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Aliases for SNRNP48 Gene

Aliases for SNRNP48 Gene

  • Small Nuclear Ribonucleoprotein 48kDa (U11/U12) 2 3
  • U11/U12 SnRNP 48 KDa Protein 3 4
  • U11/U12 SnRNP 48K 2 3
  • U11/U12-48K 3 4
  • C6orf151 3 4
  • U11/U12 Small Nuclear Ribonucleoprotein 48 KDa Protein 3
  • Chromosome 6 Open Reading Frame 151 2
  • DJ336K20B.1 3
  • DJ512B11.2 3

External Ids for SNRNP48 Gene

Previous HGNC Symbols for SNRNP48 Gene

  • C6orf151

Previous GeneCards Identifiers for SNRNP48 Gene

  • GC06P007536
  • GC06P007467

Summaries for SNRNP48 Gene

GeneCards Summary for SNRNP48 Gene

SNRNP48 (Small Nuclear Ribonucleoprotein 48kDa (U11/U12)) is a Protein Coding gene.

UniProtKB/Swiss-Prot for SNRNP48 Gene

  • Likely involved in U12-type 5 splice site recognition.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SNRNP48 Gene

Genomics for SNRNP48 Gene

Regulatory Elements for SNRNP48 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for SNRNP48 Gene

Start:
7,590,199 bp from pter
End:
7,611,967 bp from pter
Size:
21,769 bases
Orientation:
Plus strand

Genomic View for SNRNP48 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SNRNP48 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SNRNP48 Gene

Proteins for SNRNP48 Gene

  • Protein details for SNRNP48 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6IEG0-SNR48_HUMAN
    Recommended name:
    U11/U12 small nuclear ribonucleoprotein 48 kDa protein
    Protein Accession:
    Q6IEG0
    Secondary Accessions:
    • A8K8P4
    • Q14C91
    • Q5T339
    • Q5THM1
    • Q5THM2
    • Q96MK1

    Protein attributes for SNRNP48 Gene

    Size:
    339 amino acids
    Molecular mass:
    39965 Da
    Quaternary structure:
    • Component of the U11/U12 snRNPs that are part of the U12-type spliceosome. Not found in the major spliceosome.

    Three dimensional structures from OCA and Proteopedia for SNRNP48 Gene

    Alternative splice isoforms for SNRNP48 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SNRNP48 Gene

Proteomics data for SNRNP48 Gene at MOPED

Post-translational modifications for SNRNP48 Gene

  • Ubiquitination at Lys128
  • Modification sites at PhosphoSitePlus

Other Protein References for SNRNP48 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for SNRNP48 Gene

Domains for SNRNP48 Gene

Protein Domains for SNRNP48 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SNRNP48 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6IEG0

UniProtKB/Swiss-Prot:

SNR48_HUMAN :
  • Q6IEG0
Domain:
  • The CHHC region interacts with the 5 splice site of the U12-type intron.
Similarity:
  • Contains 1 CHHC-type zinc finger.
genes like me logo Genes that share domains with SNRNP48: view

No data available for Gene Families for SNRNP48 Gene

Function for SNRNP48 Gene

Molecular function for SNRNP48 Gene

UniProtKB/Swiss-Prot Function:
Likely involved in U12-type 5 splice site recognition.

Gene Ontology (GO) - Molecular Function for SNRNP48 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with SNRNP48: view

Animal Model Products

CRISPR Products

miRNA for SNRNP48 Gene

miRTarBase miRNAs that target SNRNP48

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SNRNP48

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for SNRNP48 Gene

Localization for SNRNP48 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SNRNP48 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SNRNP48 Gene COMPARTMENTS Subcellular localization image for SNRNP48 gene
Compartment Confidence
nucleus 5
cytosol 3
extracellular 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for SNRNP48 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005689 U12-type spliceosomal complex IDA 15146077
GO:0005737 cytoplasm IDA --
genes like me logo Genes that share ontologies with SNRNP48: view

Pathways for SNRNP48 Gene

SuperPathways for SNRNP48 Gene

No Data Available

Interacting Proteins for SNRNP48 Gene

STRING Interaction Network Preview (showing 3 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000339834%0d%0a9606.ENSP00000385269%0d%0a9606.ENSP00000334499%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: ENSP00000339834 for SNRNP48 Gene via STRING

Gene Ontology (GO) - Biological Process for SNRNP48 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006397 mRNA processing IEA --
GO:0008380 RNA splicing IC 15146077
genes like me logo Genes that share ontologies with SNRNP48: view

No data available for Pathways by source for SNRNP48 Gene

Transcripts for SNRNP48 Gene

mRNA/cDNA for SNRNP48 Gene

Unigene Clusters for SNRNP48 Gene

Small nuclear ribonucleoprotein 48kDa (U11/U12):
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SNRNP48

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SNRNP48 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11
SP1: - - -
SP2: - -
SP3:
SP4:
SP5: -

Relevant External Links for SNRNP48 Gene

GeneLoc Exon Structure for
SNRNP48
ECgene alternative splicing isoforms for
SNRNP48

Expression for SNRNP48 Gene

mRNA expression in normal human tissues for SNRNP48 Gene

Protein differential expression in normal tissues for SNRNP48 Gene

This gene is overexpressed in Placenta (69.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SNRNP48 Gene

SOURCE GeneReport for Unigene cluster for SNRNP48 Gene Hs.13366

genes like me logo Genes that share expressions with SNRNP48: view

Expression partners for SNRNP48 Gene

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for SNRNP48 Gene

Orthologs for SNRNP48 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SNRNP48 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SNRNP48 35
  • 84.76 (n)
  • 86.43 (a)
SNRNP48 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SNRNP48 35
  • 91.1 (n)
  • 91.69 (a)
SNRNP48 36
  • 76 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Snrnp48 35
  • 86.55 (n)
  • 86.35 (a)
Snrnp48 16
Snrnp48 36
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SNRNP48 35
  • 99.31 (n)
  • 99.41 (a)
SNRNP48 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Snrnp48 35
  • 85.86 (n)
  • 87.54 (a)
oppossum
(Monodelphis domestica)
Mammalia SNRNP48 36
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 58 (a)
OneToMany
-- 36
  • 63 (a)
OneToMany
chicken
(Gallus gallus)
Aves SNRNP48 35
  • 69.68 (n)
  • 69.68 (a)
SNRNP48 36
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SNRNP48 36
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia snrnp48 35
  • 62.55 (n)
  • 54.75 (a)
Str.20008 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.15002 35
zebrafish
(Danio rerio)
Actinopterygii snrnp48 35
  • 54.93 (n)
  • 49.44 (a)
wufd10a06 35
snrnp48 36
  • 43 (a)
OneToOne
Species with no ortholog for SNRNP48:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SNRNP48 Gene

ENSEMBL:
Gene Tree for SNRNP48 (if available)
TreeFam:
Gene Tree for SNRNP48 (if available)

Paralogs for SNRNP48 Gene

No data available for Paralogs for SNRNP48 Gene

Variants for SNRNP48 Gene

Sequence variations from dbSNP and Humsavar for SNRNP48 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs4212 -- 7,611,764(-) AAAAA(-/GAAACA)GAAAA cds-indel
rs1044761 -- 7,611,805(+) TCTGG(C/T)GCAAA utr-variant-3-prime
rs1044764 -- 7,610,584(+) GAAGA(A/G)TAAAA utr-variant-3-prime
rs1044767 -- 7,610,836(+) TGGTT(G/T)GAGCC utr-variant-3-prime
rs1535432 -- 7,608,387(+) ccctg(A/T)ctcta intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SNRNP48 Gene

Variant ID Type Subtype PubMed ID
nsv883433 CNV Gain 21882294
nsv830580 CNV Gain 17160897
nsv5189 CNV Insertion 18451855
nsv462624 CNV Loss 19166990
dgv370n21 CNV Loss 19592680
nsv819694 CNV Gain 19587683
nsv5190 CNV Loss 18451855
nsv5191 CNV Insertion 18451855

Relevant External Links for SNRNP48 Gene

HapMap Linkage Disequilibrium report
SNRNP48

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SNRNP48 Gene

Disorders for SNRNP48 Gene

No disorders were found for SNRNP48 Gene.

No data available for MalaCards , OMIM , UniProtKB/Swiss-Prot , University of Copenhagen DISEASES , Novoseek inferred disease relationships , Genatlas and External Links for SNRNP48 Gene

Publications for SNRNP48 Gene

  1. The human 18S U11/U12 snRNP contains a set of novel proteins not found in the U2-dependent spliceosome. (PMID: 15146077) Will C.L. … Luehrmann R. (RNA 2004) 2 3 4
  2. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall A.J. … Beck S. (Nature 2003) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. Solution structure of the U11-48K CHHC zinc-finger domain that specifically binds the 5' splice site of U12-type introns. (PMID: 19217400) Tidow H. … Fersht A.R. (Structure 2009) 3 4
  5. Ubiquitin-mediated proteolysis of HuR by heat shock. (PMID: 19322201) Abdelmohsen K. … Gorospe M. (EMBO J. 2009) 3

Products for SNRNP48 Gene

Sources for SNRNP48 Gene

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