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Protein

Homeobox-containing protein 1

Gene

HMBOX1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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
Sitei335Critical for recognition and binding of 5'-TTAGGG-3' motifs in telomeric DNA1 Publication1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi267 – 341HomeoboxPROSITE-ProRule annotation1 PublicationAdd BLAST75

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDNA-binding

Names & Taxonomyi

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
Gene namesi
Name:HMBOX11 Publication
Synonyms:HOT11 Publication, TAH11 Publication
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

EuPathDBiHostDB:ENSG00000147421.17
HGNCiHGNC:26137 HMBOX1
neXtProtiNX_Q6NT76

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; Source: COMPARTMENTS

Keywords - Cellular componenti

Chromosome, Cytoplasm, Nucleus, Telomere

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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

DisGeNETi79618
OpenTargetsiENSG00000147421
PharmGKBiPA143485490

Polymorphism and mutation databases

BioMutaiHMBOX1
DMDMi74758116

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002332871 – 420Homeobox-containing protein 1Add BLAST420

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
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

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

PTM databases

iPTMnetiQ6NT76
PhosphoSitePlusiQ6NT76

Expressioni

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

BgeeiENSG00000147421 Expressed in 225 organ(s), highest expression level in heart
CleanExiHS_HMBOX1
ExpressionAtlasiQ6NT76 baseline and differential
GenevisibleiQ6NT76 HS

Organism-specific databases

HPAiCAB070418
HPA055855
HPA058586

Interactioni

Subunit structurei

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

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi122750, 62 interactors
IntActiQ6NT76, 114 interactors
MINTiQ6NT76
STRINGi9606.ENSP00000287701

Structurei

Secondary structure

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

3D structure databases

ProteinModelPortaliQ6NT76
SMRiQ6NT76
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ6NT76

Family & Domainsi

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

eggNOGiENOG410IIRR Eukaryota
ENOG4111F86 LUCA
GeneTreeiENSGT00920000149039
HOVERGENiHBG061176
InParanoidiQ6NT76
OMAiXAAILES
OrthoDBiEOG091G0DOI
PhylomeDBiQ6NT76
TreeFamiTF320327

Family and domain databases

CDDicd00086 homeodomain, 1 hit
cd00093 HTH_XRE, 1 hit
InterProiView protein in InterPro
IPR001387 Cro/C1-type_HTH
IPR006899 HNF-1_N
IPR009057 Homeobox-like_sf
IPR001356 Homeobox_dom
IPR010982 Lambda_DNA-bd_dom_sf
PfamiView protein in Pfam
PF04814 HNF-1_N, 1 hit
PF00046 Homeobox, 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

Sequences (5+)i

Sequence statusi: Complete.

This entry describes 5 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
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

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:
E5RGZ2E5RGZ2_HUMAN
Homeobox-containing protein 1
HMBOX1
386Annotation score:
H0YLF2H0YLF2_HUMAN
Homeobox-containing protein 1
HMBOX1
364Annotation score:
E5RHH9E5RHH9_HUMAN
Homeobox-containing protein 1
HMBOX1
118Annotation score:
H0YBM8H0YBM8_HUMAN
Homeobox-containing protein 1
HMBOX1
45Annotation score:

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti167R → G in AAZ81565 (Ref. 6) Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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:
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

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]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

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, 62 interactors
IntActiQ6NT76, 114 interactors
MINTiQ6NT76
STRINGi9606.ENSP00000287701

PTM databases

iPTMnetiQ6NT76
PhosphoSitePlusiQ6NT76

Polymorphism and mutation databases

BioMutaiHMBOX1
DMDMi74758116

Proteomic databases

EPDiQ6NT76
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

DNASUi79618
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

CTDi79618
DisGeNETi79618
EuPathDBiHostDB:ENSG00000147421.17
GeneCardsiHMBOX1
HGNCiHGNC:26137 HMBOX1
HPAiCAB070418
HPA055855
HPA058586
neXtProtiNX_Q6NT76
OpenTargetsiENSG00000147421
PharmGKBiPA143485490
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IIRR Eukaryota
ENOG4111F86 LUCA
GeneTreeiENSGT00920000149039
HOVERGENiHBG061176
InParanoidiQ6NT76
OMAiXAAILES
OrthoDBiEOG091G0DOI
PhylomeDBiQ6NT76
TreeFamiTF320327

Miscellaneous databases

ChiTaRSiHMBOX1 human
EvolutionaryTraceiQ6NT76
GenomeRNAii79618
PROiPR:Q6NT76

Gene expression databases

BgeeiENSG00000147421 Expressed in 225 organ(s), highest expression level in heart
CleanExiHS_HMBOX1
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
IPR006899 HNF-1_N
IPR009057 Homeobox-like_sf
IPR001356 Homeobox_dom
IPR010982 Lambda_DNA-bd_dom_sf
PfamiView protein in Pfam
PF04814 HNF-1_N, 1 hit
PF00046 Homeobox, 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
ProtoNetiSearch...

Entry informationi

Entry nameiHMBX1_HUMAN
AccessioniPrimary (citable) accession number: Q6NT76
Secondary accession number(s): A4K385
, A8K3R8, B4DHY5, D3DSU0, Q3Y6P1, Q96GS5, Q9H701
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 2, 2006
Last sequence update: July 5, 2004
Last modified: October 10, 2018
This is version 144 of the entry and version 1 of the sequence. See complete history.
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.

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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