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P14653

- HXB1_HUMAN

UniProt

P14653 - HXB1_HUMAN

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Protein

Homeobox protein Hox-B1

Gene

HOXB1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- 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)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi203 – 26260HomeoboxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. DNA binding Source: UniProtKB
  2. protein domain specific binding Source: UniProtKB
  3. sequence-specific DNA binding Source: Ensembl

GO - Biological processi

  1. anatomical structure formation involved in morphogenesis Source: Ensembl
  2. anterior/posterior pattern specification Source: Ensembl
  3. embryonic skeletal system morphogenesis Source: Ensembl
  4. facial nerve structural organization Source: Ensembl
  5. facial nucleus development Source: Ensembl
  6. multicellular organismal development Source: UniProtKB
  7. pattern specification process Source: UniProtKB
  8. positive regulation of transcription from RNA polymerase II promoter Source: Ensembl
  9. regulation of transcription, DNA-templated Source: UniProtKB
  10. rhombomere 4 development Source: Ensembl
  11. rhombomere 5 development Source: Ensembl
  12. transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

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
ProteomesiUP000005640: Chromosome 17

Organism-specific databases

HGNCiHGNC:5111. HOXB1.

Subcellular locationi

GO - Cellular componenti

  1. nucleus Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti207 – 2071R → C in HCFP3; decreased transactivation activity at low DNA concentrations; increased transactivation activity at high DNA concentrations compared to wild-type. 1 Publication
VAR_068723

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi614744. phenotype.
Orphaneti306530. Congenital hereditary facial paralysis with variable hearing loss.
PharmGKBiPA29387.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 301301Homeobox protein Hox-B1PRO_0000200107Add
BLAST

Proteomic databases

PaxDbiP14653.
PRIDEiP14653.

PTM databases

PhosphoSiteiP14653.

Expressioni

Gene expression databases

BgeeiP14653.
CleanExiHS_HOXB1.
ExpressionAtlasiP14653. differential.
GenevestigatoriP14653.

Organism-specific databases

HPAiHPA044576.

Interactioni

Protein-protein interaction databases

BioGridi109451. 4 interactions.
DIPiDIP-6106N.
IntActiP14653. 1 interaction.
STRINGi9606.ENSP00000355140.

Structurei

Secondary structure

1
301
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi181 – 1844
Helixi212 – 22211
Helixi230 – 24011
Helixi244 – 26219

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1B72X-ray2.35A170-264[»]
ProteinModelPortaliP14653.
SMRiP14653. Positions 177-264.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP14653.

Family & Domainsi

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi179 – 1846Antp-type hexapeptide

Sequence similaritiesi

Belongs to the Antp homeobox family. Labial subfamily.Curated
Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiNOG236971.
GeneTreeiENSGT00760000118940.
HOGENOMiHOG000247020.
HOVERGENiHBG006089.
InParanoidiP14653.
KOiK09301.
OMAiYAICNRG.
OrthoDBiEOG7PK91P.
PhylomeDBiP14653.
TreeFamiTF317730.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
IPR009057. Homeodomain-like.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
[Graphical view]
PRINTSiPR00024. HOMEOBOX.
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti27 – 271A → AHSA in allele HOXB1*B. 2 Publications
VAR_003817
Natural varianti71 – 711T → N.
Corresponds to variant rs35254561 [ dbSNP | Ensembl ].
VAR_055959
Natural varianti103 – 1031Q → H.
Corresponds to variant rs12939811 [ dbSNP | Ensembl ].
VAR_055960
Natural varianti207 – 2071R → C in HCFP3; decreased transactivation activity at low DNA concentrations; increased transactivation activity at high DNA concentrations compared to wild-type. 1 Publication
VAR_068723
Natural varianti265 – 2651E → G.2 Publications
Corresponds to variant rs7226137 [ dbSNP | Ensembl ].
VAR_058129

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei193 – 23240AKVSE…LSRAR → GRAQMWPPLLRGPKHLCFPC SDMSWVWAGFFSFSGSGRHR in isoform 2. 1 PublicationVSP_056813Add
BLAST
Alternative sequencei233 – 30169Missing in isoform 2. 1 PublicationVSP_056814Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
PIRiS07541. WJHU2I.
RefSeqiNP_002135.2. NM_002144.3.
UniGeneiHs.99992.

Genome annotation databases

EnsembliENST00000239174; ENSP00000355140; ENSG00000120094.
GeneIDi3211.
KEGGihsa:3211.
UCSCiuc002ink.1. human.

Polymorphism databases

DMDMi251757285.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
X16666 mRNA. Translation: CAA34656.1 .
AC103702 Genomic DNA. No translation available.
BC096191 mRNA. Translation: AAH96191.1 .
BC099633 mRNA. Translation: AAH99633.1 .
CCDSi CCDS32675.1.
PIRi S07541. WJHU2I.
RefSeqi NP_002135.2. NM_002144.3.
UniGenei Hs.99992.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
1B72 X-ray 2.35 A 170-264 [» ]
ProteinModelPortali P14653.
SMRi P14653. Positions 177-264.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 109451. 4 interactions.
DIPi DIP-6106N.
IntActi P14653. 1 interaction.
STRINGi 9606.ENSP00000355140.

PTM databases

PhosphoSitei P14653.

Polymorphism databases

DMDMi 251757285.

Proteomic databases

PaxDbi P14653.
PRIDEi P14653.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000239174 ; ENSP00000355140 ; ENSG00000120094 .
GeneIDi 3211.
KEGGi hsa:3211.
UCSCi uc002ink.1. human.

Organism-specific databases

CTDi 3211.
GeneCardsi GC17M046606.
HGNCi HGNC:5111. HOXB1.
HPAi HPA044576.
MIMi 142968. gene.
614744. phenotype.
neXtProti NX_P14653.
Orphaneti 306530. Congenital hereditary facial paralysis with variable hearing loss.
PharmGKBi PA29387.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG236971.
GeneTreei ENSGT00760000118940.
HOGENOMi HOG000247020.
HOVERGENi HBG006089.
InParanoidi P14653.
KOi K09301.
OMAi YAICNRG.
OrthoDBi EOG7PK91P.
PhylomeDBi P14653.
TreeFami TF317730.

Miscellaneous databases

EvolutionaryTracei P14653.
GeneWikii HOXB1.
GenomeRNAii 3211.
NextBioi 12776.
PROi P14653.
SOURCEi Search...

Gene expression databases

Bgeei P14653.
CleanExi HS_HOXB1.
ExpressionAtlasi P14653. differential.
Genevestigatori P14653.

Family and domain databases

Gene3Di 1.10.10.60. 1 hit.
InterProi IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
IPR009057. Homeodomain-like.
[Graphical view ]
Pfami PF00046. Homeobox. 1 hit.
[Graphical view ]
PRINTSi PR00024. HOMEOBOX.
SMARTi SM00389. HOX. 1 hit.
[Graphical view ]
SUPFAMi SSF46689. SSF46689. 1 hit.
PROSITEi PS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), 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.
    , 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. "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] (ISOFORM 2).
  4. "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.
  5. "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.
  6. "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.
  7. "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.
  8. Cited for: VARIANT HCFP3 CYS-207, CHARACTERIZATION OF VARIANT HCFP3 CYS-207.

Entry informationi

Entry nameiHXB1_HUMAN
AccessioniPrimary (citable) accession number: P14653
Secondary accession number(s): Q4VB03
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 1, 1990
Last sequence update: July 7, 2009
Last modified: October 29, 2014
This is version 153 of the entry and version 2 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. 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

External Data

Dasty 3