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Details of PRPF31 gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| PRPF31 | PRP31 | Q8WWY3 | PRP31_HUMAN | 26121 | ENSG00000267847 ENSG00000268831 ENSG00000268710 ENSG00000268495 ENSG00000269276 ENSG00000269606 ENSG00000268383 ENSG00000105618 ENSG00000269379 | U4/U6 small nuclear ribonucleoprotein Prp31 | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Retinitis pigmentosa 11 (RP11) [MIM:600138]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. Note=The disease is caused by mutations affecting the gene represented in this entry. | 600138 | ||||||||
Phenotypes
Abnormality of the eye, Abnormality of the fundus, Abnormality of the posterior segment of the eye, Abnormality of the retina, Abnormality of the retinal pigment epithelium, Abnormal retinal pigmentation, All, Autosomal dominant inheritance, Mode of inheritance, Phenotypic abnormality, Retinitis pigmentosa.
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Prpf31 | Prp31 | prp-31 | Sp-Prpf31 | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| PRPF31 | CD2BP2 | 1 | PRPF31 | CD2BP2 | cpx25 | yes | no | no | Known |
| PRPF31 | DDX23 | 1 | PRPF31 | DDX23 | cpx25 | yes | no | no | Known |
| PRPF3 | PRPF31 | 1 | PRPF3 | PRPF31 | cpx25 | yes | yes | yes | Known |
| PRPF6 | PRPF31 | 1 | PRPF6 | PRPF31 | cpx25 | yes | yes | yes | Known |
| PRPF31 | PRPF4 | 1 | PRPF31 | PRPF4 | cpx25 | yes | yes | yes | Known |
| PRPF31 | PRPF8 | 1 | PRPF31 | PRPF8 | cpx25 | yes | yes | yes | Known |
| PRPF31 | SART1 | 1 | PRPF31 | SART1 | cpx25 | yes | yes | yes | Known |
| PRPF31 | SNRNP200 | 1 | PRPF31 | SNRNP200 | cpx25 | yes | yes | yes | Known |
| PRPF31 | EFTUD2 | 1 | PRPF31 | EFTUD2 | cpx25 | yes | no | no | Known |
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
|---|---|---|---|---|
| XAB2 | PRPF31 | 0.108690545 | XAB2 | PRPF31 |
| SF3B1 | PRPF31 | 0.094545699 | SF3B1 | PRPF31 |
| SNRPD2 | PRPF31 | 0.070526339 | SNRPD2 | PRPF31 |
| SF3A2 | PRPF31 | 0.152515417 | SF3A2 | PRPF31 |
| SNRPD1 | PRPF31 | 0.092988157 | SNRPD1 | PRPF31 |
| SF3B3 | PRPF31 | 0.108507141 | SF3B3 | PRPF31 |
| SF3A3 | PRPF31 | 0.166135019 | SF3A3 | PRPF31 |
| SNRPA1 | PRPF31 | 0.115051323 | SNRPA1 | PRPF31 |
| FBL | PRPF31 | 0.293536215 | FBL | PRPF31 |