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Q6NT76

- HMBX1_HUMAN

UniProt

Q6NT76 - HMBX1_HUMAN

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Protein

Homeobox-containing protein 1

Gene

HMBOX1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 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)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi267 – 34175HomeoboxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. DNA binding Source: UniProtKB-KW

GO - Biological processi

  1. negative regulation of transcription, DNA-templated Source: UniProtKB
  2. positive regulation of transcription, DNA-templated Source: InterPro
  3. transcription, DNA-templated Source: UniProtKB-KW
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
ProteomesiUP000005640: Chromosome 8

Organism-specific databases

HGNCiHGNC:26137. HMBOX1.

Subcellular locationi

Nucleus. Cytoplasm
Note: Predominantly detected in cytoplasm.

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB
  2. nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA143485490.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 420420Homeobox-containing protein 1PRO_0000233287Add
BLAST

Proteomic databases

MaxQBiQ6NT76.
PaxDbiQ6NT76.
PRIDEiQ6NT76.

PTM databases

PhosphoSiteiQ6NT76.

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

BgeeiQ6NT76.
CleanExiHS_HMBOX1.
ExpressionAtlasiQ6NT76. baseline and differential.
GenevestigatoriQ6NT76.

Organism-specific databases

HPAiHPA055855.
HPA058586.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
DKC1O608322EBI-2549423,EBI-713091
XRCC6P129562EBI-2549423,EBI-353208

Protein-protein interaction databases

BioGridi122750. 5 interactions.
IntActiQ6NT76. 12 interactions.
STRINGi9606.ENSP00000287701.

Structurei

Secondary structure

1
420
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi276 – 28611Combined sources
Helixi294 – 30815Combined sources
Turni317 – 3193Combined sources
Helixi323 – 34321Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2CUFNMR-A268-350[»]
4J19X-ray2.90A/B233-345[»]
ProteinModelPortaliQ6NT76.
SMRiQ6NT76. Positions 269-345.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ6NT76.

Family & Domainsi

Sequence similaritiesi

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

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiNOG85561.
GeneTreeiENSGT00730000111011.
HOVERGENiHBG061176.
InParanoidiQ6NT76.
OMAiSYDTSPP.
OrthoDBiEOG7BGHMM.
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. Align

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 BAB15099.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti167 – 1671R → G in AAZ81565. 1 PublicationCurated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei284 – 30421SYFNE…IANAC → RNTWSPERRMEENKWKLLSA G in isoform 4. 1 PublicationVSP_038983Add
BLAST
Alternative sequencei305 – 420116Missing in isoform 4. 1 PublicationVSP_038984Add
BLAST
Alternative sequencei344 – 3452Missing in isoform 3. 1 PublicationVSP_018111
Alternative sequencei344 – 3441Missing in isoform 2 and isoform 5. 2 PublicationsVSP_018112
Alternative sequencei375 – 3751Q → QDTWQVRNGEEEEGRSSEGG REAEK in isoform 5. 1 PublicationVSP_038985
Alternative sequencei377 – 42044DSTSH…ALDDD → TWQVRNGEEEEGRSSEGGRE AEKVEEERRI in isoform 2. 1 PublicationVSP_018113Add
BLAST

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]
RefSeqiNP_001129198.1. NM_001135726.1. [Q6NT76-1]
NP_078843.2. NM_024567.3. [Q6NT76-1]
XP_005273692.1. XM_005273635.1. [Q6NT76-5]
XP_005273695.1. XM_005273638.1. [Q6NT76-3]
XP_005273697.1. XM_005273640.1. [Q6NT76-2]
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.4. human. [Q6NT76-1]
uc003xhg.3. human. [Q6NT76-2]
uc011lay.2. human. [Q6NT76-5]

Polymorphism databases

DMDMi74758116.

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 .
CCDSi CCDS6071.1. [Q6NT76-1 ]
RefSeqi NP_001129198.1. NM_001135726.1. [Q6NT76-1 ]
NP_078843.2. NM_024567.3. [Q6NT76-1 ]
XP_005273692.1. XM_005273635.1. [Q6NT76-5 ]
XP_005273695.1. XM_005273638.1. [Q6NT76-3 ]
XP_005273697.1. XM_005273640.1. [Q6NT76-2 ]
UniGenei Hs.563560.
Hs.591836.
Hs.598881.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
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. Positions 269-345.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 122750. 5 interactions.
IntActi Q6NT76. 12 interactions.
STRINGi 9606.ENSP00000287701.

PTM databases

PhosphoSitei Q6NT76.

Polymorphism databases

DMDMi 74758116.

Proteomic databases

MaxQBi Q6NT76.
PaxDbi Q6NT76.
PRIDEi Q6NT76.

Protocols and materials databases

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.4. human. [Q6NT76-1 ]
uc003xhg.3. human. [Q6NT76-2 ]
uc011lay.2. human. [Q6NT76-5 ]

Organism-specific databases

CTDi 79618.
GeneCardsi GC08P028805.
HGNCi HGNC:26137. HMBOX1.
HPAi HPA055855.
HPA058586.
neXtProti NX_Q6NT76.
PharmGKBi PA143485490.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG85561.
GeneTreei ENSGT00730000111011.
HOVERGENi HBG061176.
InParanoidi Q6NT76.
OMAi SYDTSPP.
OrthoDBi EOG7BGHMM.
PhylomeDBi Q6NT76.
TreeFami TF320327.

Miscellaneous databases

ChiTaRSi HMBOX1. human.
EvolutionaryTracei Q6NT76.
GenomeRNAii 79618.
NextBioi 68685.
PROi Q6NT76.

Gene expression databases

Bgeei Q6NT76.
CleanExi HS_HMBOX1.
ExpressionAtlasi Q6NT76. baseline and differential.
Genevestigatori Q6NT76.

Family and domain databases

Gene3Di 1.10.10.60. 1 hit.
1.10.260.40. 1 hit.
InterProi IPR006899. HNF-1_N.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR010982. Lambda_DNA-bd_dom.
[Graphical view ]
Pfami PF04814. HNF-1_N. 1 hit.
PF00046. Homeobox. 1 hit.
[Graphical view ]
SMARTi SM00389. HOX. 1 hit.
[Graphical view ]
SUPFAMi SSF46689. SSF46689. 1 hit.
SSF47413. SSF47413. 1 hit.
PROSITEi PS50071. HOMEOBOX_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Isolation and functional analysis of human HMBOX1, a homeobox containing protein with transcriptional repressor activity."
    Chen S., Saiyin H., Zeng X., Xi J., Liu X., Li X., Yu L.
    Cytogenet. Genome Res. 114:131-136(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
    Tissue: Pancreas.
  2. "Characterization of a novel human HMBOX1 splicing variant lacking the homeodomain and with attenuated transcription repressor activity."
    Zhang M., Chen S., Li Q., Ling Y., Zhang J., Yu L.
    Mol. Biol. Rep. 37:2767-2772(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4), FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 5).
    Tissue: Caudate nucleus and Colon.
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
    Tissue: Brain and Ovary.
  6. Zhou G., Nong W., Li H., Ke R., Shen C., Zhong G., Zheng Z., Liang M., Tang Z., Wen S., Lin L., Yang S.
    Submitted (AUG-2005) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 97-420 (ISOFORM 3).
  7. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
    Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
    Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Leukemic T-cell.
  8. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  9. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
    Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
    Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  10. "Solution structure of the homeobox domain of the human hypothetical protein FLJ21616."
    RIKEN structural genomics initiative (RSGI)
    Submitted (NOV-2005) to the PDB data bank
    Cited for: STRUCTURE BY NMR OF 268-350.

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 26, 2014
This is version 103 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

External Data

Dasty 3