Reviewed, UniProtKB/Swiss-Prot P14653 (HXB1_HUMAN)

Names and origin

Protein names

Recommended name:
    Homeobox protein Hox-B1
Alternative name(s):
    Homeobox protein Hox-2I

Gene names

Name:	HOXB1
Synonyms:	HOX2I

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	301 AA.
Sequence status	Complete.
Protein existence	Evidence 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.
Sequence similarities	Belongs to the Antp homeobox family. Labial subfamily. Contains 1 homeobox DNA-binding domain.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Polymorphism
Domain	Homeobox
Ligand	DNA-binding
Molecular function	Developmental protein
Technical term	3D-structure Complete proteome
Gene Ontology (GO)
Biological process	transcription Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	nucleus Non-traceable author statement. Source: UniProtKB
Molecular function	protein domain specific binding Ref.4 Inferred from physical interaction. Source: UniProtKB transcription factor activity Non-traceable author statement. Source: UniProtKB
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
PBX1	P40424	1	EBI-301331,EBI-301611

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 301

301

Homeobox protein Hox-B1

PRO_0000200107

Regions

DNA binding

203 – 262

60

Homeobox

Motif

179 – 184

6

Antp-type hexapeptide

Natural variations

Natural variant

27

1

A → AHSA in allele HOXB1*B.

VAR_003817

Natural variant

71

1

T → N: dbSNP rs35254561.

VAR_055959

Natural variant

103

1

Q → H: dbSNP rs12939811.

VAR_055960

Natural variant

265

1

E → G: dbSNP rs7226137. Ref.1 Ref.3

VAR_058129

Secondary structure

1

.

.

.

.

.

.

.

.

.

301

Helix Strand Turn

Details...

Helix

181 – 184

4

Helix

212 – 222

11

Helix

230 – 240

11

Helix

244 – 262

19

Sequences

	Sequence		Length	Mass (Da)
	P14653-1 [UniParc]. Last modified July 7, 2009. Version 2. Checksum: 6752A8C28AC55D11	FASTA	301	32,193
	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

References

	« Hide 'large scale' referencesShow '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: 2574852] [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. , 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: 16625196] [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: 2576652] [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: 10052460] [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: 10671062] [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: 11091361] [Abstract] Cited for: VARIANT HOXB1*B HIS-SER-ALA-27 INS.
+	Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

X16666 mRNA. Translation: CAA34656.1.
AC103702 Genomic DNA. No translation available.

IPI

IPI00294724.

PIR

WJHU2I. S07541.

RefSeq

NP_002135.2.

UniGene

Hs.99992

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
1B72	X-ray	2.35	A	171-264	[»]

ModBase

Search...

Protein-protein interaction databases

DIP

DIP-6106N.

IntAct

P14653. 1 interaction.

STRING

P14653.

Proteomic databases

PRIDE

P14653.

Genome annotation databases

Ensembl

ENST00000239174; ENSP00000355140; ENSG00000120094; Homo sapiens. [Genome view]

GeneID

3211.

KEGG

hsa:3211.

UCSC

uc002ink.1. human.

Organism-specific databases

CTD

3211.

GeneCards

GC17M043961.

H-InvDB

HIX0039249.

HGNC

HGNC:5111. HOXB1.

MIM

142968. gene.

PharmGKB

PA29387.

GenAtlas

Search...

Phylogenomic databases

eggNOG

prNOG15455.

HOGENOM

HBG717389.

HOVERGEN

P14653.

InParanoid

P14653.

OMA

YGPSQYY.

OrthoDB

EOG9GB9RJ.

Gene expression databases

ArrayExpress

P14653.

Bgee

P14653.

CleanEx

HS_HOXB1.

Genevestigator

P14653.

GermOnline

ENSG00000120094. Homo sapiens.

Family and domain databases

InterPro

IPR001356. Homeobox.
IPR017970. Homeobox_CS.
IPR020479. Homeobox_region.
IPR009057. Homeodomain-like.
IPR012287. Homeodomain-rel.
[Graphical view]

Gene3D

G3DSA:1.10.10.60. Homeodomain-rel. 1 hit.

Pfam

PF00046. Homeobox. 1 hit.
[Graphical view]

PRINTS

PR00024. HOMEOBOX.

SMART

SM00389. HOX. 1 hit.
[Graphical view]

PROSITE

PS00032. ANTENNAPEDIA. False negative.
PS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]

ProtoNet

Search...

Other Resources

NextBio

12776.

SOURCE

Search...

Entry information

Entry name

HXB1_HUMAN

Accession

Primary (citable) accession number: P14653

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 1, 1990
Last sequence update:	July 7, 2009
Last modified:	February 9, 2010
This is version 109 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Disclaimer

Any 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.