Pknox1 MGI Mouse Gene Detail - MGI:1201409

Symbol

Pknox1
Name

Pbx/knotted 1 homeobox
Synonyms

D17Wsu76e, PREP1

Feature Type

protein coding gene
IDs

MGI:1201409
NCBI Gene: 18771
Alliance

gene page
Transcription Start Sites

7 TSS

Sequence Map

Chr17:31783708-31826667 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 17, 16.78 cM, cytoband B-C
Mapping Data

7 experiments

SNPs within 2kb

1292 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1201409	protein coding gene	Chr17:31783697-31826667 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0023491	protein coding gene	Chr17:31365230-31392835 (+)
A/J	MGP_AJ_G0023449	protein coding gene	Chr17:30332401-30358830 (+)
AKR/J	MGP_AKRJ_G0023414	protein coding gene	Chr17:30597633-30623436 (+)
BALB/cJ	MGP_BALBcJ_G0023454	protein coding gene	Chr17:30424648-30450423 (+)
C3H/HeJ	MGP_C3HHeJ_G0023215	protein coding gene	Chr17:30971986-30999711 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0023896	protein coding gene	Chr17:32427426-32476049 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0021370	protein coding gene	Chr17:27456625-27482182 (+)
CAST/EiJ	MGP_CASTEiJ_G0022716	protein coding gene	Chr17:31026479-31060044 (+)
CBA/J	MGP_CBAJ_G0023190	protein coding gene	Chr17:33856897-33884864 (+)
DBA/2J	MGP_DBA2J_G0023320	protein coding gene	Chr17:29730352-29758457 (+)
FVB/NJ	MGP_FVBNJ_G0023290	protein coding gene	Chr17:29525277-29551412 (+)
LP/J	MGP_LPJ_G0023398	protein coding gene	Chr17:31588017-31617392 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0023308	protein coding gene	Chr17:32939148-32973144 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0023938	protein coding gene	Chr17:30968939-30995882 (+)
PWK/PhJ	MGP_PWKPhJ_G0022466	protein coding gene	Chr17:28600477-28626858 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0022284	protein coding gene	Chr17:28956085-28985510 (+)
WSB/EiJ	MGP_WSBEiJ_G0022778	protein coding gene	Chr17:30929413-30956587 (+)

Human Ortholog

PKNOX1, PBX/knotted 1 homeobox 1

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PKNOX1, PBX/knotted 1 homeobox 1
Synonyms

pkonx1c, PREP1
Links

HGNC:9022

NCBI Gene ID: 5316

neXtProt AC: NX_P55347

UniProt: P55347
Chr Location

21q22.3; chr21:42974510-43033931 (+) GRCh38

MGI Vertebrate Homology

Pknox1 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: PKNOX1
Gene Tree

Pknox1

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References

3 with disease annotations

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Phenotype Summary

53 phenotypes from 7 alleles in 11 genetic backgrounds
12 phenotypes from multigenic genotypes
1 images
63 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

190
Endonuclease-mediated

1
Gene trapped

174
Targeted

15
Genomic Mutations

4 involving Pknox1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

90 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous mutation of this gene results in embryonic lethality during fetal growth and development with variable penetrance, decreased body weight, and impaired T cell development.

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All GO Annotations

27
GO References

13

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

922
Tissues

179
cDNA Data

18
Literature Summary

28

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase pknox1

ZFIN pknox1.2

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All Sequences

103
RefSeq

34
UniProt

8
CCDS

CCDS28608.1

Ensembl

ENSMUSG00000006705 (Evidence)
NCBI Gene

18771

			Length	Strain/Species	Flank
genomic	ENSMUSG00000006705	Ensembl Gene Model \| MGI Sequence Detail	42960	C57BL/6J	± kb
transcript	ENSMUST00000097352	Ensembl \| MGI Sequence Detail	4252	Not Applicable
polypeptide	ENSMUSP00000094966	Ensembl \| MGI Sequence Detail	436	Not Applicable

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UniProt

8 Sequences
Protein Ontology

PR:000012788 homeobox protein PKNOX1

(term hierarchy)
InterPro Domains

IPR001356 Homeobox domain

IPR008422 Homeobox KN domain

IPR009057 Homeobox-like domain superfamily

IPR032453 Homeobox protein PKNOX/Meis, N-terminal

IPR050224 Three Amino acid Loop Extension (TALE) homeobox

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All nucleic 27

Genomic 2

cDNA 18

Primer pair 6

Other 1

Microarray probesets 4

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MGD-MRK-33976, MGI:106284

Summaries

All 129

Developmental Gene Expression 28

Diseases 3

Gene Ontology 13

Phenotypes 63
Earliest

J:45106 Knoepfler PS, et al., Meis1 and pKnox1 bind DNA cooperatively with Pbx1 utilizing an interaction surface disrupted in oncoprotein E2a-Pbx1. Proc Natl Acad Sci U S A. 1997 Dec 23;94(26):14553-8
Latest

J:357279 Donovan MG, et al., Multimodal analysis of dysregulated heme metabolism, hypoxic signaling, and stress erythropoiesis in Down syndrome. Cell Rep. 2024 Aug 27;43(8):114599

TSS for Pknox1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr143672	Chr17:31783723-31783828 (+)	68 bp
Tssr143673	Chr17:31783829-31783847 (+)	130 bp
Tssr143674	Chr17:31783922-31783937 (+)	222 bp
Tssr143675	Chr17:31804855-31804886 (+)	21,163 bp
Tssr143676	Chr17:31805344-31805348 (+)	21,638 bp
Tssr143677	Chr17:31810693-31810733 (+)	27,005 bp
Tssr143678	Chr17:31813796-31813813 (+)	30,097 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/10/2024 MGI 6.24