ROR1

Developmental stage

Expressed at high levels during early embryonic development. The expression levels drop strongly around day 16 and there are only very low levels in adult tissues.

Function

Has very low kinase activity in vitro and is unlikely to function as a tyrosine kinase in vivo (PubMed:25029443). Receptor for ligand WNT5A which activate downstream NFkB signaling pathway and may result in the inhibition of WNT3A-mediated signaling (PubMed:25029443, PubMed:27162350). In inner ear, crucial for spiral ganglion neurons to innervate auditory hair cells (PubMed:27162350). Via IGFBP5 ligand, forms a complex with ERBB2 to enhance CREB oncogenic signaling (PubMed:36949068).

Involvement in disease

Deafness, autosomal recessive, 108

DFNB108

A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.

None

The disease is caused by variants affecting the gene represented in this entry.

Sequence Similarities

Belongs to the protein kinase superfamily. Tyr protein kinase family. ROR subfamily.

Tissue Specificity

Expressed strongly in human heart, lung and kidney, but weakly in the CNS. Isoform Short is strongly expressed in fetal and adult CNS and in a variety of human cancers, including those originating from CNS or PNS neuroectoderm.

Cellular localization

• Membrane
• Single-pass type I membrane protein
• Cell projection
• Axon

Alternative names

NTRKR1, ROR1, Inactive tyrosine-protein kinase transmembrane receptor ROR1

Database links

swissprot:Q01973 omim:602336 entrezGene:4919

Other research areas

• Immuno-oncology