| Type | Description |
|---|---|
| Definition | intraflagellar transport 122 |
| Date | Results | Publications |
|---|---|---|
| 2019-07-13 10:21:00 | This study demonstrated that the mutation in SPG 7 gene caused autosomal recessive hereditary spastic paraparesis. | 29057857 |
| 2019-04-06 10:24:00 | The C11ORF74, interacts with the IFT-A complex via the IFT122 subunit and is accumulated at the distal tip in the absence of an IFT-A subunit IFT139, suggesting that at least a fraction of C11ORF74 molecules can be transported towards the ciliary tip by associating with the IFT-A complex, although its majority might be out of cilia at steady state. | 30476139 |
| 2019-03-09 11:36:00 | IFT122 mutations associated with cranioectodermal dysplasia 1 cause defects in ciliary protein trafficking, but not ciliogenesis when expressed in cells lacking endogenous IFT122 (IFT122 KO). | 29220510 |
| 2017-11-26 01:24:00 | All the nine probands with syndromic craniosynostosis were found to carry the possibly causative variants, among which three variants including two missense mutations in IFT122 gene, in SMC1A gene and a frameshift mutation in TWIST1 gene have never been reported in patients before. | 29037998 |
| 2017-05-13 19:31:00 | Using a panel of skeletal dysplasias genes, including 11 related to SRP, we identified biallelic mutations in IFT122 in a fetus with a typical phenotype of SRP-IV, finally confirmed that this phenotype is a ciliopathy and adding to the list of ciliopathies with major skeletal involvement. | 28370949 |
| Type | IDs |
|---|---|
| Synonymous | CED, CED1, SPG, WDR10, WDR10p, WDR140 |
| Gene |
UniProtKB-ID:
IF122_HUMAN,
B4DST2_HUMAN,
B3KUD1_HUMAN
UniprotKB:
Q9HBG6,
B4DST2,
B3KUD1
UniParc:
UPI00000732EA,
UPI000006E33C,
UPI0004EFFC71,
UPI00017A6CA7,
UPI00003E5FCB,
UPI0004EFFC73,
UPI00017A7C6D,
UPI0000141061,
UPI0002064E79,
UPI0001D3BC8E,
UPI0000EE2210,
UPI0000141042
EMBL:
AF302154,
BC028353,
AK124140,
AK299903,
AK096891,
AF244931,
BC004238,
AK223095,
AK298526,
AK001759,
AF244930,
AC080007,
AK293852,
BC003045,
AL449212,
CH471052
Ensembl:
ENSG00000163913
KO:
hsa:55764
|
| Nucleutide sequences |
EMBL-CDS:
BAG60729.1,
AAH28353.1,
AAG15428.1,
AAG15427.1,
EAW79247.1,
AAG13415.1,
EAW79246.1,
AAH03045.2,
BAG54015.1,
AAH04238.1,
BAG57250.1,
EAW79249.1,
BAA91888.1,
BAD96815.1,
EAW79250.1,
BAG61744.1,
BAG53393.1
Ensembl_TRS:
ENST00000349441,
ENST00000507564,
ENST00000296266,
ENST00000431818,
ENST00000440957,
ENST00000347300,
ENST00000504021,
ENST00000348417
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000324165,
ENSP00000323973,
ENSP00000422179,
ENSP00000324005,
ENSP00000401569,
ENSP00000410946,
ENSP00000296266,
ENSP00000425536
RefSeq:
NP_001267470.1,
XP_006713755.1,
NP_443715.1,
XP_006713752.1,
NP_443716.1,
XP_016862311.1,
XP_006713754.1,
XP_016862310.1,
XP_016862312.1,
XP_005247666.1,
XP_016862327.1,
XP_016862306.1,
XP_016862308.1,
XP_016862318.1,
NP_443711.2,
XP_016862317.1,
XP_024309407.1,
XP_016862316.1,
NP_001267475.1,
XP_016862307.1,
XP_016862313.1,
XP_011511274.1,
XP_016862315.1,
XP_006713758.1,
XP_016862314.1,
NP_060732.2,
XP_016862321.1,
XP_016862319.1,
XP_016862309.1,
XP_016862326.1,
XP_016862322.1,
XP_016862320.1,
NP_001267474.1,
XP_016862323.1,
XP_016862325.1,
XP_016862324.1
|
| Others |
UniRef100:
UniRef100_Q9HBG6,
UniRef100_B4DST2,
UniRef100_B3KUD1
UniRef90:
UniRef90_Q9HBG6,
UniRef90_B3KT43,
UniRef90_B4DST2
UniRef50:
UniRef50_Q9HBG6,
UniRef50_B3KT43,
UniRef50_Q9HBG6-6
UniGene:
Hs.655284
CCDS:
CCDS63772.1,
CCDS3059.1,
CCDS63773.1,
CCDS3062.1,
CCDS3060.1,
CCDS63770.1,
CCDS3061.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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