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

Gene ID: 79753, updated on 5-Jul-2020

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
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
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

Genomic context

See SNIP1 in Genome Data Viewer
Location:
1p34.3
Exon count:
4
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (37534449..37554293, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (38000050..38019945, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene zinc finger CCCH-type containing 12A Neighboring gene microRNA 6732 Neighboring gene MYST/Esa1 associated factor 6 Neighboring gene microRNA 5581 Neighboring gene uncharacterized LOC105378649 Neighboring gene ferritin heavy chain 1 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 12224 Neighboring gene ribosomal protein S27 pseudogene 9 Neighboring gene dynein axonemal light intermediate chain 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

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

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ12553

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
mRNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
I-kappaB kinase/NF-kappaB signaling IEA
Inferred from Electronic Annotation
more info
 
mRNA splicing, via spliceosome IDA
Inferred from Direct Assay
more info
PubMed 
production of miRNAs involved in gene silencing by miRNA IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
production of miRNAs involved in gene silencing by miRNA IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
U2-type precatalytic spliceosome IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
smad nuclear-interacting protein 1
Names
FHA domain-containing protein SNIP1
PML1 homolog

NCBI Reference Sequences (RefSeq)

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

  1. NG_032170.2 RefSeqGene

    Range
    5052..24896
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_024700.4NP_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
    UniProtKB/TrEMBL
    B1AK66
    Related
    ENSP00000296215.5, ENST00000296215.8
    Conserved Domains (2) summary
    PRK12678
    Location:24208
    PRK12678; transcription termination factor Rho; Provisional
    cd00060
    Location:258361
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    37534449..37554293 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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