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This gene encodes a subunit of a protein complex that regulates ciliogenesis and cilia maintenance. The encoded protein has also been shown to regulate centriolar duplication. Mutations in this gene cause an orofaciodigital syndrome and a form of Joubert syndrome in human patients. [provided by RefSeq, May 2017]
KIAA0753 (KIAA0753) is a Protein Coding gene. Diseases associated with KIAA0753 include Orofaciodigital Syndrome Xv and Orofaciodigital Syndrome Vi.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 25416956 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005813 | centrosome | IDA | 21399614 |
GO:0005814 | centriole | IEA | -- |
GO:0005815 | microtubule organizing center | IEA | -- |
GO:0005829 | cytosol | IDA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007099 | centriole replication | IEA | -- |
GO:0071539 | protein localization to centrosome | IMP | 26297806 |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15a | · | 15b | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20a | · | 20b | ^ | 21a | · | 21b | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: |
ExUns: | 22 |
---|---|
SP1: | |
SP2: | |
SP3: | |
SP4: | |
SP5: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | KIAA0753 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | KIAA0753 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | 4933427D14Rik 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | RGD1304728 30 |
|
||
Dog (Canis familiaris) |
Mammalia | KIAA0753 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | KIAA0753 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | KIAA0753 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | KIAA0753 30 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | si:dkey-243i1.1 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
708594 | Benign: not provided | 6,628,529(-) | G/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT | |
713011 | Likely Benign: not provided | 6,628,599(-) | A/G | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT | |
719781 | Likely Benign: not provided | 6,628,640(-) | T/C | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT | |
725288 | Benign: not provided | 6,611,909(-) | G/A | INTRON_VARIANT | |
727131 | Benign: not provided | 6,612,021(-) | G/A | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv26106 | CNV | loss | 19812545 |
esv3303390 | CNV | mobile element insertion | 20981092 |
esv3308774 | CNV | mobile element insertion | 20981092 |
esv3345587 | CNV | insertion | 20981092 |
esv3346381 | CNV | insertion | 20981092 |
esv3372044 | CNV | insertion | 20981092 |
nsv574278 | CNV | gain | 21841781 |
nsv952116 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
orofaciodigital syndrome xv |
|
|
orofaciodigital syndrome vi |
|
|
short-rib thoracic dysplasia 1 with or without polydactyly |
|
|
joubert syndrome 1 |
|
|
orofaciodigital syndrome |
|
|