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Protein

Homeobox-containing protein 1

Gene

Hmbox1

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Binds directly to 5'-TTAGGG-3' repeats in telomeric DNA (By similarity). Associates with the telomerase complex at sites of active telomere processing and positively regulates telomere elongation (By similarity). Important for TERT binding to chromatin, indicating a role in recruitment of the telomerase complex to telomeres (PubMed:23685356). 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) (By similarity). Enhances formation of telomere C-circles in ALT cells, suggesting a possible role in telomere recombination (By similarity). Might also be involved in the DNA damage response at telomeres (By similarity).By similarity1 Publication

Caution

Reported to have transcriptional repression activity in vitro. However, it is unclear whether this protein has any function in transcription in vivo.By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei335Critical for recognition and binding of 5'-TTAGGG-3' motifs in telomeric DNABy similarity1

Regions

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

GO - Molecular functioni

  • double-stranded telomeric DNA binding Source: MGI
  • identical protein binding Source: MGI
  • protein-containing complex binding Source: BHF-UCL
  • sequence-specific DNA binding Source: MGI
  • telomeric DNA binding Source: BHF-UCL

GO - Biological processi

Keywordsi

Molecular functionDNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Homeobox-containing protein 1
Gene namesi
Name:Hmbox1
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 14

Organism-specific databases

MGIiMGI:2445066 Hmbox1

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002332881 – 419Homeobox-containing protein 1Add BLAST419

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Cross-linki60Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)By similarity
Cross-linki131Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)By similarity
Modified residuei148PhosphoserineBy similarity1
Cross-linki161Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)By similarity
Modified residuei170PhosphoserineBy similarity1
Cross-linki174Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)By similarity
Cross-linki217Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)By similarity
Cross-linki310Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)By similarity
Cross-linki412Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternateBy similarity
Cross-linki412Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateBy similarity

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

PaxDbiQ8BJA3
PRIDEiQ8BJA3

PTM databases

iPTMnetiQ8BJA3
PhosphoSitePlusiQ8BJA3

Expressioni

Gene expression databases

BgeeiENSMUSG00000021972 Expressed in 285 organ(s), highest expression level in lung
CleanExiMM_HMBOX1
ExpressionAtlasiQ8BJA3 baseline and differential
GenevisibleiQ8BJA3 MM

Interactioni

Subunit structurei

Associates with the telomerase holoenzyme complex. Interacts with DKC1, XRCC6 and COIL.By similarity

GO - Molecular functioni

Protein-protein interaction databases

IntActiQ8BJA3, 10 interactors
MINTiQ8BJA3
STRINGi10090.ENSMUSP00000066905

Structurei

3D structure databases

ProteinModelPortaliQ8BJA3
SMRiQ8BJA3
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domaini

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

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiENOG410IIRR Eukaryota
ENOG4111F86 LUCA
GeneTreeiENSGT00920000149039
HOGENOMiHOG000263417
HOVERGENiHBG061176
InParanoidiQ8BJA3
OMAiXAAILES
PhylomeDBiQ8BJA3

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 (4+)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8BJA3-1) [UniParc]FASTAAdd to basket

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
PSNSYDTSPL PCTTNQNGRE NNDRLSTSNG KMSPSRYHAN 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 PGTFRLRRGS RFTWRKECLA VMESYFNENQ YPDEAKREEI
310 320 330 340 350
ANACNAVIQK PGKKLSDLER VTSLKVYNWF ANRRKEIKRR ANIAAILESH
360 370 380 390 400
GIDVQSPGGH SNSDDVDGND YSEQDDSTSH SDHQDPISLA VEMAAVNHTI
410
LALARQGANE IKTEALDDD
Length:419
Mass (Da):47,116
Last modified:March 1, 2003 - v1
Checksum:i3F204060F1D0AE70
GO
Isoform 2 (identifier: Q8BJA3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     343-343: I → IE
     375-419: DDSTSHSDHQDPISLAVEMAAVNHTILALARQGANEIKTEALDDD → SSFAGALIQLERQKGPPGCQQLPVLSGLL

Show »
Length:404
Mass (Da):45,438
Checksum:i4127A54082332EEF
GO
Isoform 3 (identifier: Q8BJA3-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     376-419: DSTSHSDHQDPISLAVEMAAVNHTILALARQGANEIKTEALDDD → TWQARNGEEEEERSSEGGREAEKVEEERRI

Note: No experimental confirmation available.
Show »
Length:405
Mass (Da):45,992
Checksum:i57CA1805DF1BE385
GO
Isoform 4 (identifier: Q8BJA3-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     375-419: DDSTSHSDHQDPISLAVEMAAVNHTILALARQGANEIKTEALDDD → SSFAGALIQLERQKGPPGCQQLPVLSGLL

Note: No experimental confirmation available.
Show »
Length:403
Mass (Da):45,308
Checksum:iDB0E26283B50B706
GO

Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H3BKM3H3BKM3_MOUSE
Homeobox-containing protein 1
Hmbox1
420Annotation score:
H3BK13H3BK13_MOUSE
Homeobox-containing protein 1
Hmbox1
408Annotation score:
H3BK67H3BK67_MOUSE
Homeobox containing 1, isoform CRA_...
Hmbox1 mCG_2468
405Annotation score:
H3BL55H3BL55_MOUSE
Homeobox-containing protein 1
Hmbox1
416Annotation score:
H3BKF8H3BKF8_MOUSE
Homeobox-containing protein 1
Hmbox1
445Annotation score:
H3BJ31H3BJ31_MOUSE
Homeobox-containing protein 1
Hmbox1
364Annotation score:

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_018114343I → IE in isoform 2. 1 Publication1
Alternative sequenceiVSP_018115375 – 419DDSTS…ALDDD → SSFAGALIQLERQKGPPGCQ QLPVLSGLL in isoform 2 and isoform 4. 1 PublicationAdd BLAST45
Alternative sequenceiVSP_018116376 – 419DSTSH…ALDDD → TWQARNGEEEEERSSEGGRE AEKVEEERRI in isoform 3. 1 PublicationAdd BLAST44

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK052729 mRNA Translation: BAC35118.1
AK089782 mRNA Translation: BAC40961.1
BC002212 mRNA Translation: AAH02212.1
BC051457 mRNA Translation: AAH51457.1
CCDSiCCDS36955.1 [Q8BJA3-1]
CCDS84149.1 [Q8BJA3-2]
RefSeqiNP_001334555.1, NM_001347626.1
NP_001334556.1, NM_001347627.1 [Q8BJA3-2]
NP_796312.2, NM_177338.6 [Q8BJA3-1]
XP_011243336.1, XM_011245034.2 [Q8BJA3-2]
XP_011243337.1, XM_011245035.2 [Q8BJA3-4]
XP_011243338.1, XM_011245036.2 [Q8BJA3-4]
UniGeneiMm.344074
Mm.444000

Genome annotation databases

EnsembliENSMUST00000022544; ENSMUSP00000022544; ENSMUSG00000021972 [Q8BJA3-2]
ENSMUST00000067843; ENSMUSP00000066905; ENSMUSG00000021972 [Q8BJA3-1]
GeneIDi219150
KEGGimmu:219150
UCSCiuc007uip.1 mouse [Q8BJA3-4]
uc007uiq.1 mouse [Q8BJA3-2]
uc007uir.1 mouse [Q8BJA3-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK052729 mRNA Translation: BAC35118.1
AK089782 mRNA Translation: BAC40961.1
BC002212 mRNA Translation: AAH02212.1
BC051457 mRNA Translation: AAH51457.1
CCDSiCCDS36955.1 [Q8BJA3-1]
CCDS84149.1 [Q8BJA3-2]
RefSeqiNP_001334555.1, NM_001347626.1
NP_001334556.1, NM_001347627.1 [Q8BJA3-2]
NP_796312.2, NM_177338.6 [Q8BJA3-1]
XP_011243336.1, XM_011245034.2 [Q8BJA3-2]
XP_011243337.1, XM_011245035.2 [Q8BJA3-4]
XP_011243338.1, XM_011245036.2 [Q8BJA3-4]
UniGeneiMm.344074
Mm.444000

3D structure databases

ProteinModelPortaliQ8BJA3
SMRiQ8BJA3
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ8BJA3, 10 interactors
MINTiQ8BJA3
STRINGi10090.ENSMUSP00000066905

PTM databases

iPTMnetiQ8BJA3
PhosphoSitePlusiQ8BJA3

Proteomic databases

PaxDbiQ8BJA3
PRIDEiQ8BJA3

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000022544; ENSMUSP00000022544; ENSMUSG00000021972 [Q8BJA3-2]
ENSMUST00000067843; ENSMUSP00000066905; ENSMUSG00000021972 [Q8BJA3-1]
GeneIDi219150
KEGGimmu:219150
UCSCiuc007uip.1 mouse [Q8BJA3-4]
uc007uiq.1 mouse [Q8BJA3-2]
uc007uir.1 mouse [Q8BJA3-1]

Organism-specific databases

CTDi79618
MGIiMGI:2445066 Hmbox1

Phylogenomic databases

eggNOGiENOG410IIRR Eukaryota
ENOG4111F86 LUCA
GeneTreeiENSGT00920000149039
HOGENOMiHOG000263417
HOVERGENiHBG061176
InParanoidiQ8BJA3
OMAiXAAILES
PhylomeDBiQ8BJA3

Miscellaneous databases

PROiPR:Q8BJA3
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000021972 Expressed in 285 organ(s), highest expression level in lung
CleanExiMM_HMBOX1
ExpressionAtlasiQ8BJA3 baseline and differential
GenevisibleiQ8BJA3 MM

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_MOUSE
AccessioniPrimary (citable) accession number: Q8BJA3
Secondary accession number(s): Q80WC2, Q8BWE7, Q99LV1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 2, 2006
Last sequence update: March 1, 2003
Last modified: November 7, 2018
This is version 138 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
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Main funding by: National Institutes of Health

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