| Type | Description |
|---|---|
| Definition | OFD1 centriole and centriolar satellite protein |
| Date | Results | Publications |
|---|---|---|
| 2021-02-06 13:59:00 | A rare mutant of OFD1 gene responsible for Joubert syndrome with significant phenotype variation. | 32944789 |
| 2020-12-19 13:38:00 | The centrosomal/basal body protein OFD1 is required for microtubule organization and cell cycle progression. | 32473706 |
| 2020-06-20 12:50:00 | s clinicians consider the presence or absence of conditions allelic at OFD1, PCD should be considered part of the spectrum of OFD1-related disorders. Understanding the OFD1-related disease spectrum may allow for more focused genetic testing and more timely management of treatable sequelae. | 31373179 |
| 2020-06-20 11:45:00 | Truncations of the C-terminal part of OFD1 (exons 16-22) almost invariably cause a respiratory phenotype. | 31366608 |
| 2020-06-13 11:38:00 | this is the first clinical report of a live born male with JS and OFD features secondary to a novel pathogenic variant in OFD1 gene that resulted in a complete pituitary aplasia and subsequent severe hypoplasia of peripheral endocrine glands. | 30895720 |
| Type | IDs |
|---|---|
| Synonymous | 71-7A, CXorf5, JBTS10, RP23, SGBS2 |
| Gene |
UniProtKB-ID:
OFD1_HUMAN,
A6NF31_HUMAN,
E9KL37_HUMAN
UniprotKB:
O75665,
A6NF31,
E9KL37
UniParc:
UPI000050ED7A,
UPI000002B015,
UPI0000130C40,
UPI000059DAC8
EMBL:
GU727634,
CH471074,
AC003037,
Y15164,
Y16355,
BC096344
Ensembl:
ENSG00000046651
KO:
hsa:8481
|
| Nucleutide sequences |
EMBL-CDS:
CAA75436.1,
CAA76185.1,
AAH96344.1,
EAW98835.1,
ADU87636.1
Gene_ORFName:
hCG_1981836
Ensembl_TRS:
ENST00000340096,
ENST00000380550,
ENST00000380567
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000344314,
ENSP00000369923,
ENSP00000369941
RefSeq:
NP_003602.1,
XP_011543899.1,
NP_001317139.1,
XP_024308239.1,
XP_016885398.1,
XP_011543900.1,
XP_024308236.1,
XP_011543896.1,
NP_001317138.1,
XP_005274663.1,
XP_024308237.1,
XP_024308238.1,
XP_011543897.1,
XP_016885400.1,
XP_011543894.1
|
| Others |
UniRef100:
UniRef100_O75665
UniRef90:
UniRef90_O75665
UniRef50:
UniRef50_O75665
UniGene:
Hs.6483
CCDS:
CCDS14157.1,
CCDS83454.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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