Pbx1 MGI Mouse Gene Detail - MGI:97495 - pre B cell leukemia homeobox 1

Symbol

Pbx1
Name

pre B cell leukemia homeobox 1
Synonyms

2310056B04Rik, D230003C07Rik, Pbx-1, Pbx1a, Pbx1b

Feature Type

protein coding gene
IDs

MGI:97495
NCBI Gene: 18514
Alliance

gene page
Transcription Start Sites

23 TSS

Sequence Map

Chr1:167946933-168259839 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 1, 75.95 cM
Mapping Data

7 experiments

SNPs within 2kb

8749 from dbSNP Build 142
Strain Annotations

18
RFLP

2

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_97495	protein coding gene	Chr1:167946933-168259898 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0016718	protein coding gene	Chr1:173738847-174062419 (-)
A/J	MGP_AJ_G0016698	protein coding gene	Chr1:166627771-166959689 (-)
AKR/J	MGP_AKRJ_G0016664	protein coding gene	Chr1:171678615-172010409 (-)
BALB/cJ	MGP_BALBcJ_G0016659	protein coding gene	Chr1:167118938-167435635 (-)
C3H/HeJ	MGP_C3HHeJ_G0016483	protein coding gene	Chr1:171910916-172234807 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0017120	protein coding gene	Chr1:179526769-179853434 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0014829	protein coding gene	Chr1:158455083-158769360 (-)
CAST/EiJ	MGP_CASTEiJ_G0016063	protein coding gene	Chr1:171514483-171845555 (-)
CBA/J	MGP_CBAJ_G0016458	protein coding gene	Chr1:185923013-186263422 (-)
DBA/2J	MGP_DBA2J_G0016564	protein coding gene	Chr1:165483661-165801693 (-)
FVB/NJ	MGP_FVBNJ_G0016562	protein coding gene	Chr1:163931299-164247093 (-)
LP/J	MGP_LPJ_G0016635	protein coding gene	Chr1:174801721-175133722 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0016587	protein coding gene	Chr1:193265133-193596786 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0017157	protein coding gene	Chr1:171555566-171878046 (-)
PWK/PhJ	MGP_PWKPhJ_G0015849	protein coding gene	Chr1:164702168-165027942 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0015635	protein coding gene	Chr1:170298551-170638675 (-)
WSB/EiJ	MGP_WSBEiJ_G0016125	protein coding gene	Chr1:171667283-171993439 (-)

Human Ortholog

PBX1, PBX homeobox 1

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PBX1, PBX homeobox 1
Synonyms

CAKUHED
Links

HGNC:8632

NCBI Gene ID: 5087

neXtProt AC: NX_P40424

UniProt: P40424
Chr Location

1q23.3; chr1:164555584-164899296 (+) GRCh38

MGI Vertebrate Homology

Pbx1 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: PBX1
Gene Tree

Pbx1

Diseases

1 with Pbx1 mouse models; 1 with human PBX1 associations

Human Disease

Mouse Models

congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay

IDs

View 1 model

Click on a disease name to see all genes associated with that disease.

Mutations/Alleles

2 with disease annotations

References

2 with disease annotations

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Phenotype Summary

116 phenotypes from 9 alleles in 10 genetic backgrounds
31 phenotypes from multigenic genotypes
54 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

22
Chemically induced (other)

2
Endonuclease-mediated

3
Gene trapped

7
Targeted

10
Genomic Mutations

2 involving Pbx1
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

40 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous disruption of this gene causes late gestational death, hypoplasia/aplasia of many organs, impaired hematopoiesis, anemia, skin edema, axial and appendicular skeleton defects, absent adrenal glands, abnormal chondrocyte differentiation, and abnormal bone, kidney and pancreas development.

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All GO Annotations

75
GO References

32

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

1076
Tissues

273
cDNA Data

25
Literature Summary

112

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA PBX1

Xenbase pbx1

ZFIN pbx1a, pbx1b

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All Sequences

77
RefSeq

12
UniProt

6
CCDS

CCDS15461.1, CCDS15462.1, CCDS78739.1

Ensembl

ENSMUSG00000052534 (Evidence)
NCBI Gene

18514

			Length	Strain/Species	Flank
genomic	ENSMUSG00000052534	Ensembl Gene Model \| MGI Sequence Detail	312907	C57BL/6J	± kb
transcript	ENSMUST00000176540	Ensembl \| MGI Sequence Detail	6876	Not Applicable
polypeptide	ENSMUSP00000135516	Ensembl \| MGI Sequence Detail	430	Not Applicable

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UniProt

6 Sequences
Protein Ontology

PR:000012326 pre-B-cell leukemia transcription factor 1

(term hierarchy)
PDB

1DU6, 1LFU
InterPro Domains

IPR017970 Homeobox, conserved site

IPR001356 Homeobox domain

IPR008422 Homeobox KN domain

IPR009057 Homeobox-like domain superfamily

IPR005542 PBX, PBC domain

IPR050224 Three Amino acid Loop Extension (TALE) homeobox

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All nucleic 41

cDNA 27

Primer pair 10

Other 4

Microarray probesets 7

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MGD-MRK-13163, MGD-MRK-13164, MGI:1917652, MGI:2138350, MGI:2138411, MGI:2444643

Summaries

All 221

Developmental Gene Expression 112

Diseases 2

Gene Ontology 32

Phenotypes 54
Earliest

J:13147 Kamps MP, et al., A new homeobox gene contributes the DNA binding domain of the t(1;19) translocation protein in pre-B ALL. Cell. 1990 Feb 23;60(4):547-55
Latest

J:349843 Ning Y, et al., Transcription factor PBX4 regulates limb development and haematopoiesis in mice. Cell Prolif. 2024 May;57(5):e13580

TSS for Pbx1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr14883	Chr1:168259875-168259916 (-)	-57 bp
Tssr14882	Chr1:168259773-168259794 (-)	55 bp
Tssr14881	Chr1:168259760-168259771 (-)	73 bp
Tssr14880	Chr1:168259711-168259755 (-)	106 bp
Tssr14879	Chr1:168259680-168259694 (-)	152 bp
Tssr14878	Chr1:168259478-168259551 (-)	324 bp
Tssr14877	Chr1:168259465-168259474 (-)	369 bp
Tssr14876	Chr1:168259429-168259453 (-)	398 bp
Tssr14875	Chr1:168259264-168259282 (-)	566 bp
Tssr14874	Chr1:168259215-168259235 (-)	614 bp
Tssr14873	Chr1:168259168-168259207 (-)	651 bp
Tssr14872	Chr1:168259133-168259160 (-)	692 bp
Tssr14871	Chr1:168259116-168259127 (-)	717 bp
Tssr14870	Chr1:168259071-168259082 (-)	762 bp
Tssr14869	Chr1:168258836-168258838 (-)	1,002 bp
Tssr14868	Chr1:168233845-168233848 (-)	25,992 bp
Tssr14867	Chr1:168223128-168223132 (-)	36,709 bp
Tssr14866	Chr1:168197659-168197664 (-)	62,177 bp
Tssr14865	Chr1:168170573-168170584 (-)	89,260 bp
Tssr14864	Chr1:168150841-168150845 (-)	108,996 bp
Tssr14863	Chr1:168121014-168121020 (-)	138,822 bp
Tssr14862	Chr1:168043052-168043058 (-)	216,784 bp
Tssr14861	Chr1:167983346-167983362 (-)	276,485 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)
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