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PKNOX1 PBX/knotted 1 homeobox 1 [ Homo sapiens (human) ]

Gene ID: 5316, updated on 8-Aug-2021

Summary

Official Symbol
PKNOX1provided by HGNC
Official Full Name
PBX/knotted 1 homeobox 1provided by HGNC
Primary source
HGNC:HGNC:9022
See related
Ensembl:ENSG00000160199 MIM:602100
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PREP1; pkonx1c
Expression
Ubiquitous expression in testis (RPKM 8.3), thyroid (RPKM 6.8) and 25 other tissues See more
Orthologs
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Genomic context

See PKNOX1 in Genome Data Viewer
Location:
21q22.3
Exon count:
11
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 21 NC_000021.9 (42974562..43033931)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (44394672..44454041)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene endogenous retrovirus group 48 member 1 Neighboring gene microRNA 5692b Neighboring gene cystathionine beta-synthase Neighboring gene uncharacterized LOC101928369 Neighboring gene U2 small nuclear RNA auxiliary factor 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Common genetic variation and performance on standardized cognitive tests.
GeneReviews: Not available
Genome-wide association study of biochemical traits in Korcula Island, Croatia.
GeneReviews: Not available
Genome-wide association study of selenium concentrations.
GeneReviews: Not available
Whole genome association scan for genetic polymorphisms influencing information processing speed.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in T cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in angiogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in camera-type eye development IEA
Inferred from Electronic Annotation
more info
 
involved_in erythrocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in transcription by RNA polymerase II TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
located_in chromatin ISA
Inferred from Sequence Alignment
more info
 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 
part_of transcription regulator complex IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
homeobox protein PKNOX1
Names
PBX/knotted homeobox 1
Pbx regulating protein-1
homeobox protein PREP-1
human homeobox-containing protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001286258.2NP_001273187.1  homeobox protein PKNOX1 isoform 2

    See identical proteins and their annotated locations for NP_001273187.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an exon in the 5' region and initiates translation from an in-frame downstream start codon compared to variant 1. The resulting isoform (2) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AK294794, AY196965, BP369805, CN294014
    Consensus CDS
    CCDS68211.1
    UniProtKB/TrEMBL
    B4DGV5, E7EPN6, Q96I87
    Related
    ENSP00000402243.2, ENST00000432907.6
    Conserved Domains (2) summary
    pfam05920
    Location:160199
    Homeobox_KN; Homeobox KN domain
    pfam16493
    Location:147
    Meis_PKNOX_N; N-terminal of Homeobox Meis and PKNOX1
  2. NM_001320694.2NP_001307623.1  homeobox protein PKNOX1 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate, in-frame splice site in the central coding region compared to variant 1. It encodes isoform 3, which is shorter than isoform 1.
    Source sequence(s)
    AA494396, AP001630, AY196965, BP369805, DR000771
    UniProtKB/TrEMBL
    Q96I87
    Conserved Domains (2) summary
    pfam05920
    Location:276315
    Homeobox_KN; Homeobox KN domain
    pfam16493
    Location:80165
    Meis_PKNOX_N; N-terminal of Homeobox Meis and PKNOX1
  3. NM_004571.5NP_004562.2  homeobox protein PKNOX1 isoform 1

    See identical proteins and their annotated locations for NP_004562.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AY196965, BC000735, BP369805, CN294014
    Consensus CDS
    CCDS13692.1
    UniProtKB/Swiss-Prot
    P55347
    UniProtKB/TrEMBL
    Q6PKH2, Q96I87
    Related
    ENSP00000291547.4, ENST00000291547.10
    Conserved Domains (2) summary
    pfam05920
    Location:277316
    Homeobox_KN; Homeobox KN domain
    pfam16493
    Location:80165
    Meis_PKNOX_N; N-terminal of Homeobox Meis and PKNOX1

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p13 Primary Assembly

    Range
    42974562..43033931
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_197976.1: Suppressed sequence

    Description
    NM_197976.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
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