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This gene is located on the X chromosome and encodes a centrosomal protein. A knockout mouse model has been used to study the effect of mutations in this gene. The mouse gene is also located on the X chromosome, however, unlike the human gene it is not subject to X inactivation. Mutations in this gene are associated with oral-facial-digital syndrome type I and Simpson-Golabi-Behmel syndrome type 2. Many pseudogenes have been identified; a single pseudogene is found on chromosome 5 while as many as fifteen have been found on the Y chromosome. [provided by RefSeq, Aug 2016]
OFD1 (OFD1 Centriole And Centriolar Satellite Protein) is a Protein Coding gene. Diseases associated with OFD1 include Orofaciodigital Syndrome I and Retinitis Pigmentosa 23. Among its related pathways are Organelle biogenesis and maintenance and Regulation of PLK1 Activity at G2/M Transition. Gene Ontology (GO) annotations related to this gene include alpha-tubulin binding and gamma-tubulin binding.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 17761535 |
GO:0042802 | identical protein binding | IPI | 17761535 |
GO:0043014 | alpha-tubulin binding | ISS | -- |
GO:0043015 | gamma-tubulin binding | ISS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | IEA | -- |
GO:0005634 | nucleus | IEA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005813 | centrosome | IBA,IDA | 21399614 |
GO:0005814 | centriole | IBA,IDA | 20230748 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Regulation of PLK1 Activity at G2/M Transition |
.50
|
|
2 | Cell Cycle, Mitotic |
.83
|
|
3 | Organelle biogenesis and maintenance |
.56
|
|
4 | Signaling by Hedgehog | ||
5 | Signaling by GPCR |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000086 | G2/M transition of mitotic cell cycle | TAS | -- |
GO:0000278 | NOT mitotic cell cycle | ISS | -- |
GO:0007099 | NOT centriole replication | ISS | -- |
GO:0010389 | regulation of G2/M transition of mitotic cell cycle | TAS | -- |
GO:0030030 | cell projection organization | IEA | -- |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14a | · | 14b | ^ | 15 | ^ | 16a | · | 16b | ^ | 17a | · | 17b | ^ | 18 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - |
ExUns: | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ | 24a | · | 24b | ^ | 25 | ^ | 26a | · | 26b | ^ | 27 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||||
SP2: | |||||||||||||||||||||
SP3: | |||||||||||||||||||||
SP4: | |||||||||||||||||||||
SP5: | |||||||||||||||||||||
SP6: | |||||||||||||||||||||
SP7: | - | - | |||||||||||||||||||
SP8: | |||||||||||||||||||||
SP9: | |||||||||||||||||||||
SP10: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | OFD1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | OFD1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ofd1 30 |
|
||
Cow (Bos Taurus) |
Mammalia | OFD1 30 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Mouse (Mus musculus) |
Mammalia | Ofd1 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | OFD1 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | OFD1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | OFD1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | OFD1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ofd1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | ofd1 30 31 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
---|---|---|---|---|---|
638921 | Uncertain Significance: Joubert syndrome; Orofaciodigital syndrome I | 13,760,648(+) | T/A | MISSENSE_VARIANT | |
648352 | Uncertain Significance: Joubert syndrome; Orofaciodigital syndrome I | 13,756,633(+) | T/C | MISSENSE_VARIANT | |
661632 | Uncertain Significance: Joubert syndrome; Orofaciodigital syndrome I | 13,760,245(+) | A/G | SYNONYMOUS_VARIANT | |
679615 | Likely Benign: not provided | 13,767,336(+) | C/T | INTRON_VARIANT | |
680448 | Likely Benign: not provided | 13,735,053(+) | C/G | FIVE_PRIME_UTR_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
orofaciodigital syndrome i |
|
|
retinitis pigmentosa 23 |
|
|
joubert syndrome 10 |
|
|
simpson-golabi-behmel syndrome, type 2 |
|
|
orofaciodigital syndrome iii |
|
|