| Gene Symbol |
TMEM67
|
| Entrez Gene |
91147
|
| Alt Symbol |
JBTS6, MECKELIN, MKS3, NPHP11, TNEM67
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
transmembrane protein 67
|
| Other Description |
Meckelin|meckel syndrome type 3 protein
|
| Swissprots |
G5E9H2 B3KRU5 Q3ZCX3 Q8IZ06 Q5HYA8 Q7Z5T8 B3KT47
|
| Accessions |
EAW91701 EAW91702 EAW91703 Q5HYA8 AK026742 AK092244 BAG52507 AK094935 BAG52959 AK297676 BAG60037 AK308071 AK308735 BC017974 BC031220 BC032835 AAH32835 BC054338 BM310097 BX648768 CAI45999 DA928293 DC368894 JF432845 ADZ16062 XM_006716686 XP_006716749 XM_006716687 XP_006716750 XM_011517363 XP_011515665 XR_428387 XR_928360 XR_928361 XR_928362 NM_001142301 NP_001135773 NM_153704 NP_714915 NR_024522
|
| Function |
Required for ciliary structure and function. Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition (By similarity). Involved in centrosome migration to the apical cell surface during early ciliogenesis. Involved in the regulation of cilia length and appropriate number through the control of centrosome duplication. Required for cell branching morphology. Essential for endoplasmic reticulum-associated degradation (ERAD) of surfactant protein C (SFTPC). {ECO:0000250, ECO:0000269|PubMed:17185389, ECO:0000269|PubMed:19515853, ECO:0000269|PubMed:19596800, ECO:0000269|PubMed:19815549}.
|
| Subcellular Location |
Cell membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane; Multi-pass membrane protein. Cytoplasm, cytoskeleton, cilium basal body. Note=Localizes at the transition zone, a region between the basal body and the ciliary axoneme. {ECO:0000250}.
|
| Tissue Specificity |
Widely expressed in adult and fetal tissues. Expressed at higher level in spinal cord. {ECO:0000269|PubMed:16415887, ECO:0000269|PubMed:17185389}.
|
