Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

P14653 (HXB1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 151. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (7) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Homeobox protein Hox-B1
Alternative name(s):
Homeobox protein Hox-2I
Gene names
Name:HOXB1
Synonyms:HOX2I
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length301 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Acts on the anterior body structures.

Subcellular location

Nucleus.

Polymorphism

The two common alleles; HOX1B*A and HOX1B*B have a frequency of 78.8% and 21.2% respectively.

Involvement in disease

Facial paresis, hereditary congenital, 3 (HCFP3) [MIM:614744]: A form of facial paresis, a disease characterized by isolated dysfunction of the facial nerve (CN VII). HCFP3 patients are affected by bilateral facial palsy, facial muscle weakness of muscles innervated by CN VII, hearing loss, and strabismus.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7

Sequence similarities

Belongs to the Antp homeobox family. Labial subfamily.

Contains 1 homeobox DNA-binding domain.

Ontologies

Keywords
   Biological processTranscription
Transcription regulation
   Cellular componentNucleus
   Coding sequence diversityPolymorphism
   DiseaseDisease mutation
   DomainHomeobox
   LigandDNA-binding
   Molecular functionDevelopmental protein
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processanatomical structure formation involved in morphogenesis

Inferred from electronic annotation. Source: Ensembl

anterior/posterior pattern specification

Inferred from electronic annotation. Source: Ensembl

embryonic skeletal system morphogenesis

Inferred from electronic annotation. Source: Ensembl

facial nerve structural organization

Inferred from electronic annotation. Source: Ensembl

facial nucleus development

Inferred from electronic annotation. Source: Ensembl

multicellular organismal development

Non-traceable author statement Ref.4. Source: UniProtKB

pattern specification process

Traceable author statement Ref.4. Source: UniProtKB

positive regulation of transcription from RNA polymerase II promoter

Inferred from electronic annotation. Source: Ensembl

regulation of transcription, DNA-templated

Traceable author statement Ref.4. Source: UniProtKB

rhombomere 4 development

Inferred from electronic annotation. Source: Ensembl

rhombomere 5 development

Inferred from electronic annotation. Source: Ensembl

transcription, DNA-templated

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentnucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionDNA binding

Inferred from direct assay Ref.4. Source: UniProtKB

protein domain specific binding

Inferred from physical interaction Ref.4. Source: UniProtKB

sequence-specific DNA binding

Inferred from electronic annotation. Source: Ensembl

sequence-specific DNA binding transcription factor activity

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 301301Homeobox protein Hox-B1
PRO_0000200107

Regions

DNA binding203 – 26260Homeobox
Motif179 – 1846Antp-type hexapeptide

Natural variations

Natural variant271A → AHSA in allele HOXB1*B.
VAR_003817
Natural variant711T → N.
Corresponds to variant rs35254561 [ dbSNP | Ensembl ].
VAR_055959
Natural variant1031Q → H.
Corresponds to variant rs12939811 [ dbSNP | Ensembl ].
VAR_055960
Natural variant2071R → C in HCFP3; decreased transactivation activity at low DNA concentrations; increased transactivation activity at high DNA concentrations compared to wild-type. Ref.7
VAR_068723
Natural variant2651E → G. Ref.1 Ref.3
Corresponds to variant rs7226137 [ dbSNP | Ensembl ].
VAR_058129

Secondary structure

......... 301
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
P14653 [UniParc].

Last modified July 7, 2009. Version 2.
Checksum: 6752A8C28AC55D11

FASTA30132,193
        10         20         30         40         50         60 
MDYNRMNSFL EYPLCNRGPS AYSAHSAPTS FPPSSAQAVD SYASEGRYGG GLSSPAFQQN 

        70         80         90        100        110        120 
SGYPAQQPPS TLGVPFPSSA PSGYAPAACS PSYGPSQYYP LGQSEGDGGY FHPSSYGAQL 

       130        140        150        160        170        180 
GGLSDGYGAG GAGPGPYPPQ HPPYGNEQTA SFAPAYADLL SEDKETPCPS EPNTPTARTF 

       190        200        210        220        230        240 
DWMKVKRNPP KTAKVSEPGL GSPSGLRTNF TTRQLTELEK EFHFNKYLSR ARRVEIAATL 

       250        260        270        280        290        300 
ELNETQVKIW FQNRRMKQKK REREEGRVPP APPGCPKEAA GDASDQSTCT SPEASPSSVT 


S 

« Hide

References

« Hide 'large scale' references
[1]"The human HOX gene family."
Acampora D., D'Esposito M., Faiella A., Pannese M., Migliaccio E., Morelli F., Stornaiuolo A., Nigro V., Simeone A., Boncinelli E.
Nucleic Acids Res. 17:10385-10402(1989) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT GLY-265.
[2]"DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L. expand/collapse author list , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"Organization of human class I homeobox genes."
Boncinelli E., Acampora D., Pannese M., D'Esposito M., Somma R., Gaudino G., Stornaiuolo A., Cafiero M., Faiella A., Simeone A.
Genome 31:745-756(1989) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 203-268, VARIANT GLY-265.
[4]"Structure of a HoxB1-Pbx1 heterodimer bound to DNA: role of the hexapeptide and a fourth homeodomain helix in complex formation."
Piper D.E., Batchelor A.H., Chang C.-P., Cleary M.L., Wolberger C.
Cell 96:587-597(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: X-RAY CRYSTALLOGRAPHY (2.35 ANGSTROMS) OF 170-266 IN COMPLEX WITH PBX1.
[5]"A genetic polymorphism in the human HOXB1 homeobox gene implying a 9bp tandem repeat in the amino-terminal coding region."
Faiella A., Zortea M., Barbaria E., Albani F., Capra V., Cama A., Boncinelli E.
Hum. Mutat. 12:363-363(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HOXB1*B HIS-SER-ALA-27 INS.
[6]"Discovery of allelic variants of HOXA1 and HOXB1: genetic susceptibility to autism spectrum disorders."
Ingram J.L., Stodgell C.J., Hyman S.L., Figlewicz D.A., Weitkamp L.R., Rodier P.M.
Teratology 62:393-405(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HOXB1*B HIS-SER-ALA-27 INS.
[7]"HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1(-/-) mice."
Webb B.D., Shaaban S., Gaspar H., Cunha L.F., Schubert C.R., Hao K., Robson C.D., Chan W.M., Andrews C., Mackinnon S., Oystreck D.T., Hunter D.G., Iacovelli A.J., Ye X., Camminady A., Engle E.C., Jabs E.W.
Am. J. Hum. Genet. 91:171-179(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HCFP3 CYS-207, CHARACTERIZATION OF VARIANT HCFP3 CYS-207.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
X16666 mRNA. Translation: CAA34656.1.
AC103702 Genomic DNA. No translation available.
CCDSCCDS32675.1.
PIRWJHU2I. S07541.
RefSeqNP_002135.2. NM_002144.3.
UniGeneHs.99992.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
1B72X-ray2.35A170-264[»]
ProteinModelPortalP14653.
SMRP14653. Positions 177-264.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid109451. 4 interactions.
DIPDIP-6106N.
IntActP14653. 1 interaction.
STRING9606.ENSP00000355140.

PTM databases

PhosphoSiteP14653.

Polymorphism databases

DMDM251757285.

Proteomic databases

PaxDbP14653.
PRIDEP14653.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000239174; ENSP00000355140; ENSG00000120094.
GeneID3211.
KEGGhsa:3211.
UCSCuc002ink.1. human.

Organism-specific databases

CTD3211.
GeneCardsGC17M046606.
HGNCHGNC:5111. HOXB1.
HPAHPA044576.
MIM142968. gene.
614744. phenotype.
neXtProtNX_P14653.
Orphanet306530. Congenital hereditary facial paralysis with variable hearing loss.
PharmGKBPA29387.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG236971.
HOGENOMHOG000247020.
HOVERGENHBG006089.
InParanoidP14653.
KOK09301.
OMAYAICNRG.
OrthoDBEOG7PK91P.
PhylomeDBP14653.
TreeFamTF317730.

Gene expression databases

ArrayExpressP14653.
BgeeP14653.
CleanExHS_HOXB1.
GenevestigatorP14653.

Family and domain databases

Gene3D1.10.10.60. 1 hit.
InterProIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
IPR009057. Homeodomain-like.
[Graphical view]
PfamPF00046. Homeobox. 1 hit.
[Graphical view]
PRINTSPR00024. HOMEOBOX.
SMARTSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMSSF46689. SSF46689. 1 hit.
PROSITEPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

EvolutionaryTraceP14653.
GeneWikiHOXB1.
GenomeRNAi3211.
NextBio12776.
PROP14653.
SOURCESearch...

Entry information

Entry nameHXB1_HUMAN
AccessionPrimary (citable) accession number: P14653
Entry history
Integrated into UniProtKB/Swiss-Prot: April 1, 1990
Last sequence update: July 7, 2009
Last modified: July 9, 2014
This is version 151 of the entry and version 2 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

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM

Vertebrate homeotic Hox proteins

Nomenclature of vertebrate homeotic Hox proteins and list of entries