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Gene set: CGTSACG_V$PAX3_B (C3:REPM:0159)
Standard nameCGTSACG_V$PAX3_B
Systematic nameC3:REPM:0159
Brief descriptionGenes with 3'UTR containing motif CGTSACG which matches annotation for PAX3: paired box gene 3 (Waardenburg syndrome 1)
CategoryC3: Motif
Sub-categoryREPM: Representative motifs
Full description or Abstract

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XX
 XX
 XX
 FA Pax-3
 XX
 SY HuP2 (human); PAX3;
mPax-3; mPax3.
 XX
 OS mouse, Mus musculus
 OC eukaryota;
animalia; metazoa; chordata; vertebrata; tetrapoda; mammalia;

OC eutheria; rodentia; myomorpha; muridae; murinae
 XX

XX
 CL C0018; paired-homeo; 3.2.1.0.2.
 XX
 SZ 479 AA;
53.0 kDa (cDNA), 56 kDa (SDS) [20]
 XX
 XX
 SC SwissProt
#P24610
 XX
 FT 1 90 transcription inhibiting region [14].

FT 34 159 paired domain.
 FT 34 159 PF00292; PAX.
 FT 34
159 SM00351; PAX.
 FT 219 278 homeo domain.
 FT 219 281
SM00389; HOX.
 FT 220 276 PF00046; homeobox.
 FT 291 478
proline-/serine-/threonine-rich region (79/188).
 FT 402 479
transcription activating region [14].
 XX
 SF independent
DNA-binding by paired and homeo domain contacting ATTA and

SF GTTCC motifs, resp. [12];
 SF variable spacing of the subsites
[13];
 SF paired domain induces conformational change in the
DNA [12];
 SF homodimerization upon DNA-binding through residues
between paired and homeo
 SF domain [12];
 SF altered DNA-binding
or homodimerization in Splotch mutants [12];
 SF Kr value to
the binding domain (e5) of the CD19 promoter=1.3EXP4 [9];

SF mutation in paired domain (Splotch) reduces binding by factor
17 and can
 SF also reduce homeodomain binding activity (factor
21) [9];
 SF interaction with HIRA by the use of the homeodomain
[2];
 SF interaction with pRB-family proteins (pRB, p107, p130)
mediated by helix I
 SF and helix II of the homeodomain [3];

XX
 CP 8.5-d embryos: mitotic cells in the ventricular zone
of developing spinal
 CP chord; some regions in hindbrain,
midbrain, diencephalon; 10-12-d embryos:
 CP neural crest of
developing spinal ganglia, cranofacial mesectoderm, limb
 CP
mesenchyme (10-11 d) [20]
 CN differentiated neuronal cells
[1]
 XX
 FF activator (fused to GAL4-DNA binding domain)
[14];
 FF mutations may cause Splotch (pigmentation abnormalities
in iris and hair,
 FF eye displacement, exencephaly, spina
bifida, lack of limb musculature) [21]
 FF [19], e. g. G42R
[12] or point mutation causing aberrant splicing [17];
 FF
expression is detected between embryonic day 8.5 and 14.5 [20]
[15] [16];
 FF absence of Sonic hedgehog (Shh) blocks expression
of Pax-3/7 [4];
 FF Pax-3 maintains neural progenitor cells
undifferentiated [1];
 FF interaction with pRB-family proteins
(pRB, p107, p130) causes repression of
 FF transcription [3];

FF inhibition of the myogenic differentiation in cultered myoblast
cells
 FF (C2C12 cells) [8];
 FF necessary for migration
but not differentiation of limb muscle precursors
 FF [6];

FF stimulation of c-met expression during limb muscle development
[7] [5];
 FF may play a critical role as a repressor in the
place-dependent expression
 FF of Ng-CAM (neuron-glia cell
adhesion molecule) in the nervous system [11];
 XX
 IN T02956;
HIRA; mouse, Mus musculus.
 IN T02971; p107; mouse, Mus musculus.

IN T01608; p130; human, Homo sapiens.
 IN T02972; p130; mouse,
Mus musculus.
 IN T00680; Pax-3; mouse, Mus musculus.
 IN
T01423; pRb; mouse, Mus musculus.
 XX
 XX
 XX
 XX

RN [1]; RE0014025.
 RX MEDLINE; 98133329.
 RA Reeves F.
C., Fredericks W. J., Rauscher F. J. 3rd, Lillycrop K. A.

RT The DNA binding activity of the paired box transcription factor
Pax-3 is
 RT rapidly downregulated during neuronal cell differentiation

RL FEBS Lett. 422:118-122 (1998).
 RN [2]; RE0014075.
 RX
MEDLINE; 98400262.
 RA Magnaghi P., Roberts C., Lorain S.,
Lipinski M., Scambler P. J.
 RT HIRA, a mammalian homologue
of Saccharomyces cerevisiae transcriptional
 RT co-repressors,
interacts with Pax3
 RL Nat. Genet. 20:74-77 (1998).
 RN
[3]; RE0014085.
 RX MEDLINE; 98124188.
 RA Wiggan O., Taniguchi-Sidle
A., Hamel P. A.
 RT Interaction of the pRB-family proteins
with factors containing paired-like
 RT homeodomains
 RL
Oncogene 16:227-236 (1998).
 RN [4]; RE0006702.
 RX MEDLINE;
97083577.
 RA Ericson J., Morton S., Kawakami A., Roelink H.,
Jessell T. M.
 RT Two critical periods of Sonic Hedgehog signaling
required for the
 RT specification of motor neuron identity

RL Cell 87:661-673 (1996).
 RN [5]; RE0007031.
 RX MEDLINE;
96210620.
 RA Epstein J. A., Shapiro D. N., Cheng J., Lam P.
Y. P., Maas R. L.
 RT Pax3 modulates expression of the c-Met
receptor during limb muscle
 RT development.
 RL Proc. Natl.
Acad. Sci. USA 93:4213-4218 (1996).
 RN [6]; RE0014110.

RX MEDLINE; 96194059.
 RA Daston G., Lamar E., Olivier M.,
Goulding M.
 RT Pax-3 is necessary for migration but not differentiation
of limb muscle
 RT precursors in the mouse
 RL Development
122:1017-1027 (1996).
 RN [7]; RE0014112.
 RX MEDLINE; 96281660.

RA Yang X. M., Vogan K., Gros P., Park M.
 RT Expression of
the met receptor tyrosine kinase in muscle progenitor cells

RT in somites and limbs is absent in Splotch mice
 RL Development
122:2163-2171 (1996).
 RN [8]; RE0004248.
 RX MEDLINE; 95263503.

RA Epstein J. A., Lam P., Jepeal L., Maas R. L., Shapiro D. N.

RT Pax3 inhibits myogenic differentiation of cultured myoblast
cells
 RL J. Biol. Chem. 270:11719-11722 (1995).
 RN [9];
RE0010761.
 RX MEDLINE; 95249539.
 RA Underhill D. A., Vogan
K. J., Gros P.
 RT Analysis of the mouse Splotch-delayed mutation
indicates that the Pax-3
 RT paired domain can influence homeodomain
DNA-binding activity
 RL Proc. Natl. Acad. Sci. USA 92:3692-3696
(1995).
 RN [10]; RE0014013.
 RX MEDLINE; 96032355.

RA Chalepakis G., Gruss P.
 RT Identification of DNA recognition
sequences for the Pax3 paired domain
 RL Gene 162:267-270 (1995).

RN [11]; RE0015185.
 RX MEDLINE; 95403367.
 RA Kallunki
P., Jenkinson S., Edelman G. M., Jones F. S.
 RT Silencer elements
modulate the expression of the gene for the neuron-glia
 RT
cell adhesion molecule, Ng-CAM
 RL J. Biol. Chem. 270:21291-21298
(1995).
 RN [12]; RE0004245.
 RX MEDLINE; 94224806.

RA Chalepakis G., Goulding M., Read A., Strachan T., Gruss P.

RT Molecular basis of splotch and Waardenburg Pax-3 mutations

RL Proc. Natl. Acad. Sci. USA 91:3685-3689 (1994).
 RN [13];
RE0004246.
 RX MEDLINE; 94344776.
 RA Chalepakis G., Wijnholds
J., Gruss P.
 RT Pax-3 - DNA interaction: flexibility in the
DNA binding and induction of
 RT DNA conformational changes
by paired domains
 RL Nucleic Acids Res. 22:3131-3137 (1994).

RN [14]; RE0004247.
 RX MEDLINE; 95108035.
 RA Chalepakis
G., Jones F. S., Edelman G. M., Gruss P.
 RT Pax-3 contains
domains for transcription activation and transcription
 RT
inhibition
 RL Proc. Natl. Acad. Sci. USA 91:12745-12749 (1994).

RN [15]; RE0004249.
 RX MEDLINE; 94215499.
 RA Bober E.,
Franz T., Arnold H. H., Gruss P., Tremblay P.
 RT Pax-3 is
required for the development of limb muscles: a possible role
for
 RT the migration of dermomyotomal muscle progenitor cells

RL Development 120:603-612 (1994).
 RN [16]; RE0004250.

RX MEDLINE; 95324381.
 RA Goulding M., Lumsden A., Paquette
A. J.
 RT Regulation of Pax-3 expression in the dermomyotome
and its role in muscle
 RT development
 RL Development 120:957-971
(1994).
 RN [17]; RE0004215.
 RX MEDLINE; 93133822.

RA Epstein D. J., Vogan K. J., Trasler D. G., Gros P.
 RT A
mutation within intron 3 of the Pax-3 gene produces aberrantly
spliced
 RT mRNA transcripts in the splotch (Sp) mouse mutant

RL Proc. Natl. Acad. Sci. USA 90:532-536 (1993).
 RN [18];
RE0004244.
 RX MEDLINE; 93285106.
 RA Maulbecker C. C.,
Gruss P.
 RT The oncogenic potential of Pax genes
 RL EMBO
J. 12:2361-2367 (1993).
 RN [19]; RE0004254.
 RX MEDLINE;
94010930.
 RA Vogan K. J., Epstein D. J., Trasler D. G., Gros
P.
 RT The splotch-delayed (Spd) mouse mutant carries a point
mutation within the
 RT paired box of the Pax-3 gene
 RL
Genomics 17:364-369 (1993).
 RN [20]; RE0002795.
 RX MEDLINE;
91216108.
 RA Goulding M. D., Chalepakis G., Deutsch U., Erselius
J. R., Gruss P.
 RT Pax-3, a novel murine DNA binding protein
expressed during early
 RT neurogenesis
 RL EMBO J. 10:1135-1147
(1991).
 RN [21]; RE0004253.
 RX MEDLINE; 92034997.

RA Epstein D. J., Vekemans M., Gros P.
 RT Splotch (Sp2H),
a mutation affecting development of the mouse neural tube,

RT shows a deletion within the paired homeodomain of Pax-3

RL Cell 67:767-774 (1991).
 XX
Publication URLna
External linksna
Keywords & MeSH headingsna
OrganismHuman,Mouse,Rat,Dog
Contributed byBroad Institute
Source platformSeq_Accession
Downloadgrp|xml|map
Genes

151 genes, 151 accessions (Toggle view)

AccessionGeneTitleLinks
C11ORF30C11ORF30chromosome 11 open reading frame 30Source|GeneCards
EGR3EGR3early growth response 3Source|GeneCards
GTF2H1GTF2H1general transcription factor IIH, polypeptide 1, 62kDaSource|GeneCards
MRRFMRRFmitochondrial ribosome recycling factorSource|GeneCards
MGC11308MGC11308hypothetical protein MGC11308Source|GeneCards
ZNF288ZBTB20zinc finger and BTB domain containing 20Source|GeneCards
RASD1RASD1RAS, dexamethasone-induced 1Source|GeneCards
BCL11BBCL11BB-cell CLL/lymphoma 11B (zinc finger protein)Source|GeneCards
FOXD3FOXD3forkhead box D3Source|GeneCards
HABP4HABP4hyaluronan binding protein 4Source|GeneCards
ZZEF1ZZEF1zinc finger, ZZ-type with EF-hand domain 1Source|GeneCards
SOAT1SOAT1sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1Source|GeneCards
PPM2CPPM2Cprotein phosphatase 2C, magnesium-dependent, catalytic subunitSource|GeneCards
EGR1EGR1early growth response 1Source|GeneCards
GGA1GGA1golgi associated, gamma adaptin ear containing, ARF binding protein 1Source|GeneCards
ZFHX1BZFHX1Bzinc finger homeobox 1bSource|GeneCards
STXBP1STXBP1syntaxin binding protein 1Source|GeneCards
TAF11TAF11TAF11 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 28kDaSource|GeneCards
SLC18A2SLC18A2solute carrier family 18 (vesicular monoamine), member 2Source|GeneCards
RBM18RBM18RNA binding motif protein 18Source|GeneCards
EN2EN2engrailed homolog 2Source|GeneCards
GEMGEMGTP binding protein overexpressed in skeletal muscleSource|GeneCards
CANXCANXcalnexinSource|GeneCards
NAB2NAB2NGFI-A binding protein 2 (EGR1 binding protein 2)Source|GeneCards
ELOVL5ELOVL5ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)Source|GeneCards
BIG1ARFGEF1ADP-ribosylation factor guanine nucleotide-exchange factor 1(brefeldin A-inhibited)Source|GeneCards
HPS5HPS5Hermansky-Pudlak syndrome 5Source|GeneCards
PITX2PITX2paired-like homeodomain transcription factor 2Source|GeneCards
RAD51CRAD51CRAD51 homolog C (S. cerevisiae)Source|GeneCards
NKX2-3NKX2-3NK2 transcription factor related, locus 3 (Drosophila)Source|GeneCards
PEX11GPEX11Gperoxisomal biogenesis factor 11 gammaSource|GeneCards
EGR4EGR4early growth response 4Source|GeneCards
SUPT16HSUPT16Hsuppressor of Ty 16 homolog (S. cerevisiae)Source|GeneCards
ANKS1ANKS1ankyrin repeat and sterile alpha motif domain containing 1Source|GeneCards
NDUFB2NDUFB2NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2, 8kDaSource|GeneCards
PPP1R3DPPP1R3Dprotein phosphatase 1, regulatory subunit 3DSource|GeneCards
FLJ12750VPS37Bvacuolar protein sorting 37B (yeast)Source|GeneCards
TEX14TEX14testis expressed sequence 14Source|GeneCards
CRY1CRY1cryptochrome 1 (photolyase-like)Source|GeneCards
RNF146RNF146ring finger protein 146Source|GeneCards
SLC38A2SLC38A2solute carrier family 38, member 2Source|GeneCards
NRKNRKNik related kinaseSource|GeneCards
KIAA0082KIAA0082KIAA0082Source|GeneCards
ARP3BETAACTR3BARP3 actin-related protein 3 homolog B (yeast)Source|GeneCards
MAB21L1MAB21L1mab-21-like 1 (C. elegans)Source|GeneCards
ZZZ3ZZZ3zinc finger, ZZ-type containing 3Source|GeneCards
USP8USP8ubiquitin specific protease 8Source|GeneCards
RBBP8RBBP8retinoblastoma binding protein 8Source|GeneCards
MCFPMCFPmitochondrial carrier family proteinSource|GeneCards
NOL4NOL4nucleolar protein 4Source|GeneCards
NR4A1NR4A1nuclear receptor subfamily 4, group A, member 1Source|GeneCards
FLJ45187FLJ45187FLJ45187 proteinSource|GeneCards
KIAA0251KIAA0251KIAA0251 proteinSource|GeneCards
GKGKGlycerol kinaseSource|GeneCards
MASTLMASTLmicrotubule associated serine/threonine kinase-likeSource|GeneCards
MGC29643LYPD1LY6/PLAUR domain containing 1Source|GeneCards
CHGBCHGBchromogranin B (secretogranin 1)Source|GeneCards
HTATIPHTATIPHIV-1 Tat interactive protein, 60kDaSource|GeneCards
NEUROD2NEUROD2neurogenic differentiation 2Source|GeneCards
ZFYZFYzinc finger protein, Y-linkedSource|GeneCards
SULT4A1SULT4A1sulfotransferase family 4A, member 1Source|GeneCards
C14ORF127NUBPLNucleotide binding protein-likeSource|GeneCards
PHACTR3PHACTR3Phosphatase and actin regulator 3Source|GeneCards
PAK2PAK2p21 (CDKN1A)-activated kinase 2Source|GeneCards
PEPDPEPDpeptidase DSource|GeneCards
XBP1XBP1X-box binding protein 1Source|GeneCards
EDEM1EDEM1ER degradation enhancer, mannosidase alpha-like 1Source|GeneCards
RAB7RAB7RAB7, member RAS oncogene familySource|GeneCards
WSB1WSB1SOCS box-containing WD protein SWiP-1Source|GeneCards
ANKHD1ANKHD1Eukaryotic translation initiation factor 4E binding protein 3Source|GeneCards
IRX6IRX6iroquois homeobox protein 6Source|GeneCards
PLK2PLK2polo-like kinase 2 (Drosophila)Source|GeneCards
CASKCASKcalcium/calmodulin-dependent serine protein kinase (MAGUK family)Source|GeneCards
PTPN23PTPN23protein tyrosine phosphatase, non-receptor type 23Source|GeneCards
POLBPOLBpolymerase (DNA directed), betaSource|GeneCards
YME1L1YME1L1YME1-like 1 (S. cerevisiae)Source|GeneCards
EPC1EPC1enhancer of polycomb homolog 1, (Drosophila)Source|GeneCards
MGC35521PELI3pellino 3 alphaSource|GeneCards
HMOX2HMOX2heme oxygenase (decycling) 2Source|GeneCards
FLJ12666C1ORF108chromosome 1 open reading frame 108Source|GeneCards
ASKASKactivator of S phase kinaseSource|GeneCards
VPS26VPS26vacuolar protein sorting 26 (yeast)Source|GeneCards
RAD9ARAD9ARAD9 homolog A (S. pombe)Source|GeneCards
LTBP1LTBP1latent transforming growth factor beta binding protein 1Source|GeneCards
TRIB1TRIB1tribbles homolog 1 (Drosophila)Source|GeneCards
PTMAPTMAprothymosin, alpha (gene sequence 28)Source|GeneCards
AF5Q31AFF4AF4/FMR2 family, member 4Source|GeneCards
RFT1RFT1putative endoplasmic reticulum multispan transmembrane proteinSource|GeneCards
HOXC10HOXC10homeo box C10Source|GeneCards
SMARCA5SMARCA5SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5Source|GeneCards
CX36CX36connexin-36Source|GeneCards
KCNE4KCNE4potassium voltage-gated channel, Isk-related family, member 4Source|GeneCards
PLEKHE1PLEKHE1pleckstrin homology domain containing, family E (with leucine rich repeats) member 1Source|GeneCards
IPO7IPO7importin 7Source|GeneCards
PNRC1PNRC1proline-rich nuclear receptor coactivator 1Source|GeneCards
EHD4EHD4EH-domain containing 4Source|GeneCards
SBBI54SBBI54hypothetical transmembrane protein SBBI54Source|GeneCards
MASK-BP3MASK-BP3MASK-4E-BP3 alternate reading frame geneSource|GeneCards
DKFZP434K1421DKFZP434K1421hypothetical protein DKFZp434K1421Source|GeneCards
CBX6CBX6chromobox homolog 6Source|GeneCards
NR4A2NR4A2nuclear receptor subfamily 4, group A, member 2Source|GeneCards
RELBRELBv-rel reticuloendotheliosis viral oncogene homolog B, nuclear factor of kappa light polypeptide gene enhancer in B-cells 3 (avian)Source|GeneCards
MGC14376MGC14376hypothetical protein MGC14376Source|GeneCards
MGC32124MGC32124hypothetical protein MGC32124Source|GeneCards
BA108L7.2BA108L7.2similar to rat tricarboxylate carrier-like proteinSource|GeneCards
PPT2PPT2palmitoyl-protein thioesterase 2Source|GeneCards
FLJ21019FLJ21019hypothetical protein FLJ21019Source|GeneCards
WDR23WDR23WD repeat domain 23Source|GeneCards
BHLHB2BHLHB2basic helix-loop-helix domain containing, class B, 2Source|GeneCards
TNRC15TNRC15trinucleotide repeat containing 15Source|GeneCards
N-PACN-PACcytokine-like nuclear factor n-pacSource|GeneCards
PCNPPCNPPEST-containing nuclear proteinSource|GeneCards
HSCARGHSCARGHSCARG proteinSource|GeneCards
SLC25A3SLC25A3solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3Source|GeneCards
CUL5CUL5cullin 5Source|GeneCards
EIF4EEIF4Eeukaryotic translation initiation factor 4ESource|GeneCards
C20ORF177C20ORF177chromosome 20 open reading frame 177Source|GeneCards
ADAM10ADAM10a disintegrin and metalloproteinase domain 10Source|GeneCards
IKBKBIKBKBinhibitor of kappa light polypeptide gene enhancer in B-cells, kinase betaSource|GeneCards
FLJ33817FLJ33817hypothetical protein FLJ33817Source|GeneCards
TSPYL5TSPYL5TSPY-like 5Source|GeneCards
PDZK7PDZK7PDZ domain containing 7Source|GeneCards
TPARLTPARLTPA regulated locusSource|GeneCards
C21ORF63C21ORF63chromosome 21 open reading frame 63Source|GeneCards
NSGNL3guanine nucleotide binding protein-like 3 (nucleolar)Source|GeneCards
SLC6A12SLC6A12solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12Source|GeneCards
NICE-3C1ORF43chromosome 1 open reading frame 43Source|GeneCards
FLJ20308FLJ20308hypothetical protein FLJ20308Source|GeneCards
DHX36DHX36DEAH (Asp-Glu-Ala-His) box polypeptide 36Source|GeneCards
HMGN1HMGN1high-mobility group nucleosome binding domain 1Source|GeneCards
BCL11ABCL11AB-cell CLL/lymphoma 11A (zinc finger protein)Source|GeneCards
MGC10471MGC10471hypothetical protein MGC10471Source|GeneCards
BRAFBRAFv-raf murine sarcoma viral oncogene homolog B1Source|GeneCards
CTCFCTCFCCCTC-binding factor (zinc finger protein)Source|GeneCards
AP2B1AP2B1adaptor-related protein complex 2, beta 1 subunitSource|GeneCards
FTHFSDC1MTHFD1Lmethylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-likeSource|GeneCards
PPP2R1APPP2R1Aprotein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoformSource|GeneCards
ZNF6ZNF6zinc finger protein 6 (CMPX1)Source|GeneCards
PB1PB1polybromo 1Source|GeneCards
KIAA0669TSC22D2TSC22 domain family, member 2Source|GeneCards
HOXA9HOXA9homeo box A9Source|GeneCards
GYGGYGglycogeninSource|GeneCards
SMARCE1SMARCE1SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1Source|GeneCards
CDC14BCDC14BCDC14 cell division cycle 14 homolog B (S. cerevisiae)Source|GeneCards
GNASGNASGNAS complex locusSource|GeneCards
PIAS4PIAS4protein inhibitor of activated STAT, 4Source|GeneCards
MGC4399MGC4399mitochondrial carrier proteinSource|GeneCards
CDKN1ACDKN1Acyclin-dependent kinase inhibitor 1A (p21, Cip1)Source|GeneCards
PDPRPDPRpyruvate dehydrogenase phosphatase regulatory subunitSource|GeneCards
EGR2EGR2early growth response 2 (Krox-20 homolog, Drosophila)Source|GeneCards
MINKKCNE1potassium voltage-gated channel, Isk-related family, member 1Source|GeneCards

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