Property Summary

NCBI Gene PubMed Count 120
Grant Count 1,177
R01 Count 756
Funding $148,047,162.52
PubMed Score 1388.06
PubTator Score 227.33

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession P10071 A4D1W1 O75219 Q17RW4 Q75MT0 Q75MU9 Q9UDT5 Q9UJ39
Symbols PHS
ACLS
GCPS
PAPA
PAPB
PAP-A
PAPA1
PPDIV
GLI3FL
GLI3-190

Gene

PDB

4BLD  

Gene RIF (72)

PMID Text
26515020 To date, at least ten loci and four non-syndromic polydactyly-causing genes, including the GLI3 gene, the ZNF141 gene, the MIPOL1 gene and the PITX1 gene, have been identified. (Review)
26290227 from ESCs and induced pluripotent stem cells. SIGNIFICANCE STATEMENT: Our study presents a rapid and efficient protocol to generate human motoneurons from embryonic and induced pluripotent stem cells.
26261006 Identify mutations that increase GLI activity in patients with Hirschsprung disease.
25714367 We report on a patient with GCPS caused by a novel GLI3 mutation.
25278022 Fu ubiquitination and cleavage is one of the key elements connecting the MID1-PP2A protein complex with GLI3 activity control
25267529 Data identifies a His601Arg mutation in the ZFD domain of GLI3 leading to phenotypic variability including an isolated limb phenotype in a jewish family.
25103784 High expression of GLI1 mRNA was associated with advanced lung adenocarcinoma.
24819706 GLI3 mutation is associated with esophageal atresia.
24667698 the role of GLI3 in a significant fraction of patients with non-syndromic bilateral polydactyly affecting both hands and feet
24608427 This newly identified miR-506/Gli3 axis provides further insight into the pathogenesis of cervical cancer and indicates a potential novel therapeutic agent for the treatment of cervical cancer.
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AA Sequence

MEAQSHSSTTTEKKKVENSIVKCSTRTDVSEKAVASSTTSNEDESPGQTYHRERRNAITMQPQNVQGLSK      1 - 70
VSEEPSTSSDERASLIKKEIHGSLPHVAEPSVPYRGTVFAMDPRNGYMEPHYHPPHLFPAFHPPVPIDAR     71 - 140
HHEGRYHYDPSPIPPLHMTSALSSSPTYPDLPFIRISPHRNPTAASESPFSPPHPYINPYMDYIRSLHSS    141 - 210
PSLSMISATRGLSPTDAPHAGVSPAEYYHQMALLTGQRSPYADIIPSAATAGTGAIHMEYLHAMDSTRFS    211 - 280
SPRLSARPSRKRTLSISPLSDHSFDLQTMIRTSPNSLVTILNNSRSSSSASGSYGHLSASAISPALSFTY    281 - 350
SSAPVSLHMHQQILSRQQSLGSAFGHSPPLIHPAPTFPTQRPIPGIPTVLNPVQVSSGPSESSQNKPTSE    351 - 420
SAVSSTGDPMHNKRSKIKPDEDLPSPGARGQQEQPEGTTLVKEEGDKDESKQEPEVIYETNCHWEGCARE    421 - 490
FDTQEQLVHHINNDHIHGEKKEFVCRWLDCSREQKPFKAQYMLVVHMRRHTGEKPHKCTFEGCTKAYSRL    491 - 560
ENLKTHLRSHTGEKPYVCEHEGCNKAFSNASDRAKHQNRTHSNEKPYVCKIPGCTKRYTDPSSLRKHVKT    561 - 630
VHGPEAHVTKKQRGDIHPRPPPPRDSGSHSQSRSPGRPTQGALGEQQDLSNTTSKREECLQVKTVKAEKP    631 - 700
MTSQPSPGGQSSCSSQQSPISNYSNSGLELPLTDGGSIGDLSAIDETPIMDSTISTATTALALQARRNPA    701 - 770
GTKWMEHVKLERLKQVNGMFPRLNPILPPKAPAVSPLIGNGTQSNNTCSLGGPMTLLPGRSDLSGVDVTM    771 - 840
LNMLNRRDSSASTISSAYLSSRRSSGISPCFSSRRSSEASQAEGRPQNVSVADSYDPISTDASRRSSEAS    841 - 910
QSDGLPSLLSLTPAQQYRLKAKYAAATGGPPPTPLPNMERMSLKTRLALLGDALEPGVALPPVHAPRRCS    911 - 980
DGGAHGYGRRHLQPHDAPGHGVRRASDPVRTGSEGLALPRVPRFSSLSSCNPPAMATSAEKRSLVLQNYT    981 - 1050
RPEGGQSRNFHSSPCPPSITENVTLESLTMDADANLNDEDFLPDDVVQYLNSQNQAGYEQHFPSALPDDS   1051 - 1120
KVPHGPGDFDAPGLPDSHAGQQFHALEQPCPEGSKTDLPIQWNEVSSGSADLSSSKLKCGPRPAVPQTRA   1121 - 1190
FGFCNGMVVHPQNPLRSGPAGGYQTLGENSNPYGGPEHLMLHNSPGSGTSGNAFHEQPCKAPQYGNCLNR   1191 - 1260
QPVAPGALDGACGAGIQASKLKSTPMQGSGGQLNFGLPVAPNESAGSMVNGMQNQDPVGQGYLAHQLLGD   1261 - 1330
SMQHPGAGRPGQQMLGQISATSHINIYQGPESCLPGAHGMGSQPSSLAVVRGYQPCASFGGSRRQAMPRD   1331 - 1400
SLALQSGQLSDTSQTCRVNGIKMEMKGQPHPLCSNLQNYSGQFYDQTVGFSQQDTKAGSFSISDASCLLQ   1401 - 1470
GTSAKNSELLSPGANQVTSTVDSLDSHDLEGVQIDFDAIIDDGDHSSLMSGALSPSIIQNLSHSSSRLTT   1471 - 1540
PRASLPFPALSMSTTNMAIGDMSSLLTSLAEESKFLAVMQ                                 1541 - 1580
//

Text Mined References (125)

PMID Year Title
26515020 2015 Advances in the molecular genetics of non-syndromic polydactyly.
26290227 2015 Retinoic Acid-Mediated Regulation of GLI3 Enables Efficient Motoneuron Derivation from Human ESCs in the Absence of Extrinsic SHH Activation.
26261006 2015 Identification of GLI Mutations in Patients With Hirschsprung Disease That Disrupt Enteric Nervous System Development in Mice.
25714367 2015 Novel GLI3 mutation in a Greek-Cypriot patient with Greig cephalopolysyndactyly syndrome.
25278022 2014 The E3 ubiquitin ligase MID1 catalyzes ubiquitination and cleavage of Fu.
25267529 2014 A novel GLI3 mutation affecting the zinc finger domain leads to preaxial-postaxial polydactyly-syndactyly complex.
25241761 2014 Using an in situ proximity ligation assay to systematically profile endogenous protein-protein interactions in a pathway network.
25103784 2014 Expression of the GLI family genes is associated with tumor progression in advanced lung adenocarcinoma.
24819706 2014 De novo GLI3 mutation in esophageal atresia: reproducing the phenotypic spectrum of Gli3 defects in murine models.
24667698 2014 Novel frame-shift mutations of GLI3 gene in non-syndromic postaxial polydactyly patients.
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