PAX5 (paired box 5)

Gene

• Entrez ID: 5079
• Gene name: Paired box 5
• Gene symbol: PAX5
• Synonyms: ALL3, BSAP
• Chromosome: 9
• Chromosome location: 9p13.2
• Summary: This gene encodes a member of the paired box (PAX) family of transcription factors. The central feature of this gene family is a novel, highly conserved DNA-binding motif, known as the paired box. Paired box transcription factors are important regulators in early development, and alterations in the expression of their genes are thought to contribute to neoplastic transformation. This gene encodes the B-cell lineage specific activator protein that is expressed at early, but not late stages of B-cell differentiation. Its expression has also been detected in developing CNS and testis and so the encoded protein may also play a role in neural development and spermatogenesis. This gene is located at 9p13, which is involved in t(9;14)(p13;q32) translocations recurring in small lymphocytic lymphomas of the plasmacytoid subtype, and in derived large-cell lymphomas. This translocation brings the potent E-mu enhancer of the IgH gene into close proximity of the PAX5 promoter, suggesting that the deregulation of transcription of this gene contributes to the pathogenesis of these lymphomas. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT471530	hsa-miR-6834-5p	PAR-CLIP	23592263
MIRT471531	hsa-miR-4710	PAR-CLIP	23592263
MIRT471532	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT471533	hsa-miR-6133	PAR-CLIP	23592263
MIRT471534	hsa-miR-6130	PAR-CLIP	23592263
MIRT471535	hsa-miR-6129	PAR-CLIP	23592263
MIRT471536	hsa-miR-6127	PAR-CLIP	23592263
MIRT471537	hsa-miR-4510	PAR-CLIP	23592263
MIRT471538	hsa-miR-6875-5p	PAR-CLIP	23592263
MIRT471539	hsa-miR-4419a	PAR-CLIP	23592263
MIRT471540	hsa-miR-3126-5p	PAR-CLIP	23592263
MIRT471541	hsa-miR-6730-5p	PAR-CLIP	23592263
MIRT471542	hsa-miR-3934-5p	PAR-CLIP	23592263
MIRT471543	hsa-miR-764	PAR-CLIP	23592263
MIRT471544	hsa-miR-125a-3p	PAR-CLIP	23592263
MIRT471545	hsa-miR-6890-5p	PAR-CLIP	23592263
MIRT471546	hsa-miR-3675-5p	PAR-CLIP	23592263
MIRT471547	hsa-miR-4756-5p	PAR-CLIP	23592263
MIRT471548	hsa-miR-4739	PAR-CLIP	23592263
MIRT471549	hsa-miR-7109-3p	PAR-CLIP	23592263
MIRT471550	hsa-miR-1321	PAR-CLIP	23592263
MIRT471551	hsa-miR-548m	PAR-CLIP	23592263
MIRT495093	hsa-miR-767-5p	PAR-CLIP	23708386
MIRT495094	hsa-miR-3130-3p	PAR-CLIP	23708386
MIRT495095	hsa-miR-3714	PAR-CLIP	23708386
MIRT555832	hsa-miR-574-5p	PAR-CLIP, HITS-CLIP	21572407
MIRT555832	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT555833	hsa-miR-4455	PAR-CLIP, HITS-CLIP	21572407
MIRT555833	hsa-miR-4455	HITS-CLIP	23824327
MIRT555834	hsa-miR-4666a-5p	PAR-CLIP, HITS-CLIP	21572407
MIRT555834	hsa-miR-4666a-5p	HITS-CLIP	23824327
MIRT555835	hsa-miR-6867-5p	PAR-CLIP, HITS-CLIP	21572407
MIRT555835	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT614876	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT614876	hsa-miR-335-3p	HITS-CLIP	19536157
MIRT614877	hsa-miR-1305	HITS-CLIP	23824327
MIRT614877	hsa-miR-1305	HITS-CLIP	19536157
MIRT614878	hsa-miR-620	HITS-CLIP	23824327
MIRT614879	hsa-miR-1270	HITS-CLIP	23824327
MIRT614880	hsa-miR-4531	HITS-CLIP	23824327
MIRT614881	hsa-miR-3653-3p	HITS-CLIP	23824327
MIRT614882	hsa-miR-139-3p	HITS-CLIP	23824327
MIRT614883	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT614883	hsa-miR-153-5p	HITS-CLIP	19536157

Transcription factors

Transcription factor	Regulation	Reference
TP53	Activation	21319196

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001650	Component	Fibrillar center	IDA
GO:0005515	Function	Protein binding	IPI	24735925, 32296183
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005829	Component	Cytosol	IDA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0006366	Process	Transcription by RNA polymerase II	TAS	10524622
GO:0006959	Process	Humoral immune response	TAS	10524629
GO:0007275	Process	Multicellular organism development	TAS	10524629
GO:0007283	Process	Spermatogenesis	IEA
GO:0007568	Process	Aging	IEA
GO:0009887	Process	Animal organ morphogenesis	TAS	10524622
GO:0021670	Process	Lateral ventricle development	IEA
GO:0021987	Process	Cerebral cortex development	IEA
GO:0030534	Process	Adult behavior	IEA
GO:0035914	Process	Skeletal muscle cell differentiation	IEA
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0048701	Process	Embryonic cranial skeleton morphogenesis	IEA
GO:0048856	Process	Anatomical structure development	IBA	21873635
GO:0050855	Process	Regulation of B cell receptor signaling pathway	TAS
GO:0051573	Process	Negative regulation of histone H3-K9 methylation	IEA

Other IDs

• MIM: 167414
• HGNC: 8619
• e!Ensembl: ENSG00000196092

Protein

• UniProt ID: Q02548
• Protein name: Paired box protein Pax-5 (B-cell-specific transcription factor) (BSAP)
• Protein function: Transcription factor that plays an essential role in commitment of lymphoid progenitors to the B-lymphocyte lineage (PubMed:10811620, PubMed:27181361). Fulfills a dual role by repressing B-lineage inappropriate genes and simultaneously activating B-lineage-specific genes (PubMed:10811620, PubMed:27181361). In turn, regulates cell adhesion and migration, induces V(H)-to-D(H)J(H) recombination, facilitates pre-B-cell receptor signaling and promotes development to the mature B-cell stage (PubMed:32612238). Repression of the cohesin-release factor WAPL causes global changes of the chromosomal architecture in pro-B cells to facilitate the generation of a diverse antibody repertoire (PubMed:32612238). ; (Microbial infection) Plays an essential role in the maintenance of Epstein-Barr virus genome copy number within the host cell by promoting EBNA1/oriP-dependent binding and transcription (PubMed:31941781). Participates also in the inhibition of lytic EBV reactivation by modulating viral BZLF1 activity (PubMed:23678172).
• PDB: 1K78, 1MDM
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00292	PAX	16 → 140		Domain
  PF12403	Pax2_C	279 → 390	Paired-box protein 2 C terminal	Family

• Sequence:

  MDLEKNYPTPRTSRTGHGGVNQLGGVFVNGRPLPDVVRQRIVELAHQGVRPCDISRQLRV
  SHGCVSKILGRYYETGSIKPGVIGGSKPKVATPKVVEKIAEYKRQNPTMFAWEIRDRLLA
  ERVCDNDTVPSVSSINRIIRTKVQQPPNQPVPASSHSIVSTGSVTQVSSVSTDSAGSSYS
  ISGILGITSPSADTNKRKRDEGIQESPVPNGHSLPGRDFLRKQMRGDLFTQQQLEVLDRV
  FERQHYSDIFTTTEPIKPEQTTEYSAMASLAGGLDDMKANLASPTPADIGSSVPGPQSYP
  IVTGRDLASTTLPGYPPHVPPAGQGSYSAPTLTGMVPGSEFSGSPYSHPQYSSYNDSWRF
  PNPGLLGSPYYYSAAARGAAPPAAATAYDRH

• Sequence length: 391

Pathways

KEGG:

Transcriptional misregulation in cancer

Reactome:

RUNX1 regulates transcription of genes involved in BCR signaling

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Diabetes mellitus	Diabetes Mellitus, Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs4402960, rs1362648752, rs3745368, rs3792267, rs3842570, rs5030952, rs2975760, rs119489103, rs7903146, rs12255372, rs11196205, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs137852740, rs137852786, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs-1, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs80356663, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356666, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs387906779, rs141804752, rs182349376, rs184917682, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs61736969, rs587783673, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs797045623, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs371977235, rs76474829, rs200998587, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs776793516, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261	29695241
Coronary artery disease	Coronary Artery Disease	rs137852988, rs121918313, rs-1, rs121918529, rs121918531, rs137852340, rs405509, rs1555800701, rs1215189537	29695241
Obesity	Obesity	rs34911341, rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs-1, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs74315393, rs121913556, rs2989924, rs193922650, rs193922685, rs193922687, rs751160202, rs1421085, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829, rs6548238, rs7138803, rs7754840	22013104
Non-hodgkin lymphoma	Lymphoma, Non-Hodgkin	rs121908689, rs28936699, rs121909775, rs398122800, rs121913357, rs121913355, rs398122820
Lymphoblastic leukemia	Childhood Acute Lymphoblastic Leukemia, L2 Acute Lymphoblastic Leukemia, Precursor B-Cell Lymphoblastic Leukemia-Lymphoma, Precursor B-cell lymphoblastic leukemia, LEUKEMIA, ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, 3, Precursor B-cell acute lymphoblastic leukemia, Precursor Cell Lymphoblastic Leukemia Lymphoma	rs387906351, rs104894562, rs398122513, rs398122840, rs398123063, rs1057524466, rs1064796115, rs1064795660, rs1064793129, rs1064796227, rs1567887558, rs-1, rs1161194345, rs1597558200, rs1406320425, rs1597566470, rs1597566699, rs1597567692, rs1597567985, rs1438890364, rs1288977950, rs1597552140, rs1597566356, rs1597566726, rs1597568117, rs2069719445, rs2069729948, rs2070018439, rs745708044, rs1169577591	26214592, 24013638, 30643249, 17179230, 21962897, 22578776
Burkitt`s lymphoma	Burkitt Lymphoma	rs28933407, rs121918683, rs121918684	22578776, 17179230, 24013638, 21962897
Neurodevelopmental disorders	Neurodevelopmental Disorders	rs869312846, rs869312840, rs869312848, rs869312849, rs869312845, rs886041956, rs1064795110, rs1555762734, rs1555764992, rs1568512728, rs1568532361, rs1595472741, rs1595472764, rs1595476797, rs1016320330, rs1595127294, rs1600392059	28191889

Unknown
Disease name	Disease term	dbSNP ID	References
Mental depression	Major Depressive Disorder	rs587778876, rs587778877	27479909, 29662059, 30718901