| Gene Symbol |
PKHD1
|
| Entrez Gene |
5314
|
| Alt Symbol |
ARPKD, FCYT, TIGM1
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
polycystic kidney and hepatic disease 1 (autosomal recessive)
|
| Other Description |
TIG multiple domains 1|fibrocystin|polycystic kidney and hepatic disease 1 protein|polyductin|tigmin
|
| Swissprots |
Q5VUA2 P08F94 Q8TCZ9 Q5VUA3 Q86Z26 Q5VWV1
|
| Accessions |
AAM93492 EAX04359 EAX04360 P08F94 AF480064 AAM44232 AK091971 BAC03782 AK128031 AY074797 AAL74290 AY092083 AAM18186 BX538137 BX647896 XM_011514679 XP_011512981 XM_011514680 XP_011512982 XM_011514681 XP_011512983 XM_011514682 XP_011512984 XM_011514683 XP_011512985 XM_011514684 XP_011512986 XM_011514685 XP_011512987 XM_011514686 XP_011512988 XM_011514687 XP_011512989 XM_011514688 XP_011512990 XM_011514689 XP_011512991 XM_011514690 XP_011512992 XM_011514691 XP_011512993 NM_138694 NP_619639 NM_170724 NP_733842
|
| Function |
May be required for correct bipolar cell division through the regulation of centrosome duplication and mitotic spindle assembly. May be a receptor protein that acts in collecting-duct and biliary differentiation. {ECO:0000269|PubMed:20554582}.
|
| Subcellular Location |
Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Cytoplasm, cytoskeleton, cilium basal body. Cell projection, cilium. Cytoplasm, cytoskeleton, spindle. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome.
|
| Tissue Specificity |
Predominantly expressed in fetal and adult kidney. In the kidney, it is found in the cortical and medullary collecting ducts. Also present in the adult pancreas, but at much lower levels. Detectable in fetal and adult liver. Rather indistinct signal in fetal brain. {ECO:0000269|PubMed:14978161, ECO:0000269|PubMed:15458427}.
|