1. Gene
  2. SNIP1 - Smad nuclear interacting protein 1 Gene

SNIP1 - Smad nuclear interacting protein 1 Gene

Homo sapiens

Also known as PML1; PMRED; NEDHCS

Gene ID: 79753 | Gene type: protein coding

About SNIP1

Cytogenetic location: 1p34.3 Genomic coordinates (GRCh38): 1:37,534,449-37,554,293 (from NCBI)

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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
17157259 GOA
Biological Process GO Annotation Evidence Reference 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 Reference 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
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SNIP1 Protein Structure

FHA

FHA: FHA domain (281 - 361)

  • 0
  • 100
  • 200
  • 300
  • 396 a.a.
Protein Preferred Names Protein Names

smad nuclear-interacting protein 1

FHA domain-containing protein SNIP1

SNIP1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
SNIP1 Q8TAD8 MFAP1 Homo sapiens P55081 32296183
Intra
SNIP1 Q8TAD8 MFAP1 Homo sapiens P55081
Y2H
22365833
Intra
SNIP1 Q8TAD8 SRRM2 Homo sapiens Q9UQ35
Y2H
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
IF
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
Y2H
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
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures

Psychomotor Retardation, Epilepsy, And Craniofacial Dysmorphism

PMRED

NEDHCS

Benign Epilepsy With Centrotemporal Spikes

Rolandic Epilepsy

Benign Rolandic Epilepsy

Epilepsy, Rolandic

Bcects

Benign Childhood Epilepsy With Centrotemporal Spike

Sylvan Seizures

Becrs

Bects

Bre

Benign Epilepsy Of Childhood With Centrotemporal Spikes

Benign Familial Epilepsy Of Childhood With Rolandic Spikes

Centrotemporal Epilepsy

Epilepsy

Epilepsy Syndrome

Epileptic Syndrome

Epilepsies

Symptomatic Epilepsies

Post Traumatic Epilepsy

Traumatic Epilepsy

Traumatic Epileptic

Epilepsy Due To Hippocampal Sclerosis

Epilepsy With Ammon'S Horn Sclerosis

Epilepsy Due To Cortical Dysplasia

Epilepsy Due To Neuronal Migration Disorders

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

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