SNRPN - small nuclear ribonucleoprotein polypeptide N Gene
Also Known as SMN; PWCR; SM-D; sm-N; RT-LI; HCERN3; SNRNP-N; SNURF-SNRPN
Species: Homo sapiens
About SNRPN
This gene has 12 transcripts (splice variants), 104 orthologues, 1 paralogue and is associated with 10 phenotypes.
Summary
This gene is located within the Prader-Willi Syndrome critical region on chromosome 15 and is imprinted and expressed from the paternal allele. It encodes a component of the small nuclear ribonucleoprotein complex, which functions in pre-mRNA processing and may contribute to tissue-specific alternative splicing. Alternative promoter use and alternative splicing result in a multitude of transcript variants encoding the same protein. Transcript variants that initiate at the CpG island-associated imprinting center may be bicistronic and also encode the SNRPN upstream reading frame protein (SNURF) from an upstream open reading frame. In addition, long spliced transcripts for small nucleolar RNA host gene 14 (SNHG14) may originate from the promoters at this locus and share exons with this gene. Alterations in this region are associated with parental imprint switch failure, which may cause Angelman syndrome or Prader-Willi syndrome. [provided by RefSeq, Mar 2017]
SNRPN Products (112)
| mRNA | Protein | Name |
|---|---|---|
| NM_001349454.2 | NP_001336383.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001349455.2 | NP_001336384.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001349456.2 | NP_001336385.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001349457.2 | NP_001336386.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001349458.2 | NP_001336387.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001349459.2 | NP_001336388.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001349460.2 | NP_001336389.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001349461.2 | NP_001336390.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001349462.2 | NP_001336391.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001349463.2 | NP_001336392.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001349464.2 | NP_001336393.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001349465.2 | NP_001336394.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001378249.1 | NP_001365178.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001378251.1 | NP_001365180.1 | small nuclear ribonucleoprotein-associated protein N isoform a |
| NM_001378252.1 | NP_001365181.1 | small nuclear ribonucleoprotein-associated protein N isoform a |
| NM_001378253.1 | NP_001365182.1 | small nuclear ribonucleoprotein-associated protein N isoform a |
| NM_001378254.1 | NP_001365183.1 | small nuclear ribonucleoprotein-associated protein N isoform a |
| NM_001378255.1 | NP_001365184.1 | small nuclear ribonucleoprotein-associated protein N isoform a |
| NM_001378256.1 | NP_001365185.1 | small nuclear ribonucleoprotein-associated protein N isoform c |
| NM_001378257.1 | NP_001365186.1 | small nuclear ribonucleoprotein-associated protein N isoform c |
| NM_001400634.1 | NP_001387563.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400635.1 | NP_001387564.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400636.1 | NP_001387565.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400637.1 | NP_001387566.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400638.1 | NP_001387567.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400639.1 | NP_001387568.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400640.1 | NP_001387569.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400641.1 | NP_001387570.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400643.1 | NP_001387572.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400644.1 | NP_001387573.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400646.1 | NP_001387575.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400647.1 | NP_001387576.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400649.1 | NP_001387578.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400650.1 | NP_001387579.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400652.1 | NP_001387581.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400683.1 | NP_001387612.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400684.1 | NP_001387613.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400685.1 | NP_001387614.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400686.1 | NP_001387615.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400687.1 | NP_001387616.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400688.1 | NP_001387617.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400689.1 | NP_001387618.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400690.1 | NP_001387619.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400691.1 | NP_001387620.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400692.1 | NP_001387621.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400693.1 | NP_001387622.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400694.1 | NP_001387623.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400695.1 | NP_001387624.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400696.1 | NP_001387625.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400697.1 | NP_001387626.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400698.1 | NP_001387627.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400701.1 | NP_001387630.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400702.1 | NP_001387631.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400703.1 | NP_001387632.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400704.1 | NP_001387633.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400706.1 | NP_001387635.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400708.1 | NP_001387637.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400710.1 | NP_001387639.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400712.1 | NP_001387641.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400713.1 | NP_001387642.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400715.1 | NP_001387644.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400716.1 | NP_001387645.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400717.1 | NP_001387646.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400718.1 | NP_001387647.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400719.1 | NP_001387648.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400720.1 | NP_001387649.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400721.1 | NP_001387650.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400722.1 | NP_001387651.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400723.1 | NP_001387652.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400724.1 | NP_001387653.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400725.1 | NP_001387654.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400726.1 | NP_001387655.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400727.1 | NP_001387656.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400728.1 | NP_001387657.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400729.1 | NP_001387658.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400730.1 | NP_001387659.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400731.1 | NP_001387660.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400732.1 | NP_001387661.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400733.1 | NP_001387662.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400734.1 | NP_001387663.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400735.1 | NP_001387664.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400736.1 | NP_001387665.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400737.1 | NP_001387666.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400738.1 | NP_001387667.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400739.1 | NP_001387668.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400740.1 | NP_001387669.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400741.1 | NP_001387670.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400742.1 | NP_001387671.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400743.1 | NP_001387672.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400744.1 | NP_001387673.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400745.1 | NP_001387674.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400746.1 | NP_001387675.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400747.1 | NP_001387676.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400748.1 | NP_001387677.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400753.1 | NP_001387682.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400754.1 | NP_001387683.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400755.1 | NP_001387684.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400756.1 | NP_001387685.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400757.1 | NP_001387686.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400758.1 | NP_001387687.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400759.1 | NP_001387688.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400762.1 | NP_001387691.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400763.1 | NP_001387692.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_001400764.1 | NP_001387693.1 | small nuclear ribonucleoprotein-associated protein N isoform d |
| NM_001400765.1 | NP_001387694.1 | small nuclear ribonucleoprotein-associated protein N isoform d |
| NM_001400767.1 | NP_001387696.1 | small nuclear ribonucleoprotein-associated protein N isoform c |
| NM_001400768.1 | NP_001387697.1 | small nuclear ribonucleoprotein-associated protein N isoform e |
| NM_003097.6 | NP_003088.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_022805.5 | NP_073716.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_022806.5 | NP_073717.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_022807.5 | NP_073718.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| NM_022808.5 | NP_073719.1 | small nuclear ribonucleoprotein-associated protein N isoform b |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
15105431 | GOA |
SNRPN Protein Structure
LSM: LSM domain (9 - 81)
- 0
- 100
- 200
- 240 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
small nuclear ribonucleoprotein-associated protein N |
|
SNRPN Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
SNRPN | P63162 | CFTR | Homo sapiens | P13569 | 35156780 | |
|
Intra
|
SNRPN | P63162 | CD2BP2 | Homo sapiens | O95400 | 33961781 | |
|
Intra
|
SNRPN | P63162 | CD2BP2 | Homo sapiens | O95400 | 28514442 | |
|
Intra
|
SNRPN | P63162 | CD2BP2 | Homo sapiens | O95400 | 15105431 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Angelman Syndrome |
|
|
| Autism |
|
|
| Prader-Willi Syndrome |
|
|
| Angelman Syndrome Due To Imprinting Defect In 15q11-Q13 |
|
|
| Prader-Willi Syndrome Due To Paternal Deletion Of 15q11q13 Type 1 |
|
|
| Prader-Willi Syndrome Due To Paternal Deletion Of 15q11q13 Type 2 |
|
|
| Mixed Connective Tissue Disease |
|
|
| Lupus Erythematosus |
|
|
| Schaaf-Yang Syndrome |
|
|
| Systemic Lupus Erythematosus |
|
|
| Precocious Puberty, Central, 2 |
|
|
| Chromosomal Disease |
|
|
| Transient Neonatal Diabetes Mellitus |
|
|
| Temple Syndrome |
|
|
| Silver-Russell Syndrome 1 |
|
|
| Connective Tissue Disease |
|
|
| Kagami-Ogata Syndrome |
|
|
| Spinal Muscular Atrophy |
|
|
| Leptin Deficiency Or Dysfunction |
|
|
| Pseudohypoparathyroidism, Type Ia |
|
|
| Beckwith-Wiedemann Syndrome |
|
|
| Pseudohypoparathyroidism, Type Ib |
|
|
| Spastic Paraplegia 17, Autosomal Dominant |
|
|
| Esotropia |
|
|
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome |
|
|
| Cryptorchidism, Unilateral Or Bilateral |
|
|
| Strabismus |
|
|
| Congenital Nervous System Abnormality |
|
|
| Retinitis Pigmentosa |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | SNRPN | MGD | MGI:98347 |
| Rattus norvegicus | SNRPN | RGD | RGD:621306 |
| Bos taurus | SNRPN | VGNC | VGNC:35082 |
| Macaca mulatta | SNRPN | VGNC | VGNC:78437 |
| Canis familiaris | SNRPN | VGNC | VGNC:46612 |
| Others | SNRPN | NCBI |