT76-4] 66666 [Q6NT76-5] |
TopDownProteomicsi | Q6NT76-4 [Q6NT76-4] |
PTM databases
GlyGeni | Q6NT76, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | Q6NT76 |
PhosphoSitePlusi | Q6NT76 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000147421, Expressed in heart and 235 other tissues |
ExpressionAtlasi | Q6NT76, baseline and differential |
Genevisiblei | Q6NT76, HS |
Organism-specific databases
HPAi | ENSG00000147421, Low tissue specificity |
Interactioni
Subunit structurei
Associates with the telomerase holoenzyme complex.
Interacts with DKC1, XRCC6 and COIL.
1 PublicationBinary interactionsi
Q6NT76
Isoform 2 [Q6NT76-2]
With | #Exp. | IntAct |
---|---|---|
FXR2 [P51116] | 3 | EBI-10212206,EBI-740459 |
MORF4L1 [Q9UBU8] | 3 | EBI-10212206,EBI-399246 |
REEP6 [Q96HR9] | 3 | EBI-10212206,EBI-750345 |
SFR1 [Q86XK3] | 3 | EBI-10212206,EBI-1104535 |
GO - Molecular functioni
- identical protein binding Source: IntAct
Protein-protein interaction databases
BioGRIDi | 122750, 126 interactors |
IntActi | Q6NT76, 120 interactors |
MINTi | Q6NT76 |
STRINGi | 9606.ENSP00000380516 |
Miscellaneous databases
RNActi | Q6NT76, protein |
Structurei
Secondary structure
3D structure databases
BMRBi | Q6NT76 |
SMRi | Q6NT76 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q6NT76 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 18 – 49 | HNF-p1PROSITE-ProRule annotationAdd BLAST | 32 | |
Domaini | 145 – 241 | POU-specific atypicalPROSITE-ProRule annotationAdd BLAST | 97 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 56 – 139 | DisorderedSequence analysisAdd BLAST | 84 | |
Regioni | 353 – 385 | DisorderedSequence analysisAdd BLAST | 33 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 64 – 139 | Polar residuesSequence analysisAdd BLAST | 76 |
Domaini
Keywords - Domaini
HomeoboxPhylogenomic databases
eggNOGi | ENOG502QQSR, Eukaryota |
GeneTreei | ENSGT00940000154928 |
HOGENOMi | CLU_052355_1_0_1 |
InParanoidi | Q6NT76 |
OMAi | EELMXIS |
OrthoDBi | 1342373at2759 |
PhylomeDBi | Q6NT76 |
TreeFami | TF320327 |
Family and domain databases
CDDi | cd00086, homeodomain, 1 hit cd00093, HTH_XRE, 1 hit |
Gene3Di | 1.10.260.40, 1 hit |
InterProi | View protein in InterPro IPR001387, Cro/C1-type_HTH IPR040363, HMBOX1 IPR006899, HNF-1_N IPR044869, HNF-1_POU IPR044866, HNF_P1 IPR009057, Homeobox-like_sf IPR001356, Homeobox_dom IPR010982, Lambda_DNA-bd_dom_sf |
PANTHERi | PTHR14618, PTHR14618, 1 hit |
Pfami | View protein in Pfam PF04814, HNF-1_N, 1 hit PF00046, Homeodomain, 1 hit |
SMARTi | View protein in SMART SM00389, HOX, 1 hit |
SUPFAMi | SSF46689, SSF46689, 1 hit SSF47413, SSF47413, 1 hit |
PROSITEi | View protein in PROSITE PS51937, HNF_P1, 1 hit PS50071, HOMEOBOX_2, 1 hit PS51936, POU_4, 1 hit |
s (5+)i Sequence
Sequence statusi: Complete.
This entry describes 5 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 5 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH0YKJ1 | H0YKJ1_HUMAN | Homeobox-containing protein 1 | HMBOX1 | 396 | Annotation score: | ||
E5RGZ2 | E5RGZ2_HUMAN | Homeobox-containing protein 1 | HMBOX1 | 386 | Annotation score: | ||
H0YLF2 | H0YLF2_HUMAN | Homeobox-containing protein 1 | HMBOX1 | 364 | Annotation score: | ||
E5RHH9 | E5RHH9_HUMAN | Homeobox-containing protein 1 | HMBOX1 | 118 | Annotation score: | ||
H0YBM8 | H0YBM8_HUMAN | Homeobox-containing protein 1 | HMBOX1 | 45 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 167 | R → G in AAZ81565 (Ref. 6) Curated | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_038983 | 284 – 304 | SYFNE…IANAC → RNTWSPERRMEENKWKLLSA G in isoform 4. 1 PublicationAdd BLAST | 21 | |
Alternative sequenceiVSP_038984 | 305 – 420 | Missing in isoform 4. 1 PublicationAdd BLAST | 116 | |
Alternative sequenceiVSP_018111 | 344 – 345 | Missing in isoform 3. 1 Publication | 2 | |
Alternative sequenceiVSP_018112 | 344 | Missing in isoform 2 and isoform 5. 2 Publications | 1 | |
Alternative sequenceiVSP_038985 | 375 | Q → QDTWQVRNGEEEEGRSSEGG REAEK in isoform 5. 1 Publication | 1 | |
Alternative sequenceiVSP_018113 | 377 – 420 | DSTSH…ALDDD → TWQVRNGEEEEGRSSEGGRE AEKVEEERRI in isoform 2. 1 PublicationAdd BLAST | 44 |
Sequence databases
Genome annotation databases
Ensembli | ENST00000287701; ENSP00000287701; ENSG00000147421 ENST00000397358; ENSP00000380516; ENSG00000147421 ENST00000521516; ENSP00000430238; ENSG00000147421 [Q6NT76-4] ENST00000524238; ENSP00000430110; ENSG00000147421 [Q6NT76-5] ENST00000558662; ENSP00000453211; ENSG00000147421 [Q6NT76-2] |
GeneIDi | 79618 |
KEGGi | hsa:79618 |
MANE-Selecti | ENST00000287701.15; ENSP00000287701.10; NM_001135726.3; NP_001129198.1 |
UCSCi | uc003xhd.5, human [Q6NT76-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2CUF | NMR | - | A | 268-350 | [»] | |
4J19 | X-ray | 2.90 | A/B | 233-345 | [»] | |
BMRBi | Q6NT76 | |||||
SMRi | Q6NT76 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 122750, 126 interactors |
IntActi | Q6NT76, 120 interactors |
MINTi | Q6NT76 |
STRINGi | 9606.ENSP00000380516 |
PTM databases
GlyGeni | Q6NT76, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | Q6NT76 |
PhosphoSitePlusi | Q6NT76 |
Genetic variation databases
BioMutai | HMBOX1 |
DMDMi | 74758116 |
Proteomic databases
jPOSTi | Q6NT76 |
MassIVEi | Q6NT76 |
MaxQBi | Q6NT76 |
PaxDbi | Q6NT76 |
PeptideAtlasi | Q6NT76 |
PRIDEi | Q6NT76 |
ProteomicsDBi | 66662 [Q6NT76-1] 66663 [Q6NT76-2] 66664 [Q6NT76-3] 66665 [Q6NT76-4] 66666 [Q6NT76-5] |
TopDownProteomicsi | Q6NT76-4 [Q6NT76-4] |
Protocols and materials databases
Antibodypediai | 10471, 166 antibodies from 27 providers |
DNASUi | 79618 |
Genome annotation databases
Ensembli | ENST00000287701; ENSP00000287701; ENSG00000147421 ENST00000397358; ENSP00000380516; ENSG00000147421 ENST00000521516; ENSP00000430238; ENSG00000147421 [Q6NT76-4] ENST00000524238; ENSP00000430110; ENSG00000147421 [Q6NT76-5] ENST00000558662; ENSP00000453211; ENSG00000147421 [Q6NT76-2] |
GeneIDi | 79618 |
KEGGi | hsa:79618 |
MANE-Selecti | ENST00000287701.15; ENSP00000287701.10; NM_001135726.3; NP_001129198.1 |
UCSCi | uc003xhd.5, human [Q6NT76-1] |
Organism-specific databases
CTDi | 79618 |
DisGeNETi | 79618 |
GeneCardsi | HMBOX1 |
HGNCi | HGNC:26137, HMBOX1 |
HPAi | ENSG00000147421, Low tissue specificity |
MIMi | 618610, gene |
neXtProti | NX_Q6NT76 |
OpenTargetsi | ENSG00000147421 |
PharmGKBi | PA143485490 |
VEuPathDBi | HostDB:ENSG00000147421 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QQSR, Eukaryota |
GeneTreei | ENSGT00940000154928 |
HOGENOMi | CLU_052355_1_0_1 |
InParanoidi | Q6NT76 |
OMAi | EELMXIS |
OrthoDBi | 1342373at2759 |
PhylomeDBi | Q6NT76 |
TreeFami | TF320327 |
Enzyme and pathway databases
PathwayCommonsi | Q6NT76 |
SignaLinki | Q6NT76 |
SIGNORi | Q6NT76 |
Miscellaneous databases
BioGRID-ORCSi | 79618, 6 hits in 1069 CRISPR screens |
ChiTaRSi | HMBOX1, human |
EvolutionaryTracei | Q6NT76 |
GenomeRNAii | 79618 |
Pharosi | Q6NT76, Tbio |
PROi | PR:Q6NT76 |
RNActi | Q6NT76, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000147421, Expressed in heart and 235 other tissues |
ExpressionAtlasi | Q6NT76, baseline and differential |
Genevisiblei | Q6NT76, HS |
Family and domain databases
CDDi | cd00086, homeodomain, 1 hit cd00093, HTH_XRE, 1 hit |
Gene3Di | 1.10.260.40, 1 hit |
InterProi | View protein in InterPro IPR001387, Cro/C1-type_HTH IPR040363, HMBOX1 IPR006899, HNF-1_N IPR044869, HNF-1_POU IPR044866, HNF_P1 IPR009057, Homeobox-like_sf IPR001356, Homeobox_dom IPR010982, Lambda_DNA-bd_dom_sf |
PANTHERi | PTHR14618, PTHR14618, 1 hit |
Pfami | View protein in Pfam PF04814, HNF-1_N, 1 hit PF00046, Homeodomain, 1 hit |
SMARTi | View protein in SMART SM00389, HOX, 1 hit |
SUPFAMi | SSF46689, SSF46689, 1 hit SSF47413, SSF47413, 1 hit |
PROSITEi | View protein in PROSITE PS51937, HNF_P1, 1 hit PS50071, HOMEOBOX_2, 1 hit PS51936, POU_4, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | HMBX1_HUMAN | |
Accessioni | Q6NT76Primary (citable) accession number: Q6NT76 Secondary accession number(s): A4K385 Q9H701 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | May 2, 2006 |
Last sequence update: | July 5, 2004 | |
Last modified: | February 23, 2022 | |
This is version 167 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 8
Human chromosome 8: entries, gene names and cross-references to MIM - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references