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Protein

Paired box protein Pax-5

Gene

PAX5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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

GO - Biological processi

  • humoral immune response Source: ProtInc
  • multicellular organismal development Source: ProtInc
  • negative regulation of histone H3-K9 methylation Source: Ensembl
  • negative regulation of transcription from RNA polymerase II promoter Source: Ensembl
  • nervous system development Source: UniProtKB-KW
  • organ morphogenesis Source: ProtInc
  • skeletal muscle cell differentiation Source: Ensembl
  • spermatogenesis Source: UniProtKB-KW
  • 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 Componenti: Chromosome 9

Organism-specific databases

HGNCiHGNC:8619. PAX5.

Subcellular locationi

GO - Cellular componenti

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)1 Publication

Disease susceptibility is associated with variations affecting the gene represented in this entry.

Disease descriptionA 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.

See also OMIM:613065
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.

Polymorphism and mutation databases

BioMutaiPAX5.
DMDMi417449.

PTM / Processingi

Molecule processing

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

Post-translational modificationi

O-glycosylated.Curated

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

BgeeiQ02548.
CleanExiHS_PAX5.
ExpressionAtlasiQ02548. baseline and differential.
GenevestigatoriQ02548.

Organism-specific databases

HPAiCAB026269.
CAB026869.
HPA056394.

Interactioni

Subunit structurei

Interacts with DAXX (By similarity). Binds DNA as a monomer. Binds TLE4. Interacts with ETS1, altering its DNA-binding properties.By similarity2 Publications

Binary interactionsi

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

Protein-protein interaction databases

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

Structurei

Secondary structure

1
391
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi35 – 4612Combined sources
Helixi51 – 588Combined sources
Helixi62 – 7514Combined sources
Beta strandi89 – 913Combined sources
Helixi93 – 10513Combined sources
Helixi111 – 12010Combined sources
Turni126 – 1283Combined sources
Helixi132 – 1409Combined sources

3D structure databases

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

Miscellaneous databases

EvolutionaryTraceiQ02548.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini16 – 142127PairedPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 1 paired domain.PROSITE-ProRule annotation

Keywords - Domaini

Paired box

Phylogenomic databases

eggNOGiNOG326044.
GeneTreeiENSGT00680000099553.
HOGENOMiHOG000230939.
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. AlignAdd to basket

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

        10         20         30         40         50
MDLEKNYPTP RTSRTGHGGV NQLGGVFVNG RPLPDVVRQR IVELAHQGVR
60 70 80 90 100
PCDISRQLRV SHGCVSKILG RYYETGSIKP GVIGGSKPKV ATPKVVEKIA
110 120 130 140 150
EYKRQNPTMF AWEIRDRLLA ERVCDNDTVP SVSSINRIIR TKVQQPPNQP
160 170 180 190 200
VPASSHSIVS TGSVTQVSSV STDSAGSSYS ISGILGITSP SADTNKRKRD
210 220 230 240 250
EGIQESPVPN GHSLPGRDFL RKQMRGDLFT QQQLEVLDRV FERQHYSDIF
260 270 280 290 300
TTTEPIKPEQ TTEYSAMASL AGGLDDMKAN LASPTPADIG SSVPGPQSYP
310 320 330 340 350
IVTGRDLAST TLPGYPPHVP PAGQGSYSAP TLTGMVPGSE FSGSPYSHPQ
360 370 380 390
YSSYNDSWRF PNPGLLGSPY YYSAAARGAA PPAAATAYDR H
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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti99 – 991I → F in AAC35286 (PubMed:9742255).Curated
Sequence conflicti141 – 1433TKV → PKL in AAC35286 (PubMed:9742255).Curated

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. 1 PublicationVSP_047827Add
BLAST
Alternative sequencei159 – 20143Missing in isoform 8 and isoform 9. 1 PublicationVSP_047828Add
BLAST
Alternative sequencei261 – 391131TTEYS…AYDRH → AVTWRARPSPGTLHTSPPLD RAATQHRR in isoform 5. 1 PublicationVSP_044115Add
BLAST
Alternative sequencei261 – 31555TTEYS…TLPGY → APPIIIALPPEE in isoform 4. 1 PublicationVSP_044116Add
BLAST
Alternative sequencei261 – 30747TTEYS…TGRDL → WCPVLMRQYLVQPQAVLFQA VTWRARPSPGTLHTSPPLDR AATQHRR in isoform 11. 1 PublicationVSP_047829Add
BLAST
Alternative sequencei261 – 28222TTEYS…KANLA → GVSFPGVPTATLSIPRTTTP GG in isoform 3. 1 PublicationVSP_044117Add
BLAST
Alternative sequencei286 – 31530PADIG…TLPGY → RGCLAPPIIIALPPEE in isoform 3. 1 PublicationVSP_044118Add
BLAST
Alternative sequencei304 – 36663Missing in isoform 7. 1 PublicationVSP_047830Add
BLAST
Alternative sequencei304 – 33734Missing in isoform 10. 1 PublicationVSP_047831Add
BLAST
Alternative sequencei305 – 34945RDLAS…PYSHP → SEFSGSPYSHP in isoform 6. 1 PublicationVSP_044119Add
BLAST
Alternative sequencei308 – 39184Missing in isoform 11. 1 PublicationVSP_047832Add
BLAST
Alternative sequencei319 – 39173VPPAG…AYDRH → LQPPLPMTVTDPWSQAGTKH in isoform 3 and isoform 4. 1 PublicationVSP_044120Add
BLAST
Alternative sequencei338 – 36629Missing in isoform 2 and isoform 9. 2 PublicationsVSP_044121Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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]
uc011lpw.1. human.
uc011lpx.1. human.
uc011lpz.1. human.
uc011lqc.1. human.

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:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

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

Protein-protein interaction databases

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

PTM databases

PhosphoSiteiQ02548.

Polymorphism and mutation databases

BioMutaiPAX5.
DMDMi417449.

Proteomic databases

MaxQBiQ02548.
PaxDbiQ02548.
PRIDEiQ02548.

Protocols and materials databases

DNASUi5079.
Structural Biology KnowledgebaseSearch...

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]
uc011lpw.1. human.
uc011lpx.1. human.
uc011lpz.1. human.
uc011lqc.1. human.

Organism-specific databases

CTDi5079.
GeneCardsiGC09M036828.
HGNCiHGNC:8619. PAX5.
HPAiCAB026269.
CAB026869.
HPA056394.
MIMi167414. gene.
613065. phenotype.
neXtProtiNX_Q02548.
Orphaneti99860. Precursor B-cell acute lymphoblastic leukemia.
PharmGKBiPA32959.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG326044.
GeneTreeiENSGT00680000099553.
HOGENOMiHOG000230939.
HOVERGENiHBG009115.
InParanoidiQ02548.
KOiK09383.
OMAiIXIQESP.
OrthoDBiEOG7WT431.
PhylomeDBiQ02548.
TreeFamiTF315397.

Enzyme and pathway databases

SignaLinkiQ02548.

Miscellaneous databases

ChiTaRSiPAX5. human.
EvolutionaryTraceiQ02548.
GeneWikiiPAX5.
GenomeRNAii5079.
NextBioi19592.
PROiQ02548.
SOURCEiSearch...

Gene expression databases

BgeeiQ02548.
CleanExiHS_PAX5.
ExpressionAtlasiQ02548. baseline and differential.
GenevestigatoriQ02548.

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]
ProtoNetiSearch...

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: May 27, 2015
This is version 143 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

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.