| Type | Description |
|---|---|
| Definition | KIAA0556 |
| Date | Results | Publications |
|---|---|---|
| 2021-02-27 13:52:00 | Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review. | 32164589 |
| 2020-01-11 12:18:00 | homozygous truncating mutations in both ADGRG1/GPR56 and KIAA0556 are found in brothers displaying an overlap of polymicrogyria, hydrocephalus, and Joubert syndrome | 30982090 |
| 2020-01-11 12:14:00 | Pathogenic germline variants of KIAA0556 associated with hypothalamic hamartoma were found. | 31197031 |
| 2017-06-24 11:59:00 | Whole exome sequencing in a multiplex consanguineous family from India revealed a KIAA0556 homozygous single base pair deletion mutation (c.4420del; p.Met1474Cysfs*11). Knockdown of the gene in zebrafish resulted in a ciliopathy phenotype, rescued by co-injection of wildtype cDNA | 27245168 |
| 2016-07-02 10:16:00 | KIAA0556 mutation identified in patients with Joubert syndrome. KIAA0556 binds to microtubules, p60/p80 katanins and genetically interacts with ARL13B. | 26714646 |
| Type | IDs |
|---|---|
| Synonymous | JBTS26 |
| Gene |
UniProtKB-ID:
KATIP_HUMAN
UniprotKB:
O60303
UniParc:
UPI000045693C
EMBL:
AC002551,
AB011128,
AC008732,
AC092330,
AC016597,
AC025275,
BC150276
Ensembl:
ENSG00000047578
KO:
hsa:23247
|
| Nucleutide sequences |
EMBL-CDS:
AAI50277.1,
BAA25482.2
Ensembl_TRS:
ENST00000261588
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000261588
RefSeq:
XP_011544079.1,
XP_016878576.1,
NP_056017.4,
XP_011544075.1,
XP_006721088.1,
XP_024305984.1,
XP_016878577.1,
XP_016878574.1,
XP_005255259.1,
XP_016878575.1,
XP_005255265.1,
XP_011544078.1,
XP_024305985.1,
XP_005255263.1,
XP_005255258.1,
XP_011544077.1,
XP_011544076.1,
XP_005255260.1
|
| Others |
UniRef100:
UniRef100_O60303
UniRef90:
UniRef90_O60303
UniRef50:
UniRef50_O60303
UniGene:
Hs.460459
CCDS:
CCDS32415.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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