| Type | Description |
|---|---|
| Definition | intraflagellar transport 140 |
| Date | Results | Publications |
|---|---|---|
| 2020-06-20 11:48:00 | This study for the first time reported IFT140 variants that cause infertility in humans. | 31397098 |
| 2020-06-13 10:42:00 | Role of IFT140 in Osteogenesis of Adult Mice Long Bone | 31034313 |
| 2019-06-15 11:40:00 | we demonstrated the implication of structural variations in IFT140-related diseases expanding its mutation spectrum. We also provide evidences for a unique genomic event mediated by an Alu-Alu recombination occurring on a shared haplotype. | 29688594 |
| 2019-03-16 10:36:00 | Compound heterozygous variants in IFT140 NM_014714.3: c.4182G>C p.(Thr1394Thr) and c.212C>T p.(Pro71Leu) were identified, and confirmed by Sanger sequencing. | 29111861 |
| 2018-05-26 11:40:00 | A maternally inherited homozygous biallelic mutation altering the exon 6 splice donor site in IFT140 gene causes Mainzer-Saldino syndrome. | 28724397 |
| Type | IDs |
|---|---|
| Synonymous | MZSDS, RP80, SRTD9, WDTC2, c305C8.4, c380F5.1, gs114 |
| Gene |
UniProtKB-ID:
IF140_HUMAN
UniprotKB:
Q96RY7
UniParc:
UPI000006D7E9,
UPI0000073C64
EMBL:
AL133297,
AL080069,
CH471112,
Z97652,
AL031719,
Z97633,
AE006467,
AB011162,
AL031705,
BC035577
Ensembl:
ENSG00000187535
KO:
hsa:9742
|
| Nucleutide sequences |
EMBL-CDS:
CAB45696.1,
AAK61285.1,
BAA25516.2,
AAH35577.1,
EAW85642.1,
EAW85644.1
Ensembl_TRS:
ENST00000361339,
ENST00000426508
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000406012,
ENSP00000354895
RefSeq:
XP_016879400.1,
XP_005255783.1,
XP_006721053.1,
XP_011521073.1,
XP_011521069.1,
XP_006721055.1,
XP_011521071.1,
XP_005255782.1,
XP_011521074.1,
XP_011521068.1,
NP_055529.2,
XP_006721054.1,
XP_016879399.1
|
| Others |
UniRef100:
UniRef100_Q96RY7
UniRef90:
UniRef90_Q96RY7
UniRef50:
UniRef50_Q96RY7
UniGene:
Hs.389438
CCDS:
CCDS10439.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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