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 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 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
Inferred from direct assayⁱ
- 23685356
identical protein binding
Source: IntAct
Inferred from physical interactionⁱ
- 25416956
protein-containing complex binding
Source: BHF-UCL
Inferred from physical interactionⁱ
- 23685356
RNA polymerase II transcription factor activity, sequence-specific DNA binding Source: NTNU_SB
sequence-specific DNA binding
Source: NTNU_SB
Inferred from direct assayⁱ
- 23332764
- 28473536
telomeric DNA binding
Source: BHF-UCL
Inferred from direct assayⁱ
- 23685356
transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding Source: NTNU_SB

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

negative regulation of transcription, DNA-templated
Source: UniProtKB
Inferred from direct assayⁱ
- 19757162
negative regulation of transcription by RNA polymerase II
Source: NTNU_SB
Inferred from direct assayⁱ
- 21839858
positive regulation of chromatin binding Source: BHF-UCL
positive regulation of telomerase activity
Source: BHF-UCL
Inferred from direct assayⁱ
- 23685356
positive regulation of telomere maintenance via telomerase
Source: BHF-UCL
Inferred from direct assayⁱ
- 23685356
positive regulation of transcription, DNA-templated Source: InterPro
RNA-dependent DNA biosynthetic process Source: GOC
transcription, DNA-templated Source: UniProtKB-KW

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	DNA-binding

Molecular function

DNA-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
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 8

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000147421.17
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:26137 HMBOX1
neXtProtⁱ	NX_Q6NT76

Keywords - Cellular componentⁱ

Chromosome, Cytoplasm, Nucleus, Telomere

Pathology & Biotechⁱ

Mutagenesis

Feature key	Position(s)	DescriptionActions	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

DisGeNET More...DisGeNETⁱ	79618
Open Targets More...OpenTargetsⁱ	ENSG00000147421
PharmGKBⁱ	PA143485490

Polymorphism and mutation 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	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 conjugation

Proteomic databases

EPDⁱ	Q6NT76
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q6NT76
PaxDbⁱ	Q6NT76
PeptideAtlas More...PeptideAtlasⁱ	Q6NT76
PRIDEⁱ	Q6NT76
ProteomicsDBⁱ	66662 66663 [Q6NT76-2] 66664 [Q6NT76-3] 66665 [Q6NT76-4] 66666 [Q6NT76-5]
TopDownProteomicsⁱ	Q6NT76-4 [Q6NT76-4]

PTM databases

iPTMnetⁱ	Q6NT76
PhosphoSitePlusⁱ	Q6NT76

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

Bgeeⁱ	ENSG00000147421 Expressed in 225 organ(s), highest expression level in heart
CleanExⁱ	HS_HMBOX1
ExpressionAtlasⁱ	Q6NT76 baseline and differential
Genevisibleⁱ	Q6NT76 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	CAB070418 HPA055855 HPA058586

HPAⁱ

CAB070418
HPA055855
HPA058586

Interactionⁱ

Subunit structureⁱ

Binary interactionsⁱ

With	Entry	#Exp.	IntAct
itself		3	EBI-2549423,EBI-2549423
AEBP2	Q6ZN18-2	5	EBI-2549423,EBI-10255023
ASB7	Q9H672	3	EBI-2549423,EBI-3916346
ATP5O	P48047	3	EBI-2549423,EBI-355815
BYSL	Q13895	7	EBI-2549423,EBI-358049
C8orf33	Q9H7E9	5	EBI-2549423,EBI-715389
CARD9	Q9H257	3	EBI-2549423,EBI-751319
CBX8	Q9HC52	5	EBI-2549423,EBI-712912
CCNG1	P51959	3	EBI-2549423,EBI-3905829
DAB1	O75553	3	EBI-2549423,EBI-7875264
DKC1	O60832	2	EBI-2549423,EBI-713091
DYNLL2	Q96FJ2	3	EBI-2549423,EBI-742371
FAM13C	Q8NE31	3	EBI-2549423,EBI-751248
FAM161A	Q3B820	5	EBI-2549423,EBI-719941
FAM206A	Q9NX38	5	EBI-2549423,EBI-9105722
FAM74A6	Q5TZK3	3	EBI-2549423,EBI-10247271
FARS2	O95363	3	EBI-2549423,EBI-2513774
FNDC11	Q9BVV2	3	EBI-2549423,EBI-744935
FRMD6	Q96NE9	3	EBI-2549423,EBI-741729
FXR2	P51116	3	EBI-10212206,EBI-740459
KAT5	Q92993	5	EBI-2549423,EBI-399080
LNX1	Q8TBB1	3	EBI-2549423,EBI-739832
MAGEH1	Q9H213	3	EBI-2549423,EBI-473834
MCRS1	Q96EZ8	4	EBI-2549423,EBI-348259
MFAP1	P55081	5	EBI-2549423,EBI-1048159
MORF4L1	Q9UBU8	3	EBI-2549423,EBI-399246
MRPL11	Q9Y3B7	3	EBI-2549423,EBI-5453723
MRPL28	Q13084	3	EBI-2549423,EBI-723426
NPIPA7	E9PJI5	3	EBI-2549423,EBI-10177044
PIP4K2B	P78356	5	EBI-2549423,EBI-947090
PRKAA1	Q13131	3	EBI-2549423,EBI-1181405
PRKAA2	P54646	3	EBI-2549423,EBI-1383852
REEP6	Q96HR9	3	EBI-10212206,EBI-750345
RPL9P9	P32969	5	EBI-2549423,EBI-358122
SAP30L	Q9HAJ7	3	EBI-2549423,EBI-2340040
SFR1	Q86XK3	3	EBI-10212206,EBI-1104535
SH2D4A	Q9H788	5	EBI-2549423,EBI-747035
SNRPB2	P08579	3	EBI-2549423,EBI-1053651
TCEANC	Q8N8B7	3	EBI-2549423,EBI-954696
UBA6	A0AVT1	3	EBI-2549423,EBI-5282516
UBE2Z	Q9H832	3	EBI-2549423,EBI-720977
VPS72	Q15906	3	EBI-2549423,EBI-399189
XRCC6	P12956	2	EBI-2549423,EBI-353208
ZBTB24	O43167	3	EBI-2549423,EBI-744471
ZMAT2	Q96NC0	3	EBI-2549423,EBI-2682299
ZNF337	Q9Y3M9	3	EBI-2549423,EBI-714987
ZNF417	Q8TAU3	5	EBI-2549423,EBI-740727
ZNF581	Q9P0T4	5	EBI-2549423,EBI-745520
ZNF587	Q96SQ5	3	EBI-2549423,EBI-6427977
ZNF688	A0A0S2Z5X4	3	EBI-2549423,EBI-16429014

GO - Molecular functionⁱ

identical protein binding
Source: IntAct
Inferred from physical interactionⁱ
- 25416956

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridⁱ	122750, 62 interactors
IntActⁱ	Q6NT76, 114 interactors
Molecular INTeraction database More...MINTⁱ	Q6NT76
STRINGⁱ	9606.ENSP00000287701

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Feature key	Position(s)	DescriptionActions	Length
Helixⁱ	276 – 286	Combined sources	11
Helixⁱ	294 – 308	Combined sources	15
Turnⁱ	317 – 319	Combined sources	3
Helixⁱ	323 – 343	Combined sources	21

Show more details

3D structure databases

ProteinModelPortalⁱ	Q6NT76
SMRⁱ	Q6NT76
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Miscellaneous databases

EvolutionaryTraceⁱ	Q6NT76

EvolutionaryTraceⁱ

Q6NT76

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

eggNOGⁱ	ENOG410IIRR Eukaryota ENOG4111F86 LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00920000149039
HOVERGENⁱ	HBG061176
InParanoidⁱ	Q6NT76
OMAⁱ	XAAILES
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0DOI
PhylomeDBⁱ	Q6NT76
TreeFamⁱ	TF320327

Family and domain databases

Conserved Domains Database More...CDDⁱ	cd00086 homeodomain, 1 hit cd00093 HTH_XRE, 1 hit
InterProⁱ	View 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
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF04814 HNF-1_N, 1 hit PF00046 Homeobox, 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 PS50071 HOMEOBOX_2, 1 hit

Sequences (5+)ⁱ

Sequence statusⁱ: Complete.

This entry describes 5 isoformsⁱ produced by alternative splicing. Align Add to basket

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

Isoform 1 (identifier: Q6NT76-1) [UniParc]FASTA Add 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]FASTA Add to basket

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

« 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 ANIAAILESH 
       360        370        380        390        400
GIDVQSPGGH SNSDDVDGND YSEQDTWQVR NGEEEEGRSS EGGREAEKVE 

EERRI

Show »

Length:405

Mass (Da):45,981

Checksum:ⁱ880A0A8CB7FD20CC

GO

Isoform 3 (identifier: Q6NT76-3) [UniParc]FASTA Add to basket

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

« 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 ANIAILESHG 
       360        370        380        390        400
IDVQSPGGHS NSDDVDGNDY SEQDDSTSHS DHQDPISLAV EMAAVNHTIL 
       410 
ALARQGANEI KTEALDDD

Show »

Length:418

Mass (Da):47,078

Checksum:ⁱC4AD3336D2DDE2A5

GO

Isoform 4 (identifier: Q6NT76-4) [UniParc]FASTA Add 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.

« 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 VMERNTWSPE RRMEENKWKL 

LSAG

Show »

Length:304

Mass (Da):34,629

Checksum:ⁱ0EC7468AFDEC2062

GO

Isoform 5 (identifier: Q6NT76-5) [UniParc]FASTA Add to basket

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

« 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 ANIAAILESH 
       360        370        380        390        400
GIDVQSPGGH SNSDDVDGND YSEQDTWQVR NGEEEEGRSS EGGREAEKDD 
       410        420        430        440 
STSHSDHQDP ISLAVEMAAV NHTILALARQ GANEIKTEAL DDD

Show »

Length:443

Mass (Da):49,867

Checksum:ⁱ55213CEAF72622C7

GO

Computationally mapped potential isoform sequencesⁱ

There are 5 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation

H0YKJ1	H0YKJ1_HUMAN	Homeobox-containing protein 1 Homeobox-containing protein 1	HMBOX1	396	Annotation score:
E5RGZ2	E5RGZ2_HUMAN	Homeobox-containing protein 1 Homeobox-containing protein 1	HMBOX1	386	Annotation score:
H0YLF2	H0YLF2_HUMAN	Homeobox-containing protein 1 Homeobox-containing protein 1	HMBOX1	364	Annotation score:
E5RHH9	E5RHH9_HUMAN	Homeobox-containing protein 1 Homeobox-containing protein 1	HMBOX1	118	Annotation score:
H0YBM8	H0YBM8_HUMAN	Homeobox-containing protein 1 Homeobox-containing protein 1	HMBOX1	45	Annotation score:

Sequence cautionⁱ

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

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	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

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
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]
UniGeneⁱ	Hs.563560 Hs.591836 Hs.598881

Genome annotation databases

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]
GeneIDⁱ	79618
KEGGⁱ	hsa:79618
UCSC genome browser More...UCSCⁱ	uc003xhd.5 human [Q6NT76-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q6NT76	Homeobox-containing protein 1		MACMU		420	UniRef100_Q6NT76
Homeobox containing 1		CALJA		420
HMBOX1 isoform 3		PANTR		420
homeobox-containing protein 1 isoform X2		ERIEU		420
homeobox-containing protein 1 isoform X2		LEPWE		420
+13
Q6NT76-2	HMBOX1 isoform 11		PANTR		405	UniRef100_A0A2I3S7D5
Homeobox containing 1		SAIBB		405
Uncharacterized protein		CERAT		405
Uncharacterized protein		PANPA		405
Homeobox containing 1		GORGO		405
+2
Q6NT76-3	HMBOX1 isoform 9		PANTR		406	UniRef100_A0A2J8N8D5
Homeobox containing 1		SAIBB		418
homeobox-containing protein 1 isoform X4		ERIEU		418
homeobox-containing protein 1 isoform X5		Enhydra lutris kenyoni		418
homeobox-containing protein 1 isoform X5		NEOSC		418
+2
Q6NT76-4	HMBOX1 isoform 5		PANTR		304	UniRef100_A0A2J8N8C8
Q6NT76-5	Homeobox-containing protein 1		MACMU		443	UniRef100_G7N0T3
Homeobox containing 1		SAIBB		443
Uncharacterized protein		COLAP		443
Uncharacterized protein		MUSPF		443
homeobox-containing protein 1 isoform X2		ODORO		443
+9

Protein	Similar proteins		Species	Score	Length	Source
Q6NT76	Homeobox-containing protein 1		MACMU		420	UniRef90_Q6NT76
Homeobox containing 1		CALJA		420
HMBOX1 isoform 3		PANTR		420
homeobox-containing protein 1 isoform X2		ERIEU		420
homeobox-containing protein 1 isoform X2		LEPWE		420
+275
Q6NT76-4	Homeobox-containing protein 1 (Fragment)		ANTCR		308	UniRef90_A0A094L3L2
HMBOX1 isoform 5		PANTR		304
UPI0007780B21		COTJA		380
UPI000528735D		ANTCR		306
Q6NT76-5	Homeobox containing 1		AILME		444	UniRef90_G1MC46
Uncharacterized protein		FICAL		455
FLJ21616 (Fragment)		LAGLA		45
Homeobox-containing protein 1 isoform C		ALLMI		455
Uncharacterized protein		PELSI		454
+271

Protein	Similar proteins		Species	Score	Length	Source
Q6NT76	Homeobox-containing protein 1		MOUSE		419	UniRef50_Q6NT76
Homeobox-containing protein 1		MACMU		420
Homeobox containing 1		CALJA		420
HMBOX1 isoform 3		PANTR		420
homeobox-containing protein 1 isoform X2		ERIEU		420
+925
Q6NT76-4	Uncharacterized protein		PROCO		391	UniRef50_A0A2K6FGC2
Homeobox containing 1		ORYLA		373
Homeobox-containing protein 1 (Fragment)		CALMI		319
Putative homeobox-containing protein 1-like		SCOMX		397
Homeobox-containing protein 1 (Fragment)		ANTCR		308
+27

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
CCDSⁱ	CCDS6071.1 [Q6NT76-1] CCDS83273.1 [Q6NT76-5] CCDS83274.1 [Q6NT76-2]
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]
UniGeneⁱ	Hs.563560 Hs.591836 Hs.598881

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 entry	Method	Resolution (Å)	Chain	Positions	PDBsum
	2CUF	NMR	-	A	268-350	[»]
	4J19	X-ray	2.90	A/B	233-345	[»]
ProteinModelPortalⁱ	Q6NT76
SMRⁱ	Q6NT76
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	122750, 62 interactors
IntActⁱ	Q6NT76, 114 interactors
MINTⁱ	Q6NT76
STRINGⁱ	9606.ENSP00000287701

PTM databases

iPTMnetⁱ	Q6NT76
PhosphoSitePlusⁱ	Q6NT76

Polymorphism and mutation databases

BioMutaⁱ	HMBOX1
DMDMⁱ	74758116

Proteomic databases

EPDⁱ	Q6NT76
MaxQBⁱ	Q6NT76
PaxDbⁱ	Q6NT76
PeptideAtlasⁱ	Q6NT76
PRIDEⁱ	Q6NT76
ProteomicsDBⁱ	66662 66663 [Q6NT76-2] 66664 [Q6NT76-3] 66665 [Q6NT76-4] 66666 [Q6NT76-5]
TopDownProteomicsⁱ	Q6NT76-4 [Q6NT76-4]

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	79618
Structural Biology Knowledgebase	Search...

Genome annotation databases

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]
GeneIDⁱ	79618
KEGGⁱ	hsa:79618
UCSCⁱ	uc003xhd.5 human [Q6NT76-1]

Organism-specific databases

CTDⁱ	79618
DisGeNETⁱ	79618
EuPathDBⁱ	HostDB:ENSG00000147421.17
GeneCardsⁱ	HMBOX1
HGNCⁱ	HGNC:26137 HMBOX1
HPAⁱ	CAB070418 HPA055855 HPA058586
neXtProtⁱ	NX_Q6NT76
OpenTargetsⁱ	ENSG00000147421
PharmGKBⁱ	PA143485490
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	ENOG410IIRR Eukaryota ENOG4111F86 LUCA
GeneTreeⁱ	ENSGT00920000149039
HOVERGENⁱ	HBG061176
InParanoidⁱ	Q6NT76
OMAⁱ	XAAILES
OrthoDBⁱ	EOG091G0DOI
PhylomeDBⁱ	Q6NT76
TreeFamⁱ	TF320327

Miscellaneous databases

ChiTaRSⁱ	HMBOX1 human
EvolutionaryTraceⁱ	Q6NT76
GenomeRNAiⁱ	79618
Protein Ontology More...PROⁱ	PR:Q6NT76

Gene expression databases

Bgeeⁱ	ENSG00000147421 Expressed in 225 organ(s), highest expression level in heart
CleanExⁱ	HS_HMBOX1
ExpressionAtlasⁱ	Q6NT76 baseline and differential
Genevisibleⁱ	Q6NT76 HS

Family and domain databases

CDDⁱ	cd00086 homeodomain, 1 hit cd00093 HTH_XRE, 1 hit
InterProⁱ	View 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
Pfamⁱ	View protein in Pfam PF04814 HNF-1_N, 1 hit PF00046 Homeobox, 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 PS50071 HOMEOBOX_2, 1 hit
ProtoNetⁱ	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:	October 10, 2018
	This is version 144 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, Complete proteome, Reference proteome

Documents

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

UniProtKB

UniParc

Help

UniRef

Proteomes

Annotation systems

Supporting data

UniProtKB - Q6NT76 (HMBX1_HUMAN)

Your basket is currently empty. i <p>When browsing through different UniProt proteins, you can use the ‘basket’ to save them, so that you can back to find or analyse them later.<p><a href='/help/basket' target='_top'>More...</a></p>

Homeobox-containing protein 1

Select a section on the left to see content.

<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

Caution

Sites

Regions

<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

GO - Biological processi

<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

Organism-specific databases

<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

Nucleus

Other locations

Nucleus

Other locations

Cytosol

Nucleus

Other locations

Keywords - Cellular componenti

<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

Organism-specific databases

Polymorphism and mutation databases

<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

Amino acid modifications

Keywords - PTMi

Proteomic databases

PTM databases

<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

Gene expression databases

Organism-specific databases

<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

GO - Molecular functioni

Protein-protein interaction databases

<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

3D structure databases

Miscellaneous databases

<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

Keywords - Domaini

Phylogenomic databases

Family and domain databases

<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

Experimental Info

Alternative sequence

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<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

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<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 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

Documents

UniProt is an ELIXIR core data resource

Your basket is currently empty. ⁱ

Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Keywords - Domainⁱ

Sequence cautionⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ