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SNURF SNRPN upstream open reading frame [ Homo sapiens (human) ]

Gene ID: 8926, updated on 5-Sep-2021

Summary

Official Symbol
SNURFprovided by HGNC
Official Full Name
SNRPN upstream open reading frameprovided by HGNC
Primary source
HGNC:HGNC:11171
See related
Ensembl:ENSG00000273173
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
Summary
This gene is located within the Prader-Willi Syndrome critical region on chromosome 15. Transcripts produced from this gene initiate at an imprinting center and are paternally-imprinted. These transcripts may be bicistronic and also encode SNRPN (small nuclear ribonucleoprotein polypeptide N) from a downstream open reading frame. The small protein represented by this gene is encoded by an evolutionarily-conserved upstream open reading frame and is localized to the nucleus. Extensive alternative splicing and promoter usage occurs in this region and the full-length nature of some of these transcripts has not been determined. Alterations in the imprinting center are associated with parental imprint switch failure, which may cause Angelman syndrome or Prader-Willi syndrome. [provided by RefSeq, Mar 2017]
Orthologs
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Genomic context

See SNURF in Genome Data Viewer
Location:
15q11.2
Exon count:
11
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (24954987..24978723)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (25200134..25223870)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA host gene 14 Neighboring gene small nuclear ribonucleoprotein polypeptide N Neighboring gene ribosomal protein S27 pseudogene 2 Neighboring gene ribosomal protein L5 pseudogene 1 Neighboring gene small nucleolar RNA, C/D box 107 Neighboring gene small nucleolar RNA, C/D box 64 Neighboring gene Prader Willi/Angelman region RNA, SNRPN neighbor Neighboring gene Prader Willi/Angelman region RNA 5

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

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2012-09-06)

ClinGen Genome Curation Page
Haploinsufficency

Little evidence for dosage pathogenicity (Last evaluated 2012-09-06)

ClinGen Genome Curation PagePubMed

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
 
Component Evidence Code Pubs
is_active_in nuclear speck IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nuclear speck IDA
Inferred from Direct Assay
more info
 
located_in nucleus NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
SNRPN upstream reading frame protein

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

  1. NG_012958.1 RefSeqGene

    Range
    136247..160077
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
  2. NG_002690.1 

    Range
    173984..197814
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001394334.1NP_001381263.1  SNRPN upstream reading frame protein

    Status: REVIEWED

    Source sequence(s)
    AC090602, AC124312
    Conserved Domains (1) summary
    pfam07192
    Location:468
    SNURF; SNURF/RPN4 protein
  2. NM_005678.5NP_005669.2  SNRPN upstream reading frame protein

    See identical proteins and their annotated locations for NP_005669.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) is the predominant splice variant and represents a bicistronic transcript that can also encode the SNRPN protein.
    Source sequence(s)
    AC124312, DA369087, DB554158, U41303
    Consensus CDS
    CCDS10016.1
    UniProtKB/Swiss-Prot
    P63162, Q9Y675
    UniProtKB/TrEMBL
    A0A024R0T6
    Related
    ENSP00000463396.1, ENST00000580062.5
    Conserved Domains (1) summary
    pfam07192
    Location:468
    SNURF; SNURF/RPN4 protein
  3. NM_022804.3NP_073715.1  SNRPN upstream reading frame protein

    See identical proteins and their annotated locations for NP_073715.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks multiple 3' exons and contains an alternate 3' UTR compared to variant 1. This variant is monocistronic and cannot encode the SNRPN protein.
    Source sequence(s)
    AW451120, DA134019
    Consensus CDS
    CCDS10016.1
    UniProtKB/Swiss-Prot
    Q9Y675
    UniProtKB/TrEMBL
    A0A024R0T6
    Related
    ENSP00000342152.4, ENST00000338327.4
    Conserved Domains (1) summary
    pfam07192
    Location:468
    SNURF; SNURF/RPN4 protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    24954987..24978723
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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