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PKNOX1 (PBX/knotted 1 homeobox 1)

Identity

Alias (NCBI)PREP1
pkonx1c
HGNC (Hugo) PKNOX1
HGNC Alias symbPREP1
LocusID (NCBI) 5316
Atlas_Id 46241
Location 21q22.3  [Link to chromosome band 21q22]
Location_base_pair Starts at 42974562 and ends at 43033931 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
AK097625 () / PKNOX1 (21q22.3)CIRBP-AS1 (19p13.3) / PKNOX1 (21q22.3)COLEC10 (8q24.12) / PKNOX1 (21q22.3)
HECTD1 (14q12) / PKNOX1 (21q22.3)PAPSS1 (4q25) / PKNOX1 (21q22.3)PKNOX1 (21q22.3) / GPM6B (Xp22.2)
PKNOX1 (21q22.3) / H2BFM (Xq22.2)PKNOX1 (21q22.3) / PKNOX1 (21q22.3)PKNOX1 21q22.3 / H2BFM Xq22.2

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)PKNOX1   9022
Cards
Entrez_Gene (NCBI)PKNOX1    PBX/knotted 1 homeobox 1
AliasesPREP1; pkonx1c
GeneCards (Weizmann)PKNOX1
Ensembl hg19 (Hinxton)ENSG00000160199 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000160199 [Gene_View]  ENSG00000160199 [Sequence]  chr21:42974562-43033931 [Contig_View]  PKNOX1 [Vega]
ICGC DataPortalENSG00000160199
TCGA cBioPortalPKNOX1
AceView (NCBI)PKNOX1
Genatlas (Paris)PKNOX1
SOURCE (Princeton)PKNOX1
Genetics Home Reference (NIH)PKNOX1
Genomic and cartography
GoldenPath hg38 (UCSC)PKNOX1  -     chr21:42974562-43033931 +  21q22.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PKNOX1  -     21q22.3   [Description]    (hg19-Feb_2009)
GoldenPathPKNOX1 - 21q22.3 [CytoView hg19]  PKNOX1 - 21q22.3 [CytoView hg38]
ImmunoBaseENSG00000160199
Genome Data Viewer NCBIPKNOX1 [Mapview hg19]  
OMIM602100   
Gene and transcription
Genbank (Entrez)AA133342 AA494396 AK222892 AK294794 AY142115
RefSeq transcript (Entrez)NM_001286258 NM_001320694 NM_004571
Consensus coding sequences : CCDS (NCBI)PKNOX1
Gene ExpressionPKNOX1 [ NCBI-GEO ]   PKNOX1 [ EBI - ARRAY_EXPRESS ]   PKNOX1 [ SEEK ]   PKNOX1 [ MEM ]
Gene Expression Viewer (FireBrowse)PKNOX1 [ Firebrowse - Broad ]
GenevisibleExpression of PKNOX1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5316
GTEX Portal (Tissue expression)PKNOX1
Human Protein AtlasENSG00000160199-PKNOX1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP55347   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP55347  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP55347
PhosPhoSitePlusP55347
Domaine pattern : Prosite (Expaxy)HOMEOBOX_2 (PS50071)   
Domains : Interpro (EBI)Homeobox-like_sf    Homeobox_dom    Homeobox_KN_domain    PKNOX/Meis_N   
Domain families : Pfam (Sanger)Homeobox_KN (PF05920)    Meis_PKNOX_N (PF16493)   
Domain families : Pfam (NCBI)pfam05920    pfam16493   
Domain families : Smart (EMBL)HOX (SM00389)  
Conserved Domain (NCBI)PKNOX1
PDB (RSDB)1X2N   
PDB Europe1X2N   
PDB (PDBSum)1X2N   
PDB (IMB)1X2N   
Structural Biology KnowledgeBase1X2N   
SCOP (Structural Classification of Proteins)1X2N   
CATH (Classification of proteins structures)1X2N   
SuperfamilyP55347
AlphaFold pdb e-kbP55347   
Human Protein Atlas [tissue]ENSG00000160199-PKNOX1 [tissue]
HPRD03653
Protein Interaction databases
DIP (DOE-UCLA)P55347
IntAct (EBI)P55347
BioGRIDPKNOX1
STRING (EMBL)PKNOX1
ZODIACPKNOX1
Ontologies - Pathways
QuickGOP55347
Ontology : AmiGOchromatin  RNA polymerase II cis-regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  angiogenesis  chromatin binding  DNA-binding transcription factor activity  protein binding  nucleus  transcription regulator complex  cytoplasm  regulation of transcription by RNA polymerase II  transcription by RNA polymerase II  T cell differentiation  erythrocyte differentiation  camera-type eye development  positive regulation of transcription by RNA polymerase II  sequence-specific double-stranded DNA binding  
Ontology : EGO-EBIchromatin  RNA polymerase II cis-regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  angiogenesis  chromatin binding  DNA-binding transcription factor activity  protein binding  nucleus  transcription regulator complex  cytoplasm  regulation of transcription by RNA polymerase II  transcription by RNA polymerase II  T cell differentiation  erythrocyte differentiation  camera-type eye development  positive regulation of transcription by RNA polymerase II  sequence-specific double-stranded DNA binding  
NDEx NetworkPKNOX1
Atlas of Cancer Signalling NetworkPKNOX1
Wikipedia pathwaysPKNOX1
Orthology - Evolution
OrthoDB5316
GeneTree (enSembl)ENSG00000160199
Phylogenetic Trees/Animal Genes : TreeFamPKNOX1
Homologs : HomoloGenePKNOX1
Homology/Alignments : Family Browser (UCSC)PKNOX1
Gene fusions - Rearrangements
Fusion : MitelmanPKNOX1/H2BFM [21q22.3/Xq22.2]  
Fusion Cancer (Beijing)AK097625 [PKNOX1]  -  21q22.3 [FUSC001669]
Fusion : QuiverPKNOX1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPKNOX1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PKNOX1
dbVarPKNOX1
ClinVarPKNOX1
MonarchPKNOX1
1000_GenomesPKNOX1 
Exome Variant ServerPKNOX1
GNOMAD BrowserENSG00000160199
Varsome BrowserPKNOX1
ACMGPKNOX1 variants
VarityP55347
Genomic Variants (DGV)PKNOX1 [DGVbeta]
DECIPHERPKNOX1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPKNOX1 
Mutations
ICGC Data PortalPKNOX1 
TCGA Data PortalPKNOX1 
Broad Tumor PortalPKNOX1
OASIS PortalPKNOX1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPKNOX1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DPKNOX1
Mutations and Diseases : HGMDPKNOX1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaPKNOX1
DgiDB (Drug Gene Interaction Database)PKNOX1
DoCM (Curated mutations)PKNOX1
CIViC (Clinical Interpretations of Variants in Cancer)PKNOX1
Cancer3DPKNOX1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602100   
Orphanet
DisGeNETPKNOX1
MedgenPKNOX1
Genetic Testing Registry PKNOX1
NextProtP55347 [Medical]
GENETestsPKNOX1
Target ValidationPKNOX1
Huge Navigator PKNOX1 [HugePedia]
ClinGenPKNOX1
Clinical trials, drugs, therapy
MyCancerGenomePKNOX1
Protein Interactions : CTDPKNOX1
Pharm GKB GenePA33354
PharosP55347
Clinical trialPKNOX1
Miscellaneous
canSAR (ICR)PKNOX1
HarmonizomePKNOX1
DataMed IndexPKNOX1
Probes
Litterature
PubMed61 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXPKNOX1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:25:30 CEST 2021

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