Recombinant Human Kinesin-like protein KIF7 (KIF7), Truncated

Uniprot Id

Q2M1P5

Target Species

Human

Target Name

KIF7

Target Full Name

Kinesin-like protein KIF7

Target Function

Essential for hedgehog signaling regulation: acts as both a negative and positive regulator of sonic hedgehog (Shh) and Indian hedgehog (Ihh) pathways, acting downstream of SMO, through both SUFU-dependent and -independent mechanisms. Involved in the regulation of microtubular dynamics. Required for proper organization of the ciliary tip and control of ciliary localization of SUFU-GLI2 complexes. Required for localization of GLI3 to cilia in response to Shh. Negatively regulates Shh signaling by preventing inappropriate activation of the transcriptional activator GLI2 in the absence of ligand. Positively regulates Shh signaling by preventing the processing of the transcription factor GLI3 into its repressor form. In keratinocytes, promotes the dissociation of SUFU-GLI2 complexes, GLI2 nuclear translocation and Shh signaling activation. Involved in the regulation of epidermal differentiation and chondrocyte development.

Target Involvement

Bardet-Biedl syndrome (BBS); Hydrolethalus syndrome 2 (HLS2); Acrocallosal syndrome (ACLS); Joubert syndrome 12 (JBTS12); Al-Gazali-Bakalinova syndrome (AGBK)

Target Subcellular Location

Cell projection, cilium. Cytoplasm, cytoskeleton, cilium basal body. Note=Localizes to the cilium tip.

Target Protein Families

TRAFAC class myosin-kinesin ATPase superfamily, Kinesin family, KIF27 subfamily

Target Tissue Specificity

Embryonic stem cells, melanotic melanoma and Jurkat T-cells. Expressed in heart, lung, liver, kidney, testis, retina, placenta, pancreas, colon, small intestin, prostate and thymus.

Target Synonyms

EQYK340; kif7; KIF7_HUMAN; kinesin family member 7; kinesin like protein KIF7; Kinesin-like protein kif7; UNQ340

Target Background

This gene encodes a cilia-associated protein belonging to the kinesin family. This protein plays a role in the sonic hedgehog (SHH) signaling pathway through the regulation of GLI transcription factors. It functions as a negative regulator of the SHH pathway by preventing inappropriate activation of GLI2 in the absence of ligand, and as a positive regulator by preventing the processing of GLI3 into its repressor form. Mutations in this gene have been associated with various ciliopathies.