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

SNIP1 Protein Structure

FHA

0
100
200
300
396 a.a.

Protein Preferred Names

Protein Names

smad nuclear-interacting protein 1

FHA domain-containing protein SNIP1

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13491	SNIP1 Human Pre-designed siRNA Set A		/	Unkown

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

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