SNIP1 - Smad nuclear interacting protein 1 Gene
Also Known as PML1; PMRED; NEDHCS
Species: Homo sapiens
About SNIP1
This gene has 4 transcripts (splice variants), 196 orthologues, 2 paralogues and is associated with 2 phenotypes. Ubiquitous expression in bone marrow (RPKM 6.1), testis (RPKM 5.1) and 25 other tissues.
Summary
This gene encodes a protein that contains a coiled-coil motif and C-terminal forkhead-associated (FHA) domain. The encoded protein functions as a transcriptional coactivator that increases c-Myc activity and inhibits transforming growth factor beta (TGF-beta) and nuclear factor kappa-B (NF-kB) signaling. The encoded protein also regulates the stability of cyclin D1 mRNA, and may play a role in cell proliferation and Cancer progression. Mutations in this gene are a cause of psychomotor retardation, epilepsy, and craniofacial dysmorphism (PMRED). [provided by RefSeq, Mar 2012]
SNIP1 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_024700.4 | NP_078976.2 | smad nuclear-interacting protein 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
17157259 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in mRNA splicing, via spliceosome |
IDA
IDA: Inferred from direct assay
|
29360106 | GOA |
| involved in miRNA processing |
IMP
IMP: Inferred from mutant phenotype
|
18632581 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| part of U2-type precatalytic spliceosome |
IDA
IDA: Inferred from direct assay
|
29360106 | GOA |
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
29360106 | GOA |
SNIP1 Protein Structure
FHA: FHA domain (281 - 361)
- 0
- 100
- 200
- 300
- 396 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
smad nuclear-interacting protein 1 |
|
SNIP1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
SNIP1 | Q8TAD8 | MFAP1 | Homo sapiens | P55081 | 32296183 | |
|
Intra
|
SNIP1 | Q8TAD8 | MFAP1 | Homo sapiens | P55081 | 22365833 | |
|
Intra
|
SNIP1 | Q8TAD8 | SRRM2 | Homo sapiens | Q9UQ35 | 22365833 | |
|
Intra
|
SNIP1 | Q8TAD8 | SRRM2 | Homo sapiens | Q9UQ35 | 33961781 | |
|
Intra
|
SNIP1 | Q8TAD8 | SRRM2 | Homo sapiens | Q9UQ35 | 28514442 | |
|
Intra
|
SNIP1 | Q8TAD8 | KRTAP10-6 | Homo sapiens | P60371 | 32296183 | |
|
Intra
|
SNIP1 | Q8TAD8 | KRTAP10-6 | Homo sapiens | P60371 | 32296183 | |
|
Intra
|
SNIP1 | Q8TAD8 | TNIP1 | Homo sapiens | Q15025 | 25416956 | |
|
Intra
|
SNIP1 | Q8TAD8 | TNIP1 | Homo sapiens | Q15025 | 31515488 | |
|
Intra
|
SNIP1 | Q8TAD8 | TNIP1 | Homo sapiens | Q15025 | 25416956 | |
|
Intra
|
SNIP1 | Q8TAD8 | SRRM4 | Homo sapiens | A7MD48 | 32296183 | |
|
Intra
|
SNIP1 | Q8TAD8 | SRRM4 | Homo sapiens | A7MD48 | 32296183 | |
|
Intra
|
SNIP1 | Q8TAD8 | ZBTB9 | Homo sapiens | Q96C00 | 32296183 | |
|
Intra
|
SNIP1 | Q8TAD8 | ZBTB9 | Homo sapiens | Q96C00 | 32296183 | |
|
Intra
|
SNIP1 | Q8TAD8 | ZBTB9 | Homo sapiens | Q96C00 | 32296183 | |
|
Intra
|
SNIP1 | Q8TAD8 | MYC | Homo sapiens | P01106 | 17157259 | |
|
Intra
|
SNIP1 | Q8TAD8 | MYC | Homo sapiens | P01106 | 17157259 | |
|
Intra
|
SNIP1 | Q8TAD8 | MYC | Homo sapiens | P01106 | 17157259 | |
|
Intra
|
SNIP1 | Q8TAD8 | SNW1 | Homo sapiens | Q13573 | 18794151 | |
|
Intra
|
SNIP1 | Q8TAD8 | SNW1 | Homo sapiens | Q13573 | 18794151 | |
|
Intra
|
SNIP1 | Q8TAD8 | SNW1 | Homo sapiens | Q13573 | 18794151 | |
|
Intra
|
SNIP1 | Q8TAD8 | SNW1 | Homo sapiens | Q13573 | 28514442 | |
|
Intra
|
SNIP1 | Q8TAD8 | SNW1 | Homo sapiens | Q13573 | 18794151 | |
|
Intra
|
SNIP1 | Q8TAD8 | DVL3 | Homo sapiens | Q92997 | 32296183 | |
|
Intra
|
SNIP1 | Q8TAD8 | DVL3 | Homo sapiens | Q92997 | 32296183 | |
|
Intra
|
SNIP1 | Q8TAD8 | DVL3 | Homo sapiens | Q92997 | 32296183 | |
|
Intra
|
SNIP1 | Q8TAD8 | CLK3 | Homo sapiens | P49761 | 32296183 | |
|
Intra
|
SNIP1 | Q8TAD8 | CLK3 | Homo sapiens | P49761 | 32296183 | |
|
Intra
|
SNIP1 | Q8TAD8 | CLK3 | Homo sapiens | P49761 | 33961781 | |
|
Intra
|
SNIP1 | Q8TAD8 | CLK3 | Homo sapiens | P49761 | 32296183 | |
|
Intra
|
SNIP1 | Q8TAD8 | CLK2 | Homo sapiens | P49760 | 33961781 | |
|
Intra
|
SNIP1 | Q8TAD8 | CLK2 | Homo sapiens | P49760 | 25416956 | |
|
Intra
|
SNIP1 | Q8TAD8 | CLK2 | Homo sapiens | P49760 | 21516116 | |
|
Intra
|
SNIP1 | Q8TAD8 | CLK2 | Homo sapiens | P49760 | 25416956 | |
|
Intra
|
SNIP1 | Q8TAD8 | SUMO1 | Homo sapiens | P63165 | 38309408 | |
|
Intra
|
SNIP1 | Q8TAD8 | TSPYL2 | Homo sapiens | Q9H2G4 | 32296183 | |
|
Intra
|
SNIP1 | Q8TAD8 | TSPYL2 | Homo sapiens | Q9H2G4 | 32296183 | |
|
Intra
|
SNIP1 | Q8TAD8 | TSPYL2 | Homo sapiens | Q9H2G4 | 32296183 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
|
| Benign Epilepsy With Centrotemporal Spikes |
|
|
| Epilepsy |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Canis familiaris | SNIP1 | VGNC | VGNC:46602 |
| Bos taurus | SNIP1 | VGNC | VGNC:35065 |
| Rattus norvegicus | SNIP1 | RGD | RGD:1359268 |
| Mus musculus | SNIP1 | MGD | MGI:2156003 |
| Felis catus | SNIP1 | VGNC | VGNC:65529 |
| Macaca mulatta | SNIP1 | VGNC | VGNC:106499 |
| Others | SNIP1 | NCBI |