ASpdb: an integrative knowledgebase of human protein isoforms from experimental and AI-predicted structures

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	Protein Summary
	AS Summary
	Protein Functional Features
	Gene Isoform Structures and Expression Levels
	Protein Structures
	pLDDT Score Distribution
	Ramachandran Plot of Protein Structures
	Potential Active Site Information
	Protein Structure and Feature Comparision
	Protein-Protein Interaction
	Related Drugs
	Related Diseases
	Clinically Important Variants

Protein:PAX5

Protein Summary

Gene summary

Gene name: PAX5
ASpdb.0 ID: 5079
	Gene
Gene symbol	PAX5
Gene ID	5079
Gene name	paired box 5
Synonyms	ALL3\|BSAP\|PAX-5
Cytomap	9p13.2
Type of gene	protein-coding
Description	paired box protein Pax-5B-cell lineage specific activatorpaired box homeotic gene 5paired domain gene 5transcription factor PAX 5
Modification date	20240407
UniProtAcc	Q02548

Gene ontology of this gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Gene	PAX5	GO:0005654	nucleoplasm	-

AS Summary

Information of the canonical protein with experimentally identified structure from PDB (2023).

UniProt Acc	File name	PDB ID	Method	Resolution	Chain	Start	End
Q02548-1	Q02548-1_1k78_A.pdb	1K78	X-ray	2.25	A	19	142

ASpdb's canonical and alternatively spliced isoform information.

accession_id	gene_name	canonical_id	alternative_id	canonical_length	alternative_length	canonical_start	canonical_end	type	originalSEQ	variationSEQ	alternative_start	alternative_end
Q02548	PAX5	Q02548-1	Q02548-10	391	291	71	136	Deletion	none	none	70	70
Q02548	PAX5	Q02548-1	Q02548-10	391	291	304	337	Deletion	none	none	237	237
Q02548	PAX5	Q02548-1	Q02548-11	391	307	261	307	Substitution	TTEYSAMASLAGGLDDMKANLASPTPADIGSSVPGPQSYPIVTGRDL	WCPVLMRQYLVQPQAVLFQAVTWRARPSPGTLHTSPPLDRAATQHRR	261	307
Q02548	PAX5	Q02548-1	Q02548-11	391	307	308	391	Deletion	none	none	307	307
Q02548	PAX5	Q02548-1	Q02548-2	391	362	338	366	Deletion	none	none	337	337
Q02548	PAX5	Q02548-1	Q02548-3	391	324	261	282	Substitution	TTEYSAMASLAGGLDDMKANLA	GVSFPGVPTATLSIPRTTTPGG	261	282
Q02548	PAX5	Q02548-1	Q02548-3	391	324	286	315	Substitution	PADIGSSVPGPQSYPIVTGRDLASTTLPGY	RGCLAPPIIIALPPEE	286	301
Q02548	PAX5	Q02548-1	Q02548-3	391	324	319	391	Substitution	VPPAGQGSYSAPTLTGMVPGSEFSGSPYSHPQYSSYNDSWRFPNPGLLGSPYYYSAAARGAAPPAAATAYDRH	LQPPLPMTVTDPWSQAGTKH	305	324
Q02548	PAX5	Q02548-1	Q02548-4	391	295	261	315	Substitution	TTEYSAMASLAGGLDDMKANLASPTPADIGSSVPGPQSYPIVTGRDLASTTLPGY	APPIIIALPPEE	261	272
Q02548	PAX5	Q02548-1	Q02548-4	391	295	319	391	Substitution	VPPAGQGSYSAPTLTGMVPGSEFSGSPYSHPQYSSYNDSWRFPNPGLLGSPYYYSAAARGAAPPAAATAYDRH	LQPPLPMTVTDPWSQAGTKH	276	295
Q02548	PAX5	Q02548-1	Q02548-5	391	288	261	391	Substitution	TTEYSAMASLAGGLDDMKANLASPTPADIGSSVPGPQSYPIVTGRDLASTTLPGYPPHVPPAGQGSYSAPTLTGMVPGSEFSGSPYSHPQYSSYNDSWRFPNPGLLGSPYYYSAAARGAAPPAAATAYDRH	AVTWRARPSPGTLHTSPPLDRAATQHRR	261	288
Q02548	PAX5	Q02548-1	Q02548-6	391	357	305	349	Substitution	RDLASTTLPGYPPHVPPAGQGSYSAPTLTGMVPGSEFSGSPYSHP	SEFSGSPYSHP	305	315
Q02548	PAX5	Q02548-1	Q02548-7	391	328	304	366	Deletion	none	none	303	303
Q02548	PAX5	Q02548-1	Q02548-8	391	348	159	201	Deletion	none	none	158	158
Q02548	PAX5	Q02548-1	Q02548-9	391	319	159	201	Deletion	none	none	158	158
Q02548	PAX5	Q02548-1	Q02548-9	391	319	338	366	Deletion	none	none	294	294

Multiple sequence alignment of our canonical and alternatively spliced PAX5

Matched gene isoform IDs with Ensembl and RefSeq of our canonical and alternative spliced genes of PAX5

UniProt-id	ENSG	ENST	ENSP
Q02548-1	ENSG00000196092.14	ENST00000358127.9	ENSP00000350844.4
Q02548-10	ENSG00000196092.14	ENST00000446742.5	ENSP00000404687.1
Q02548-11	ENSG00000196092.14	ENST00000523493.5	ENSP00000431038.1
Q02548-2	ENSG00000196092.14	ENST00000377853.6	ENSP00000367084.2
Q02548-5	ENSG00000196092.14	ENST00000377840.6	ENSP00000367071.2
Q02548-6	ENSG00000196092.14	ENST00000377852.7	ENSP00000367083.2
Q02548-7	ENSG00000196092.14	ENST00000377847.6	ENSP00000367078.2
Q02548-8	ENSG00000196092.14	ENST00000414447.5	ENSP00000412188.1
Q02548-9	ENSG00000196092.14	ENST00000520281.5	ENSP00000430773.1

UniProt-id	NM ID	NP ID
Q02548-1	NM_016734.2	NP_057953.1
Q02548-10	NM_001280555.1	NP_001267484.1
Q02548-2	NM_001280548.1	NP_001267477.1
Q02548-6	NM_001280547.1	NP_001267476.1
Q02548-7	NM_001280552.1	NP_001267481.1
Q02548-8	NM_001280554.1	NP_001267483.1
Q02548-9	NM_001280553.1	NP_001267482.1

Amino acid sequences of our canonical and alternatively spliced PAX5

accession_id	Protein sequence
Q02548-1	MDLEKNYPTPRTSRTGHGGVNQLGGVFVNGRPLPDVVRQRIVELAHQGVRPCDISRQLRVSHGCVSKILGRYYETGSIKPGVIGGSKPKV ATPKVVEKIAEYKRQNPTMFAWEIRDRLLAERVCDNDTVPSVSSINRIIRTKVQQPPNQPVPASSHSIVSTGSVTQVSSVSTDSAGSSYS ISGILGITSPSADTNKRKRDEGIQESPVPNGHSLPGRDFLRKQMRGDLFTQQQLEVLDRVFERQHYSDIFTTTEPIKPEQTTEYSAMASL AGGLDDMKANLASPTPADIGSSVPGPQSYPIVTGRDLASTTLPGYPPHVPPAGQGSYSAPTLTGMVPGSEFSGSPYSHPQYSSYNDSWRF
Q02548-10	MDLEKNYPTPRTSRTGHGGVNQLGGVFVNGRPLPDVVRQRIVELAHQGVRPCDISRQLRVSHGCVSKILGRIIRTKVQQPPNQPVPASSH SIVSTGSVTQVSSVSTDSAGSSYSISGILGITSPSADTNKRKRDEGIQESPVPNGHSLPGRDFLRKQMRGDLFTQQQLEVLDRVFERQHY SDIFTTTEPIKPEQTTEYSAMASLAGGLDDMKANLASPTPADIGSSVPGPQSYPIVTGSEFSGSPYSHPQYSSYNDSWRFPNPGLLGSPY
Q02548-11	MDLEKNYPTPRTSRTGHGGVNQLGGVFVNGRPLPDVVRQRIVELAHQGVRPCDISRQLRVSHGCVSKILGRYYETGSIKPGVIGGSKPKV ATPKVVEKIAEYKRQNPTMFAWEIRDRLLAERVCDNDTVPSVSSINRIIRTKVQQPPNQPVPASSHSIVSTGSVTQVSSVSTDSAGSSYS ISGILGITSPSADTNKRKRDEGIQESPVPNGHSLPGRDFLRKQMRGDLFTQQQLEVLDRVFERQHYSDIFTTTEPIKPEQWCPVLMRQYL
Q02548-2	MDLEKNYPTPRTSRTGHGGVNQLGGVFVNGRPLPDVVRQRIVELAHQGVRPCDISRQLRVSHGCVSKILGRYYETGSIKPGVIGGSKPKV ATPKVVEKIAEYKRQNPTMFAWEIRDRLLAERVCDNDTVPSVSSINRIIRTKVQQPPNQPVPASSHSIVSTGSVTQVSSVSTDSAGSSYS ISGILGITSPSADTNKRKRDEGIQESPVPNGHSLPGRDFLRKQMRGDLFTQQQLEVLDRVFERQHYSDIFTTTEPIKPEQTTEYSAMASL AGGLDDMKANLASPTPADIGSSVPGPQSYPIVTGRDLASTTLPGYPPHVPPAGQGSYSAPTLTGMVPGSPYYYSAAARGAAPPAAATAYD
Q02548-3	MDLEKNYPTPRTSRTGHGGVNQLGGVFVNGRPLPDVVRQRIVELAHQGVRPCDISRQLRVSHGCVSKILGRYYETGSIKPGVIGGSKPKV ATPKVVEKIAEYKRQNPTMFAWEIRDRLLAERVCDNDTVPSVSSINRIIRTKVQQPPNQPVPASSHSIVSTGSVTQVSSVSTDSAGSSYS ISGILGITSPSADTNKRKRDEGIQESPVPNGHSLPGRDFLRKQMRGDLFTQQQLEVLDRVFERQHYSDIFTTTEPIKPEQGVSFPGVPTA
Q02548-4	MDLEKNYPTPRTSRTGHGGVNQLGGVFVNGRPLPDVVRQRIVELAHQGVRPCDISRQLRVSHGCVSKILGRYYETGSIKPGVIGGSKPKV ATPKVVEKIAEYKRQNPTMFAWEIRDRLLAERVCDNDTVPSVSSINRIIRTKVQQPPNQPVPASSHSIVSTGSVTQVSSVSTDSAGSSYS ISGILGITSPSADTNKRKRDEGIQESPVPNGHSLPGRDFLRKQMRGDLFTQQQLEVLDRVFERQHYSDIFTTTEPIKPEQAPPIIIALPP
Q02548-5	MDLEKNYPTPRTSRTGHGGVNQLGGVFVNGRPLPDVVRQRIVELAHQGVRPCDISRQLRVSHGCVSKILGRYYETGSIKPGVIGGSKPKV ATPKVVEKIAEYKRQNPTMFAWEIRDRLLAERVCDNDTVPSVSSINRIIRTKVQQPPNQPVPASSHSIVSTGSVTQVSSVSTDSAGSSYS ISGILGITSPSADTNKRKRDEGIQESPVPNGHSLPGRDFLRKQMRGDLFTQQQLEVLDRVFERQHYSDIFTTTEPIKPEQAVTWRARPSP
Q02548-6	MDLEKNYPTPRTSRTGHGGVNQLGGVFVNGRPLPDVVRQRIVELAHQGVRPCDISRQLRVSHGCVSKILGRYYETGSIKPGVIGGSKPKV ATPKVVEKIAEYKRQNPTMFAWEIRDRLLAERVCDNDTVPSVSSINRIIRTKVQQPPNQPVPASSHSIVSTGSVTQVSSVSTDSAGSSYS ISGILGITSPSADTNKRKRDEGIQESPVPNGHSLPGRDFLRKQMRGDLFTQQQLEVLDRVFERQHYSDIFTTTEPIKPEQTTEYSAMASL
Q02548-7	MDLEKNYPTPRTSRTGHGGVNQLGGVFVNGRPLPDVVRQRIVELAHQGVRPCDISRQLRVSHGCVSKILGRYYETGSIKPGVIGGSKPKV ATPKVVEKIAEYKRQNPTMFAWEIRDRLLAERVCDNDTVPSVSSINRIIRTKVQQPPNQPVPASSHSIVSTGSVTQVSSVSTDSAGSSYS ISGILGITSPSADTNKRKRDEGIQESPVPNGHSLPGRDFLRKQMRGDLFTQQQLEVLDRVFERQHYSDIFTTTEPIKPEQTTEYSAMASL
Q02548-8	MDLEKNYPTPRTSRTGHGGVNQLGGVFVNGRPLPDVVRQRIVELAHQGVRPCDISRQLRVSHGCVSKILGRYYETGSIKPGVIGGSKPKV ATPKVVEKIAEYKRQNPTMFAWEIRDRLLAERVCDNDTVPSVSSINRIIRTKVQQPPNQPVPASSHSIGIQESPVPNGHSLPGRDFLRKQ MRGDLFTQQQLEVLDRVFERQHYSDIFTTTEPIKPEQTTEYSAMASLAGGLDDMKANLASPTPADIGSSVPGPQSYPIVTGRDLASTTLP
Q02548-9	MDLEKNYPTPRTSRTGHGGVNQLGGVFVNGRPLPDVVRQRIVELAHQGVRPCDISRQLRVSHGCVSKILGRYYETGSIKPGVIGGSKPKV ATPKVVEKIAEYKRQNPTMFAWEIRDRLLAERVCDNDTVPSVSSINRIIRTKVQQPPNQPVPASSHSIGIQESPVPNGHSLPGRDFLRKQ MRGDLFTQQQLEVLDRVFERQHYSDIFTTTEPIKPEQTTEYSAMASLAGGLDDMKANLASPTPADIGSSVPGPQSYPIVTGRDLASTTLP

Protein Functional Features

Main function of this protein. (from UniProt)

PAX5 (go to UniProt):Q02548

Retention analysis result of protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at
download page
* Minus value of BPloci means that the break pointn is located before the CDS.

- Retained protein feature among the 13 regional features.

Accession_id	Subsection	Start	End	Funcitonal feature	Splicing information
Q02548	DNA binding	16	142	Note=Paired;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00381	Type=Deletion;Start=71;End=136
Q02548	Region	19	75	Note=PAI subdomain;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00381	Type=Deletion;Start=71;End=136
Q02548	Region	94	142	Note=RED subdomain;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00381	Type=Deletion;Start=71;End=136
Q02548	Region	182	218	Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256\|SAM:MobiDB-lite	Type=Deletion;Start=159;End=201
Q02548	Region	182	218	Note=Disordered;Ontology_term=ECO:0000256;evidence=ECO:0000256\|SAM:MobiDB-lite	Type=Deletion;Start=159;End=201

Gene Isoform Structures and Expression Levels for PAX5

Gene structures of our canonical and alternative spliced genes of PAX5
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Expression levels of gene isoforms across GTEx.

Expression levels of gene isoforms across TCGA.

Protein Structures

PDB and CIF files of the predicted protein structures
* Here we show the 3D structure of the proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format.

3D view using mol* of Q02548-1

3D view using mol* of Q02548-10

3D view using mol* of Q02548-11

3D view using mol* of Q02548-2

3D view using mol* of Q02548-3

3D view using mol* of Q02548-4

3D view using mol* of Q02548-5

3D view using mol* of Q02548-6

3D view using mol* of Q02548-7

3D view using mol* of Q02548-8

3D view using mol* of Q02548-9

pLDDT Score Distribution

pLDDT score distribution of the predicted protein structures from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.

pLDDT distribution across the protein length of Q02548-1

pLDDT distribution across the protein length of Q02548-10

pLDDT distribution across the protein length of Q02548-11

pLDDT distribution across the protein length of Q02548-2

pLDDT distribution across the protein length of Q02548-3

pLDDT distribution across the protein length of Q02548-4

pLDDT distribution across the protein length of Q02548-5

pLDDT distribution across the protein length of Q02548-6

pLDDT distribution across the protein length of Q02548-7

pLDDT distribution across the protein length of Q02548-8

pLDDT distribution across the protein length of Q02548-9

Ramachandran Plot of Protein Structures

Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this protein peptide.

Ramachandran plot of Q02548-1

Ramachandran plot of Q02548-10

Ramachandran plot of Q02548-11

Ramachandran plot of Q02548-2

Ramachandran plot of Q02548-3

Ramachandran plot of Q02548-4

Ramachandran plot of Q02548-6

Ramachandran plot of Q02548-7

Ramachandran plot of Q02548-9

Potential Active Site Information

The potential binding sites of these proteins were identified using SiteMap, a module of the Schrodinger suite.

UniProt-id	Site score	Size	D score	Volume	Exposure	Enclosure	Contact	Phobic	Philic	Balance	Don/Acc	Residues
Q02548-1	0.864	74	0.815	257.25	0.708	0.648	0.809	0.142	1.174	0.121	0.452	21,25,26,27,28,29,30,31,32,33,34,37,38,58,59,60,61 ,64,67,68,71
Q02548-10	0.978	103	1.024	230.496	0.576	0.617	0.922	0.662	0.877	0.754	2.85	45,46,48,73,76,77,79,80,81,82,83,259,260,261,262,2 63,265,266
Q02548-11	0.887	83	0.911	258.965	0.743	0.594	0.759	0.323	0.928	0.348	0.516	21,25,26,27,28,29,30,31,32,33,34,37,38,58,59,60,61 ,64,67,68,71,80,81
Q02548-2	0.831	73	0.841	194.138	0.744	0.578	0.711	0.253	0.948	0.267	0.556	21,25,26,27,28,29,30,31,32,33,34,37,38,58,59,60,61 ,64
Q02548-3	0.827	70	0.825	207.858	0.729	0.607	0.807	0.259	1.001	0.259	0.606	18,21,25,26,27,28,31,32,33,34,37,38,58,59,60,61,64 ,68
Q02548-4	0.905	87	0.872	264.796	0.702	0.629	0.852	0.244	1.174	0.208	0.442	21,25,26,27,28,29,30,31,32,33,34,37,38,58,59,60,61 ,64,67,68,71,72,77,78,80,81,83
Q02548-5	0.832	67	0.752	200.312	0.662	0.645	0.901	0.325	1.24	0.262	0.583	21,25,26,27,28,29,30,31,32,33,34,37,38,58,59,60,61 ,64,68
Q02548-6	0.896	89	0.921	265.825	0.746	0.582	0.748	0.212	0.966	0.219	0.539	21,25,26,27,28,29,30,31,32,33,34,37,38,58,59,60,61 ,64,67,68,71,80,81,83
Q02548-7	0.903	88	0.868	255.535	0.7	0.621	0.821	0.209	1.186	0.176	0.423	21,25,26,27,28,29,30,31,32,33,34,37,38,58,60,61,64 ,67,68,71,80,81,83
Q02548-8	0.915	93	0.923	264.796	0.722	0.61	0.79	0.253	1.073	0.236	0.421	18,21,25,26,27,28,31,32,33,34,37,38,58,59,60,61,64 ,67,68,71,72,77,78,80,81,83
Q02548-9	0.867	79	0.843	269.255	0.734	0.622	0.847	0.225	1.123	0.201	0.52	21,25,26,27,28,29,30,31,32,33,34,37,38,58,59,60,61 ,64,67,68,71,80,81,83

Protein Structure and Feature Comparision

Protein Structure Comparision Using Template Modeling Scores (TM-score).

Protein Structure Comparision Visualization with mol*. between Canonical predicted structure (AF2)(orange) vs Canonical validated structure (PDB)(green)

3D view using mol* of Q02548-1_Q02548-1_1k78_A.pdb

Protein Structure Comparision Visualization with mol*. between Canonical validated structure (PDB)(orange) vs Alternative predicted structure (AF2)(green)

3D view using mol* of Q02548-1_1k78_A_Q02548-10.pdb

3D view using mol* of Q02548-1_1k78_A_Q02548-11.pdb

3D view using mol* of Q02548-1_1k78_A_Q02548-2.pdb

3D view using mol* of Q02548-1_1k78_A_Q02548-3.pdb

3D view using mol* of Q02548-1_1k78_A_Q02548-4.pdb

3D view using mol* of Q02548-1_1k78_A_Q02548-5.pdb

3D view using mol* of Q02548-1_1k78_A_Q02548-6.pdb

3D view using mol* of Q02548-1_1k78_A_Q02548-7.pdb

3D view using mol* of Q02548-1_1k78_A_Q02548-8.pdb

3D view using mol* of Q02548-1_1k78_A_Q02548-9.pdb

Protein Structure Comparision Visualization with mol*. between Canonical predicted structure (AF2)(orange) vs Alternative predicted structure (AF2)(green)

3D view using mol* of Q02548-1_Q02548-10.pdb

3D view using mol* of Q02548-1_Q02548-11.pdb

3D view using mol* of Q02548-1_Q02548-2.pdb

3D view using mol* of Q02548-1_Q02548-3.pdb

3D view using mol* of Q02548-1_Q02548-4.pdb

3D view using mol* of Q02548-1_Q02548-5.pdb

3D view using mol* of Q02548-1_Q02548-6.pdb

3D view using mol* of Q02548-1_Q02548-7.pdb

3D view using mol* of Q02548-1_Q02548-8.pdb

3D view using mol* of Q02548-1_Q02548-9.pdb

Protein Feature Comparison of the protein sequendary structures among the protiens.

./stats/secondary_structure/figure/Q02548-1_vs_Q02548-10.png

./stats/secondary_structure/figure/Q02548-1_vs_Q02548-11.png

./stats/secondary_structure/figure/Q02548-1_vs_Q02548-2.png

./stats/secondary_structure/figure/Q02548-1_vs_Q02548-3.png

./stats/secondary_structure/figure/Q02548-1_vs_Q02548-4.png

./stats/secondary_structure/figure/Q02548-1_vs_Q02548-5.png

./stats/secondary_structure/figure/Q02548-1_vs_Q02548-6.png

./stats/secondary_structure/figure/Q02548-1_vs_Q02548-7.png

./stats/secondary_structure/figure/Q02548-1_vs_Q02548-8.png

./stats/secondary_structure/figure/Q02548-1_vs_Q02548-9.png

Protein Feature Comparison of the relative accessible surface area (ASA) among the protiens.

./stats/relative_asa/Q02548-1_vs_Q02548-10.png

./stats/relative_asa/Q02548-1_vs_Q02548-11.png

./stats/relative_asa/Q02548-1_vs_Q02548-2.png

./stats/relative_asa/Q02548-1_vs_Q02548-3.png

./stats/relative_asa/Q02548-1_vs_Q02548-4.png

./stats/relative_asa/Q02548-1_vs_Q02548-5.png

./stats/relative_asa/Q02548-1_vs_Q02548-6.png

./stats/relative_asa/Q02548-1_vs_Q02548-7.png

./stats/relative_asa/Q02548-1_vs_Q02548-8.png

./stats/relative_asa/Q02548-1_vs_Q02548-9.png

Protein-Protein Interaction

Interactors from UniProt.

Accession_id

Subsection

Start

End

Funcitonal feature

Splicing information

Interactors from STRING.

Gene name

Interactors

Related Drugs to PAX5

Drugs targeting this gene/protein.
(DrugBank)

UniProt accession

Gene name

DrugBank ID

Drug name

Drug group

Actions

Related Diseases to PAX5

Previous studies relating to the alternative splicing of PAX5 and disease information from the MeSH term (PubMed)

Gene	PMID	Title	Abstract	MeSH ID	MeSH term
PAX5	15385562	Human Pax-5 C-terminal isoforms possess distinct transactivation properties and are differentially modulated in normal and malignant B cells.	The transcription factor Pax-5 occupies a central role in B cell differentiation and has been implicated in the development of B cell lymphoma. The transcriptional activation function of Pax-5 requires an intact N-terminal DNA-binding domain and is strongly influenced by the C-terminal transactivation domain. We report the identification and characterization of five human Pax-5 isoforms, which occur through the alternative splicing of exons that encode for the C-terminal transactivation domain. These isoforms arise from the inclusion or exclusion of exon 7, exon 8, and/or exon 9. Three of the Pax-5 isoforms generate novel protein sequences rich in proline, serine, and threonine amino acids that are the hallmarks of transactivation domains. The Pax-5 isoforms are expressed in peripheral blood mononuclear cells, cancerous and non-cancerous B cell lines, as well as in primary B cell lymphoma tissue. Electrophoretic mobility shift assays demonstrate that the isoforms possess specific DNA binding activity and recognize the PAX-5 consensus binding sites. In reporter assays using the CD19 promoter, the transactivation properties of the various isoforms were significantly influenced by the changes in the C-terminal protein sequence. Finally, we demonstrate, for the first time, that human Pax-5 isoform expression is modulated by specific signaling pathways in B lymphocytes.	D015448	Leukemia, B-Cell

Clinically important variants in PAX5

(ClinVar, 04/20/2024)

accession_id

uniprot_id

gene_name

Type

Variant

Clinical_significance