SPEG - striated muscle enriched protein kinase Gene
Also Known as BPEG; CNM5; APEG1; MYLK6; APEG-1; SPEGbeta; SPEGalpha
Species: Homo sapiens
About SPEG
This gene has 22 transcripts (splice variants), 127 orthologues, 9 paralogues and is associated with 3 phenotypes. Broad expression in endometrium (RPKM 4.8), prostate (RPKM 4.5) and 17 other tissues.
Summary
This gene encodes a protein with similarity to members of the Myosin light chain kinase family. This protein family is required for myocyte cytoskeletal development. Along with the desmin gene, expression of this gene may be controlled by the desmin locus control region. Mutations in this gene are associated with centronuclear myopathy 5. [provided by RefSeq, Jun 2016]
SPEG Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001173476.2 | NP_001166947.1 | striated muscle preferentially expressed protein kinase isoform 4 |
| NM_005876.5 | NP_005867.3 | striated muscle preferentially expressed protein kinase isoform 1 |
SPEG Protein Structure
I-set: Immunoglobulin I-set domain (43 - 125)
I-set: Immunoglobulin I-set domain (722 - 811)
I-set: Immunoglobulin I-set domain (869 - 959)
I-set: Immunoglobulin I-set domain (972 - 1058)
I-set: Immunoglobulin I-set domain (1064 - 1153)
I-set: Immunoglobulin I-set domain (1188 - 1277)
I-set: Immunoglobulin I-set domain (1391 - 1480)
I-set: Immunoglobulin I-set domain (1485 - 1574)
Pkinase: Protein kinase domain (1601 - 1854)
I-set: Immunoglobulin I-set domain (2584 - 2674)
Pkinase: Protein kinase domain (2966 - 3218)
- 0
- 600
- 1200
- 1800
- 2400
- 3000
- 3267 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
striated muscle preferentially expressed protein kinase |
|
SPEG Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | Verweise |
|---|---|---|---|---|---|---|---|
|
Intra
|
SPEG | Q15772 | PRMT1 | Homo sapiens | Q99873 | 25416956 | |
|
Intra
|
SPEG | Q15772 | PRMT1 | Homo sapiens | Q99873 | 25416956 |
Recombinant SPEG Proteins
| Art. -Nr. | Produktname | Accession | Reinheit |
|---|---|---|---|
| HY-P76729 | APEG1 Protein, Human (His) | Q15772-4 (M1-E113) | ≥ 95%, as determined by reducing SDS-PAGE. |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Myopathy, Centronuclear, 5 |
|
|
| Myopathy, Centronuclear, 2 |
|
|
| Centronuclear Myopathy |
|
|
| Scarlet Fever |
|
|
| Myopathy |
|
|
| Necrotizing Fasciitis |
|
|
| Dilated Cardiomyopathy |
|
|
| Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
|
| Robinow Syndrome, Autosomal Dominant 2 |
|
|
| Pharyngitis |
|
|
| Ptosis |
|
|
| Commensal Bacterial Infectious Disease |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Macaca mulatta | SPEG | VGNC | VGNC:99406 |
| Bos taurus | SPEG | VGNC | VGNC:52830 |
| Canis familiaris | SPEG | VGNC | VGNC:49703 |
| Rattus norvegicus | SPEG | RGD | RGD:2124 |
| Mus musculus | SPEG | MGD | MGI:109282 |
| Felis catus | SPEG | VGNC | VGNC:80366 |
| Others | SPEG | NCBI |