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Q02548

- PAX5_HUMAN

UniProt

Q02548 - PAX5_HUMAN

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Protein
Paired box protein Pax-5
Gene
PAX5
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

May play an important role in B-cell differentiation as well as neural development and spermatogenesis. Involved in the regulation of the CD19 gene, a B-lymphoid-specific target gene.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sitei158 – 1592Breakpoint for translocation to form PAX5-ETV6
Sitei260 – 2612Breakpoint for translocation to form PAX5-FOXP1
Sitei303 – 3042Breakpoint for translocation to form PAX5-ZNF521

GO - Molecular functioni

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

GO - Biological processi

  1. humoral immune response Source: ProtInc
  2. multicellular organismal development Source: ProtInc
  3. negative regulation of histone H3-K9 methylation Source: Ensembl
  4. negative regulation of transcription from RNA polymerase II promoter Source: Ensembl
  5. nervous system development Source: UniProtKB-KW
  6. organ morphogenesis Source: ProtInc
  7. positive regulation of transcription from RNA polymerase II promoter Source: Ensembl
  8. skeletal muscle cell differentiation Source: Ensembl
  9. spermatogenesis Source: UniProtKB-KW
  10. transcription from RNA polymerase II promoter Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Differentiation, Neurogenesis, Spermatogenesis, Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

SignaLinkiQ02548.

Names & Taxonomyi

Protein namesi
Recommended name:
Paired box protein Pax-5
Alternative name(s):
B-cell-specific transcription factor
Short name:
BSAP
Gene namesi
Name:PAX5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 9

Organism-specific databases

HGNCiHGNC:8619. PAX5.

Subcellular locationi

GO - Cellular componenti

  1. nucleus Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

A chromosomal aberration involving PAX5 is a cause of acute lymphoblastic leukemia. Translocation t(9;18)(p13;q11.2) with ZNF521. Translocation t(9;3)(p13;p14.1) with FOXP1. Translocation t(9;12)(p13;p13) with ETV6.
Leukemia, acute lymphoblastic, 3 (ALL3) [MIM:613065]: A subtype of acute leukemia, a cancer of the white blood cells. Acute lymphoblastic anemia is a malignant disease of bone marrow and the most common malignancy diagnosed in children. The malignant cells are lymphoid precursor cells (lymphoblasts) that are arrested in an early stage of development. The lymphoblasts replace the normal marrow elements, resulting in a marked decrease in the production of normal blood cells. Consequently, anemia, thrombocytopenia, and neutropenia occur to varying degrees. The lymphoblasts also proliferate in organs other than the marrow, particularly the liver, spleen, and lymphonodes.
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti183 – 1831G → S in ALL3; confers susceptibility to ALL3; reduced transcription factor activity. 1 Publication
VAR_070682

Keywords - Diseasei

Disease mutation, Proto-oncogene

Organism-specific databases

MIMi613065. phenotype.
Orphaneti99860. Precursor B-cell acute lymphoblastic leukemia.
PharmGKBiPA32959.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 391391Paired box protein Pax-5
PRO_0000050183Add
BLAST

Post-translational modificationi

O-glycosylated Inferred.

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiQ02548.
PaxDbiQ02548.
PRIDEiQ02548.

PTM databases

PhosphoSiteiQ02548.

Expressioni

Developmental stagei

Expressed at early B-cell differentiation, in the developing CNS and in adult testis.

Gene expression databases

ArrayExpressiQ02548.
BgeeiQ02548.
CleanExiHS_PAX5.
GenevestigatoriQ02548.

Organism-specific databases

HPAiCAB026269.
CAB026869.

Interactioni

Subunit structurei

Interacts with DAXX By similarity. Binds DNA as a monomer. Binds TLE4. Interacts with ETS1, altering its DNA-binding properties.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
KMT2AQ031642EBI-296331,EBI-2610266

Protein-protein interaction databases

BioGridi111113. 8 interactions.
IntActiQ02548. 4 interactions.
STRINGi9606.ENSP00000350844.

Structurei

Secondary structure

Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi35 – 4612
Helixi51 – 588
Helixi62 – 7514
Beta strandi89 – 913
Helixi93 – 10513
Helixi111 – 12010
Turni126 – 1283
Helixi132 – 1409

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1K78X-ray2.25A/E/I1-149[»]
1MDMX-ray2.80A1-149[»]
ProteinModelPortaliQ02548.
SMRiQ02548. Positions 19-142, 222-281.

Miscellaneous databases

EvolutionaryTraceiQ02548.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini16 – 142127Paired
Add
BLAST

Sequence similaritiesi

Contains 1 paired domain.

Keywords - Domaini

Paired box

Phylogenomic databases

eggNOGiNOG326044.
HOGENOMiHOG000230938.
HOVERGENiHBG009115.
InParanoidiQ02548.
KOiK09383.
OMAiIXIQESP.
OrthoDBiEOG7WT431.
PhylomeDBiQ02548.
TreeFamiTF315397.

Family and domain databases

Gene3Di1.10.10.10. 2 hits.
InterProiIPR009057. Homeodomain-like.
IPR001523. Paired_dom.
IPR022130. Pax2_C.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PfamiPF00292. PAX. 1 hit.
PF12403. Pax2_C. 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]

Sequences (11)i

Sequence statusi: Complete.

This entry describes 11 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q02548-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

MDLEKNYPTP RTSRTGHGGV NQLGGVFVNG RPLPDVVRQR IVELAHQGVR    50
PCDISRQLRV SHGCVSKILG RYYETGSIKP GVIGGSKPKV ATPKVVEKIA 100
EYKRQNPTMF AWEIRDRLLA ERVCDNDTVP SVSSINRIIR TKVQQPPNQP 150
VPASSHSIVS TGSVTQVSSV STDSAGSSYS ISGILGITSP SADTNKRKRD 200
EGIQESPVPN GHSLPGRDFL RKQMRGDLFT QQQLEVLDRV FERQHYSDIF 250
TTTEPIKPEQ TTEYSAMASL AGGLDDMKAN LASPTPADIG SSVPGPQSYP 300
IVTGRDLAST TLPGYPPHVP PAGQGSYSAP TLTGMVPGSE FSGSPYSHPQ 350
YSSYNDSWRF PNPGLLGSPY YYSAAARGAA PPAAATAYDR H 391
Length:391
Mass (Da):42,149
Last modified:October 1, 1993 - v1
Checksum:iDB37E6EACD9F993A
GO
Isoform 2 (identifier: Q02548-2) [UniParc]FASTAAdd to Basket

Also known as: delta9

The sequence of this isoform differs from the canonical sequence as follows:
     338-366: Missing.

Show »
Length:362
Mass (Da):38,890
Checksum:i6570B3D758CC4DFC
GO
Isoform 3 (identifier: Q02548-3) [UniParc]FASTAAdd to Basket

Also known as: delta78

The sequence of this isoform differs from the canonical sequence as follows:
     261-282: TTEYSAMASLAGGLDDMKANLA → GVSFPGVPTATLSIPRTTTPGG
     286-315: PADIGSSVPGPQSYPIVTGRDLASTTLPGY → RGCLAPPIIIALPPEE
     319-391: VPPAGQGSYS...PAAATAYDRH → LQPPLPMTVTDPWSQAGTKH

Show »
Length:324
Mass (Da):35,281
Checksum:iF6A0BFF245B8B965
GO
Isoform 4 (identifier: Q02548-4) [UniParc]FASTAAdd to Basket

Also known as: delta789

The sequence of this isoform differs from the canonical sequence as follows:
     261-315: TTEYSAMASLAGGLDDMKANLASPTPADIGSSVPGPQSYPIVTGRDLASTTLPGY → APPIIIALPPEE
     319-391: VPPAGQGSYS...PAAATAYDRH → LQPPLPMTVTDPWSQAGTKH

Show »
Length:295
Mass (Da):32,471
Checksum:iD5EEA5066EE14214
GO
Isoform 5 (identifier: Q02548-5) [UniParc]FASTAAdd to Basket

Also known as: delta8

The sequence of this isoform differs from the canonical sequence as follows:
     261-391: TTEYSAMASL...PAAATAYDRH → AVTWRARPSPGTLHTSPPLDRAATQHRR

Show »
Length:288
Mass (Da):31,830
Checksum:i38E17187FCE243A4
GO
Isoform 6 (identifier: Q02548-6) [UniParc]FASTAAdd to Basket

Also known as: delta7

The sequence of this isoform differs from the canonical sequence as follows:
     305-349: RDLASTTLPGYPPHVPPAGQGSYSAPTLTGMVPGSEFSGSPYSHP → SEFSGSPYSHP

Show »
Length:357
Mass (Da):38,773
Checksum:iD9002C0265083C8D
GO
Isoform 7 (identifier: Q02548-7) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     304-366: Missing.

Show »
Length:328
Mass (Da):35,514
Checksum:i92D63742F8C95496
GO
Isoform 8 (identifier: Q02548-8) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     159-201: Missing.

Show »
Length:348
Mass (Da):37,834
Checksum:i4A0BED6DADED06FC
GO
Isoform 9 (identifier: Q02548-9) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     159-201: Missing.
     338-366: Missing.

Show »
Length:319
Mass (Da):34,574
Checksum:i9478E6354E6E9B7B
GO
Isoform 10 (identifier: Q02548-10) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     71-136: Missing.
     304-337: Missing.

Show »
Length:291
Mass (Da):31,381
Checksum:i9DA0FDAAE882FD03
GO
Isoform 11 (identifier: Q02548-11) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     261-307: TTEYSAMASL...SYPIVTGRDL → WCPVLMRQYL...LDRAATQHRR
     308-391: Missing.

Show »
Length:307
Mass (Da):34,132
Checksum:i25F6F696F292DC04
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti24 – 241G → R.1 Publication
VAR_070672
Natural varianti26 – 261V → G.1 Publication
VAR_070673
Natural varianti34 – 341P → Q.1 Publication
VAR_070674
Natural varianti53 – 531D → V.1 Publication
VAR_070675
Natural varianti59 – 591R → G.1 Publication
VAR_070676
Natural varianti66 – 661S → N.1 Publication
VAR_070677
Natural varianti75 – 751T → R.1 Publication
VAR_070678
Natural varianti80 – 801P → R.1 Publication
VAR_070679
Natural varianti139 – 1391I → T.1 Publication
VAR_070680
Natural varianti151 – 1511V → I.1 Publication
VAR_070681
Natural varianti183 – 1831G → S in ALL3; confers susceptibility to ALL3; reduced transcription factor activity. 1 Publication
VAR_070682
Natural varianti183 – 1831G → V.1 Publication
VAR_070683
Natural varianti213 – 2131S → L.1 Publication
VAR_070684
Natural varianti301 – 3011I → T.1 Publication
VAR_070685
Natural varianti322 – 3221A → T.
Corresponds to variant rs34810717 [ dbSNP | Ensembl ].
VAR_034370
Natural varianti338 – 3381G → V.1 Publication
VAR_070686

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei71 – 13666Missing in isoform 10.
VSP_047827Add
BLAST
Alternative sequencei159 – 20143Missing in isoform 8 and isoform 9.
VSP_047828Add
BLAST
Alternative sequencei261 – 391131TTEYS…AYDRH → AVTWRARPSPGTLHTSPPLD RAATQHRR in isoform 5.
VSP_044115Add
BLAST
Alternative sequencei261 – 31555TTEYS…TLPGY → APPIIIALPPEE in isoform 4.
VSP_044116Add
BLAST
Alternative sequencei261 – 30747TTEYS…TGRDL → WCPVLMRQYLVQPQAVLFQA VTWRARPSPGTLHTSPPLDR AATQHRR in isoform 11.
VSP_047829Add
BLAST
Alternative sequencei261 – 28222TTEYS…KANLA → GVSFPGVPTATLSIPRTTTP GG in isoform 3.
VSP_044117Add
BLAST
Alternative sequencei286 – 31530PADIG…TLPGY → RGCLAPPIIIALPPEE in isoform 3.
VSP_044118Add
BLAST
Alternative sequencei304 – 36663Missing in isoform 7.
VSP_047830Add
BLAST
Alternative sequencei304 – 33734Missing in isoform 10.
VSP_047831Add
BLAST
Alternative sequencei305 – 34945RDLAS…PYSHP → SEFSGSPYSHP in isoform 6.
VSP_044119Add
BLAST
Alternative sequencei308 – 39184Missing in isoform 11.
VSP_047832Add
BLAST
Alternative sequencei319 – 39173VPPAG…AYDRH → LQPPLPMTVTDPWSQAGTKH in isoform 3 and isoform 4.
VSP_044120Add
BLAST
Alternative sequencei338 – 36629Missing in isoform 2 and isoform 9.
VSP_044121Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti99 – 991I → F in AAC35286. 1 Publication
Sequence conflicti141 – 1433TKV → PKL in AAC35286. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
M96944 mRNA. Translation: AAA58397.1.
AY463952 mRNA. Translation: AAR27590.1.
AY463953 mRNA. Translation: AAR27591.1.
AY463954 mRNA. Translation: AAR27592.1.
AY463955 mRNA. Translation: AAR27593.1.
AY463956 mRNA. Translation: AAR27594.1.
AY463957 mRNA. Translation: AAR27595.1.
FJ626421 mRNA. Translation: ACM91604.1.
FJ626422 mRNA. Translation: ACM91605.1.
FJ626423 mRNA. Translation: ACM91606.1.
FJ626424 mRNA. Translation: ACM91607.1.
FJ626425 mRNA. Translation: ACM91608.1.
EF064717 Genomic DNA. Translation: ABK41900.1.
AL161781, AL450267 Genomic DNA. Translation: CAH72137.1.
AL450267, AL161781 Genomic DNA. Translation: CAH72740.1.
CH471071 Genomic DNA. Translation: EAW58294.1.
CH471071 Genomic DNA. Translation: EAW58295.1.
CH471071 Genomic DNA. Translation: EAW58296.1.
CH471071 Genomic DNA. Translation: EAW58297.1.
CH471071 Genomic DNA. Translation: EAW58298.1.
CH471071 Genomic DNA. Translation: EAW58299.1.
DQ841178 mRNA. Translation: ABI30005.1. Different termination.
DQ845345 mRNA. Translation: ABI33104.1. Different termination.
DQ845346 mRNA. Translation: ABI33105.1. Different termination.
AF080573 mRNA. Translation: AAC35286.1.
CCDSiCCDS65041.1. [Q02548-10]
CCDS65042.1. [Q02548-9]
CCDS65043.1. [Q02548-8]
CCDS65044.1. [Q02548-4]
CCDS65045.1. [Q02548-3]
CCDS65046.1. [Q02548-7]
CCDS65047.1. [Q02548-6]
CCDS65048.1. [Q02548-2]
CCDS6607.1. [Q02548-1]
PIRiA44063.
RefSeqiNP_001267476.1. NM_001280547.1. [Q02548-6]
NP_001267477.1. NM_001280548.1. [Q02548-2]
NP_001267478.1. NM_001280549.1.
NP_001267479.1. NM_001280550.1.
NP_001267481.1. NM_001280552.1. [Q02548-7]
NP_001267482.1. NM_001280553.1. [Q02548-9]
NP_001267483.1. NM_001280554.1. [Q02548-8]
NP_001267484.1. NM_001280555.1. [Q02548-10]
NP_001267485.1. NM_001280556.1.
NP_057953.1. NM_016734.2. [Q02548-1]
UniGeneiHs.654464.

Genome annotation databases

EnsembliENST00000358127; ENSP00000350844; ENSG00000196092. [Q02548-1]
ENST00000377840; ENSP00000367071; ENSG00000196092. [Q02548-5]
ENST00000377847; ENSP00000367078; ENSG00000196092. [Q02548-7]
ENST00000377852; ENSP00000367083; ENSG00000196092. [Q02548-6]
ENST00000377853; ENSP00000367084; ENSG00000196092. [Q02548-2]
ENST00000414447; ENSP00000412188; ENSG00000196092. [Q02548-8]
ENST00000446742; ENSP00000404687; ENSG00000196092. [Q02548-10]
ENST00000520281; ENSP00000430773; ENSG00000196092. [Q02548-9]
ENST00000523493; ENSP00000431038; ENSG00000196092. [Q02548-11]
GeneIDi5079.
KEGGihsa:5079.
UCSCiuc003zzo.1. human. [Q02548-1]
uc010mlo.1. human. [Q02548-6]
uc010mlp.1. human. [Q02548-2]

Polymorphism databases

DMDMi417449.

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, Polymorphism

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
M96944 mRNA. Translation: AAA58397.1 .
AY463952 mRNA. Translation: AAR27590.1 .
AY463953 mRNA. Translation: AAR27591.1 .
AY463954 mRNA. Translation: AAR27592.1 .
AY463955 mRNA. Translation: AAR27593.1 .
AY463956 mRNA. Translation: AAR27594.1 .
AY463957 mRNA. Translation: AAR27595.1 .
FJ626421 mRNA. Translation: ACM91604.1 .
FJ626422 mRNA. Translation: ACM91605.1 .
FJ626423 mRNA. Translation: ACM91606.1 .
FJ626424 mRNA. Translation: ACM91607.1 .
FJ626425 mRNA. Translation: ACM91608.1 .
EF064717 Genomic DNA. Translation: ABK41900.1 .
AL161781 , AL450267 Genomic DNA. Translation: CAH72137.1 .
AL450267 , AL161781 Genomic DNA. Translation: CAH72740.1 .
CH471071 Genomic DNA. Translation: EAW58294.1 .
CH471071 Genomic DNA. Translation: EAW58295.1 .
CH471071 Genomic DNA. Translation: EAW58296.1 .
CH471071 Genomic DNA. Translation: EAW58297.1 .
CH471071 Genomic DNA. Translation: EAW58298.1 .
CH471071 Genomic DNA. Translation: EAW58299.1 .
DQ841178 mRNA. Translation: ABI30005.1 . Different termination.
DQ845345 mRNA. Translation: ABI33104.1 . Different termination.
DQ845346 mRNA. Translation: ABI33105.1 . Different termination.
AF080573 mRNA. Translation: AAC35286.1 .
CCDSi CCDS65041.1. [Q02548-10 ]
CCDS65042.1. [Q02548-9 ]
CCDS65043.1. [Q02548-8 ]
CCDS65044.1. [Q02548-4 ]
CCDS65045.1. [Q02548-3 ]
CCDS65046.1. [Q02548-7 ]
CCDS65047.1. [Q02548-6 ]
CCDS65048.1. [Q02548-2 ]
CCDS6607.1. [Q02548-1 ]
PIRi A44063.
RefSeqi NP_001267476.1. NM_001280547.1. [Q02548-6 ]
NP_001267477.1. NM_001280548.1. [Q02548-2 ]
NP_001267478.1. NM_001280549.1.
NP_001267479.1. NM_001280550.1.
NP_001267481.1. NM_001280552.1. [Q02548-7 ]
NP_001267482.1. NM_001280553.1. [Q02548-9 ]
NP_001267483.1. NM_001280554.1. [Q02548-8 ]
NP_001267484.1. NM_001280555.1. [Q02548-10 ]
NP_001267485.1. NM_001280556.1.
NP_057953.1. NM_016734.2. [Q02548-1 ]
UniGenei Hs.654464.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
1K78 X-ray 2.25 A/E/I 1-149 [» ]
1MDM X-ray 2.80 A 1-149 [» ]
ProteinModelPortali Q02548.
SMRi Q02548. Positions 19-142, 222-281.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 111113. 8 interactions.
IntActi Q02548. 4 interactions.
STRINGi 9606.ENSP00000350844.

PTM databases

PhosphoSitei Q02548.

Polymorphism databases

DMDMi 417449.

Proteomic databases

MaxQBi Q02548.
PaxDbi Q02548.
PRIDEi Q02548.

Protocols and materials databases

DNASUi 5079.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000358127 ; ENSP00000350844 ; ENSG00000196092 . [Q02548-1 ]
ENST00000377840 ; ENSP00000367071 ; ENSG00000196092 . [Q02548-5 ]
ENST00000377847 ; ENSP00000367078 ; ENSG00000196092 . [Q02548-7 ]
ENST00000377852 ; ENSP00000367083 ; ENSG00000196092 . [Q02548-6 ]
ENST00000377853 ; ENSP00000367084 ; ENSG00000196092 . [Q02548-2 ]
ENST00000414447 ; ENSP00000412188 ; ENSG00000196092 . [Q02548-8 ]
ENST00000446742 ; ENSP00000404687 ; ENSG00000196092 . [Q02548-10 ]
ENST00000520281 ; ENSP00000430773 ; ENSG00000196092 . [Q02548-9 ]
ENST00000523493 ; ENSP00000431038 ; ENSG00000196092 . [Q02548-11 ]
GeneIDi 5079.
KEGGi hsa:5079.
UCSCi uc003zzo.1. human. [Q02548-1 ]
uc010mlo.1. human. [Q02548-6 ]
uc010mlp.1. human. [Q02548-2 ]

Organism-specific databases

CTDi 5079.
GeneCardsi GC09M036828.
HGNCi HGNC:8619. PAX5.
HPAi CAB026269.
CAB026869.
MIMi 167414. gene.
613065. phenotype.
neXtProti NX_Q02548.
Orphaneti 99860. Precursor B-cell acute lymphoblastic leukemia.
PharmGKBi PA32959.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG326044.
HOGENOMi HOG000230938.
HOVERGENi HBG009115.
InParanoidi Q02548.
KOi K09383.
OMAi IXIQESP.
OrthoDBi EOG7WT431.
PhylomeDBi Q02548.
TreeFami TF315397.

Enzyme and pathway databases

SignaLinki Q02548.

Miscellaneous databases

ChiTaRSi PAX5. human.
EvolutionaryTracei Q02548.
GeneWikii PAX5.
GenomeRNAii 5079.
NextBioi 19592.
PROi Q02548.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q02548.
Bgeei Q02548.
CleanExi HS_PAX5.
Genevestigatori Q02548.

Family and domain databases

Gene3Di 1.10.10.10. 2 hits.
InterProi IPR009057. Homeodomain-like.
IPR001523. Paired_dom.
IPR022130. Pax2_C.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view ]
Pfami PF00292. PAX. 1 hit.
PF12403. Pax2_C. 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. "Pax-5 encodes the transcription factor BSAP and is expressed in B lymphocytes, the developing CNS, and adult testis."
    Adams B., Doerfler P., Aguzzi A., Kozmik Z., Urbanek P., Maurer-Fogy I., Busslinger M.
    Genes Dev. 6:1589-1607(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  2. "Human Pax-5 C-terminal isoforms possess distinct transactivation properties and are differentially modulated in normal and malignant B cells."
    Robichaud G.A., Nardini M., Laflamme M., Cuperlovic-Culf M., Ouellette R.J.
    J. Biol. Chem. 279:49956-49963(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3; 4; 5 AND 6), ALTERNATIVE SPLICING.
  3. "Multiple isoforms of PAX5 are expressed in both lymphomas and normal B-cells."
    Arseneau J.R., Laflamme M., Lewis S.M., Maicas E., Ouellette R.J.
    Br. J. Haematol. 147:328-338(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 7; 8; 9; 10 AND 11).
  4. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  5. "DNA sequence and analysis of human chromosome 9."
    Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
    , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
    Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-333 (ISOFORM 1), CHROMOSOMAL TRANSLOCATION WITH ZNF521, CHROMOSOMAL TRANSLOCATION WITH FOXP1, CHROMOSOMAL TRANSLOCATION WITH ETV6.
  8. "Isolation of genes negatively or positively co-expressed with human recombination activating gene 1 (RAG1) by differential display PCR (DD RT-PCR)."
    Verkoczy L.K., Berinstein N.L.
    Nucleic Acids Res. 26:4497-4507(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 62-197.
  9. "Transcriptional repression by Pax5 (BSAP) through interaction with corepressors of the Groucho family."
    Eberhard D., Jimenez G., Heavey B., Busslinger M.
    EMBO J. 19:2292-2303(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH TLE4.
  10. "Structural studies of Ets-1/Pax5 complex formation on DNA."
    Garvie C.W., Hagman J., Wolberger C.
    Mol. Cell 8:1267-1276(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (2.25 ANGSTROMS) OF 1-149 IN COMPLEX WITH MOUSE ETS1 AND DNA.
  11. "A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia."
    Shah S., Schrader K.A., Waanders E., Timms A.E., Vijai J., Miething C., Wechsler J., Yang J., Hayes J., Klein R.J., Zhang J., Wei L., Wu G., Rusch M., Nagahawatte P., Ma J., Chen S.C., Song G.
    , Cheng J., Meyers P., Bhojwani D., Jhanwar S., Maslak P., Fleisher M., Littman J., Offit L., Rau-Murthy R., Fleischut M.H., Corines M., Murali R., Gao X., Manschreck C., Kitzing T., Murty V.V., Raimondi S.C., Kuiper R.P., Simons A., Schiffman J.D., Onel K., Plon S.E., Wheeler D.A., Ritter D., Ziegler D.S., Tucker K., Sutton R., Chenevix-Trench G., Li J., Huntsman D.G., Hansford S., Senz J., Walsh T., Lee M., Hahn C.N., Roberts K.G., King M.C., Lo S.M., Levine R.L., Viale A., Socci N.D., Nathanson K.L., Scott H.S., Daly M., Lipkin S.M., Lowe S.W., Downing J.R., Altshuler D., Sandlund J.T., Horwitz M.S., Mullighan C.G., Offit K.
    Nat. Genet. 45:1226-1231(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ALL3 SER-183, VARIANTS ARG-24; GLY-26; GLN-34; VAL-53; GLY-59; ASN-66; ARG-75; ARG-80; THR-139; ILE-151; VAL-183; LEU-213; THR-301 AND VAL-338, CHARACTERIZATION OF VARIANT ALL3 SER-183.

Entry informationi

Entry nameiPAX5_HUMAN
AccessioniPrimary (citable) accession number: Q02548
Secondary accession number(s): A3QVP6
, A3QVP7, A3QVP8, C0KTF6, C0KTF7, C0KTF8, C0KTF9, C0KTG0, O75933, Q5SFM2, Q6S728, Q6S729, Q6S730, Q6S731, Q6S732
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1993
Last sequence update: October 1, 1993
Last modified: September 3, 2014
This is version 135 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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