Free for academic non-profit institutions. Other users need a Commercial license

Aliases for SNRNP40 Gene

Aliases for SNRNP40 Gene

  • Small Nuclear Ribonucleoprotein 40kDa (U5) 2 3
  • WD Repeat Domain 57 (U5 SnRNP Specific) 2 3
  • WD Repeat-Containing Protein 57 3 4
  • U5 SnRNP 40 KDa Protein 3 4
  • 38 KDa-Splicing Factor 3 4
  • Prp8-Binding Protein 3 4
  • HPRP8BP 3 4
  • PRPF8BP 3 6
  • PRP8BP 3 4
  • U5-40K 3 4
  • WDR57 3 4
  • SPF38 3 6
  • U5 Small Nuclear Ribonucleoprotein 40 KDa Protein 3
  • U5 SnRNP-Specific 40 KDa Protein (HPrp8-Binding) 3
  • U5 SnRNP-Specific 40 KDa Protein 4
  • U5-40kD Protein 3
  • SFP38 4
  • 40K 3

External Ids for SNRNP40 Gene

Previous HGNC Symbols for SNRNP40 Gene

  • WDR57

Previous GeneCards Identifiers for SNRNP40 Gene

  • GC01M031506
  • GC01M031732
  • GC01M029838

Summaries for SNRNP40 Gene

Entrez Gene Summary for SNRNP40 Gene

  • This gene encodes a component of the U5 small nuclear ribonucleoprotein (snRNP) particle. The U5 snRNP is part of the spliceosome, a multiprotein complex that catalyzes the removal of introns from pre-messenger RNAs. [provided by RefSeq, Jul 2008]

GeneCards Summary for SNRNP40 Gene

SNRNP40 (Small Nuclear Ribonucleoprotein 40kDa (U5)) is a Protein Coding gene. Diseases associated with SNRNP40 include intermediate charcot-marie-tooth neuropathy. Among its related pathways are Gene Expression and Spliceosome. An important paralog of this gene is ATG16L1.

UniProtKB/Swiss-Prot for SNRNP40 Gene

  • Component of the U5 small nuclear ribonucleoprotein (snRNP) complex. The U5 snRNP is part of the spliceosome, a multiprotein complex that catalyzes the removal of introns from pre-messenger RNAs.

Gene Wiki entry for SNRNP40 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SNRNP40 Gene

Genomics for SNRNP40 Gene

Regulatory Elements for SNRNP40 Gene

Genomic Location for SNRNP40 Gene

Start:
31,259,568 bp from pter
End:
31,296,797 bp from pter
Size:
37,230 bases
Orientation:
Minus strand

Genomic View for SNRNP40 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SNRNP40 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SNRNP40 Gene

Proteins for SNRNP40 Gene

  • Protein details for SNRNP40 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96DI7-SNR40_HUMAN
    Recommended name:
    U5 small nuclear ribonucleoprotein 40 kDa protein
    Protein Accession:
    Q96DI7
    Secondary Accessions:
    • B4DQJ1
    • O75938
    • O95320

    Protein attributes for SNRNP40 Gene

    Size:
    357 amino acids
    Molecular mass:
    39311 Da
    Quaternary structure:
    • Identified in the spliceosome C complex. Part of the U5 snRNP complex. Interacts with PRPF8. Component of the U4/U6-U5 tri-snRNP complex composed of the U4, U6 and U5 snRNAs and at least PRPF3, PRPF4, PRPF6, PRPF8, PRPF31, SNRNP200, TXNL4A, WDR57, SNRNP40, DDX23, CD2BP2, PPIH, NHP2L1, EFTUD2, SART1 and USP39.
    SequenceCaution:
    • Sequence=AAC64084.1; Type=Frameshift; Positions=319; Note=An insertion/deletion of a short nucleotide stretch in its cDNA resulting in a frameshift.; Evidence={ECO:0000305};

    Alternative splice isoforms for SNRNP40 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SNRNP40 Gene

Proteomics data for SNRNP40 Gene at MOPED

Post-translational modifications for SNRNP40 Gene

  • Ubiquitination at Lys270 and Lys286
  • Modification sites at PhosphoSitePlus

Other Protein References for SNRNP40 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for SNRNP40 Gene

Domains for SNRNP40 Gene

Gene Families for SNRNP40 Gene

HGNC:
  • WDR :WD repeat domain containing

Suggested Antigen Peptide Sequences for SNRNP40 Gene

Graphical View of Domain Structure for InterPro Entry

Q96DI7

UniProtKB/Swiss-Prot:

SNR40_HUMAN :
  • Q96DI7
Similarity:
  • Contains 7 WD repeats.
genes like me logo Genes that share domains with SNRNP40: view

Function for SNRNP40 Gene

Molecular function for SNRNP40 Gene

UniProtKB/Swiss-Prot Function: Component of the U5 small nuclear ribonucleoprotein (snRNP) complex. The U5 snRNP is part of the spliceosome, a multiprotein complex that catalyzes the removal of introns from pre-messenger RNAs.

Gene Ontology (GO) - Molecular Function for SNRNP40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 9774689
GO:0044822 poly(A) RNA binding IDA 22658674
genes like me logo Genes that share ontologies with SNRNP40: view

miRNA for SNRNP40 Gene

miRTarBase miRNAs that target SNRNP40

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for SNRNP40 Gene

Localization for SNRNP40 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SNRNP40 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SNRNP40 Gene COMPARTMENTS Subcellular localization image for SNRNP40 gene
Compartment Confidence
nucleus 5
cytosol 3
extracellular 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SNRNP40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005654 nucleoplasm TAS --
GO:0005682 U5 snRNP TAS 9774689
GO:0005732 small nucleolar ribonucleoprotein complex NAS 9774689
GO:0005737 cytoplasm IDA --
genes like me logo Genes that share ontologies with SNRNP40: view

Pathways for SNRNP40 Gene

genes like me logo Genes that share pathways with SNRNP40: view

Pathways by source for SNRNP40 Gene

1 KEGG pathway for SNRNP40 Gene

Gene Ontology (GO) - Biological Process for SNRNP40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000375 RNA splicing, via transesterification reactions TAS 9774689
GO:0000398 mRNA splicing, via spliceosome TAS --
GO:0006396 RNA processing TAS 9774689
GO:0008380 RNA splicing TAS --
GO:0010467 gene expression TAS --
genes like me logo Genes that share ontologies with SNRNP40: view

Transcripts for SNRNP40 Gene

Unigene Clusters for SNRNP40 Gene

Small nuclear ribonucleoprotein 40kDa (U5):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SNRNP40 Gene

No ASD Table

Relevant External Links for SNRNP40 Gene

GeneLoc Exon Structure for
SNRNP40
ECgene alternative splicing isoforms for
SNRNP40

Expression for SNRNP40 Gene

mRNA expression in normal human tissues for SNRNP40 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SNRNP40 Gene

SOURCE GeneReport for Unigene cluster for SNRNP40 Gene Hs.33962

genes like me logo Genes that share expressions with SNRNP40: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for SNRNP40 Gene

Orthologs for SNRNP40 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SNRNP40 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SNRNP40 35
  • 99.35 (n)
  • 99.72 (a)
SNRNP40 36
  • 85 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SNRNP40 35
  • 90.94 (n)
  • 97.2 (a)
SNRNP40 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SNRNP40 35
  • 91.41 (n)
  • 97.2 (a)
SNRNP40 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Snrnp40 35
  • 89.08 (n)
  • 98.32 (a)
Snrnp40 16
Snrnp40 36
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SNRNP40 36
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 81 (a)
OneToMany
-- 36
  • 93 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Snrnp40 35
  • 88.8 (n)
  • 98.88 (a)
chicken
(Gallus gallus)
Aves SNRNP40 35
  • 79.62 (n)
  • 92.96 (a)
SNRNP40 36
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SNRNP40 36
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia snrnp40 35
  • 78.24 (n)
  • 91.39 (a)
Str.6725 35
zebrafish
(Danio rerio)
Actinopterygii snrnp40 35
  • 74.88 (n)
  • 85.51 (a)
snrnp40 36
  • 85 (a)
OneToOne
zgc56312 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009506 35
  • 57.06 (n)
  • 61.47 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG3436 35
  • 59.55 (n)
  • 61.46 (a)
CG3436 36
  • 57 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C18E3.5 36
  • 53 (a)
OneToMany
F08G12.2 35
  • 58.07 (n)
  • 56.21 (a)
F08G12.2 36
  • 55 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G43770 35
  • 60.59 (n)
  • 59.88 (a)
corn
(Zea mays)
Liliopsida Zm.13837 35
rice
(Oryza sativa)
Liliopsida Os.4736 35
Os06g0653800 35
  • 58.31 (n)
  • 58.51 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.7772 35
bread mold
(Neurospora crassa)
Ascomycetes NCU05797 35
  • 50.73 (n)
  • 47.48 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes spf38 35
  • 52.67 (n)
  • 44.23 (a)
Species with no ortholog for SNRNP40:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • 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 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for SNRNP40 Gene

ENSEMBL:
Gene Tree for SNRNP40 (if available)
TreeFam:
Gene Tree for SNRNP40 (if available)

Paralogs for SNRNP40 Gene

Paralogs for SNRNP40 Gene

Selected SIMAP similar genes for SNRNP40 Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for SNRNP40 Gene

genes like me logo Genes that share paralogs with SNRNP40: view

Variants for SNRNP40 Gene

Sequence variations from dbSNP and Humsavar for SNRNP40 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs1001614 -- 31,293,738(+) tagca(A/T)gccat intron-variant
rs1044328 -- 31,289,300(-) CAGGA(A/G)AGGCC missense, reference
rs1532858 -- 31,289,527(-) GCACA(A/G)CAGGT intron-variant
rs1532859 -- 31,289,142(-) GTCAT(C/T)TCCCA intron-variant
rs1532861 -- 31,293,644(-) tgatc(A/G)cacta intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SNRNP40 Gene

Variant ID Type Subtype PubMed ID
dgv46e1 CNV Complex 17122850
nsv161067 CNV Loss 16902084
nsv10051 CNV Gain 18304495

Relevant External Links for SNRNP40 Gene

HapMap Linkage Disequilibrium report
SNRNP40

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SNRNP40 Gene

Disorders for SNRNP40 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for SNRNP40 Gene including...

Search for SNRNP40 Gene in MalaCards »
genes like me logo Genes that share disorders with SNRNP40: view

No data available for UniProtKB/Swiss-Prot for SNRNP40 Gene

Publications for SNRNP40 Gene

  1. Mass spectrometry and EST-database searching allows characterization of the multi-protein spliceosome complex. (PMID: 9731529) Neubauer G. … Mann M. (Nat. Genet. 1998) 2 3 4
  2. The human U5-220kD protein (hPrp8) forms a stable RNA-free complex with several U5-specific proteins, including an RNA unwindase, a homologue of ribosomal elongation factor EF-2, and a novel WD-40 protein. (PMID: 9774689) Achsel T. … Luehrmann R. (Mol. Cell. Biol. 1998) 2 3 4
  3. The human homologue of the yeast splicing factor Prp6p contains multiple TPR elements and is stably associated with the U5 snRNP via protein-protein interactions. (PMID: 10788320) Makarov E.M. … Luehrmann R. (J. Mol. Biol. 2000) 2 3
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. Purification and characterization of native spliceosomes suitable for three-dimensional structural analysis. (PMID: 11991638) Jurica M.S. … Moore M.J. (RNA 2002) 3 4

Products for SNRNP40 Gene

Sources for SNRNP40 Gene

Back to Top

Content