Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

P55347

- PKNX1_HUMAN

UniProt

P55347 - PKNX1_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein

Homeobox protein PKNOX1

Gene

PKNOX1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli

Functioni

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi259 – 32163Homeobox; TALE-typePROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity Source: Ensembl
  2. sequence-specific DNA binding Source: Ensembl
  3. sequence-specific DNA binding transcription factor activity Source: ProtInc

GO - Biological processi

  1. angiogenesis Source: Ensembl
  2. camera-type eye development Source: Ensembl
  3. erythrocyte differentiation Source: Ensembl
  4. positive regulation of transcription from RNA polymerase II promoter Source: Ensembl
  5. T cell differentiation Source: Ensembl
  6. transcription from RNA polymerase II promoter Source: ProtInc
Complete GO annotation...

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Homeobox protein PKNOX1
Alternative name(s):
Homeobox protein PREP-1
PBX/knotted homeobox 1
Gene namesi
Name:PKNOX1
Synonyms:PREP1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 21

Organism-specific databases

HGNCiHGNC:9022. PKNOX1.

Subcellular locationi

Nucleus Curated

GO - Cellular componenti

  1. cytoplasm Source: Ensembl
  2. nucleus Source: UniProtKB-KW
  3. transcription factor complex Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA33354.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 436436Homeobox protein PKNOX1PRO_0000049248Add
BLAST

Proteomic databases

MaxQBiP55347.
PaxDbiP55347.
PRIDEiP55347.

2D gel databases

SWISS-2DPAGEP55347.

PTM databases

PhosphoSiteiP55347.

Expressioni

Tissue specificityi

Ubiquitous. Isoform 2 is expressed in all examined tissues except in bone marrow.2 Publications

Gene expression databases

BgeeiP55347.
CleanExiHS_PKNOX1.
ExpressionAtlasiP55347. baseline and differential.
GenevestigatoriP55347.

Organism-specific databases

HPAiCAB004285.

Interactioni

Protein-protein interaction databases

BioGridi111333. 13 interactions.
IntActiP55347. 10 interactions.
MINTiMINT-1532511.
STRINGi9606.ENSP00000291547.

Structurei

Secondary structure

1
436
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi268 – 28013Combined sources
Turni281 – 2833Combined sources
Helixi289 – 29911Combined sources
Helixi303 – 31917Combined sources

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1X2NNMR-A260-319[»]
ProteinModelPortaliP55347.
SMRiP55347. Positions 258-319.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP55347.

Family & Domainsi

Sequence similaritiesi

Belongs to the TALE/MEIS homeobox family.Curated
Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiNOG277861.
HOGENOMiHOG000253922.
HOVERGENiHBG055193.
InParanoidiP55347.
OMAiCSEPDVE.
OrthoDBiEOG71CFNK.
PhylomeDBiP55347.
TreeFamiTF318093.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR001356. Homeobox_dom.
IPR008422. Homeobox_KN_domain.
IPR009057. Homeodomain-like.
[Graphical view]
PfamiPF05920. Homeobox_KN. 1 hit.
[Graphical view]
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS50071. HOMEOBOX_2. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: P55347) [UniParc]FASTAAdd to Basket

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.

« Hide

        10         20         30         40         50
MMATQTLSID SYQDGQQMQV VTELKTEQDP NCSEPDAEGV SPPPVESQTP
60 70 80 90 100
MDVDKQAIYR HPLFPLLALL FEKCEQSTQG SEGTTSASFD VDIENFVRKQ
110 120 130 140 150
EKEGKPFFCE DPETDNLMVK AIQVLRIHLL ELEKVNELCK DFCSRYIACL
160 170 180 190 200
KTKMNSETLL SGEPGSPYSP VQSQQIQSAI TGTISPQGIV VPASALQQGN
210 220 230 240 250
VAMATVAGGT VYQPVTVVTP QGQVVTQTLS PGTIRIQNSQ LQLQLNQDLS
260 270 280 290 300
ILHQDDGSSK NKRGVLPKHA TNVMRSWLFQ HIGHPYPTED EKKQIAAQTN
310 320 330 340 350
LTLLQVNNWF INARRRILQP MLDSSCSETP KTKKKTAQNR PVQRFWPDSI
360 370 380 390 400
ASGVAQPPPS ELTMSEGAVV TITTPVNMNV DSLQSLSSDG ATLAVQQVMM
410 420 430
AGQSEDESVD STEEDAGALA PAHISGLVLE NSDSLQ
Length:436
Mass (Da):47,607
Last modified:September 19, 2006 - v3
Checksum:i381E901F435AC5F2
GO
Isoform 2 (identifier: P55347-2) [UniParc]FASTAAdd to Basket

Also known as: PKNOX1B

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

Show »
Length:405
Mass (Da):44,629
Checksum:i2413564513C5DE76
GO

Sequence cautioni

The sequence AAC51243.1 differs from that shown. Reason: Erroneous initiation.
The sequence BAA95533.1 differs from that shown. Reason: Erroneous initiation.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti153 – 1531K → E in CAA73934. (PubMed:9479508)Curated
Sequence conflicti347 – 3471P → A in AAC51243. (PubMed:9143494)Curated
Sequence conflicti430 – 4301E → A in CAA73934. (PubMed:9479508)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti126 – 1261R → H.
Corresponds to variant rs9976017 [ dbSNP | Ensembl ].
VAR_049588
Natural varianti216 – 2161T → A.
Corresponds to variant rs17115709 [ dbSNP | Ensembl ].
VAR_049589
Natural varianti265 – 2651V → I in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_036440

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei368 – 43669AVVTI…SDSLQ → TGGRPRPDMVDHGVGIMNKR PGSGLLAVSHRARPRMTS in isoform 2. 1 PublicationVSP_017260Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS13692.1. [P55347-1]
RefSeqiNP_004562.2. NM_004571.4. [P55347-1]
UniGeneiHs.431043.

Genome annotation databases

EnsembliENST00000291547; ENSP00000291547; ENSG00000160199. [P55347-1]
GeneIDi5316.
KEGGihsa:5316.
UCSCiuc002zcp.1. human. [P55347-2]
uc002zcq.1. human. [P55347-1]

Polymorphism databases

DMDMi115311619.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSi CCDS13692.1. [P55347-1 ]
RefSeqi NP_004562.2. NM_004571.4. [P55347-1 ]
UniGenei Hs.431043.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
1X2N NMR - A 260-319 [» ]
ProteinModelPortali P55347.
SMRi P55347. Positions 258-319.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 111333. 13 interactions.
IntActi P55347. 10 interactions.
MINTi MINT-1532511.
STRINGi 9606.ENSP00000291547.

PTM databases

PhosphoSitei P55347.

Polymorphism databases

DMDMi 115311619.

2D gel databases

SWISS-2DPAGE P55347.

Proteomic databases

MaxQBi P55347.
PaxDbi P55347.
PRIDEi P55347.

Protocols and materials databases

DNASUi 5316.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000291547 ; ENSP00000291547 ; ENSG00000160199 . [P55347-1 ]
GeneIDi 5316.
KEGGi hsa:5316.
UCSCi uc002zcp.1. human. [P55347-2 ]
uc002zcq.1. human. [P55347-1 ]

Organism-specific databases

CTDi 5316.
GeneCardsi GC21P044394.
HGNCi HGNC:9022. PKNOX1.
HPAi CAB004285.
MIMi 602100. gene.
neXtProti NX_P55347.
PharmGKBi PA33354.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG277861.
HOGENOMi HOG000253922.
HOVERGENi HBG055193.
InParanoidi P55347.
OMAi CSEPDVE.
OrthoDBi EOG71CFNK.
PhylomeDBi P55347.
TreeFami TF318093.

Miscellaneous databases

EvolutionaryTracei P55347.
GeneWikii PKNOX1.
GenomeRNAii 5316.
NextBioi 20562.
PROi P55347.
SOURCEi Search...

Gene expression databases

Bgeei P55347.
CleanExi HS_PKNOX1.
ExpressionAtlasi P55347. baseline and differential.
Genevestigatori P55347.

Family and domain databases

Gene3Di 1.10.10.60. 1 hit.
InterProi IPR001356. Homeobox_dom.
IPR008422. Homeobox_KN_domain.
IPR009057. Homeodomain-like.
[Graphical view ]
Pfami PF05920. Homeobox_KN. 1 hit.
[Graphical view ]
SMARTi SM00389. HOX. 1 hit.
[Graphical view ]
SUPFAMi SSF46689. SSF46689. 1 hit.
PROSITEi PS50071. HOMEOBOX_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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. Cited for: VARIANT [LARGE SCALE ANALYSIS] ILE-265.

Entry informationi

Entry nameiPKNX1_HUMAN
AccessioniPrimary (citable) accession number: P55347
Secondary accession number(s): O00528, Q8IWT7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: September 19, 2006
Last modified: October 29, 2014
This is version 122 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 21
    Human chromosome 21: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3