Paired box protein Pax-5 - Homo sapiens (Human)

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Reviewed, UniProtKB/Swiss-Prot Q02548 (PAX5_HUMAN)

Last modified February 9, 2010. Version 96. History...

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Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

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Names and origin

Protein names

Recommended name:
    Paired box protein Pax-5
Alternative name(s):
    B-cell-specific transcription factor
      Short name=BSAP

Gene names

Name:

PAX5

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Protein attributes

Sequence length	391 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level.

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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. Ref.4
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.
Sequence similarities	Contains 1 paired domain.

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Ontologies

Keywords
Biological process	Differentiation Neurogenesis Spermatogenesis Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Chromosomal rearrangement Polymorphism
Disease	Proto-oncogene
Domain	Paired box
Ligand	DNA-binding
Molecular function	Developmental protein
PTM	Glycoprotein
Technical term	3D-structure Complete proteome
Gene Ontology (GO)
Biological process	cell differentiation Inferred from electronic annotation. Source: UniProtKB-KW humoral immune response Traceable author statement. Source: ProtInc nervous system development Inferred from electronic annotation. Source: UniProtKB-KW organ morphogenesis Traceable author statement. Source: ProtInc spermatogenesis Inferred from electronic annotation. Source: UniProtKB-KW transcription from RNA polymerase II promoter Traceable author statement. Source: ProtInc
Cellular component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

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Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 391

391

Paired box protein Pax-5

PRO_0000050183

Regions

Domain

16 – 142

127

Paired

Sites

Site

158 – 159

Breakpoint for translocation to form PAX5-ETV6

Site

260 – 261

Breakpoint for translocation to form PAX5-FOXP1

Site

303 – 304

Breakpoint for translocation to form PAX5-ZNF521

Natural variations

Natural variant

322

A → T: dbSNP rs34810717.

VAR_034370

Experimental info

Sequence conflict

I → F in AAC35286. Ref.3

Sequence conflict

141 – 143

TKV → PKL in AAC35286. Ref.3

Secondary structure

391

Helix Strand Turn

Details...

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Sequences

Sequence

Length

Mass (Da)

Tools

Q02548-1 [UniParc].

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

391

42,149

        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

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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: 1516825] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]	"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: 17344859] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-333, CHROMOSOMAL TRANSLOCATION WITH ZNF521, CHROMOSOMAL TRANSLOCATION WITH FOXP1, CHROMOSOMAL TRANSLOCATION WITH ETV6.
[3]	"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: 9742255] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 62-197.
[4]	"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: 10811620] [Abstract] Cited for: INTERACTION WITH TLE4.
+	Additional computationally mapped references.

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Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

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Cross-references

Sequence databases

EMBL
GenBank
DDBJ

M96944 mRNA. Translation: AAA58397.1.
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.

IPI

IPI00026209.

PIR

A44063.

RefSeq

NP_057953.1.

UniGene

Hs.654464

3D structure databases

PDBe
RCSB PDB
PDBj

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	[»]

SMR

Q02548. Positions 94-254.

ModBase

Search...

Protein-protein interaction databases

STRING

Q02548.

PTM databases

PhosphoSite

Q02548.

Proteomic databases

PRIDE

Q02548.

Genome annotation databases

Ensembl

ENST00000358127; ENSP00000350844; ENSG00000196092; Homo sapiens. [Genome view]

GeneID

5079.

KEGG

hsa:5079.

UCSC

uc003zzo.1. human.

Organism-specific databases

CTD

5079.

GeneCards

GC09M036828.

H-InvDB

HIX0034757.

HGNC

HGNC:8619. PAX5.

HPA

CAB026269.
CAB026869.

MIM

167414. gene.

PharmGKB

PA32959.

GenAtlas

Search...

Phylogenomic databases

eggNOG

prNOG10787.

HOGENOM

HBG714463.

HOVERGEN

Q02548.

InParanoid

Q02548.

OMA

TGMVPGD.

Gene expression databases

ArrayExpress

Q02548.

Bgee

Q02548.

CleanEx

HS_PAX5.

Genevestigator

Q02548.

GermOnline

ENSG00000196092. Homo sapiens.

Family and domain databases

InterPro

IPR009057. Homeodomain-like.
IPR001523. Paired_box_N.
IPR011991. WHTH_trsnscrt_rep_DNA-bd.
[Graphical view]

Gene3D

G3DSA:1.10.10.10. Wing_hlx_DNA_bd. 2 hits.

Pfam

PF00292. PAX. 1 hit.
[Graphical view]

PRINTS

PR00027. PAIREDBOX.

SMART

SM00351. PAX. 1 hit.
[Graphical view]

PROSITE

PS00034. PAIRED_1. 1 hit.
PS51057. PAIRED_2. 1 hit.
[Graphical view]

ProtoNet

Search...

Other Resources

NextBio

19592.

SOURCE

Search...

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Entry information

Entry name

PAX5_HUMAN

Accession

Primary (citable) accession number: Q02548
Secondary accession number(s): A3QVP6

O75933

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 1, 1993
Last sequence update:	October 1, 1993
Last modified:	February 9, 2010
This is version 96 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Disclaimer

Any 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.

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