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Gene set: V$PAX6_01 (C3:TFAC:0056)
Standard nameV$PAX6_01
Systematic nameC3:TFAC:0056
Brief descriptionGenes with 3'UTR containing motif NNNNTTCACGCWTGANTKNNN which matches annotation for PAX6: paired box gene 6 (aniridia, keratitis)
CategoryC3: Motif
Sub-categoryTFAC: Transfac
Full description or Abstract

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XX
 XX
 XX
 FA Pax-6
 XX
 SY AN2; PAX6; hPax-6;
hPax6.
 XX
 OS human, Homo sapiens
 OC eukaryota; animalia;
metazoa; chordata; vertebrata; tetrapoda; mammalia;
 OC eutheria;
primates
 XX
 XX
 CL C0018; paired-homeo; 3.2.1.0.3.

XX
 SZ 422 AA; 46.6 kDa (cDNA)
 XX
 XX
 SC SwissProt
#P26367
 XX
 FT 4 128 paired domain.
 FT 4 128 PF00292;
PAX.
 FT 4 128 SM00351; PAX.
 FT 129 209 glycine-/glutamine-rich
region (23/71).
 FT 210 269 homeo domain.
 FT 210 272 SM00389;
HOX.
 FT 211 267 PF00046; homeobox.
 FT 279 419 proline-/serine-/threonine-rich
region (69/141).
 XX
 SF free in solution, the paired domain
is unstructured [2];
 SF it is alpha-helically folded upon
DNA-binding [2];
 SF splice variant Pd-5a has a 14-AA insert
within the paired domain, after
 SF position 47 [4];
 SF
this insertion unmasks the DNA-binding capability of the C-terminal
part of
 SF the paired domain [3];
 SF its DNA-binding specificity
differs from that of normal Pax-6 [3];
 XX
 EX brain,,,adult;detectable;
RT-PCR; RNA (undefined); [1].
 EX cornea,,,adult;high; RT-PCR;
RNA (undefined); [1].
 EX lens epithelium,,,adult;very high;
RT-PCR; RNA (undefined); [1].
 EX pancreas,,,adult;detectable;
RT-PCR; RNA (undefined); [1].
 EX primary lens fibres,,,adult;very
low; RT-PCR; RNA (undefined); [1].
 EX retina,,,adult;very
high; RT-PCR; RNA (undefined); [1].
 EX secondary lens fibres,,,adult;very
low; RT-PCR; RNA (undefined); [1].
 XX
 FF activator [3];

FF mutations may cause aniridia (AN, partial or complete absence
of iris) [5]
 FF [4];
 FF alteration of the ratio of both
splice variants by mutations near the Pd-5a
 FF splice acceptor
site may cause an ocular syndrome distinct from AN [3];
 XX

XX
 XX
 XX
 RN [1]; RE0022605.
 RX MEDLINE; 11172136.

RA Zhang W., Cveklova K., Oppermann B., Kantorow M., Cvekl A.

RT Quantitation of PAX6 and PAX6(5a) transcript levels in adult
human lens,
 RT cornea, and monkey retina.
 RL Mol. Vis.
7:1-5 (2001).
 RN [2]; RE0002969.
 RX MEDLINE; 94179217.

RA Epstein J., Cai J., Glaser T., Jepeal L., Maas R.
 RT Identification
of a Pax paired domain recognition sequence and evidence for

RT DNA-dependent conformational changes
 RL J. Biol. Chem.
269:8355-8361 (1994).
 RN [3]; RE0004260.
 RX MEDLINE; 95047352.

RA Epstein J. A., Glaser T., Cai J., Jepeal L., Walton D. S.,
Maas R. L.
 RT Two independent and interactive DNA-binding
subdomains of the Pax6 paired
 RT domain are regulated by alternative
splicing
 RL Genes Dev. 8:2022-2034 (1994).
 RN [4]; RE0004259.

RX MEDLINE; 94258210.
 RA Glaser T., Walton D. S., Maas R.
L.
 RT The human homolog of the paired box gene Pax-6 is mutated
in aniridia
 RL Nat. Genet. 2:232-239 (1992).
 RN [5]; RE0004256.

RX MEDLINE; 92103673.
 RA Ton C. C. T., Hirvonen H., Miwa H.,
Weil M. M., Monaghan P., Jordan T., van
 RA Heyningen V., Hastie
N. D., Meijers-Heijboer H., Drechsler M., Royer-Pokora
 RA
B., Collins F., Swaroop A., Strong L. C., Saunders G. F.
 RT
Positional cloning and characterization of a paired box- and

RT homeobox-containing gene from the aniridia region
 RL Cell
67:1059-1074 (1991).
 XX
Publication URLna
External linksna
Keywords & MeSH headingsna
OrganismHuman,Mouse,Rat,Dog
Contributed byBroad Institute
Source platformSeq_Accession
Downloadgrp|xml|map
Genes

102 genes, 102 accessions (Toggle view)

AccessionGeneTitleLinks
RHOBTB3RHOBTB3Rho-related BTB domain containing 3Source|GeneCards
C10ORF11C10ORF11chromosome 10 open reading frame 11Source|GeneCards
SUMO1SUMO1SMT3 suppressor of mif two 3 homolog 1 (yeast)Source|GeneCards
C1ORF21C1ORF21chromosome 1 open reading frame 21Source|GeneCards
SOX4SOX4SRY (sex determining region Y)-box 4Source|GeneCards
ZNF288ZBTB20zinc finger and BTB domain containing 20Source|GeneCards
ARHGAP26ARHGAP26Rho GTPase activating protein 26Source|GeneCards
ZBED2ZBED2zinc finger, BED domain containing 2Source|GeneCards
LMO3LMO3LIM domain only 3 (rhombotin-like 2)Source|GeneCards
PGBD4PGBD4piggyBac transposable element derived 4Source|GeneCards
MAML3MAML3Mastermind-like 3 (Drosophila)Source|GeneCards
HADH2HADH2hydroxyacyl-Coenzyme A dehydrogenase, type IISource|GeneCards
BHLHB5BHLHB5basic helix-loop-helix domain containing, class B, 5Source|GeneCards
GW112OLFM4olfactomedin 4Source|GeneCards
RRM1RRM1ribonucleotide reductase M1 polypeptideSource|GeneCards
TAX1BP3TAX1BP3Tax1 (human T-cell leukemia virus type I) binding protein 3Source|GeneCards
LHFPL1LHFPL1lipoma HMGIC fusion partner-like 1Source|GeneCards
SP7SP7Sp7 transcription factorSource|GeneCards
GPM6AGPM6Aglycoprotein M6ASource|GeneCards
LOC51057LOC51057hypothetical protein LOC51057Source|GeneCards
DKK2DKK2dickkopf homolog 2 (Xenopus laevis)Source|GeneCards
ERGERGv-ets erythroblastosis virus E26 oncogene like (avian)Source|GeneCards
XKRXXKRXX Kell blood group precursor-related, X-linkedSource|GeneCards
LOC388389LOC388389Similar to RIKEN 4933439F11Source|GeneCards
SNX26SNX26sorting nexin 26Source|GeneCards
STOML2STOML2stomatin (EPB72)-like 2Source|GeneCards
HRKHRKharakiri, BCL2 interacting protein (contains only BH3 domain)Source|GeneCards
SLC26A6SLC26A6solute carrier family 26, member 6Source|GeneCards
SLC5A3SLC5A3solute carrier family 5 (inositol transporters), member 3Source|GeneCards
TITF1TITF1thyroid transcription factor 1Source|GeneCards
FLJ30277FLJ30277hypothetical protein FLJ30277Source|GeneCards
ITGB3BPITGB3BPintegrin beta 3 binding protein (beta3-endonexin)Source|GeneCards
TRERF1TRERF1transcriptional regulating factor 1Source|GeneCards
RORBRORBRAR-related orphan receptor BSource|GeneCards
SERPINI1SERPINI1serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 1Source|GeneCards
C8ORF20C8ORF20chromosome 8 open reading frame 20Source|GeneCards
LRRN5LRRN5leucine rich repeat neuronal 5Source|GeneCards
SLC6A5SLC6A5Solute carrier family 6 (neurotransmitter transporter, glycine), member 5Source|GeneCards
SH2D1ASH2D1ASH2 domain protein 1A, Duncan's disease (lymphoproliferative syndrome)Source|GeneCards
RRAGARRAGARas-related GTP binding ASource|GeneCards
FIP1L1FIP1L1FIP1 like 1 (S. cerevisiae)Source|GeneCards
ACVR2ACVR2activin A receptor, type IISource|GeneCards
H2AFZH2AFZH2A histone family, member ZSource|GeneCards
SDPRSDPRserum deprivation response (phosphatidylserine binding protein)Source|GeneCards
JMJD1CJMJD1Cjumonji domain containing 1CSource|GeneCards
CPA4CPA4carboxypeptidase A4Source|GeneCards
FILIP1FILIP1filamin A interacting protein 1Source|GeneCards
NFYBNFYBnuclear transcription factor Y, betaSource|GeneCards
TCF4TCF4Transcription factor 4Source|GeneCards
LOC56851LOC56851chromosome 15 hypothetical ATG/GTP binding proteinSource|GeneCards
LOC283439LOC283439hypothetical protein LOC283439Source|GeneCards
HMGA1HMGA1high mobility group AT-hook 1Source|GeneCards
USP9XUSP9Xubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)Source|GeneCards
PDGFRAPDGFRAplatelet-derived growth factor receptor, alpha polypeptideSource|GeneCards
FLI1FLI1Friend leukemia virus integration 1Source|GeneCards
TWIST1TWIST1twist homolog 1 (acrocephalosyndactyly 3; Saethre-Chotzen syndrome) (Drosophila)Source|GeneCards
KCNN3KCNN3potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3Source|GeneCards
ETV1ETV1ets variant gene 1Source|GeneCards
CHRDL1CHRDL1chordin-like 1Source|GeneCards
PDCD10PDCD10programmed cell death 10Source|GeneCards
C5ORF11C5ORF11chromosome 5 open reading frame 11Source|GeneCards
DMDDMDdystrophin (muscular dystrophy, Duchenne and Becker types)Source|GeneCards
MGC29814MGC29814hypothetical protein MGC29814Source|GeneCards
UBE2NUBE2Nubiquitin-conjugating enzyme E2N (UBC13 homolog, yeast)Source|GeneCards
NOX4NOX4NADPH oxidase 4Source|GeneCards
DSCAMDSCAMDown syndrome cell adhesion moleculeSource|GeneCards
MGC2963MGC2963hypothetical protein MGC2963Source|GeneCards
PHOX2BPHOX2Bpaired-like homeobox 2bSource|GeneCards
MBNL1MBNL1muscleblind-like (Drosophila)Source|GeneCards
SLC39A13SLC39A13solute carrier family 39 (zinc transporter), member 13Source|GeneCards
TEAD1TEAD1TEA domain family member 1 (SV40 transcriptional enhancer factor)Source|GeneCards
RTN4RL1RTN4RL1reticulon 4 receptor-like 1Source|GeneCards
SRPK2SRPK2SFRS protein kinase 2Source|GeneCards
KIF12KIF12kinesin family member 12Source|GeneCards
JARID2JARID2Jumonji, AT rich interactive domain 2Source|GeneCards
FLJ43965CCDC4coiled-coil domain containing 4Source|GeneCards
DKFZP762A217DKFZP762A217hypothetical protein DKFZp762A217Source|GeneCards
BAZ1ABAZ1Abromodomain adjacent to zinc finger domain, 1ASource|GeneCards
SERTAD4SERTAD4SERTA domain containing 4Source|GeneCards
FSTL5FSTL5follistatin-like 5Source|GeneCards
CKLFSF4CKLFSF4chemokine-like factor super family 4Source|GeneCards
OVOL1OVOL1ovo-like 1(Drosophila)Source|GeneCards
SOSTDC1SOSTDC1sclerostin domain containing 1Source|GeneCards
GLRA1GLRA1glycine receptor, alpha 1 (startle disease/hyperekplexia, stiff man syndrome)Source|GeneCards
PTPN4PTPN4protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)Source|GeneCards
GNAZGNAZguanine nucleotide binding protein (G protein), alpha z polypeptideSource|GeneCards
CXORF1CXORF1chromosome X open reading frame 1Source|GeneCards
OTPOTPorthopedia homolog (Drosophila)Source|GeneCards
TIAF1TIAF1TGFB1-induced anti-apoptotic factor 1Source|GeneCards
JPH1JPH1junctophilin 1Source|GeneCards
MAP1DMAP1Dmethionine aminopeptidase 1DSource|GeneCards
LMNALMNAlamin A/CSource|GeneCards
CHD6CHD6chromodomain helicase DNA binding protein 6Source|GeneCards
C9ORF42C9ORF42chromosome 9 open reading frame 42Source|GeneCards
YARSYARStyrosyl-tRNA synthetaseSource|GeneCards
HNRPA0HNRPA0heterogeneous nuclear ribonucleoprotein A0Source|GeneCards
CNTFRCNTFRciliary neurotrophic factor receptorSource|GeneCards
POU2AF1POU2AF1POU domain, class 2, associating factor 1Source|GeneCards
OA48-18
U5-116KDEFTUD2elongation factor Tu GTP binding domain containing 2Source|GeneCards
TAF5TAF5TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDaSource|GeneCards
MAP2K5MAP2K5mitogen-activated protein kinase kinase 5Source|GeneCards

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