P55347 (PKNX1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Homeobox protein PKNOX1

Alternative name(s):
Homeobox protein PREP-1
PBX/knotted homeobox 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.
Protein existence	Evidence at protein level

General annotation (Comments)

Subcellular location	Nucleus Probable.
Tissue specificity	Ubiquitous. Isoform 2 is expressed in all examined tissues except in bone marrow. Ref.1 Ref.3
Sequence similarities	Belongs to the TALE/MEIS homeobox family. Contains 1 homeobox DNA-binding domain.
Sequence caution	The sequence AAC51243.1 differs from that shown. Reason: Erroneous initiation. The sequence BAA95533.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Homeobox
Ligand	DNA-binding
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Molecular function	sequence-specific DNA binding Inferred from electronic annotation. Source: InterPro
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

126

1

R → H.
Corresponds to variant rs9976017 [ dbSNP | Ensembl ].

VAR_049588

Natural variant

216

1

T → A.
Corresponds to variant rs17115709 [ dbSNP | Ensembl ].

VAR_049589

Natural variant

265

1

V → I in a colorectal cancer sample; somatic mutation. Ref.6

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	FASTA	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

EMBL
GenBank
DDBJ

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.

IPI

IPI00217382.
IPI00220929.

RefSeq

NP_004562.2. NM_004571.3.

UniGene

Hs.431043.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
1X2N	NMR	-	A	260-318	[»]

ProteinModelPortal

P55347.

SMR

P55347. Positions 258-319.

ModBase

Search...

Protein-protein interaction databases

IntAct

P55347. 5 interactions.

MINT

MINT-1532511.

STRING

P55347.

PTM databases

PhosphoSite

P55347.

Polymorphism databases

DMDM

115311619.

2D gel databases

SWISS-2DPAGE

P55347.

Proteomic databases

PRIDE

P55347.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000291547; ENSP00000291547; ENSG00000160199.

GeneID

5316.

KEGG

hsa:5316.

UCSC

uc002zcq.1. human.

Organism-specific databases

CTD

5316.

GeneCards

GC21P044394.

HGNC

HGNC:9022. PKNOX1.

HPA

CAB004285.

MIM

602100. gene.

neXtProt

NX_P55347.

PharmGKB

PA33354.

GenAtlas

Search...

Phylogenomic databases

eggNOG

prNOG10863.

HOGENOM

HBG445075.

HOVERGEN

HBG055193.

InParanoid

P55347.

OMA

PPSELAM.

OrthoDB

EOG4GMTXF.

PhylomeDB

P55347.

Gene expression databases

ArrayExpress

P55347.

Bgee

P55347.

CleanEx

HS_PKNOX1.

Genevestigator

P55347.

GermOnline

ENSG00000160199. Homo sapiens.

Family and domain databases

InterPro

IPR001356. Homeobox.
IPR008422. Homeobox_KN_domain.
IPR009057. Homeodomain-like.
IPR012287. Homeodomain-rel.
[Graphical view]

Gene3D

G3DSA:1.10.10.60. Homeodomain-rel. 1 hit.

Pfam

PF05920. Homeobox_KN. 1 hit.
[Graphical view]

SMART

SM00389. HOX. 1 hit.
[Graphical view]

SUPFAM

SSF46689. Homeodomain_like. 1 hit.

PROSITE

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

ProtoNet

Search...

Other

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:	January 25, 2012
This is version 100 of the entry and version 3 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.