P14653 (HXB1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

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)

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 Reference proteome
Gene Ontology (GO)
Biological process	transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	cytoplasm Inferred from direct assay. Source: HPA nucleus Non-traceable author statement. Source: UniProtKB
Molecular function	protein domain specific binding Inferred from physical interaction Ref.4. Source: UniProtKB sequence-specific DNA binding transcription factor activity Non-traceable author statement. Source: UniProtKB
Complete GO annotation...

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.
Corresponds to variant rs35254561 [ dbSNP | Ensembl ].

VAR_055959

Natural variant

103

1

Q → H.
Corresponds to variant rs12939811 [ dbSNP | Ensembl ].

VAR_055960

Natural variant

265

1

E → G. Ref.1 Ref.3
Corresponds to variant rs7226137 [ dbSNP | Ensembl ].

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 [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. NM_002144.3.

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	[»]

ProteinModelPortal

P14653.

SMR

P14653. Positions 177-264.

ModBase

Search...

Protein-protein interaction databases

DIP

DIP-6106N.

IntAct

P14653. 1 interaction.

STRING

P14653.

Polymorphism databases

DMDM

251757285.

Proteomic databases

PRIDE

P14653.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000239174; ENSP00000355140; ENSG00000120094.

GeneID

3211.

KEGG

hsa:3211.

UCSC

uc002ink.1. human.

Organism-specific databases

CTD

3211.

GeneCards

GC17M046606.

H-InvDB

HIX0039249.

HGNC

HGNC:5111. HOXB1.

HPA

HPA044576.

MIM

142968. gene.

neXtProt

NX_P14653.

PharmGKB

PA29387.

GenAtlas

Search...

Phylogenomic databases

eggNOG

prNOG15455.

HOGENOM

HBG717389.

HOVERGEN

HBG006089.

InParanoid

P14653.

OMA

YGPSQYY.

OrthoDB

EOG44F69X.

PhylomeDB

P14653.

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_eu.
IPR009057. Homeodomain-like.
IPR012287. Homeodomain-rel.
[Graphical view]

Gene3D

G3DSA:1.10.10.60. Homeodomain-rel. 1 hit.

KO

K09301.

Pfam

PF00046. Homeobox. 1 hit.
[Graphical view]

PRINTS

PR00024. HOMEOBOX.

SMART

SM00389. HOX. 1 hit.
[Graphical view]

SUPFAM

SSF46689. Homeodomain_like. 1 hit.

PROSITE

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

ProtoNet

Search...

Other

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:	January 25, 2012
This is version 126 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

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.