Reviewed, UniProtKB/Swiss-Prot Q02548 (PAX5_HUMAN)

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)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

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

Protein attributes

Sequence length	391 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence 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.
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.

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
Gene Ontology (GO)
Biological process	humoral immune response Traceable author statement. Source: ProtInc organ morphogenesis Traceable author statement. Source: ProtInc transcription from RNA polymerase II promoter Traceable author statement. Source: ProtInc
Complete GO annotation...

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

2

Breakpoint for translocation to form PAX5-ETV6

Site

260 – 261

2

Breakpoint for translocation to form PAX5-FOXP1

Site

303 – 304

2

Breakpoint for translocation to form PAX5-ZNF521

Natural variations

Natural variant

322

1

A → T: dbSNP rs34810717.

VAR_034370

Experimental info

Sequence conflict

99

1

I → F in AAC35286. Ref.2

Sequence conflict

141 – 143

3

TKV → PKL in AAC35286. Ref.3

Secondary structure

1

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

391

Helix Strand Turn

Details...

Helix

35 – 46

12

Helix

51 – 58

8

Helix

62 – 75

14

Beta strand

89 – 91

3

Helix

93 – 105

13

Helix

111 – 120

10

Turn

126 – 128

3

Helix

132 – 140

9

Sequences

	Sequence		Length	Mass (Da)
	Q02548-1 [UniParc]. Last modified October 1, 1993. Version 1. Checksum: DB37E6EACD9F993A	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

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.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Cross-references

Sequence databases

EMBLGenBankDDBJ

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.

PIR

A44063.

RefSeq

NP_057953.1.

UniGene

Hs.654464
Hs.684503

3D structure databases

PDBMSD

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	[»]

ModBase

Search...

PTM databases

PhosphoSite

Q02548.

Genome annotation databases

Ensembl

ENSG00000196092. Homo sapiens. [Contig view]

GeneID

5079.

KEGG

hsa:5079.

Organism-specific databases

H-InvDB

HIX0034757.

HGNC

HGNC:8619. PAX5.

HPA

CAB001449.

MIM

167414. gene.

PharmGKB

PA32959.

GenAtlas

Search...

GeneCards

Search...

Phylogenomic databases

HOVERGEN

Q02548.

Gene expression databases

ArrayExpress

Q02548.

CleanEx

HS_PAX5.

GermOnline

ENSG00000196092. Homo sapiens.

Family and domain databases

InterPro

IPR001523. Paired_box_N.
IPR011991. Wing_hlx_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]

BLOCKS

Search...

ProtoNet

Search...

Other Resources

LinkHub

Q02548.

NextBio

19592.

SOURCE

Search...

Entry information

Entry name

PAX5_HUMAN

Accession

Primary (citable) accession number: Q02548
Secondary accession number(s): A3QVP6 , A3QVP7, A3QVP8, O75933

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 1, 1993
Last sequence update:	October 1, 1993
Last modified:	November 4, 2008
This is version 81 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)