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

    Gene ID: 79753, updated on 2-Nov-2024

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See SNIP1 in Genome Data Viewer
    Location:
    1p34.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (37534449..37554293, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (37399180..37419043, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (38000050..38019894, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancers GRCh37_chr1:37944526-37945352 and GRCh37_chr1:37945353-37946179 Neighboring gene zinc finger CCCH-type containing 12A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 769 Neighboring gene microRNA 6732 Neighboring gene MYST/Esa1 associated factor 6 Neighboring gene microRNA 5581 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 672 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:37984063-37984562 Neighboring gene uncharacterized LOC105378649 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:37999267-38000466 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:38005292-38006491 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 673 Neighboring gene ferritin heavy chain 1 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:38021148-38022118 Neighboring gene Sharpr-MPRA regulatory region 12224 Neighboring gene ribosomal protein S27 pseudogene 9 Neighboring gene dynein axonemal light intermediate chain 1 Neighboring gene G protein nucleolar 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ12553

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA 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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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, Q96SP9, Q9H9T7
      UniProtKB/TrEMBL
      B1AK66, B4DDK7
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      37399180..37419043 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)