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P09084

- PAX1_MOUSE

UniProt

P09084 - PAX1_MOUSE

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Protein

Paired box protein Pax-1

Gene
Pax1, Pax-1
Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

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.

GO - Molecular functioni

  1. DNA binding Source: UniProtKB-KW
  2. sequence-specific DNA binding transcription factor activity Source: MGI

GO - Biological processi

  1. bone morphogenesis Source: MGI
  2. CD4-positive, alpha-beta T cell differentiation Source: MGI
  3. CD8-positive, alpha-beta T cell differentiation Source: MGI
  4. cell proliferation Source: MGI
  5. organ morphogenesis Source: MGI
  6. parathyroid gland development Source: MGI
  7. pattern specification process Source: MGI
  8. positive regulation of transcription from RNA polymerase II promoter Source: MGI
  9. regulation of transcription, DNA-templated Source: MGI
  10. sclerotome development Source: UniProtKB
  11. skeletal system development Source: MGI
  12. somitogenesis Source: MGI
  13. thymus development Source: MGI
  14. transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Activator, Developmental protein

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Paired box protein Pax-1
Gene namesi
Name:Pax1
Synonyms:Pax-1
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
ProteomesiUP000000589: Chromosome 2

Organism-specific databases

MGIiMGI:97485. Pax1.

Subcellular locationi

GO - Cellular componenti

  1. nucleus Source: UniProtKB-SubCell
  2. transcription factor complex Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

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.

Keywords - Diseasei

Disease mutation

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 446446Paired box protein Pax-1PRO_0000050173Add
BLAST

Proteomic databases

PRIDEiP09084.

PTM databases

PhosphoSiteiP09084.

Expressioni

Gene expression databases

BgeeiP09084.
CleanExiMM_PAX1.
GenevestigatoriP09084.

Interactioni

Protein-protein interaction databases

BioGridi202028. 2 interactions.

Structurei

3D structure databases

ProteinModelPortaliP09084.
SMRiP09084. Positions 93-215.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini89 – 215127PairedAdd
BLAST

Sequence similaritiesi

Contains 1 paired domain.

Keywords - Domaini

Paired box

Phylogenomic databases

eggNOGiNOG252808.
GeneTreeiENSGT00680000099553.
HOGENOMiHOG000230938.
HOVERGENiHBG009115.
InParanoidiP09084.
KOiK09382.
OMAiKMGSHHG.
PhylomeDBiP09084.
TreeFamiTF315397.

Family and domain databases

Gene3Di1.10.10.10. 2 hits.
InterProiIPR009057. Homeodomain-like.
IPR001523. Paired_dom.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PfamiPF00292. PAX. 1 hit.
[Graphical view]
PRINTSiPR00027. PAIREDBOX.
SMARTiSM00351. PAX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00034. PAIRED_1. 1 hit.
PS51057. PAIRED_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

P09084-1 [UniParc]FASTAAdd to Basket

« Hide

MKFTLGLGSR AWRVSWERAA AAAAGPGAGG ALGSGSLRVS SRRGPRLARA    50
LPLCLSGGGG ARALPDCAGP SPRRSGARQL AGPRAMEQTY GEVNQLGGVF 100
VNGRPLPNAI RLRIVELAQL GIRPCDISRQ LRVSHGCVSK ILARYNETGS 150
ILPGAIGGSK PRVTTPNVVK HIRDYKQGDP GIFAWEIRDR LLADGVCDKY 200
NVPSVSSISR ILRNKIGSLA QPGPYEASKQ PPPQPALPYN HIYQYPYPSP 250
VSPTGTKMGT HPGVPGSAGH VSIPRSWPSA HSVSNILGIR TFMEQTGALA 300
GSEGAAYSPK MEDWAGVNRA AFPTSPAVNG LEKPALEADI KYTQSASSLS 350
AVGGFLPACA YPASNQHGVY SAPAAGYLSP GPPWPPAQAP PLTPHGAGVA 400
VHGGELAAAM TFKHREGTDR KPPSPGGKAT DALGSLHGLP IPASTS 446
Length:446
Mass (Da):46,263
Last modified:May 18, 2010 - v4
Checksum:i635FE7318A946D6C
GO

Sequence cautioni

The sequence AAA39888.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
The sequence AAA37793.1 differs from that shown. Reason: Erroneous gene model prediction.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti103 – 1031G → S in un. 1 Publication

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti141 – 1411I → M in AAA37793. 1 Publication
Sequence conflicti300 – 3001A → T in AAA39888. 1 Publication
Sequence conflicti345 – 3451S → L in AAA39888. 1 Publication
Sequence conflicti367 – 3671H → Q in AAA39888. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS16835.2.
PIRiA29902.
A40023.
RefSeqiNP_032806.2. NM_008780.2.
UniGeneiMm.315502.

Genome annotation databases

EnsembliENSMUST00000109968; ENSMUSP00000105594; ENSMUSG00000037034.
GeneIDi18503.
KEGGimmu:18503.
UCSCiuc008msx.2. mouse.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSi CCDS16835.2.
PIRi A29902.
A40023.
RefSeqi NP_032806.2. NM_008780.2.
UniGenei Mm.315502.

3D structure databases

ProteinModelPortali P09084.
SMRi P09084. Positions 93-215.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 202028. 2 interactions.

PTM databases

PhosphoSitei P09084.

Proteomic databases

PRIDEi P09084.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENSMUST00000109968 ; ENSMUSP00000105594 ; ENSMUSG00000037034 .
GeneIDi 18503.
KEGGi mmu:18503.
UCSCi uc008msx.2. mouse.

Organism-specific databases

CTDi 5075.
MGIi MGI:97485. Pax1.

Phylogenomic databases

eggNOGi NOG252808.
GeneTreei ENSGT00680000099553.
HOGENOMi HOG000230938.
HOVERGENi HBG009115.
InParanoidi P09084.
KOi K09382.
OMAi KMGSHHG.
PhylomeDBi P09084.
TreeFami TF315397.

Miscellaneous databases

NextBioi 294216.
PROi P09084.
SOURCEi Search...

Gene expression databases

Bgeei P09084.
CleanExi MM_PAX1.
Genevestigatori P09084.

Family and domain databases

Gene3Di 1.10.10.10. 2 hits.
InterProi IPR009057. Homeodomain-like.
IPR001523. Paired_dom.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view ]
Pfami PF00292. PAX. 1 hit.
[Graphical view ]
PRINTSi PR00027. PAIREDBOX.
SMARTi SM00351. PAX. 1 hit.
[Graphical view ]
SUPFAMi SSF46689. SSF46689. 1 hit.
PROSITEi PS00034. PAIRED_1. 1 hit.
PS51057. PAIRED_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    Strain: C57BL/6J.
  3. 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.

Entry informationi

Entry nameiPAX1_MOUSE
AccessioniPrimary (citable) accession number: P09084
Secondary accession number(s): A2ALJ9, Q9R2B1
Entry historyi
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 statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi