Pax1
Gene Detail

Symbol Name ID

Pax1 paired box gene 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
Human Chr (Location)		20p11.2; chr20:21686297-21699124 (+)  GRCh37.p10

Alleles and phenotypes

All alleles(10) : Targeted(5) 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: (170 records)
Data Summary: Results (616)    Tissues (251)    Images (225)
Theiler Stages: 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 28

Assay Type	Results
Immunohistochemistry	24
RNA in situ	540
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(56) Genomic(15) cDNA(20) Primer pair(3) Other(18)
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 Knockout Project Status	Pax1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000015696	VEGA Gene Model | MGI Sequence Detail	31371	C57BL/6J
transcript	OTTMUST00000037303	VEGA | MGI Sequence Detail	2643	Not Applicable
polypeptide	OTTMUSP00000016707	VEGA | MGI Sequence Detail	446	Not Applicable

All sequences(34) RefSeq(2) UniProt(6)

Polymorphisms

All PCR and RFLP(8) : PCR(1) RFLP(7) SNPs(63 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR009057	Homeodomain-like
InterPro	IPR001523	Paired domain
InterPro	IPR011991	Winged helix-turn-helix transcription repressor DNA-binding
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:185743 Cotney J, et al., Chromatin state signatures associated with tissue-specific gene expression and enhancer activity in the embryonic limb. Genome Res. 2012 Jun;22(6):1069-80
All references(264)

Other accession IDs

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