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Protein

Homeobox protein Hox-B1

Gene

HOXB1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi203 – 262HomeoboxPROSITE-ProRule annotationAdd BLAST60

GO - Molecular functioni

GO - Biological processi

  • multicellular organism development Source: UniProtKB
  • pattern specification process Source: UniProtKB
  • positive regulation of transcription by RNA polymerase II Source: NTNU_SB
  • regulation of transcription, DNA-templated Source: UniProtKB

Keywordsi

Molecular functionDevelopmental protein, DNA-binding
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

ReactomeiR-HSA-5617472 Activation of anterior HOX genes in hindbrain development during early embryogenesis
SIGNORiP14653

Names & Taxonomyi

Protein namesi
Recommended name:
Homeobox protein Hox-B1
Alternative name(s):
Homeobox protein Hox-2I
Gene namesi
Name:HOXB1
Synonyms:HOX2I
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000120094.6
HGNCiHGNC:5111 HOXB1
MIMi142968 gene
neXtProtiNX_P14653

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Facial paresis, hereditary congenital, 3 (HCFP3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:614744
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_068723207R → C in HCFP3; decreased transactivation activity at low DNA concentrations; increased transactivation activity at high DNA concentrations compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs387907239EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi3211
MalaCardsiHOXB1
MIMi614744 phenotype
OpenTargetsiENSG00000120094
Orphaneti306530 Congenital hereditary facial paralysis with variable hearing loss
PharmGKBiPA29387

Polymorphism and mutation databases

BioMutaiHOXB1
DMDMi251757285

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002001071 – 301Homeobox protein Hox-B1Add BLAST301

Proteomic databases

PaxDbiP14653
PRIDEiP14653
ProteomicsDBi53072

PTM databases

iPTMnetiP14653
PhosphoSitePlusiP14653

Expressioni

Gene expression databases

BgeeiENSG00000120094
CleanExiHS_HOXB1
GenevisibleiP14653 HS

Organism-specific databases

HPAiHPA044576

Interactioni

GO - Molecular functioni

  • protein domain specific binding Source: UniProtKB

Protein-protein interaction databases

BioGridi109451, 5 interactors
DIPiDIP-6106N
ELMiP14653
IntActiP14653, 1 interactor
STRINGi9606.ENSP00000355140

Structurei

Secondary structure

1301
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi181 – 184Combined sources4
Helixi212 – 222Combined sources11
Helixi230 – 240Combined sources11
Helixi244 – 262Combined sources19

3D structure databases

ProteinModelPortaliP14653
SMRiP14653
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP14653

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi179 – 184Antp-type hexapeptide6

Sequence similaritiesi

Belongs to the Antp homeobox family. Labial subfamily.Curated

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG0489 Eukaryota
ENOG410ZTBY LUCA
GeneTreeiENSGT00910000144005
HOGENOMiHOG000247020
HOVERGENiHBG006089
InParanoidiP14653
KOiK09301
OMAiYAICNRG
OrthoDBiEOG091G0LR2
PhylomeDBiP14653
TreeFamiTF317730

Family and domain databases

CDDicd00086 homeodomain, 1 hit
InterProiView protein in InterPro
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
IPR020479 Homeobox_metazoa
PfamiView protein in Pfam
PF00046 Homeobox, 1 hit
PRINTSiPR00024 HOMEOBOX
SMARTiView protein in SMART
SM00389 HOX, 1 hit
SUPFAMiSSF46689 SSF46689, 1 hit
PROSITEiView protein in PROSITE
PS00027 HOMEOBOX_1, 1 hit
PS50071 HOMEOBOX_2, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P14653-1) [UniParc]FASTAAdd to basket

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
MDYNRMNSFL EYPLCNRGPS AYSAHSAPTS FPPSSAQAVD SYASEGRYGG
60 70 80 90 100
GLSSPAFQQN SGYPAQQPPS TLGVPFPSSA PSGYAPAACS PSYGPSQYYP
110 120 130 140 150
LGQSEGDGGY FHPSSYGAQL GGLSDGYGAG GAGPGPYPPQ HPPYGNEQTA
160 170 180 190 200
SFAPAYADLL SEDKETPCPS EPNTPTARTF DWMKVKRNPP KTAKVSEPGL
210 220 230 240 250
GSPSGLRTNF TTRQLTELEK EFHFNKYLSR ARRVEIAATL ELNETQVKIW
260 270 280 290 300
FQNRRMKQKK REREEGRVPP APPGCPKEAA GDASDQSTCT SPEASPSSVT

S
Length:301
Mass (Da):32,193
Last modified:July 7, 2009 - v2
Checksum:i6752A8C28AC55D11
GO
Isoform 2 (identifier: P14653-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     193-232: AKVSEPGLGS...HFNKYLSRAR → GRAQMWPPLL...FSFSGSGRHR
     233-301: Missing.

Note: No experimental confirmation available.
Show »
Length:232
Mass (Da):24,655
Checksum:i2EE972B985D307FA
GO

Polymorphismi

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00381727A → AHSA in allele HOXB1*B. 2 Publications1
Natural variantiVAR_05595971T → N. Corresponds to variant dbSNP:rs35254561Ensembl.1
Natural variantiVAR_055960103Q → H. Corresponds to variant dbSNP:rs12939811Ensembl.1
Natural variantiVAR_068723207R → C in HCFP3; decreased transactivation activity at low DNA concentrations; increased transactivation activity at high DNA concentrations compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs387907239EnsemblClinVar.1
Natural variantiVAR_058129265E → G2 PublicationsCorresponds to variant dbSNP:rs7226137Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_056813193 – 232AKVSE…LSRAR → GRAQMWPPLLRGPKHLCFPC SDMSWVWAGFFSFSGSGRHR in isoform 2. 1 PublicationAdd BLAST40
Alternative sequenceiVSP_056814233 – 301Missing in isoform 2. 1 PublicationAdd BLAST69

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X16666 mRNA Translation: CAA34656.1
AC103702 Genomic DNA No translation available.
BC096191 mRNA Translation: AAH96191.1
BC099633 mRNA Translation: AAH99633.1
CCDSiCCDS32675.1 [P14653-1]
PIRiS07541 WJHU2I
RefSeqiNP_002135.2, NM_002144.3 [P14653-1]
UniGeneiHs.99992

Genome annotation databases

EnsembliENST00000239174; ENSP00000355140; ENSG00000120094 [P14653-1]
ENST00000577092; ENSP00000459066; ENSG00000120094 [P14653-2]
ENST00000644632; ENSP00000494703; ENSG00000120094 [P14653-1]
GeneIDi3211
KEGGihsa:3211
UCSCiuc002ink.2 human [P14653-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiHXB1_HUMAN
AccessioniPrimary (citable) accession number: P14653
Secondary accession number(s): Q4VB03
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 1, 1990
Last sequence update: July 7, 2009
Last modified: June 20, 2018
This is version 186 of the entry and version 2 of the sequence. See 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. Vertebrate homeotic Hox proteins
    Nomenclature of vertebrate homeotic Hox proteins and list of entries
  2. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families
  8. UniProtKB entry view manual
    User manual for the UniProtKB entry view

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