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Details of SPR gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| SPR | --- | P35270 | SPRE_HUMAN | 6697 | ENSG00000116096 | Sepiapterin reductase | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Dystonia, DOPA-responsive, due to sepiapterin reductase deficiency (DRDSPRD) [MIM:612716]: A form of DOPA-responsive dystonia. In the majority of cases, patients manifest progressive psychomotor retardation, dystonia and spasticity. Cognitive anomalies are also often present. The disease is due to severe dopamine and serotonin deficiencies in the central nervous system caused by a defect in BH4 synthesis. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Note=The disease is caused by mutations affecting the gene represented in this entry. | 612716 | ||||||||
Phenotypes
Abnormal aggressive, impulsive or violent behavior, Abnormal axial skeleton morphology, Abnormal emotion/affect behavior, Abnormality of amino acid metabolism, Abnormality of aromatic amino acid family metabolism, Abnormality of carboxylic acid metabolism, Abnormality of central motor function, Abnormality of eye movement, Abnormality of head and neck, Abnormality of higher mental function, Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of muscle physiology, Abnormality of phenylalanine metabolism, Abnormality of pyramidal motor function, Abnormality of skeletal morphology, Abnormality of skull size, Abnormality of the central nervous system, Abnormality of the cerebrum, Abnormality of the eye, Abnormality of the forebrain, Abnormality of the head, Abnormality of the musculature, Abnormality of the nervous system, Abnormality of the skeletal system, Abnormality of the skull, Abnormal muscle tone, Age of onset, Aggressive behavior, All, Aplasia/Hypoplasia involving the central nervous system, Aplasia/Hypoplasia of the cerebrum, Apraxia, Autosomal dominant inheritance, Autosomal recessive inheritance, Behavioural/Psychiatric Abnormality, Chorea, Choreoathetosis, Cognitive impairment, Dysarthria, Dystonia, Global developmental delay, Growth abnormality, Growth delay, Hyperactivity, Hypertonia, Infantile onset, Intellectual disability, Involuntary movements, Microcephaly, Mode of inheritance, Morphological abnormality of the central nervous system, Muscular hypotonia, Muscular hypotonia of the trunk, Neurological speech impairment, Oculomotor apraxia, Onset, Onset and clinical course, Phenotypic abnormality, Seizures, Sleep disturbance, Spasticity, Transient hyperphenylalaninemia, Tremor.
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Spr | Sptr | --- | Sp-Spr... | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| SPR | FUBP1 | 0.15435506 | SPR | FUBP1 | cpx74 | no | no | no | Novel |
| SPR | LGALS3 | 0.229094479 | SPR | LGALS3 | cpx74 | no | no | no | Novel |
| SPR | MIF | 0.152316273 | SPR | MIF | cpx279 | no | no | no | Novel |
| SPR | PEBP1 | 0.169297242 | SPR | PEBP1 | cpx74 | no | no | no | Novel |
| SPR | PRDX5 | 0.117407207 | SPR | PRDX5 | cpx74 | no | no | no | Novel |
| SPR | PRDX6 | 0.07535833 | SPR | PRDX6 | cpx74 | no | no | no | Novel |
| SPR | UFM1 | 0.137959357 | SPR | UFM1 | cpx279 | no | no | no | Novel |
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
|---|---|---|---|---|
| DSTN | SPR | 0.070831001 | DSTN | SPR |
| SPR | UFC1 | 0.102563156 | SPR | UFC1 |
| PSMD3 | SPR | 0.070238146 | PSMD3 | SPR |
| KYNU | SPR | 0.081122094 | KYNU | SPR |
| SPR | ALDH6A1 | 0.097140912 | SPR | ALDH6A1 |
| SOD1 | SPR | 0.102304519 | SOD1 | SPR |
| SPR | COX17 | 0.14312745 | SPR | COX17 |
| SPR | HINT1 | 0.104234904 | SPR | HINT1 |
| SPR | TAGLN2 | 0.321405919 | SPR | TAGLN2 |
| SPR | TKT | 0.098381418 | SPR | TKT |
| SPR | PIN1 | 0.233749458 | SPR | PIN1 |
| SPR | PRDX1 | 0.139849932 | SPR | PRDX1 |
| SPR | ATIC | 0.071007949 | SPR | ATIC |
| SPR | PDCD6IP | 0.093512504 | SPR | PDCD6IP |
| SPR | MDH1 | 0.086554856 | SPR | MDH1 |
| SPR | DUT | 0.077475491 | SPR | DUT |
| SPR | SERPINH1 | 0.091144547 | SPR | SERPINH1 |
| SPR | YKT6 | 0.104216631 | SPR | YKT6 |
| TCEB1 | SPR | 0.077014613 | TCEB1 | SPR |
| LYPLA2 | SPR | 0.119820636 | LYPLA2 | SPR |
| SPR | ACAT2 | 0.156706538 | SPR | ACAT2 |
| SPR | LTA4H | 0.098393295 | SPR | LTA4H |
| SPR | QDPR | 0.094359836 | SPR | QDPR |
| SPR | PCMT1 | 0.148806213 | SPR | PCMT1 |
| SPR | HSPE1 | 0.09404569 | SPR | HSPE1 |
| LDHA | SPR | 0.074076001 | LDHA | SPR |
| SPR | PRDX2 | 0.134664519 | SPR | PRDX2 |