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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 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: paired box protein PAX
Gene Tree: Pax1

Human
homologs
Human Homolog PAX1, paired box 1
NCBI Gene ID 5075
neXtProt AC  NX_P15863
Human Synonyms  HUP48, OFC2
Human Chr (Location)  20p11.2; chr20:21705659-21718486 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human PAX1
Alleles
and
phenotypes
All alleles(12) : Targeted(7) Spontaneous(5)
 
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.
 
Alleles Annotated to Human Diseases(1)   
Gene Ontology
(GO)
classifications
All GO classifications: (21 annotations)
Process bone morphogenesis, CD4-positive, alpha-beta T cell differentiation, ...
Component nucleus, transcription factor complex
Function DNA binding, sequence-specific DNA binding transcription factor activity
External Resources: FuncBase
Expression
Literature Summary: (175 records)
Data Summary: Results (637)    Tissues (256)    Images (239)
Theiler Stages: 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 28
Assay TypeResults
Immunohistochemistry 24
RNA in situ 561
Northern blot 17
Western blot 4
RT-PCR 9
RNase protection 22
cDNA source data(14)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(61) Genomic(15) cDNA(20) Primer pair(3) Other(23)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000015696 (Evidence)
Ensembl Gene ModelENSMUSG00000037034 (Evidence)
Entrez Gene18503 (Evidence)
DFCITC1586715, TC1638233
DoTSDT.60101293, DT.94295927, DT.99842466
NIA Mouse Gene IndexU002594
Consensus CDS ProjectCCDS16835.2
International Mouse Knockout Project StatusPax1
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(38) RefSeq(6) 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:199574 Takahashi Y, et al., Metameric pattern of intervertebral disc/vertebral body is generated independently of Mesp2/Ripply-mediated rostro-caudal patterning of somites in the mouse embryo. Dev Biol. 2013 Aug 15;380(2):172-84
All references(269)
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
04/08/2014
MGI 5.17
The Jackson Laboratory