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gli-3 proto-oncogene protein

Function: - plays a role in limb & brain development - implicated in the transduction of SHH signal (putative) Structure: - belongs to the GLI C2H2-type Zn+2-finger protein family - contains 5 C2H2-type Zn+2 fingers Compartment: nucleus Expression: - expressed in a wide variety of normal adult tissues, including lung, colon, spleen, placenta, testis, & myometrium Pathology: - defects in GLI3 are the cause of a) Greig cephalo-poly-syndactyly syndrome b) Pallister-Hall syndrome c) type A1/B postaxial polydactyly d) preaxial polydactyly type-4 e) acrocallosal syndrome

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gli-3 proto-oncogene

General

GLI-Krueppel family protein

Properties

SIZE: entity length = 1580 aa MW = 170 kD COMPARTMENT: cell nucleus MOTIF: Ser phosphorylation site {S19} Zn finger C2H2-type SITE: 480-505 EFFECTOR-BOUND: Zn+2 Zn finger C2H2-type SITE: 513-540 EFFECTOR-BOUND: Zn+2 Zn finger C2H2-type SITE: 546-570 EFFECTOR-BOUND: Zn+2 Zn finger C2H2-type SITE: 576-601 EFFECTOR-BOUND: Zn+2 Zn finger C2H2-type SITE: 607-632 EFFECTOR-BOUND: Zn+2 acidic region {1492-1512} MOTIF: acidic residue (SEVERAL)

Database Correlations

OMIM correlations MORBIDMAP 165240 UniProt P10071 Pfam PF00096 Entrez Gene 2737 Kegg hsa:2737

References

  1. UniProt :accession P10071
  2. Entrez Gene :accession 2737
  3. GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=GLI3