Free for academic non-profit institutions. Other users need a Commercial license
POC1 proteins contain an N-terminal WD40 domain and a C-terminal coiled coil domain and are part of centrosomes. They play an important role in basal body and cilia formation. This gene encodes one of the two POC1 proteins found in humans. Mutation in this gene result in autosomal-recessive cone-rod dystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
POC1B (POC1 Centriolar Protein B) is a Protein Coding gene. Diseases associated with POC1B include Cone-Rod Dystrophy 20 and Cone-Rod Dystrophy 2. An important paralog of this gene is POC1A.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 23015594 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000922 | spindle pole | IEA,IDA | 23015594 |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005813 | centrosome | IDA | 21399614 |
GO:0005814 | centriole | IEA,IDA | 20008567 |
GO:0005815 | microtubule organizing center | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001895 | retina homeostasis | IMP | 25044745 |
GO:0007099 | centriole replication | IDA | 32060285 |
GO:0008283 | cell proliferation | IMP | 23015594 |
GO:0030030 | cell projection organization | IEA | -- |
GO:0060271 | cilium assembly | IMP | 20008567 |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | POC1B 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | POC1B 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | WDR51B 31 |
|
OneToOne | |
POC1B 30 |
|
||||
Rat (Rattus norvegicus) |
Mammalia | Poc1b 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Poc1b 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | POC1B 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | POC1B 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | WDR51B 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | POC1B 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | poc1b 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | poc1b 30 31 |
|
OneToOne | |
-- 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | Poc1 31 |
|
OneToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | RSA4 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
813200 | Pathogenic: Cone-rod dystrophy; not provided | 89,472,166(-) |
A/C NM_172240.3(POC1B):c.560+2T>G |
SPLICE_DONOR | |
833786 | Likely Benign: not provided | 89,471,617(-) |
G/C NM_172240.3(POC1B):c.673C>G (p.Gln225Glu) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
837708 | Uncertain Significance: not provided | 89,497,316(-) |
T/C NM_172240.3(POC1B):c.127A>G (p.Met43Val) |
INITIATIOR_CODON_VARIANT,MISSENSE | |
839884 | Uncertain Significance: not provided | 89,471,707(-) |
T/C NM_172240.3(POC1B):c.583A>G (p.Asn195Asp) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
845855 | Uncertain Significance: not provided | 89,470,378(-) |
T/C NM_172240.3(POC1B):c.793A>G (p.Thr265Ala) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2576321 | CNV | insertion | 19546169 |
esv3580371 | CNV | loss | 25503493 |
esv3630318 | CNV | loss | 21293372 |
esv3630319 | CNV | loss | 21293372 |
nsv1047444 | CNV | loss | 25217958 |
nsv478578 | CNV | novel sequence insertion | 20440878 |
nsv832479 | CNV | gain | 17160897 |
nsv975519 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
cone-rod dystrophy 20 |
|
|
cone-rod dystrophy 2 |
|
|
peripheral cone dystrophy |
|
|
retinal ciliopathy |
|
|
cone-rod dystrophy 16 |
|
|