Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

P55347 (PKNX1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 120. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Homeobox protein PKNOX1
Alternative name(s):
Homeobox protein PREP-1
PBX/knotted homeobox 1
Gene names
Name:PKNOX1
Synonyms:PREP1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length436 AA.
Sequence statusComplete.
Protein existenceEvidence 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.

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 436436Homeobox protein PKNOX1
PRO_0000049248

Regions

DNA binding259 – 32163Homeobox; TALE-type

Natural variations

Alternative sequence368 – 43669AVVTI…SDSLQ → TGGRPRPDMVDHGVGIMNKR PGSGLLAVSHRARPRMTS in isoform 2.
VSP_017260
Natural variant1261R → H.
Corresponds to variant rs9976017 [ dbSNP | Ensembl ].
VAR_049588
Natural variant2161T → A.
Corresponds to variant rs17115709 [ dbSNP | Ensembl ].
VAR_049589
Natural variant2651V → I in a colorectal cancer sample; somatic mutation. Ref.6
VAR_036440

Experimental info

Sequence conflict1531K → E in CAA73934. Ref.2
Sequence conflict3471P → A in AAC51243. Ref.1
Sequence conflict4301E → A in CAA73934. Ref.2

Secondary structure

........ 436
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified September 19, 2006. Version 3.
Checksum: 381E901F435AC5F2

FASTA43647,607
        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 

« Hide

Isoform 2 (PKNOX1B) [UniParc].

Checksum: 2413564513C5DE76
Show »

FASTA40544,629

References

« Hide '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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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. expand/collapse author list , 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] [Europe PMC] [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. expand/collapse author list , 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] [Europe PMC] [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.
CCDSCCDS13692.1. [P55347-1]
RefSeqNP_004562.2. NM_004571.4. [P55347-1]
UniGeneHs.431043.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
1X2NNMR-A260-319[»]
ProteinModelPortalP55347.
SMRP55347. Positions 258-319.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid111333. 8 interactions.
IntActP55347. 10 interactions.
MINTMINT-1532511.
STRING9606.ENSP00000291547.

PTM databases

PhosphoSiteP55347.

Polymorphism databases

DMDM115311619.

2D gel databases

SWISS-2DPAGEP55347.

Proteomic databases

MaxQBP55347.
PaxDbP55347.
PRIDEP55347.

Protocols and materials databases

DNASU5316.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000291547; ENSP00000291547; ENSG00000160199. [P55347-1]
GeneID5316.
KEGGhsa:5316.
UCSCuc002zcp.1. human. [P55347-2]
uc002zcq.1. human. [P55347-1]

Organism-specific databases

CTD5316.
GeneCardsGC21P044394.
HGNCHGNC:9022. PKNOX1.
HPACAB004285.
MIM602100. gene.
neXtProtNX_P55347.
PharmGKBPA33354.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG277861.
HOGENOMHOG000253922.
HOVERGENHBG055193.
InParanoidP55347.
OMACSEPDVE.
OrthoDBEOG71CFNK.
PhylomeDBP55347.
TreeFamTF318093.

Gene expression databases

ArrayExpressP55347.
BgeeP55347.
CleanExHS_PKNOX1.
GenevestigatorP55347.

Family and domain databases

Gene3D1.10.10.60. 1 hit.
InterProIPR001356. Homeobox_dom.
IPR008422. Homeobox_KN_domain.
IPR009057. Homeodomain-like.
[Graphical view]
PfamPF05920. Homeobox_KN. 1 hit.
[Graphical view]
SMARTSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMSSF46689. SSF46689. 1 hit.
PROSITEPS50071. HOMEOBOX_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

EvolutionaryTraceP55347.
GeneWikiPKNOX1.
GenomeRNAi5316.
NextBio20562.
PROP55347.
SOURCESearch...

Entry information

Entry namePKNX1_HUMAN
AccessionPrimary (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: July 9, 2014
This is version 120 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 21

Human chromosome 21: entries, gene names and cross-references to MIM