| Gene Symbol |
NPHP3
|
| Entrez Gene |
27031
|
| Alt Symbol |
CFAP31, MKS7, NPH3, RHPD, RHPD1, SLSN3
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
nephronophthisis 3 (adolescent)
|
| Other Description |
Meckel syndrome, type 7|cilia and flagella associated protein 31|nephrocystin-3
|
| Swissprots |
Q5JPE6 Q8N9R2 Q6NVH3 Q7Z493 Q68D99 Q96NK2 Q96N70 Q7Z494 Q5JPE3 Q8NCM5 Q7Z492
|
| Accessions |
CCQ43874 EAW79187 Q7Z494 AB056657 AI200954 AK055253 BAB70891 AK055893 BAB71038 AK092910 AK093012 BAC04018 AK094015 BAC04268 AL832863 CAI46200 AL832877 CAI46202 AY257864 AAP83423 AY257865 AAP83424 AY257866 AAP83425 BC063277 BC068082 AAH68082 BC131729 BC172279 AAI72279 CR749498 CAH18321 DB114822 EB387619 NM_153240 NP_694972
|
| Function |
Required for normal ciliary development and function. Inhibits disheveled-1-induced canonical Wnt-signaling activity and may also play a role in the control of non-canonical Wnt signaling which regulates planar cell polarity. Probably acts as a molecular switch between different Wnt signaling pathways. Required for proper convergent extension cell movements. {ECO:0000269|PubMed:18371931}.
|
| Subcellular Location |
Cell projection, cilium {ECO:0000269|PubMed:20462968, ECO:0000269|PubMed:22085962}. Note=Localization to cilium is mediated via interaction with UNC119 and UNC119B, which bind to the myristoyl moiety of the N- terminus.
|
| Tissue Specificity |
Widely expressed at low level. Expressed in heart, placenta, liver, skeletal muscle, kidney and pancreas. Expressed at very low level in brain and lung. {ECO:0000269|PubMed:12872122}.
|
