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Q02548 (PAX5_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 131. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Paired box protein Pax-5
Alternative name(s):
B-cell-specific transcription factor
Short name=BSAP
Gene names
Name:PAX5
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length391 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subunit structure

Interacts with DAXX By similarity. Binds DNA as a monomer. Binds TLE4. Interacts with ETS1, altering its DNA-binding properties. Ref.9

Subcellular location

Nucleus.

Developmental stage

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

Post-translational modification

O-glycosylated Probable.

Involvement in disease

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. Ref.11

Sequence similarities

Contains 1 paired domain.

Ontologies

Keywords
   Biological processDifferentiation
Neurogenesis
Spermatogenesis
Transcription
Transcription regulation
   Cellular componentNucleus
   Coding sequence diversityAlternative splicing
Chromosomal rearrangement
Polymorphism
   DiseaseDisease mutation
Proto-oncogene
   DomainPaired box
   LigandDNA-binding
   Molecular functionDevelopmental protein
   PTMGlycoprotein
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processhumoral immune response

Traceable author statement PubMed 10524629. Source: ProtInc

multicellular organismal development

Traceable author statement PubMed 10524629. Source: ProtInc

negative regulation of histone H3-K9 methylation

Inferred from electronic annotation. Source: Ensembl

negative regulation of transcription from RNA polymerase II promoter

Inferred from electronic annotation. Source: Ensembl

nervous system development

Inferred from electronic annotation. Source: UniProtKB-KW

organ morphogenesis

Traceable author statement PubMed 10524622. Source: ProtInc

positive regulation of transcription from RNA polymerase II promoter

Inferred from electronic annotation. Source: Ensembl

skeletal muscle cell differentiation

Inferred from electronic annotation. Source: Ensembl

spermatogenesis

Inferred from electronic annotation. Source: UniProtKB-KW

transcription from RNA polymerase II promoter

Traceable author statement PubMed 10524622. Source: ProtInc

   Cellular_componentnucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionDNA binding

Inferred from electronic annotation. Source: UniProtKB-KW

sequence-specific DNA binding transcription factor activity

Inferred from electronic annotation. Source: Ensembl

Complete GO annotation...

Alternative products

This entry describes 11 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q02548-1)

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.
Isoform 2 (identifier: Q02548-2)

Also known as: delta9;

The sequence of this isoform differs from the canonical sequence as follows:
     338-366: Missing.
Isoform 3 (identifier: Q02548-3)

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
Isoform 4 (identifier: Q02548-4)

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
Isoform 5 (identifier: Q02548-5)

Also known as: delta8;

The sequence of this isoform differs from the canonical sequence as follows:
     261-391: TTEYSAMASL...PAAATAYDRH → AVTWRARPSPGTLHTSPPLDRAATQHRR
Isoform 6 (identifier: Q02548-6)

Also known as: delta7;

The sequence of this isoform differs from the canonical sequence as follows:
     305-349: RDLASTTLPGYPPHVPPAGQGSYSAPTLTGMVPGSEFSGSPYSHP → SEFSGSPYSHP
Isoform 7 (identifier: Q02548-7)

The sequence of this isoform differs from the canonical sequence as follows:
     304-366: Missing.
Isoform 8 (identifier: Q02548-8)

The sequence of this isoform differs from the canonical sequence as follows:
     159-201: Missing.
Isoform 9 (identifier: Q02548-9)

The sequence of this isoform differs from the canonical sequence as follows:
     159-201: Missing.
     338-366: Missing.
Isoform 10 (identifier: Q02548-10)

The sequence of this isoform differs from the canonical sequence as follows:
     71-136: Missing.
     304-337: Missing.
Isoform 11 (identifier: Q02548-11)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 391391Paired box protein Pax-5
PRO_0000050183

Regions

Domain16 – 142127Paired

Sites

Site158 – 1592Breakpoint for translocation to form PAX5-ETV6
Site260 – 2612Breakpoint for translocation to form PAX5-FOXP1
Site303 – 3042Breakpoint for translocation to form PAX5-ZNF521

Natural variations

Alternative sequence71 – 13666Missing in isoform 10.
VSP_047827
Alternative sequence159 – 20143Missing in isoform 8 and isoform 9.
VSP_047828
Alternative sequence261 – 391131TTEYS…AYDRH → AVTWRARPSPGTLHTSPPLD RAATQHRR in isoform 5.
VSP_044115
Alternative sequence261 – 31555TTEYS…TLPGY → APPIIIALPPEE in isoform 4.
VSP_044116
Alternative sequence261 – 30747TTEYS…TGRDL → WCPVLMRQYLVQPQAVLFQA VTWRARPSPGTLHTSPPLDR AATQHRR in isoform 11.
VSP_047829
Alternative sequence261 – 28222TTEYS…KANLA → GVSFPGVPTATLSIPRTTTP GG in isoform 3.
VSP_044117
Alternative sequence286 – 31530PADIG…TLPGY → RGCLAPPIIIALPPEE in isoform 3.
VSP_044118
Alternative sequence304 – 36663Missing in isoform 7.
VSP_047830
Alternative sequence304 – 33734Missing in isoform 10.
VSP_047831
Alternative sequence305 – 34945RDLAS…PYSHP → SEFSGSPYSHP in isoform 6.
VSP_044119
Alternative sequence308 – 39184Missing in isoform 11.
VSP_047832
Alternative sequence319 – 39173VPPAG…AYDRH → LQPPLPMTVTDPWSQAGTKH in isoform 3 and isoform 4.
VSP_044120
Alternative sequence338 – 36629Missing in isoform 2 and isoform 9.
VSP_044121
Natural variant241G → R. Ref.11
VAR_070672
Natural variant261V → G. Ref.11
VAR_070673
Natural variant341P → Q. Ref.11
VAR_070674
Natural variant531D → V. Ref.11
VAR_070675
Natural variant591R → G. Ref.11
VAR_070676
Natural variant661S → N. Ref.11
VAR_070677
Natural variant751T → R. Ref.11
VAR_070678
Natural variant801P → R. Ref.11
VAR_070679
Natural variant1391I → T. Ref.11
VAR_070680
Natural variant1511V → I. Ref.11
VAR_070681
Natural variant1831G → S in ALL3; confers susceptibility to ALL3; reduced transcription factor activity. Ref.11
VAR_070682
Natural variant1831G → V. Ref.11
VAR_070683
Natural variant2131S → L. Ref.11
VAR_070684
Natural variant3011I → T. Ref.11
VAR_070685
Natural variant3221A → T.
Corresponds to variant rs34810717 [ dbSNP | Ensembl ].
VAR_034370
Natural variant3381G → V. Ref.11
VAR_070686

Experimental info

Sequence conflict991I → F in AAC35286. Ref.8
Sequence conflict141 – 1433TKV → PKL in AAC35286. Ref.8

Secondary structure

................. 391
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 1, 1993. Version 1.
Checksum: DB37E6EACD9F993A

FASTA39142,149
        10         20         30         40         50         60 
MDLEKNYPTP RTSRTGHGGV NQLGGVFVNG RPLPDVVRQR IVELAHQGVR PCDISRQLRV 

        70         80         90        100        110        120 
SHGCVSKILG RYYETGSIKP GVIGGSKPKV ATPKVVEKIA EYKRQNPTMF AWEIRDRLLA 

       130        140        150        160        170        180 
ERVCDNDTVP SVSSINRIIR TKVQQPPNQP VPASSHSIVS TGSVTQVSSV STDSAGSSYS 

       190        200        210        220        230        240 
ISGILGITSP SADTNKRKRD EGIQESPVPN GHSLPGRDFL RKQMRGDLFT QQQLEVLDRV 

       250        260        270        280        290        300 
FERQHYSDIF TTTEPIKPEQ TTEYSAMASL AGGLDDMKAN LASPTPADIG SSVPGPQSYP 

       310        320        330        340        350        360 
IVTGRDLAST TLPGYPPHVP PAGQGSYSAP TLTGMVPGSE FSGSPYSHPQ YSSYNDSWRF 

       370        380        390 
PNPGLLGSPY YYSAAARGAA PPAAATAYDR H 

« Hide

Isoform 2 (delta9) [UniParc].

Checksum: 6570B3D758CC4DFC
Show »

FASTA36238,890
Isoform 3 (delta78) [UniParc].

Checksum: F6A0BFF245B8B965
Show »

FASTA32435,281
Isoform 4 (delta789) [UniParc].

Checksum: D5EEA5066EE14214
Show »

FASTA29532,471
Isoform 5 (delta8) [UniParc].

Checksum: 38E17187FCE243A4
Show »

FASTA28831,830
Isoform 6 (delta7) [UniParc].

Checksum: D9002C0265083C8D
Show »

FASTA35738,773
Isoform 7 [UniParc].

Checksum: 92D63742F8C95496
Show »

FASTA32835,514
Isoform 8 [UniParc].

Checksum: 4A0BED6DADED06FC
Show »

FASTA34837,834
Isoform 9 [UniParc].

Checksum: 9478E6354E6E9B7B
Show »

FASTA31934,574
Isoform 10 [UniParc].

Checksum: 9DA0FDAAE882FD03
Show »

FASTA29131,381
Isoform 11 [UniParc].

Checksum: 25F6F696F292DC04
Show »

FASTA30734,132

References

« Hide 'large scale' references
[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]Livingston R.J., Shaffer T., McFarland I., Nguyen C.P., Stanaway I.B., Rajkumar N., Johnson E.J., da Ponte S.H., Willa H., Ahearn M.O., Bertucci C., Acklestad J., Carroll A., Swanson J., Gildersleeve H.I., Nickerson D.A.
Submitted (OCT-2006) to the EMBL/GenBank/DDBJ databases
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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]"Genome-wide analysis of genetic alterations in acute lymphoblastic leukaemia."
Mullighan C.G., Goorha S., Radtke I., Miller C.B., Coustan-Smith E., Dalton J.D., Girtman K., Mathew S., Ma J., Pounds S.B., Su X., Pui C.-H., Relling M.V., Evans W.E., Shurtleff S.A., Downing J.R.
Nature 446:758-764(2007) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
PIRA44063.
RefSeqNP_001267476.1. NM_001280547.1.
NP_001267477.1. NM_001280548.1.
NP_001267478.1. NM_001280549.1.
NP_001267479.1. NM_001280550.1.
NP_001267481.1. NM_001280552.1.
NP_001267482.1. NM_001280553.1.
NP_001267483.1. NM_001280554.1.
NP_001267484.1. NM_001280555.1.
NP_001267485.1. NM_001280556.1.
NP_057953.1. NM_016734.2.
UniGeneHs.654464.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
1K78X-ray2.25A/E/I1-149[»]
1MDMX-ray2.80A1-149[»]
ProteinModelPortalQ02548.
SMRQ02548. Positions 19-142, 228-278.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid111113. 8 interactions.
IntActQ02548. 2 interactions.
STRING9606.ENSP00000350844.

PTM databases

PhosphoSiteQ02548.

Polymorphism databases

DMDM417449.

Proteomic databases

PaxDbQ02548.
PRIDEQ02548.

Protocols and materials databases

DNASU5079.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000358127; 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]
GeneID5079.
KEGGhsa:5079.
UCSCuc003zzo.1. human. [Q02548-1]
uc010mlo.1. human. [Q02548-6]
uc010mlp.1. human. [Q02548-2]

Organism-specific databases

CTD5079.
GeneCardsGC09M036828.
HGNCHGNC:8619. PAX5.
HPACAB026269.
CAB026869.
MIM167414. gene.
613065. phenotype.
neXtProtNX_Q02548.
Orphanet99860. Precursor B-cell acute lymphoblastic leukemia.
PharmGKBPA32959.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG326044.
HOGENOMHOG000230938.
HOVERGENHBG009115.
InParanoidQ02548.
KOK09383.
OMAIXIQESP.
OrthoDBEOG7WT431.
PhylomeDBQ02548.
TreeFamTF315397.

Enzyme and pathway databases

SignaLinkQ02548.

Gene expression databases

ArrayExpressQ02548.
BgeeQ02548.
CleanExHS_PAX5.
GenevestigatorQ02548.

Family and domain databases

Gene3D1.10.10.10. 2 hits.
InterProIPR009057. Homeodomain-like.
IPR001523. Paired_dom.
IPR022130. Pax2_C.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PfamPF00292. PAX. 1 hit.
PF12403. Pax2_C. 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.
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Other

ChiTaRSPAX5. human.
EvolutionaryTraceQ02548.
GeneWikiPAX5.
GenomeRNAi5079.
NextBio19592.
PROQ02548.
SOURCESearch...

Entry information

Entry namePAX5_HUMAN
AccessionPrimary (citable) accession number: Q02548
Secondary accession number(s): A3QVP6 expand/collapse secondary AC list , A3QVP7, A3QVP8, C0KTF6, C0KTF7, C0KTF8, C0KTF9, C0KTG0, O75933, Q5SFM2, Q6S728, Q6S729, Q6S730, Q6S731, Q6S732
Entry history
Integrated into UniProtKB/Swiss-Prot: October 1, 1993
Last sequence update: October 1, 1993
Last modified: April 16, 2014
This is version 131 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 9

Human chromosome 9: entries, gene names and cross-references to MIM