Pax1 MGI Mouse Gene Detail - MGI:97485

Symbol

Pax1
Name

paired box 1
Synonyms

hbs, hunchback, Pax-1, wavy tail, wt

Feature Type

protein coding gene
IDs

MGI:97485
NCBI Gene: 18503
Alliance

gene page
Transcription Start Sites

10 TSS

Sequence Map

Chr2:147203850-147216972 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 2, 72.63 cM
Mapping Data

77 experiments

SNPs within 2kb

419 from dbSNP Build 142
Strain Annotations

18
PCR

1
RFLP

7

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_97485	protein coding gene	Chr2:147203845-147235215 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0026604	protein coding gene	Chr2:151642453-151675944 (+)
A/J	MGP_AJ_G0026568	protein coding gene	Chr2:145480113-145512314 (+)
AKR/J	MGP_AKRJ_G0026542	protein coding gene	Chr2:149731989-149762458 (+)
BALB/cJ	MGP_BALBcJ_G0026580	protein coding gene	Chr2:145911742-145942874 (+)
C3H/HeJ	MGP_C3HHeJ_G0026323	protein coding gene	Chr2:150176252-150207950 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0027025	protein coding gene	Chr2:156073163-156104854 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0024403	protein coding gene	Chr2:139523773-139553810 (+)
CAST/EiJ	MGP_CASTEiJ_G0025784	protein coding gene	Chr2:150551585-150586618 (+)
CBA/J	MGP_CBAJ_G0026303	protein coding gene	Chr2:161773863-161804581 (+)
DBA/2J	MGP_DBA2J_G0026437	protein coding gene	Chr2:144741511-144774803 (+)
FVB/NJ	MGP_FVBNJ_G0026401	protein coding gene	Chr2:143277414-143310287 (+)
LP/J	MGP_LPJ_G0026541	protein coding gene	Chr2:151773729-151806583 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0026421	protein coding gene	Chr2:165895892-165927719 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0027080	protein coding gene	Chr2:149678399-149710128 (+)
PWK/PhJ	MGP_PWKPhJ_G0025520	protein coding gene	Chr2:144437544-144469332 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0025321	protein coding gene	Chr2:148661935-148692691 (+)
WSB/EiJ	MGP_WSBEiJ_G0025858	protein coding gene	Chr2:150625476-150659255 (+)

Human Ortholog

PAX1, paired box 1

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PAX1, paired box 1
Synonyms

HUP48, OFC2, OTFCS2
Links

HGNC:8615

NCBI Gene ID: 5075

neXtProt AC: NX_P15863

UniProt: P15863
Chr Location

20p11.22; chr20:21705659-21718481 (+) GRCh38

MGI Vertebrate Homology

Pax1 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: PAX1
Gene Tree

Pax1

Diseases

1 with human PAX1 associations

				Human Disease	Mouse Models
				branchiootorenal syndrome IDs branchiootorenal syndrome DOID:14702 MESH:D019280 NCI:C98983 UMLS_CUI:C0265234

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

Mutations/Alleles

1 with disease annotations

References

1 with disease annotations

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Phenotype Summary

63 phenotypes from 10 alleles in 13 genetic backgrounds
36 phenotypes from multigenic genotypes
1 images
47 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

16
Chemically induced (ENU)

1
Chemically induced (other)

1
Radiation induced

1
Spontaneous

5
Targeted

8
Genomic Mutations

2 involving Pax1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

28 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygotes for several mutations exhibit variably severe morphological alterations of vertebral column, sternum, scapula, skull, and thymus, with reduced adult survival and fertility. Some heterozygotes show milder skeletal abnormalities.

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All GO Annotations

29
GO References

12

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

1652
Tissues

315
cDNA Data

21
Literature Summary

206

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase pax1

ZFIN pax1a, pax1b

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All Sequences

43
RefSeq

4
UniProt

6
CCDS

CCDS16835.2

Ensembl

ENSMUSG00000037034 (Evidence)
NCBI Gene

18503

			Length	Strain/Species	Flank
genomic	18503	NCBI Gene Model \| MGI Sequence Detail	13123	C57BL/6J	± kb
transcript	NM_008780	RefSeq \| MGI Sequence Detail	2639	Not Specified
polypeptide	P09084	UniProt \| EBI \| MGI Sequence Detail	446	Not Applicable

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UniProt

6 Sequences
Protein Ontology

PR:000012314 paired box protein Pax-1

(term hierarchy)
InterPro Domains

IPR009057 Homeobox-like domain superfamily

IPR043182 Paired DNA-binding domain

IPR001523 Paired domain

IPR043565 PAX family

IPR036388 Winged helix-like DNA-binding domain superfamily

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All nucleic 99

Genomic 15

cDNA 29

Primer pair 10

Other 45

Microarray probesets 3

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MGD-MRK-10643, MGD-MRK-13144, MGD-MRK-13153, MGD-MRK-15355, MGD-MRK-15463

Summaries

All 306

Developmental Gene Expression 206

Diseases 1

Gene Ontology 12

Phenotypes 47
Earliest

J:84 Carter TC, A new linkage in the house mouse: undulated and agouti. Heredity. 1947;1(3):367-372
Latest

J:346374 Ushiki A, et al., Deletion of Pax1 scoliosis-associated regulatory elements leads to a female-biased tail abnormality. Cell Rep. 2024 Mar 8;43(3):113907

TSS for Pax1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr20625	Chr2:147203879-147203886 (+)	33 bp
Tssr20626	Chr2:147206875-147206882 (+)	3,029 bp
Tssr20627	Chr2:147206909-147206931 (+)	3,070 bp
Tssr20628	Chr2:147206933-147206953 (+)	3,093 bp
Tssr20629	Chr2:147206956-147206967 (+)	3,112 bp
Tssr20630	Chr2:147208059-147208079 (+)	4,219 bp
Tssr20631	Chr2:147215768-147215783 (+)	11,926 bp
Tssr20632	Chr2:147215829-147215839 (+)	11,984 bp
Tssr20633	Chr2:147215867-147215875 (+)	12,021 bp
Tssr20634	Chr2:147215955-147215968 (+)	12,112 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 11/12/2024 MGI 6.24