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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-Experimental evidence at protein leveli

Functioni

Transcription factor. Isoform 1 acts as a transcriptional repressor. Isoform 4 has very low activity as a transcriptional repressor.2 Publications

Regions

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

GO - Molecular functioni

  • double-stranded telomeric DNA binding Source: BHF-UCL
  • protein complex binding Source: BHF-UCL
  • telomeric DNA binding Source: BHF-UCL

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Repressor

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Homeobox-containing protein 1
Gene namesi
Name:HMBOX1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

HGNCiHGNC:26137. HMBOX1.

Subcellular locationi

  • Nucleus 1 Publication
  • Cytoplasm 1 Publication

  • Note: Predominantly detected in cytoplasm.1 Publication
Isoform 5 :
  • Nucleus 1 Publication
  • Cytoplasm 1 Publication

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • nuclear chromosome, telomeric region Source: BHF-UCL
  • nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

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
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-linki413Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)Combined sources
Cross-linki413Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

MaxQBiQ6NT76.
PaxDbiQ6NT76.
PeptideAtlasiQ6NT76.
PRIDEiQ6NT76.
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, and colon.2 Publications

Gene expression databases

BgeeiENSG00000147421.
CleanExiHS_HMBOX1.
ExpressionAtlasiQ6NT76. baseline and differential.
GenevisibleiQ6NT76. HS.

Organism-specific databases

HPAiHPA055855.
HPA058586.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
itself3EBI-2549423,EBI-2549423
AEBP2Q6ZN18-25EBI-2549423,EBI-10255023
ASB7Q9H6723EBI-2549423,EBI-3916346
ATP5OP480473EBI-2549423,EBI-355815
BYSLQ138957EBI-2549423,EBI-358049
C20orf195Q9BVV23EBI-2549423,EBI-744935
C8orf33Q9H7E95EBI-2549423,EBI-715389
CARD9Q9H2573EBI-2549423,EBI-751319
CBX8Q9HC525EBI-2549423,EBI-712912
CCNG1P519593EBI-2549423,EBI-3905829
DAB1O755533EBI-2549423,EBI-7875264
DKC1O608322EBI-2549423,EBI-713091
DYNLL2Q96FJ23EBI-2549423,EBI-742371
FAM13CQ8NE313EBI-2549423,EBI-751248
FAM161AQ3B8203EBI-2549423,EBI-719941
FAM206AQ9NX385EBI-2549423,EBI-9105722
FAM74A6Q5TZK33EBI-2549423,EBI-10247271
FARS2O953633EBI-2549423,EBI-2513774
FRMD6Q96NE93EBI-2549423,EBI-741729
FXR2P511163EBI-10212206,EBI-740459
KAT5Q929935EBI-2549423,EBI-399080
LNX1Q8TBB13EBI-2549423,EBI-739832
MAGEH1Q9H2133EBI-2549423,EBI-473834
MFAP1P550815EBI-2549423,EBI-1048159
MORF4L1Q9UBU83EBI-10212206,EBI-399246
MRPL11Q9Y3B73EBI-2549423,EBI-5453723
MRPL28Q130843EBI-2549423,EBI-723426
NPIPA7E9PJI53EBI-2549423,EBI-10177044
PIP4K2BP783565EBI-2549423,EBI-947090
PRKAA1Q131313EBI-2549423,EBI-1181405
PRKAA2P546463EBI-2549423,EBI-1383852
REEP6Q96HR93EBI-10212206,EBI-750345
RPL9P9P329693EBI-2549423,EBI-358122
SAP30LQ9HAJ73EBI-2549423,EBI-2340040
SFR1Q86XK33EBI-10212206,EBI-1104535
SH2D4AQ9H7885EBI-2549423,EBI-747035
SNRPB2P085793EBI-2549423,EBI-1053651
TCEANCQ8N8B73EBI-2549423,EBI-954696
UBA6A0AVT13EBI-2549423,EBI-5282516
UBE2ZQ9H8323EBI-2549423,EBI-720977
VPS72Q159063EBI-2549423,EBI-399189
XRCC6P129562EBI-2549423,EBI-353208
ZBTB24O431673EBI-2549423,EBI-744471
ZMAT2Q96NC03EBI-2549423,EBI-2682299
ZNF337Q9Y3M93EBI-2549423,EBI-714987
ZNF417Q8TAU35EBI-2549423,EBI-740727
ZNF581Q9P0T45EBI-2549423,EBI-745520
ZNF587Q96SQ53EBI-2549423,EBI-6427977

GO - Molecular functioni

  • protein complex binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi122750. 54 interactors.
IntActiQ6NT76. 95 interactors.
STRINGi9606.ENSP00000287701.

Structurei

Secondary structure

1420
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi276 – 286Combined sources11
Helixi294 – 308Combined sources15
Turni317 – 319Combined sources3
Helixi323 – 343Combined sources21

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...

Miscellaneous databases

EvolutionaryTraceiQ6NT76.

Family & Domainsi

Sequence similaritiesi

Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiENOG410IIRR. Eukaryota.
ENOG4111F86. LUCA.
GeneTreeiENSGT00860000133745.
HOVERGENiHBG061176.
InParanoidiQ6NT76.
OMAiXAAILES.
OrthoDBiEOG091G0DOI.
PhylomeDBiQ6NT76.
TreeFamiTF320327.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
1.10.260.40. 1 hit.
InterProiIPR006899. HNF-1_N.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR010982. Lambda_DNA-bd_dom.
[Graphical view]
PfamiPF04814. HNF-1_N. 1 hit.
PF00046. Homeobox. 1 hit.
[Graphical view]
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
SSF47413. SSF47413. 1 hit.
PROSITEiPS50071. HOMEOBOX_2. 1 hit.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

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

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

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.
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

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.
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. 54 interactors.
IntActiQ6NT76. 95 interactors.
STRINGi9606.ENSP00000287701.

PTM databases

iPTMnetiQ6NT76.
PhosphoSitePlusiQ6NT76.

Polymorphism and mutation databases

BioMutaiHMBOX1.
DMDMi74758116.

Proteomic databases

MaxQBiQ6NT76.
PaxDbiQ6NT76.
PeptideAtlasiQ6NT76.
PRIDEiQ6NT76.
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.
GeneCardsiHMBOX1.
HGNCiHGNC:26137. HMBOX1.
HPAiHPA055855.
HPA058586.
neXtProtiNX_Q6NT76.
OpenTargetsiENSG00000147421.
PharmGKBiPA143485490.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IIRR. Eukaryota.
ENOG4111F86. LUCA.
GeneTreeiENSGT00860000133745.
HOVERGENiHBG061176.
InParanoidiQ6NT76.
OMAiXAAILES.
OrthoDBiEOG091G0DOI.
PhylomeDBiQ6NT76.
TreeFamiTF320327.

Miscellaneous databases

ChiTaRSiHMBOX1. human.
EvolutionaryTraceiQ6NT76.
GenomeRNAii79618.
PROiQ6NT76.

Gene expression databases

BgeeiENSG00000147421.
CleanExiHS_HMBOX1.
ExpressionAtlasiQ6NT76. baseline and differential.
GenevisibleiQ6NT76. HS.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
1.10.260.40. 1 hit.
InterProiIPR006899. HNF-1_N.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR010982. Lambda_DNA-bd_dom.
[Graphical view]
PfamiPF04814. HNF-1_N. 1 hit.
PF00046. Homeobox. 1 hit.
[Graphical view]
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
SSF47413. SSF47413. 1 hit.
PROSITEiPS50071. HOMEOBOX_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiHMBX1_HUMAN
AccessioniPrimary (citable) accession number: Q6NT76
Secondary accession number(s): A4K385
, A8K3R8, B4DHY5, D3DSU0, Q3Y6P1, Q96GS5, Q9H701
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 2, 2006
Last sequence update: July 5, 2004
Last modified: November 30, 2016
This is version 126 of the entry and version 1 of the sequence. [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
  3. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.