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P09084 (PAX1_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 124. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (2) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Paired box protein Pax-1
Gene names
Name:Pax1
Synonyms:Pax-1
OrganismMus musculus (Mouse) [Reference proteome]
Taxonomic identifier10090 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus

Protein attributes

Sequence length446 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

This protein is a transcriptional activator. It may play a role in the formation of segmented structures of the embryo. May play an important role in the normal development of the vertebral column.

Subcellular location

Nucleus.

Involvement in disease

Undulated (un) homozygous mice exhibits vertebral malformations along the entire rostro-caudal axis. This is due to a single mutation in the paired box region.

Sequence similarities

Contains 1 paired domain.

Sequence caution

The sequence AAA37793.1 differs from that shown. Reason: Erroneous gene model prediction.

The sequence AAA39888.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Ontologies

Keywords
   Biological processTranscription
Transcription regulation
   Cellular componentNucleus
   DiseaseDisease mutation
   DomainPaired box
   LigandDNA-binding
   Molecular functionActivator
Developmental protein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processCD4-positive, alpha-beta T cell differentiation

Inferred from mutant phenotype PubMed 16093716. Source: MGI

CD8-positive, alpha-beta T cell differentiation

Inferred from mutant phenotype PubMed 16093716. Source: MGI

bone morphogenesis

Inferred from mutant phenotype PubMed 7607069. Source: MGI

cell proliferation

Inferred from mutant phenotype PubMed 10364424. Source: MGI

organ morphogenesis

Traceable author statement PubMed 10197584. Source: MGI

parathyroid gland development

Inferred from genetic interaction PubMed 11476574. Source: MGI

pattern specification process

Inferred from mutant phenotype PubMed 11900462. Source: MGI

positive regulation of transcription from RNA polymerase II promoter

Inferred from genetic interaction PubMed 15024065. Source: MGI

regulation of transcription, DNA-templated

Traceable author statement PubMed 10197584. Source: MGI

sclerotome development

Inferred from expression pattern PubMed 7743923. Source: UniProtKB

skeletal system development

Inferred from mutant phenotype PubMed 10364424PubMed 11900462. Source: MGI

somitogenesis

Inferred from mutant phenotype PubMed 16093716. Source: MGI

thymus development

Inferred from genetic interaction PubMed 11476574. Source: MGI

transcription, DNA-templated

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentnucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

transcription factor complex

Traceable author statement PubMed 10197584. Source: MGI

   Molecular_functionDNA binding

Inferred from electronic annotation. Source: UniProtKB-KW

sequence-specific DNA binding transcription factor activity

Traceable author statement PubMed 10197584. Source: MGI

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 446446Paired box protein Pax-1
PRO_0000050173

Regions

Domain89 – 215127Paired

Natural variations

Natural variant1031G → S in un. Ref.5

Experimental info

Sequence conflict1411I → M in AAA37793. Ref.4
Sequence conflict3001A → T in AAA39888. Ref.3
Sequence conflict3451S → L in AAA39888. Ref.3
Sequence conflict3671H → Q in AAA39888. Ref.3

Sequences

Sequence LengthMass (Da)Tools
P09084 [UniParc].

Last modified May 18, 2010. Version 4.
Checksum: 635FE7318A946D6C

FASTA44646,263
        10         20         30         40         50         60 
MKFTLGLGSR AWRVSWERAA AAAAGPGAGG ALGSGSLRVS SRRGPRLARA LPLCLSGGGG 

        70         80         90        100        110        120 
ARALPDCAGP SPRRSGARQL AGPRAMEQTY GEVNQLGGVF VNGRPLPNAI RLRIVELAQL 

       130        140        150        160        170        180 
GIRPCDISRQ LRVSHGCVSK ILARYNETGS ILPGAIGGSK PRVTTPNVVK HIRDYKQGDP 

       190        200        210        220        230        240 
GIFAWEIRDR LLADGVCDKY NVPSVSSISR ILRNKIGSLA QPGPYEASKQ PPPQPALPYN 

       250        260        270        280        290        300 
HIYQYPYPSP VSPTGTKMGT HPGVPGSAGH VSIPRSWPSA HSVSNILGIR TFMEQTGALA 

       310        320        330        340        350        360 
GSEGAAYSPK MEDWAGVNRA AFPTSPAVNG LEKPALEADI KYTQSASSLS AVGGFLPACA 

       370        380        390        400        410        420 
YPASNQHGVY SAPAAGYLSP GPPWPPAQAP PLTPHGAGVA VHGGELAAAM TFKHREGTDR 

       430        440 
KPPSPGGKAT DALGSLHGLP IPASTS 

« Hide

References

« Hide 'large scale' references
[1]"Evolutionary conservation of gene structure of the pax1/9 gene family."
Egger C., Schorpp M., Boehm T.
Submitted (MAR-1999) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
Strain: 129/Sv.
[2]"Lineage-specific biology revealed by a finished genome assembly of the mouse."
Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X., Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y., Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S. expand/collapse author list , Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R., Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K., Eichler E.E., Ponting C.P.
PLoS Biol. 7:E1000112-E1000112(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Strain: C57BL/6J.
[3]"The molecular basis of the undulated/Pax-1 mutation."
Chalepakis G., Fritsch R., Fickenscher H., Deutsch U., Goulding M.D., Gruss P.
Cell 66:873-884(1991) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 5-446.
[4]"Pax 1, a member of a paired box homologous murine gene family, is expressed in segmented structures during development."
Deutsch U., Dressler G.R., Gruss P.
Cell 53:617-625(1988) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 91-217.
[5]"Undulated, a mutation affecting the development of the mouse skeleton, has a point mutation in the paired box of Pax 1."
Balling R., Dressler G.R., Gruss P.
Cell 55:531-535(1988) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT UN SER-103.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AJ133503, AJ133504, AJ133505 Genomic DNA. Translation: CAB38370.1.
AL805918 Genomic DNA. Translation: CAM17060.2.
M69222 mRNA. Translation: AAA39888.1. Different initiation.
M20978 Genomic DNA. Translation: AAA37793.1. Sequence problems.
CCDSCCDS16835.2.
PIRA29902.
A40023.
RefSeqNP_032806.2. NM_008780.2.
UniGeneMm.315502.

3D structure databases

ProteinModelPortalP09084.
SMRP09084. Positions 93-215.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid202028. 2 interactions.

PTM databases

PhosphoSiteP09084.

Proteomic databases

PRIDEP09084.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENSMUST00000109968; ENSMUSP00000105594; ENSMUSG00000037034.
GeneID18503.
KEGGmmu:18503.
UCSCuc008msx.2. mouse.

Organism-specific databases

CTD5075.
MGIMGI:97485. Pax1.

Phylogenomic databases

eggNOGNOG252808.
GeneTreeENSGT00680000099553.
HOGENOMHOG000230938.
HOVERGENHBG009115.
InParanoidP09084.
KOK09382.
OMAKMGSHHG.
PhylomeDBP09084.
TreeFamTF315397.

Gene expression databases

BgeeP09084.
CleanExMM_PAX1.
GenevestigatorP09084.

Family and domain databases

Gene3D1.10.10.10. 2 hits.
InterProIPR009057. Homeodomain-like.
IPR001523. Paired_dom.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PfamPF00292. PAX. 1 hit.
[Graphical view]
PRINTSPR00027. PAIREDBOX.
SMARTSM00351. PAX. 1 hit.
[Graphical view]
SUPFAMSSF46689. SSF46689. 1 hit.
PROSITEPS00034. PAIRED_1. 1 hit.
PS51057. PAIRED_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

NextBio294216.
PROP09084.
SOURCESearch...

Entry information

Entry namePAX1_MOUSE
AccessionPrimary (citable) accession number: P09084
Secondary accession number(s): A2ALJ9, Q9R2B1
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1988
Last sequence update: May 18, 2010
Last modified: July 9, 2014
This is version 124 of the entry and version 4 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Relevant documents

SIMILARITY comments

Index of protein domains and families

MGD cross-references

Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot