SNIP1 Smad nuclear interacting protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SNIP1provided by HGNC
Official Full Name: Smad nuclear interacting protein 1provided by HGNC
Primary source: HGNC:HGNC:30587
See related: Ensembl:ENSG00000163877 MIM:608241; AllianceGenome:HGNC:30587
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PML1; PMRED; NEDHCS
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]
Expression: Ubiquitous expression in bone marrow (RPKM 6.1), testis (RPKM 5.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p34.3

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (37534449..37554293, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (37399180..37419043, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (38000050..38019894, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SNIP1 reduces extracellular matrix degradation and inflammation via inhibiting the NF-kappaB signaling pathway in osteoarthritis.
Title: SNIP1 reduces extracellular matrix degradation and inflammation via inhibiting the NF-κB signaling pathway in osteoarthritis.
MKRN1 promotes colorectal cancer metastasis by activating the TGF-beta signalling pathway through SNIP1 protein degradation.
Title: MKRN1 promotes colorectal cancer metastasis by activating the TGF-β signalling pathway through SNIP1 protein degradation.
MiR-138-5p suppresses the progression of lung cancer by targeting SNIP1.
Title: MiR-138-5p suppresses the progression of lung cancer by targeting SNIP1.
KMT5A-methylated SNIP1 promotes triple-negative breast cancer metastasis by activating YAP signaling.
Title: KMT5A-methylated SNIP1 promotes triple-negative breast cancer metastasis by activating YAP signaling.
MiR-223 promotes pyroptosis of enteritis cells through activating NF-kappaB signalling pathway by targeting SNIP1 in inflammatory bowel disease.
Title: MiR-223 promotes pyroptosis of enteritis cells through activating NF-κB signalling pathway by targeting SNIP1 in inflammatory bowel disease.
Long non-coding RNA AFAP1-AS1 accelerates lung cancer cells migration and invasion by interacting with SNIP1 to upregulate c-Myc.
Title: Long non-coding RNA AFAP1-AS1 accelerates lung cancer cells migration and invasion by interacting with SNIP1 to upregulate c-Myc.
A biallelic SNIP1 Amish founder variant causes a recognizable neurodevelopmental disorder.
Title: A biallelic SNIP1 Amish founder variant causes a recognizable neurodevelopmental disorder.
This study also reveals a TET2-SNIP1-c-MYC pathway in mediating DNA damage response.
Title: SNIP1 Recruits TET2 to Regulate c-MYC Target Genes and Cellular DNA Damage Response.
Overexpression of miR-335 inhibits the migration and invasion of osteosarcoma by targeting SNIP1
Title: Overexpression of miR-335 inhibits the migration and invasion of osteosarcoma by targeting SNIP1.
these data demonstrated a novel mechanism whereby SNIP1 regulates intestinal inflammation through modulating intestinal epithelial barrier function
Title: Smad nuclear interacting protein 1 (SNIP1) inhibits intestinal inflammation through regulation of epithelial barrier function.

Submit: New GeneRIF Correction See all GeneRIFs (20)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Psychomotor retardation, epilepsy, and craniofacial dysmorphism MedGen: C3281055 OMIM: 614501 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D8S2279 (e-PCR)
- UniSTS:473907

D15S1477 (e-PCR)
- UniSTS:474482

D1S1423 (e-PCR)
- UniSTS:149619

SHGC-74619 (e-PCR)
- UniSTS:44919

AL033821 (e-PCR)
- UniSTS:93686

AL009981 (e-PCR)
- UniSTS:51447

SHGC-74624 (e-PCR)
- UniSTS:49919

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables mRNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription regulator inhibitor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in U2-type prespliceosome assembly	NAS Non-traceable Author Statement more info	PubMed
involved_in mRNA splicing, via spliceosome	IDA Inferred from Direct Assay more info	PubMed
involved_in mRNA splicing, via spliceosome	NAS Non-traceable Author Statement more info	PubMed
involved_in miRNA processing	IBA Inferred from Biological aspect of Ancestor more info
involved_in miRNA processing	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of canonical NF-kappaB signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of U2 snRNP	NAS Non-traceable Author Statement more info	PubMed
part_of U2-type precatalytic spliceosome	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	NAS Non-traceable Author Statement more info	PubMed
part_of spliceosomal complex	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: smad nuclear-interacting protein 1

Names: FHA domain-containing protein SNIP1; PML1 homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_032170.2 RefSeqGene

Range

5052..24896

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_024700.4 → NP_078976.2 smad nuclear-interacting protein 1

See identical proteins and their annotated locations for NP_078976.2

Status: REVIEWED

Source sequence(s)

AL034379, BC027040, BP364813

Consensus CDS

CCDS419.1

UniProtKB/Swiss-Prot

Q8TAD8, Q96SP9, Q9H9T7

UniProtKB/TrEMBL

B1AK66, B4DDK7

Related

ENSP00000296215.5, ENST00000296215.8

Conserved Domains (2) summary

PRK12678
Location:24 → 208

PRK12678; transcription termination factor Rho; Provisional

cd00060
Location:258 → 361

FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...