Reviewed, UniProtKB/Swiss-Prot P55347 (PKNX1_HUMAN)

Names and origin

Protein names

Recommended name:
    Homeobox protein PKNOX1
Alternative name(s):
    PBX/knotted homeobox 1
    Homeobox protein PREP-1

Gene names

Name:	PKNOX1
Synonyms:	PREP1

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	436 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Subcellular location	NucleusProbable.
Tissue specificity	Ubiquitous. Isoform 2 is expressed in all examined tissues except in bone marrow.
Sequence similarities	Belongs to the TALE/MEIS homeobox family. Contains 1 homeobox DNA-binding domain.

Ontologies

Keywords
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Homeobox
Ligand	DNA-binding
Technical term	3D-structure
Gene Ontology (GO)
Molecular function	sequence-specific DNA binding Inferred from electronic annotation. Source: InterPro specific RNA polymerase II transcription factor activity Ref.2 Traceable author statement. Source: ProtInc
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: P55347-1)

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.

Isoform 2 (identifier: P55347-2)

Also known as: PKNOX1B;

The sequence of this isoform differs from the canonical sequence as follows:
     368-436: AVVTITTPVN...LVLENSDSLQ → TGGRPRPDMV...SHRARPRMTS

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 436

436

Homeobox protein PKNOX1

PRO_0000049248

Regions

DNA binding

259 – 321

63

Homeobox; TALE-type

Natural variations

Alternative sequence

368 – 436

69

AVVTI…SDSLQ → TGGRPRPDMVDHGVGIMNKR PGSGLLAVSHRARPRMTS in isoform 2.

VSP_017260

Natural variant

265

1

V → I in a colorectal cancer sample; somatic mutation.

VAR_036440

Experimental info

Sequence conflict

153

1

K → E in CAA73934. Ref.2

Sequence conflict

347

1

P → A in AAC51243. Ref.1

Sequence conflict

430

1

E → A in CAA73934. Ref.2

Secondary structure

1

.

.

.

.

.

.

436

Helix Strand Turn

Details...

Helix

268 – 280

13

Turn

281 – 283

3

Helix

289 – 299

11

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified September 19, 2006. Version 3. Checksum: 381E901F435AC5F2	FASTA	436	47,607
	10 20 30 40 50 60 MMATQTLSID SYQDGQQMQV VTELKTEQDP NCSEPDAEGV SPPPVESQTP MDVDKQAIYR 70 80 90 100 110 120 HPLFPLLALL FEKCEQSTQG SEGTTSASFD VDIENFVRKQ EKEGKPFFCE DPETDNLMVK 130 140 150 160 170 180 AIQVLRIHLL ELEKVNELCK DFCSRYIACL KTKMNSETLL SGEPGSPYSP VQSQQIQSAI 190 200 210 220 230 240 TGTISPQGIV VPASALQQGN VAMATVAGGT VYQPVTVVTP QGQVVTQTLS PGTIRIQNSQ 250 260 270 280 290 300 LQLQLNQDLS ILHQDDGSSK NKRGVLPKHA TNVMRSWLFQ HIGHPYPTED EKKQIAAQTN 310 320 330 340 350 360 LTLLQVNNWF INARRRILQP MLDSSCSETP KTKKKTAQNR PVQRFWPDSI ASGVAQPPPS 370 380 390 400 410 420 ELTMSEGAVV TITTPVNMNV DSLQSLSSDG ATLAVQQVMM AGQSEDESVD STEEDAGALA 430 PAHISGLVLE NSDSLQ
	Isoform 2 (PKNOX1B) [UniParc]. Checksum: 2413564513C5DE76		405	44,629
	10 20 30 40 50 60 MMATQTLSID SYQDGQQMQV VTELKTEQDP NCSEPDAEGV SPPPVESQTP MDVDKQAIYR 70 80 90 100 110 120 HPLFPLLALL FEKCEQSTQG SEGTTSASFD VDIENFVRKQ EKEGKPFFCE DPETDNLMVK 130 140 150 160 170 180 AIQVLRIHLL ELEKVNELCK DFCSRYIACL KTKMNSETLL SGEPGSPYSP VQSQQIQSAI 190 200 210 220 230 240 TGTISPQGIV VPASALQQGN VAMATVAGGT VYQPVTVVTP QGQVVTQTLS PGTIRIQNSQ 250 260 270 280 290 300 LQLQLNQDLS ILHQDDGSSK NKRGVLPKHA TNVMRSWLFQ HIGHPYPTED EKKQIAAQTN 310 320 330 340 350 360 LTLLQVNNWF INARRRILQP MLDSSCSETP KTKKKTAQNR PVQRFWPDSI ASGVAQPPPS 370 380 390 400 ELTMSEGTGG RPRPDMVDHG VGIMNKRPGS GLLAVSHRAR PRMTS

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Cloning of a novel homeobox-containing gene, PKNOX1, and mapping to human chromosome 21q22.3." Chen H., Rossier C., Nakamura Y., Lynn A., Chakravarti A., Antonarakis S.E. Genomics 41:193-200(1997) [PubMed: 9143494] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
[2]	"PKNOX1, a gene encoding PREP1, a new regulator of Pbx activity, maps on human chromosome 21q22.3 and murine chromosome 17B/C." Berthelsen J., Viggiano L., Schulz H., Ferretti E., Consalez G.G., Rocchi M., Blasi F. Genomics 47:323-324(1998) [PubMed: 9479508] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[3]	"Molecular cloning for an alternatively splicing cDNA of human PKNOX1 gene and it's expression analysis." Ni B., Li L.Y., Yin Z.C., Zou Y.H., Li H. Yi Chuan Xue Bao 31:19-25(2004) [PubMed: 15468914] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), TISSUE SPECIFICITY.
[4]	"The DNA sequence of human chromosome 21." Hattori M., Fujiyama A., Taylor T.D., Watanabe H., Yada T., Park H.-S., Toyoda A., Ishii K., Totoki Y., Choi D.-K., Groner Y., Soeda E., Ohki M., Takagi T., Sakaki Y., Taudien S., Blechschmidt K., Polley A. , Menzel U., Delabar J., Kumpf K., Lehmann R., Patterson D., Reichwald K., Rump A., Schillhabel M., Schudy A., Zimmermann W., Rosenthal A., Kudoh J., Shibuya K., Kawasaki K., Asakawa S., Shintani A., Sasaki T., Nagamine K., Mitsuyama S., Antonarakis S.E., Minoshima S., Shimizu N., Nordsiek G., Hornischer K., Brandt P., Scharfe M., Schoen O., Desario A., Reichelt J., Kauer G., Bloecker H., Ramser J., Beck A., Klages S., Hennig S., Riesselmann L., Dagand E., Wehrmeyer S., Borzym K., Gardiner K., Nizetic D., Francis F., Lehrach H., Reinhardt R., Yaspo M.-L. Nature 405:311-319(2000) [PubMed: 10830953] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"Solution structure of the homeobox domain of human homeobox protein PKNOX1." RIKEN structural genomics initiative (RSGI) Submitted (OCT-2005) to the PDB data bank Cited for: STRUCTURE BY NMR OF 258-319.
[6]	"The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E. Science 314:268-274(2006) [PubMed: 16959974] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] ILE-265.
+	Additional computationally mapped references.

Cross-references

Sequence databases

EMBLGenBankDDBJ

U68727 mRNA. Translation: AAC51243.1. Different initiation.
Y13613 mRNA. Translation: CAA73934.1.
AY142115 mRNA. Translation: AAN34940.1.
AP001748 Genomic DNA. Translation: BAA95533.1. Different initiation.

RefSeq

NP_004562.2.

UniGene

Hs.431043

3D structure databases

PDBMSD

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
1X2N	NMR	-	A	258-319	[»]

ModBase

Search...

2-D gel databases

SWISS-2DPAGE

P55347.

Genome annotation databases

Ensembl

ENSG00000160199. Homo sapiens. [Contig view]

GeneID

5316.

KEGG

hsa:5316.

Organism-specific databases

HGNC

HGNC:9022. PKNOX1.

HPA

CAB004285.

MIM

602100. gene.

PharmGKB

PA33354.

GenAtlas

Search...

GeneCards

Search...

Phylogenomic databases

HOGENOM

P55347.

HOVERGEN

P55347.

Gene expression databases

ArrayExpress

P55347.

CleanEx

HS_PKNOX1.

GermOnline

ENSG00000160199. Homo sapiens.

Family and domain databases

InterPro

IPR001356. Homeobox.
IPR012287. Homeodomain-rel.
[Graphical view]

Gene3D

G3DSA:1.10.10.60. Homeodomain-rel. 1 hit.

Pfam

PF00046. Homeobox. 1 hit.
[Graphical view]

ProDom

PD000010. Homeobox. 1 hit.
[Graphical view] [Entries sharing at least one domain]

SMART

SM00389. HOX. 1 hit.
[Graphical view]

PROSITE

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

ProtoNet

Search...

Other Resources

NextBio

20562.

SOURCE

Search...

Entry information

Entry name

PKNX1_HUMAN

Accession

Primary (citable) accession number: P55347
Secondary accession number(s): O00528, Q8IWT7

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1997
Last sequence update:	September 19, 2006
Last modified:	November 25, 2008
This is version 71 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)