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Pax1
Gene Detail
Symbol

Name
ID
Pax1
paired box 1
MGI:97485
Synonyms
hbs, hunchback, Pax-1, wavy tail, wt
Feature Type
protein coding gene
Genetic Map
Chromosome 2
72.63 cM
Detailed Genetic Map ± 1 cM


Mapping data(76)
Sequence Map
Chr2:147361925-147393295 bp, + strand
From VEGA annotation of GRCm38

  31371 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:4514  Vertebrate Homology Class
1 human; 1 mouse; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 2 zebrafish

HCOP human homology predictions: PAX1
Protein SuperFamily: paired box protein PAX
Gene Tree: Pax1

Human
homologs
PAX1, paired box 1
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 5075
neXtProt AC: NX_P15863

Human Synonyms: HUP48, OFC2

Human Chr (Location): 20p11.2; chr20:21705659-21718486 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human PAX1

Mutations,
alleles, and
phenotypes
All mutations/alleles(12) : Spontaneous(5) Targeted(7)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
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.
 
Mutations Annotated to Human Diseases (1)    Phenotype Images(1)
Interactions
Pax1 interacts with 142 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (179 records)
Data Summary: Results (637)    Tissues (256)    Images (241)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 24
RNA in situ 561
Northern blot 17
Western blot 4
RT-PCR 9
RNase protection 22
cDNA source data(14)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase pax1 ; ZFIN pax1b    NEW 
Molecular
reagents
All nucleic(61) Genomic(15) cDNA(20) Primer pair(3) Other(23)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000015696 (Evidence)
Ensembl Gene Model ENSMUSG00000037034 (Evidence)
Entrez Gene 18503 (Evidence)
DFCI TC1586715, TC1638233
DoTS DT.60101293, DT.94295927, DT.99842466
NIA Mouse Gene Index U002594
Consensus CDS Project CCDS16835.2
International Mouse Phenotyping Consortium Status Pax1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000015696 VEGA Gene Model | MGI Sequence Detail 31371 C57BL/6J ±  kb
transcript OTTMUST00000037303 VEGA | MGI Sequence Detail 2643 Not Applicable 
polypeptide OTTMUSP00000016707 VEGA | MGI Sequence Detail 446 Not Applicable 

For the selected sequences
All sequences(37) RefSeq(4) UniProt(6)
Polymorphisms
All PCR and RFLP(8) : PCR(1) RFLP(7) SNPs within 2kb(368 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR009057 Homeodomain-like
InterPro IPR001523 Paired domain
InterPro IPR011991 Winged helix-turn-helix DNA-binding domain
Protein Ontology PR:000012314 paired box protein Pax-1
References
(Earliest) J:84 Carter TC, A new linkage in the house mouse: undulated and agouti. Heredity. 1947;1:367-372
(Latest) J:216520 Beck-Cormier S, et al., Notchless is required for axial skeleton formation in mice. PLoS One. 2014;9(5):e98507
All references(270)
Other
accession IDs
MGD-MRK-10643, MGD-MRK-13144, MGD-MRK-13153, MGD-MRK-15355, MGD-MRK-15463

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/21/2015
MGI 5.22
The Jackson Laboratory