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Paired box protein Pax-5 (B-cell-specific transcription factor) (BSAP)

 PAX5_HUMAN              Reviewed;         391 AA.
Q02548; A3QVP6; A3QVP7; A3QVP8; C0KTF6; C0KTF7; C0KTF8; C0KTF9;
C0KTG0; O75933; Q5SFM2; Q6S728; Q6S729; Q6S730; Q6S731; Q6S732;
01-OCT-1993, integrated into UniProtKB/Swiss-Prot.
01-OCT-1993, sequence version 1.
31-JAN-2018, entry version 170.
RecName: Full=Paired box protein Pax-5;
AltName: Full=B-cell-specific transcription factor;
Short=BSAP;
Name=PAX5;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
PubMed=1516825; DOI=10.1101/gad.6.9.1589;
Adams B., Doerfler P., Aguzzi A., Kozmik Z., Urbanek P.,
Maurer-Fogy I., Busslinger M.;
"Pax-5 encodes the transcription factor BSAP and is expressed in B
lymphocytes, the developing CNS, and adult testis.";
Genes Dev. 6:1589-1607(1992).
[2]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3; 4; 5 AND 6), AND
ALTERNATIVE SPLICING.
PubMed=15385562; DOI=10.1074/jbc.M407171200;
Robichaud G.A., Nardini M., Laflamme M., Cuperlovic-Culf M.,
Ouellette R.J.;
"Human Pax-5 C-terminal isoforms possess distinct transactivation
properties and are differentially modulated in normal and malignant B
cells.";
J. Biol. Chem. 279:49956-49963(2004).
[3]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 7; 8; 9; 10 AND 11).
PubMed=19725825; DOI=10.1111/j.1365-2141.2009.07859.x;
Arseneau J.R., Laflamme M., Lewis S.M., Maicas E., Ouellette R.J.;
"Multiple isoforms of PAX5 are expressed in both lymphomas and normal
B-cells.";
Br. J. Haematol. 147:328-338(2009).
[4]
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
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.
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=15164053; DOI=10.1038/nature02465;
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., 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.;
"DNA sequence and analysis of human chromosome 9.";
Nature 429:369-374(2004).
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
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., 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.
[7]
NUCLEOTIDE SEQUENCE [MRNA] OF 1-333 (ISOFORM 1), CHROMOSOMAL
TRANSLOCATION WITH ZNF521, CHROMOSOMAL TRANSLOCATION WITH FOXP1, AND
CHROMOSOMAL TRANSLOCATION WITH ETV6.
PubMed=17344859; DOI=10.1038/nature05690;
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.;
"Genome-wide analysis of genetic alterations in acute lymphoblastic
leukaemia.";
Nature 446:758-764(2007).
[8]
NUCLEOTIDE SEQUENCE [MRNA] OF 62-197.
PubMed=9742255; DOI=10.1093/nar/26.19.4497;
Verkoczy L.K., Berinstein N.L.;
"Isolation of genes negatively or positively co-expressed with human
recombination activating gene 1 (RAG1) by differential display PCR (DD
RT-PCR).";
Nucleic Acids Res. 26:4497-4507(1998).
[9]
INTERACTION WITH TLE4.
PubMed=10811620; DOI=10.1093/emboj/19.10.2292;
Eberhard D., Jimenez G., Heavey B., Busslinger M.;
"Transcriptional repression by Pax5 (BSAP) through interaction with
corepressors of the Groucho family.";
EMBO J. 19:2292-2303(2000).
[10]
X-RAY CRYSTALLOGRAPHY (2.25 ANGSTROMS) OF 1-149 IN COMPLEX WITH MOUSE
ETS1 AND DNA.
PubMed=11779502; DOI=10.1016/S1097-2765(01)00410-5;
Garvie C.W., Hagman J., Wolberger C.;
"Structural studies of Ets-1/Pax5 complex formation on DNA.";
Mol. Cell 8:1267-1276(2001).
[11]
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, AND CHARACTERIZATION OF VARIANT ALL3 SER-183.
PubMed=24013638; DOI=10.1038/ng.2754;
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.,
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.;
"A recurrent germline PAX5 mutation confers susceptibility to pre-B
cell acute lymphoblastic leukemia.";
Nat. Genet. 45:1226-1231(2013).
-!- 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: Interacts with DAXX (By similarity). Binds DNA as a
monomer. Binds TLE4. Interacts with ETS1, altering its DNA-binding
properties. {ECO:0000250, ECO:0000269|PubMed:10811620,
ECO:0000269|PubMed:11779502}.
-!- INTERACTION:
Q9NX04:C1orf109; NbExp=4; IntAct=EBI-296331, EBI-8643161;
Q03164:KMT2A; NbExp=2; IntAct=EBI-296331, EBI-2610266;
Q13952-2:NFYC; NbExp=4; IntAct=EBI-296331, EBI-11956831;
-!- SUBCELLULAR LOCATION: Nucleus.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=11;
Name=1;
IsoId=Q02548-1; Sequence=Displayed;
Name=2; Synonyms=delta9;
IsoId=Q02548-2; Sequence=VSP_044121;
Name=3; Synonyms=delta78;
IsoId=Q02548-3; Sequence=VSP_044117, VSP_044118, VSP_044120;
Name=4; Synonyms=delta789;
IsoId=Q02548-4; Sequence=VSP_044116, VSP_044120;
Name=5; Synonyms=delta8;
IsoId=Q02548-5; Sequence=VSP_044115;
Name=6; Synonyms=delta7;
IsoId=Q02548-6; Sequence=VSP_044119;
Name=7;
IsoId=Q02548-7; Sequence=VSP_047830;
Name=8;
IsoId=Q02548-8; Sequence=VSP_047828;
Name=9;
IsoId=Q02548-9; Sequence=VSP_047828, VSP_044121;
Name=10;
IsoId=Q02548-10; Sequence=VSP_047827, VSP_047831;
Name=11;
IsoId=Q02548-11; Sequence=VSP_047829, VSP_047832;
-!- DEVELOPMENTAL STAGE: Expressed at early B-cell differentiation, in
the developing CNS and in adult testis.
-!- PTM: O-glycosylated. {ECO:0000305}.
-!- DISEASE: Note=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.
{ECO:0000269|PubMed:17344859}.
-!- DISEASE: 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 lymphnodes.
{ECO:0000269|PubMed:24013638}. Note=Disease susceptibility is
associated with variations affecting the gene represented in this
entry.
-!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology
and Haematology;
URL="http://atlasgeneticsoncology.org/Genes/PAX5ID62.html";
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EMBL; M96944; AAA58397.1; -; mRNA.
EMBL; AY463952; AAR27590.1; -; mRNA.
EMBL; AY463953; AAR27591.1; -; mRNA.
EMBL; AY463954; AAR27592.1; -; mRNA.
EMBL; AY463955; AAR27593.1; -; mRNA.
EMBL; AY463956; AAR27594.1; -; mRNA.
EMBL; AY463957; AAR27595.1; -; mRNA.
EMBL; FJ626421; ACM91604.1; -; mRNA.
EMBL; FJ626422; ACM91605.1; -; mRNA.
EMBL; FJ626423; ACM91606.1; -; mRNA.
EMBL; FJ626424; ACM91607.1; -; mRNA.
EMBL; FJ626425; ACM91608.1; -; mRNA.
EMBL; EF064717; ABK41900.1; -; Genomic_DNA.
EMBL; AL161781; CAH72137.1; -; Genomic_DNA.
EMBL; AL450267; CAH72137.1; JOINED; Genomic_DNA.
EMBL; AL450267; CAH72740.1; -; Genomic_DNA.
EMBL; AL161781; CAH72740.1; JOINED; Genomic_DNA.
EMBL; CH471071; EAW58294.1; -; Genomic_DNA.
EMBL; CH471071; EAW58295.1; -; Genomic_DNA.
EMBL; CH471071; EAW58296.1; -; Genomic_DNA.
EMBL; CH471071; EAW58297.1; -; Genomic_DNA.
EMBL; CH471071; EAW58298.1; -; Genomic_DNA.
EMBL; CH471071; EAW58299.1; -; Genomic_DNA.
EMBL; DQ841178; ABI30005.1; ALT_TERM; mRNA.
EMBL; DQ845345; ABI33104.1; ALT_TERM; mRNA.
EMBL; DQ845346; ABI33105.1; ALT_TERM; mRNA.
EMBL; AF080573; AAC35286.1; -; mRNA.
CCDS; CCDS65041.1; -. [Q02548-10]
CCDS; CCDS65042.1; -. [Q02548-9]
CCDS; CCDS65043.1; -. [Q02548-8]
CCDS; CCDS65044.1; -. [Q02548-4]
CCDS; CCDS65045.1; -. [Q02548-3]
CCDS; CCDS65046.1; -. [Q02548-7]
CCDS; CCDS65047.1; -. [Q02548-6]
CCDS; CCDS65048.1; -. [Q02548-2]
CCDS; CCDS6607.1; -. [Q02548-1]
PIR; A44063; A44063.
RefSeq; NP_001267476.1; NM_001280547.1. [Q02548-6]
RefSeq; NP_001267477.1; NM_001280548.1. [Q02548-2]
RefSeq; NP_001267478.1; NM_001280549.1.
RefSeq; NP_001267479.1; NM_001280550.1.
RefSeq; NP_001267481.1; NM_001280552.1. [Q02548-7]
RefSeq; NP_001267482.1; NM_001280553.1. [Q02548-9]
RefSeq; NP_001267483.1; NM_001280554.1. [Q02548-8]
RefSeq; NP_001267484.1; NM_001280555.1. [Q02548-10]
RefSeq; NP_001267485.1; NM_001280556.1.
RefSeq; NP_057953.1; NM_016734.2. [Q02548-1]
UniGene; Hs.654464; -.
PDB; 1K78; X-ray; 2.25 A; A/E/I=1-149.
PDB; 1MDM; X-ray; 2.80 A; A=1-149.
PDBsum; 1K78; -.
PDBsum; 1MDM; -.
DisProt; DP00969; -.
ProteinModelPortal; Q02548; -.
SMR; Q02548; -.
BioGrid; 111113; 9.
ELM; Q02548; -.
IntAct; Q02548; 41.
STRING; 9606.ENSP00000350844; -.
iPTMnet; Q02548; -.
PhosphoSitePlus; Q02548; -.
BioMuta; PAX5; -.
DMDM; 417449; -.
PaxDb; Q02548; -.
PeptideAtlas; Q02548; -.
PRIDE; Q02548; -.
DNASU; 5079; -.
Ensembl; ENST00000358127; ENSP00000350844; ENSG00000196092. [Q02548-1]
Ensembl; ENST00000377840; ENSP00000367071; ENSG00000196092. [Q02548-5]
Ensembl; ENST00000377847; ENSP00000367078; ENSG00000196092. [Q02548-7]
Ensembl; ENST00000377852; ENSP00000367083; ENSG00000196092. [Q02548-6]
Ensembl; ENST00000377853; ENSP00000367084; ENSG00000196092. [Q02548-2]
Ensembl; ENST00000414447; ENSP00000412188; ENSG00000196092. [Q02548-8]
Ensembl; ENST00000446742; ENSP00000404687; ENSG00000196092. [Q02548-10]
Ensembl; ENST00000520281; ENSP00000430773; ENSG00000196092. [Q02548-9]
Ensembl; ENST00000523493; ENSP00000431038; ENSG00000196092. [Q02548-11]
GeneID; 5079; -.
KEGG; hsa:5079; -.
UCSC; uc003zzo.3; human. [Q02548-1]
CTD; 5079; -.
DisGeNET; 5079; -.
EuPathDB; HostDB:ENSG00000196092.12; -.
GeneCards; PAX5; -.
HGNC; HGNC:8619; PAX5.
HPA; CAB026269; -.
HPA; CAB026869; -.
HPA; HPA056394; -.
HPA; HPA068498; -.
MalaCards; PAX5; -.
MIM; 167414; gene.
MIM; 613065; phenotype.
neXtProt; NX_Q02548; -.
OpenTargets; ENSG00000196092; -.
Orphanet; 99860; Precursor B-cell acute lymphoblastic leukemia.
PharmGKB; PA32959; -.
eggNOG; KOG3862; Eukaryota.
eggNOG; ENOG410ZT0S; LUCA.
GeneTree; ENSGT00680000099553; -.
HOGENOM; HOG000230939; -.
HOVERGEN; HBG009115; -.
InParanoid; Q02548; -.
KO; K09383; -.
OMA; YSTYNDS; -.
OrthoDB; EOG091G0S4E; -.
PhylomeDB; Q02548; -.
TreeFam; TF315397; -.
Reactome; R-HSA-8939245; RUNX1 regulates transcription of genes involved in BCR signaling.
SignaLink; Q02548; -.
SIGNOR; Q02548; -.
ChiTaRS; PAX5; human.
EvolutionaryTrace; Q02548; -.
GeneWiki; PAX5; -.
GenomeRNAi; 5079; -.
PRO; PR:Q02548; -.
Proteomes; UP000005640; Chromosome 9.
Bgee; ENSG00000196092; -.
CleanEx; HS_PAX5; -.
ExpressionAtlas; Q02548; baseline and differential.
Genevisible; Q02548; HS.
GO; GO:0005829; C:cytosol; IDA:HPA.
GO; GO:0001650; C:fibrillar center; IDA:HPA.
GO; GO:0043231; C:intracellular membrane-bounded organelle; IDA:HPA.
GO; GO:0005654; C:nucleoplasm; IDA:HPA.
GO; GO:0000978; F:RNA polymerase II proximal promoter sequence-specific DNA binding; IEA:Ensembl.
GO; GO:0001077; F:transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding; IEA:Ensembl.
GO; GO:0030534; P:adult behavior; IEA:Ensembl.
GO; GO:0007568; P:aging; IEA:Ensembl.
GO; GO:0009887; P:animal organ morphogenesis; TAS:ProtInc.
GO; GO:0021987; P:cerebral cortex development; IEA:Ensembl.
GO; GO:0048701; P:embryonic cranial skeleton morphogenesis; IEA:Ensembl.
GO; GO:0006959; P:humoral immune response; TAS:ProtInc.
GO; GO:0021670; P:lateral ventricle development; IEA:Ensembl.
GO; GO:0007275; P:multicellular organism development; TAS:ProtInc.
GO; GO:0051573; P:negative regulation of histone H3-K9 methylation; IEA:Ensembl.
GO; GO:0000122; P:negative regulation of transcription from RNA polymerase II promoter; IEA:Ensembl.
GO; GO:0050855; P:regulation of B cell receptor signaling pathway; TAS:Reactome.
GO; GO:0035914; P:skeletal muscle cell differentiation; IEA:Ensembl.
GO; GO:0007283; P:spermatogenesis; IEA:UniProtKB-KW.
GO; GO:0006366; P:transcription from RNA polymerase II promoter; TAS:ProtInc.
CDD; cd00131; PAX; 1.
Gene3D; 1.10.10.10; -; 2.
InterPro; IPR009057; Homeobox-like_sf.
InterPro; IPR001523; Paired_dom.
InterPro; IPR022130; Pax2_C.
InterPro; IPR036388; WH-like_DNA-bd_sf.
Pfam; PF00292; PAX; 1.
Pfam; PF12403; Pax2_C; 1.
PRINTS; PR00027; PAIREDBOX.
SMART; SM00351; PAX; 1.
SUPFAM; SSF46689; SSF46689; 1.
PROSITE; PS00034; PAIRED_1; 1.
PROSITE; PS51057; PAIRED_2; 1.
1: Evidence at protein level;
3D-structure; Alternative splicing; Chromosomal rearrangement;
Complete proteome; Developmental protein; Differentiation;
Disease mutation; DNA-binding; Glycoprotein; Neurogenesis; Nucleus;
Paired box; Polymorphism; Proto-oncogene; Reference proteome;
Spermatogenesis; Transcription; Transcription regulation.
CHAIN 1 391 Paired box protein Pax-5.
/FTId=PRO_0000050183.
DOMAIN 16 142 Paired. {ECO:0000255|PROSITE-
ProRule:PRU00381}.
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.
VAR_SEQ 71 136 Missing (in isoform 10).
{ECO:0000303|PubMed:19725825}.
/FTId=VSP_047827.
VAR_SEQ 159 201 Missing (in isoform 8 and isoform 9).
{ECO:0000303|PubMed:19725825}.
/FTId=VSP_047828.
VAR_SEQ 261 391 TTEYSAMASLAGGLDDMKANLASPTPADIGSSVPGPQSYPI
VTGRDLASTTLPGYPPHVPPAGQGSYSAPTLTGMVPGSEFS
GSPYSHPQYSSYNDSWRFPNPGLLGSPYYYSAAARGAAPPA
AATAYDRH -> AVTWRARPSPGTLHTSPPLDRAATQHRR
(in isoform 5).
{ECO:0000303|PubMed:15385562}.
/FTId=VSP_044115.
VAR_SEQ 261 315 TTEYSAMASLAGGLDDMKANLASPTPADIGSSVPGPQSYPI
VTGRDLASTTLPGY -> APPIIIALPPEE (in
isoform 4).
{ECO:0000303|PubMed:15385562}.
/FTId=VSP_044116.
VAR_SEQ 261 307 TTEYSAMASLAGGLDDMKANLASPTPADIGSSVPGPQSYPI
VTGRDL -> WCPVLMRQYLVQPQAVLFQAVTWRARPSPGT
LHTSPPLDRAATQHRR (in isoform 11).
{ECO:0000303|PubMed:19725825}.
/FTId=VSP_047829.
VAR_SEQ 261 282 TTEYSAMASLAGGLDDMKANLA -> GVSFPGVPTATLSIP
RTTTPGG (in isoform 3).
{ECO:0000303|PubMed:15385562}.
/FTId=VSP_044117.
VAR_SEQ 286 315 PADIGSSVPGPQSYPIVTGRDLASTTLPGY -> RGCLAPP
IIIALPPEE (in isoform 3).
{ECO:0000303|PubMed:15385562}.
/FTId=VSP_044118.
VAR_SEQ 304 366 Missing (in isoform 7).
{ECO:0000303|PubMed:19725825}.
/FTId=VSP_047830.
VAR_SEQ 304 337 Missing (in isoform 10).
{ECO:0000303|PubMed:19725825}.
/FTId=VSP_047831.
VAR_SEQ 305 349 RDLASTTLPGYPPHVPPAGQGSYSAPTLTGMVPGSEFSGSP
YSHP -> SEFSGSPYSHP (in isoform 6).
{ECO:0000303|PubMed:15385562}.
/FTId=VSP_044119.
VAR_SEQ 308 391 Missing (in isoform 11).
{ECO:0000303|PubMed:19725825}.
/FTId=VSP_047832.
VAR_SEQ 319 391 VPPAGQGSYSAPTLTGMVPGSEFSGSPYSHPQYSSYNDSWR
FPNPGLLGSPYYYSAAARGAAPPAAATAYDRH -> LQPPL
PMTVTDPWSQAGTKH (in isoform 3 and isoform
4). {ECO:0000303|PubMed:15385562}.
/FTId=VSP_044120.
VAR_SEQ 338 366 Missing (in isoform 2 and isoform 9).
{ECO:0000303|PubMed:15385562,
ECO:0000303|PubMed:19725825}.
/FTId=VSP_044121.
VARIANT 24 24 G -> R (in dbSNP:rs868494257).
{ECO:0000269|PubMed:24013638}.
/FTId=VAR_070672.
VARIANT 26 26 V -> G (in dbSNP:rs926053251).
{ECO:0000269|PubMed:24013638}.
/FTId=VAR_070673.
VARIANT 34 34 P -> Q. {ECO:0000269|PubMed:24013638}.
/FTId=VAR_070674.
VARIANT 53 53 D -> V. {ECO:0000269|PubMed:24013638}.
/FTId=VAR_070675.
VARIANT 59 59 R -> G. {ECO:0000269|PubMed:24013638}.
/FTId=VAR_070676.
VARIANT 66 66 S -> N. {ECO:0000269|PubMed:24013638}.
/FTId=VAR_070677.
VARIANT 75 75 T -> R. {ECO:0000269|PubMed:24013638}.
/FTId=VAR_070678.
VARIANT 80 80 P -> R. {ECO:0000269|PubMed:24013638}.
/FTId=VAR_070679.
VARIANT 139 139 I -> T. {ECO:0000269|PubMed:24013638}.
/FTId=VAR_070680.
VARIANT 151 151 V -> I (in dbSNP:rs115889954).
{ECO:0000269|PubMed:24013638}.
/FTId=VAR_070681.
VARIANT 183 183 G -> S (in ALL3; confers susceptibility
to ALL3; reduced transcription factor
activity; dbSNP:rs398123063).
{ECO:0000269|PubMed:24013638}.
/FTId=VAR_070682.
VARIANT 183 183 G -> V. {ECO:0000269|PubMed:24013638}.
/FTId=VAR_070683.
VARIANT 213 213 S -> L (in dbSNP:rs137870876).
{ECO:0000269|PubMed:24013638}.
/FTId=VAR_070684.
VARIANT 301 301 I -> T (in dbSNP:rs372989600).
{ECO:0000269|PubMed:24013638}.
/FTId=VAR_070685.
VARIANT 322 322 A -> T (in dbSNP:rs34810717).
/FTId=VAR_034370.
VARIANT 338 338 G -> V. {ECO:0000269|PubMed:24013638}.
/FTId=VAR_070686.
CONFLICT 99 99 I -> F (in Ref. 8; AAC35286).
{ECO:0000305}.
CONFLICT 141 143 TKV -> PKL (in Ref. 8; AAC35286).
{ECO:0000305}.
HELIX 35 46 {ECO:0000244|PDB:1K78}.
HELIX 51 58 {ECO:0000244|PDB:1K78}.
HELIX 62 75 {ECO:0000244|PDB:1K78}.
STRAND 89 91 {ECO:0000244|PDB:1K78}.
HELIX 93 105 {ECO:0000244|PDB:1K78}.
HELIX 111 120 {ECO:0000244|PDB:1K78}.
TURN 126 128 {ECO:0000244|PDB:1K78}.
HELIX 132 140 {ECO:0000244|PDB:1K78}.
SEQUENCE 391 AA; 42149 MW; DB37E6EACD9F993A CRC64;
MDLEKNYPTP RTSRTGHGGV NQLGGVFVNG RPLPDVVRQR IVELAHQGVR PCDISRQLRV
SHGCVSKILG RYYETGSIKP GVIGGSKPKV ATPKVVEKIA EYKRQNPTMF AWEIRDRLLA
ERVCDNDTVP SVSSINRIIR TKVQQPPNQP VPASSHSIVS TGSVTQVSSV STDSAGSSYS
ISGILGITSP SADTNKRKRD EGIQESPVPN GHSLPGRDFL RKQMRGDLFT QQQLEVLDRV
FERQHYSDIF TTTEPIKPEQ TTEYSAMASL AGGLDDMKAN LASPTPADIG SSVPGPQSYP
IVTGRDLAST TLPGYPPHVP PAGQGSYSAP TLTGMVPGSE FSGSPYSHPQ YSSYNDSWRF
PNPGLLGSPY YYSAAARGAA PPAAATAYDR H


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