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Q6NT76 (HMBX1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 97. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Homeobox-containing protein 1
Gene names
Name:HMBOX1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length420 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subcellular location

Nucleus. Cytoplasm. Note: Predominantly detected in cytoplasm. Ref.1 Ref.2

Tissue specificity

Ubiquitous. Detected in pancreas, brain, spleen, placenta, prostate, thymus, liver, heart, bone marrow, skeletal muscle, stomach, uterus, testis, kidney, ovary, and colon. Ref.1 Ref.2

Sequence similarities

Contains 1 homeobox DNA-binding domain.

Sequence caution

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

Binary interactions

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q6NT76-1)

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.
Isoform 2 (identifier: Q6NT76-2)

The sequence of this isoform differs from the canonical sequence as follows:
     344-344: Missing.
     377-420: DSTSHSDHQDPISLAVEMAAVNHTILALARQGANEIKTEALDDD → TWQVRNGEEEEGRSSEGGREAEKVEEERRI
Isoform 3 (identifier: Q6NT76-3)

The sequence of this isoform differs from the canonical sequence as follows:
     344-345: Missing.
Isoform 4 (identifier: Q6NT76-4)

Also known as: HMBOX1b;

The sequence of this isoform differs from the canonical sequence as follows:
     284-304: SYFNENQYPDEAKREEIANAC → RNTWSPERRMEENKWKLLSAG
     305-420: Missing.
Isoform 5 (identifier: Q6NT76-5)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 420420Homeobox-containing protein 1
PRO_0000233287

Regions

DNA binding267 – 34175Homeobox

Natural variations

Alternative sequence284 – 30421SYFNE…IANAC → RNTWSPERRMEENKWKLLSA G in isoform 4.
VSP_038983
Alternative sequence305 – 420116Missing in isoform 4.
VSP_038984
Alternative sequence344 – 3452Missing in isoform 3.
VSP_018111
Alternative sequence3441Missing in isoform 2 and isoform 5.
VSP_018112
Alternative sequence3751Q → QDTWQVRNGEEEEGRSSEGG REAEK in isoform 5.
VSP_038985
Alternative sequence377 – 42044DSTSH…ALDDD → TWQVRNGEEEEGRSSEGGRE AEKVEEERRI in isoform 2.
VSP_018113

Experimental info

Sequence conflict1671R → G in AAZ81565. Ref.6

Secondary structure

......... 420
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (HMBOX1A) [UniParc].

Last modified July 5, 2004. Version 1.
Checksum: BB47AB7DE3B96996

FASTA42047,278
        10         20         30         40         50         60 
MLSSFPVVLL ETMSHYTDEP RFTIEQIDLL QRLRRTGMTK HEILHALETL DRLDQEHSDK 

        70         80         90        100        110        120 
FGRRSSYGGS SYGNSTNNVP ASSSTATAST QTQHSGMSPS PSNSYDTSPQ PCTTNQNGRE 

       130        140        150        160        170        180 
NNERLSTSNG KMSPTRYHAN SMGQRSYSFE ASEEDLDVDD KVEELMRRDS SVIKEEIKAF 

       190        200        210        220        230        240 
LANRRISQAV VAQVTGISQS RISHWLLQQG SDLSEQKKRA FYRWYQLEKT NPGATLSMRP 

       250        260        270        280        290        300 
APIPIEDPEW RQTPPPVSAT SGTFRLRRGS RFTWRKECLA VMESYFNENQ YPDEAKREEI 

       310        320        330        340        350        360 
ANACNAVIQK PGKKLSDLER VTSLKVYNWF ANRRKEIKRR ANIEAAILES HGIDVQSPGG 

       370        380        390        400        410        420 
HSNSDDVDGN DYSEQDDSTS HSDHQDPISL AVEMAAVNHT ILALARQGAN EIKTEALDDD 

« Hide

Isoform 2 [UniParc].

Checksum: 880A0A8CB7FD20CC
Show »

FASTA40545,981
Isoform 3 [UniParc].

Checksum: C4AD3336D2DDE2A5
Show »

FASTA41847,078
Isoform 4 (HMBOX1b) [UniParc].

Checksum: 0EC7468AFDEC2062
Show »

FASTA30434,629
Isoform 5 [UniParc].

Checksum: 55213CEAF72622C7
Show »

FASTA44349,867

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001129198.1. NM_001135726.1.
NP_078843.2. NM_024567.3.
XP_005273692.1. XM_005273635.1.
XP_005273695.1. XM_005273638.1.
XP_005273697.1. XM_005273640.1.
UniGeneHs.563560.
Hs.591836.
Hs.598881.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
2CUFNMR-A268-343[»]
4J19X-ray2.90A/B233-345[»]
ProteinModelPortalQ6NT76.
SMRQ6NT76. Positions 151-345.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid122750. 4 interactions.
IntActQ6NT76. 11 interactions.
STRING9606.ENSP00000287701.

PTM databases

PhosphoSiteQ6NT76.

Polymorphism databases

DMDM74758116.

Proteomic databases

PaxDbQ6NT76.
PRIDEQ6NT76.

Protocols and materials databases

DNASU79618.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000287701; ENSP00000287701; ENSG00000147421. [Q6NT76-1]
ENST00000397358; ENSP00000380516; ENSG00000147421. [Q6NT76-1]
ENST00000403668; ENSP00000384261; ENSG00000147421. [Q6NT76-4]
ENST00000444075; ENSP00000401769; ENSG00000147421. [Q6NT76-5]
ENST00000521516; ENSP00000430238; ENSG00000147421. [Q6NT76-4]
ENST00000524238; ENSP00000430110; ENSG00000147421. [Q6NT76-5]
ENST00000558662; ENSP00000453211; ENSG00000147421. [Q6NT76-2]
GeneID79618.
KEGGhsa:79618.
UCSCuc003xhd.4. human. [Q6NT76-1]
uc003xhg.3. human. [Q6NT76-2]
uc011lay.2. human. [Q6NT76-5]

Organism-specific databases

CTD79618.
GeneCardsGC08P028805.
HGNCHGNC:26137. HMBOX1.
HPAHPA055855.
HPA058586.
neXtProtNX_Q6NT76.
PharmGKBPA143485490.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG85561.
HOVERGENHBG061176.
InParanoidQ6NT76.
OMANGRENSE.
OrthoDBEOG7BGHMM.
PhylomeDBQ6NT76.
TreeFamTF320327.

Gene expression databases

ArrayExpressQ6NT76.
BgeeQ6NT76.
CleanExHS_HMBOX1.
GenevestigatorQ6NT76.

Family and domain databases

Gene3D1.10.10.60. 1 hit.
1.10.260.40. 1 hit.
InterProIPR006899. HNF-1_N.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR010982. Lambda_DNA-bd_dom.
[Graphical view]
PfamPF04814. HNF-1_N. 1 hit.
PF00046. Homeobox. 1 hit.
[Graphical view]
SMARTSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMSSF46689. SSF46689. 1 hit.
SSF47413. SSF47413. 1 hit.
PROSITEPS50071. HOMEOBOX_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSHMBOX1. human.
EvolutionaryTraceQ6NT76.
GenomeRNAi79618.
NextBio68685.
PROQ6NT76.

Entry information

Entry nameHMBX1_HUMAN
AccessionPrimary (citable) accession number: Q6NT76
Secondary accession number(s): A4K385 expand/collapse secondary AC list , A8K3R8, B4DHY5, D3DSU0, Q3Y6P1, Q96GS5, Q9H701
Entry history
Integrated into UniProtKB/Swiss-Prot: May 2, 2006
Last sequence update: July 5, 2004
Last modified: March 19, 2014
This is version 97 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

Human chromosome 8

Human chromosome 8: entries, gene names and cross-references to MIM