Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Paired box protein Pax-1

Gene

Pax1

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: 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.
ExpressionAtlasiP09084. baseline and differential.
GenevestigatoriP09084.

Interactioni

Protein-protein interaction databases

BioGridi202028. 2 interactions.

Structurei

3D structure databases

ProteinModelPortaliP09084.
SMRiP09084. Positions 93-215.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini89 – 215127PairedPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 1 paired domain.PROSITE-ProRule annotation

Keywords - Domaini

Paired box

Phylogenomic databases

eggNOGiNOG252808.
GeneTreeiENSGT00680000099553.
HOGENOMiHOG000230938.
HOVERGENiHBG009115.
InParanoidiP09084.
KOiK09382.
OMAiAHSVTNI.
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

        10         20         30         40         50
MKFTLGLGSR AWRVSWERAA AAAAGPGAGG ALGSGSLRVS SRRGPRLARA
60 70 80 90 100
LPLCLSGGGG ARALPDCAGP SPRRSGARQL AGPRAMEQTY GEVNQLGGVF
110 120 130 140 150
VNGRPLPNAI RLRIVELAQL GIRPCDISRQ LRVSHGCVSK ILARYNETGS
160 170 180 190 200
ILPGAIGGSK PRVTTPNVVK HIRDYKQGDP GIFAWEIRDR LLADGVCDKY
210 220 230 240 250
NVPSVSSISR ILRNKIGSLA QPGPYEASKQ PPPQPALPYN HIYQYPYPSP
260 270 280 290 300
VSPTGTKMGT HPGVPGSAGH VSIPRSWPSA HSVSNILGIR TFMEQTGALA
310 320 330 340 350
GSEGAAYSPK MEDWAGVNRA AFPTSPAVNG LEKPALEADI KYTQSASSLS
360 370 380 390 400
AVGGFLPACA YPASNQHGVY SAPAAGYLSP GPPWPPAQAP PLTPHGAGVA
410 420 430 440
VHGGELAAAM TFKHREGTDR KPPSPGGKAT DALGSLHGLP IPASTS
Length:446
Mass (Da):46,263
Last modified:May 18, 2010 - v4
Checksum:i635FE7318A946D6C
GO

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti141 – 1411I → M in AAA37793 (PubMed:2453291).Curated
Sequence conflicti300 – 3001A → T in AAA39888 (PubMed:1889089).Curated
Sequence conflicti345 – 3451S → L in AAA39888 (PubMed:1889089).Curated
Sequence conflicti367 – 3671H → Q in AAA39888 (PubMed:1889089).Curated

Natural variant

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

ProteinModelPortaliP09084.
SMRiP09084. Positions 93-215.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi202028. 2 interactions.

PTM databases

PhosphoSiteiP09084.

Proteomic databases

PRIDEiP09084.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi5075.
MGIiMGI:97485. Pax1.

Phylogenomic databases

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

Miscellaneous databases

NextBioi294216.
PROiP09084.
SOURCEiSearch...

Gene expression databases

BgeeiP09084.
CleanExiMM_PAX1.
ExpressionAtlasiP09084. baseline and differential.
GenevestigatoriP09084.

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]
ProtoNetiSearch...

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: January 7, 2015
This is version 127 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

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.