| Type | Description |
|---|---|
| Definition | ciliogenesis and planar polarity effector 1 |
| Date | Results | Publications |
|---|---|---|
| 2021-02-06 13:55:00 | Salivary CPLANE1 Levels as a Biomarker of Oral Squamous Cell Carcinoma. | 33517281 |
| 2020-06-27 11:53:00 | The proband with Jouber syndrome of family 2 was found to harbor compound heterozygous variants of the CPLANE1 gene, namely c.7243dupA (p.T2415Nfs*7) and c.8001delG (p.K2667Nfs*31), which can respectively lead to premature termination of translation of ciliogenesis and planar polarity effector 1 after the 2145th and 2667th amino acids | 32335874 |
| 2020-04-04 12:18:00 | JBTS17 contributes to mitotic progression by interacting with LIS1, and abnormal mitosis is an underlying mechanism in JBTS17-related ciliopathies. | 31004438 |
| 2018-12-22 11:55:00 | Seven novel germline recessive mutations in CPLANE1, including missense, nonsense, frameshift and canonical splice site variants, were identified in OFD6 patients. | 29605658 |
| 2018-02-24 11:42:00 | In C5orf42-mutant Joubert syndrome patients, the infratentorial magnetic resonance images showed normal or minimally thickened and minimally elongated superior cerebellar peduncles, normal or minimally deepened interpeduncular fossa, and mild vermian hypoplasia. | 28431631 |
| Type | IDs |
|---|---|
| Synonymous | C5orf42, Hug, JBTS17, OFD6 |
| Gene |
UniProtKB-ID:
CPLN1_HUMAN
UniprotKB:
Q9H799
UniParc:
UPI0001AAB3EA,
UPI00026C464E
EMBL:
AC025449,
BC028410,
AK024779,
BC074774,
AK096581,
BC150594,
AK026735,
AK023293,
AC008925,
BC144069
Ensembl:
ENSG00000197603
KO:
hsa:65250
|
| Nucleutide sequences |
EMBL-CDS:
AAH74774.2,
AAI50595.1,
AAI44070.1,
AAH28410.1,
BAB14999.1,
BAB15539.1,
BAC04822.1,
BAB14513.1
Ensembl_TRS:
ENST00000508244,
ENST00000425232
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000421690,
ENSP00000389014
RefSeq:
XP_016865254.1,
XP_005248407.1,
XP_016865255.1,
XP_011512388.1,
XP_011512396.1,
XP_011512394.1,
XP_011512392.1,
XP_011512390.1,
XP_016865249.1,
XP_024301953.1,
XP_016865250.1,
XP_024301952.1,
XP_016865252.1,
XP_005248404.1,
XP_011512387.1,
NP_001371661.1,
XP_024301951.1,
XP_005248406.1,
XP_006714554.1,
NP_075561.3,
XP_005248403.1,
XP_024301954.1,
XP_011512389.1,
XP_011512391.1
|
| Others |
UniRef100:
UniRef100_Q9H799
UniRef90:
UniRef90_Q9H799
UniRef50:
UniRef50_Q9H799
UniGene:
Hs.586199
CCDS:
CCDS34146.2
|
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|---|---|---|---|---|---|---|---|---|
| Refseq |
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