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Aliases for SNU13 Gene

Aliases for SNU13 Gene

  • SNU13 Homolog, Small Nuclear Ribonucleoprotein (U4/U6.U5) 2 3 5
  • High Mobility Group-Like Nuclear Protein 2 Homolog 1 3 4
  • Small Nuclear Ribonucleoprotein 15.5kDa (U4/U6.U5) 2 3
  • U4/U6.U5 Small Nuclear Ribonucleoprotein SNU13 3 4
  • U4/U6.U5 Tri-SnRNP 15.5 KDa Protein 3 4
  • Sperm Specific Antigen 1 2 3
  • NHP2L1 3 4
  • OTK27 3 4
  • NHP2 Non-Histone Chromosome Protein 2-Like 1 (S. Cerevisiae) 2
  • Non-Histone Chromosome Protein 2 (S. Cerevisiae)-Like 1 2
  • [U4/U6.U5] Tri-SnRNP 15.5 KD RNA Binding Protein 3
  • NHP2 Non-Histone Chromosome Protein 2-Like 1 3
  • Non-Histone Chromosome Protein 2-Like 1 3
  • NHP2-Like Protein 1 3
  • SNU13 Homolog 4
  • SNRNP15-5 3
  • SPAG12 3
  • HSNU13 4
  • 15.5K 3
  • SSFA1 3
  • FA-1 3
  • NHPX 3
  • FA1 3

External Ids for SNU13 Gene

Previous HGNC Symbols for SNU13 Gene

  • SSFA1
  • NHP2L1

Summaries for SNU13 Gene

Entrez Gene Summary for SNU13 Gene

  • Originally named because of its sequence similarity to the Saccharomyces cerevisiae NHP2 (non-histone protein 2), this protein appears to be a highly conserved nuclear protein that is a component of the [U4/U6.U5] tri-snRNP. It binds to the 5' stem-loop of U4 snRNA. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for SNU13 Gene

SNU13 (SNU13 Homolog, Small Nuclear Ribonucleoprotein (U4/U6.U5)) is a Protein Coding gene. Diseases associated with SNU13 include Fanconi Anemia, Complementation Group A. Among its related pathways are mRNA Splicing - Major Pathway and rRNA processing.

UniProtKB/Swiss-Prot for SNU13 Gene

  • Binds to the 5-stem-loop of U4 snRNA and may play a role in the late stage of spliceosome assembly. The protein undergoes a conformational change upon RNA-binding.

Gene Wiki entry for SNU13 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SNU13 Gene

Genomics for SNU13 Gene

Regulatory Elements for SNU13 Gene

Enhancers for SNU13 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around SNU13 on UCSC Golden Path with GeneCards custom track

Genomic Location for SNU13 Gene

Chromosome:
22
Start:
41,673,930 bp from pter
End:
41,690,504 bp from pter
Size:
16,575 bases
Orientation:
Minus strand

Genomic View for SNU13 Gene

Genes around SNU13 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SNU13 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SNU13 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SNU13 Gene

Proteins for SNU13 Gene

  • Protein details for SNU13 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P55769-NH2L1_HUMAN
    Recommended name:
    NHP2-like protein 1
    Protein Accession:
    P55769

    Protein attributes for SNU13 Gene

    Size:
    128 amino acids
    Molecular mass:
    14174 Da
    Quaternary structure:
    • 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. Interacts with RAD17 and PRPF31.

    Three dimensional structures from OCA and Proteopedia for SNU13 Gene

neXtProt entry for SNU13 Gene

Post-translational modifications for SNU13 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SNU13 Gene

No data available for DME Specific Peptides for SNU13 Gene

Domains & Families for SNU13 Gene

Graphical View of Domain Structure for InterPro Entry

P55769

UniProtKB/Swiss-Prot:

NH2L1_HUMAN :
  • Belongs to the ribosomal protein L7Ae family.
Family:
  • Belongs to the ribosomal protein L7Ae family.
genes like me logo Genes that share domains with SNU13: view

No data available for Gene Families for SNU13 Gene

Function for SNU13 Gene

Molecular function for SNU13 Gene

UniProtKB/Swiss-Prot Function:
Binds to the 5-stem-loop of U4 snRNA and may play a role in the late stage of spliceosome assembly. The protein undergoes a conformational change upon RNA-binding.

Gene Ontology (GO) - Molecular Function for SNU13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 10593953
GO:0030515 contributes_to snoRNA binding IDA 17636026
GO:0030621 U4 snRNA binding IDA 11081632
GO:0030622 U4atac snRNA binding IDA 16857676
GO:0034511 U3 snoRNA binding IDA 11081632
genes like me logo Genes that share ontologies with SNU13: view
genes like me logo Genes that share phenotypes with SNU13: view

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SNU13 Gene

Localization for SNU13 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SNU13 Gene

Nucleus, nucleolus. Note=Concentrated in the dense fibrillar component of the nucleolus.

Gene Ontology (GO) - Cellular Components for SNU13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001651 dense fibrillar component IDA 10593953
GO:0005634 nucleus TAS 8978773
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IDA 10593953
GO:0022625 NOT cytosolic large ribosomal subunit IBA --
genes like me logo Genes that share ontologies with SNU13: view

No data available for Subcellular locations from COMPARTMENTS for SNU13 Gene

Pathways & Interactions for SNU13 Gene

genes like me logo Genes that share pathways with SNU13: view

Gene Ontology (GO) - Biological Process for SNU13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000398 mRNA splicing, via spliceosome TAS --
GO:0000470 maturation of LSU-rRNA IBA --
GO:0006364 rRNA processing TAS --
GO:0006412 NOT translation IBA --
GO:0030490 maturation of SSU-rRNA IBA --
genes like me logo Genes that share ontologies with SNU13: view

No data available for SIGNOR curated interactions for SNU13 Gene

Drugs & Compounds for SNU13 Gene

(2) Drugs for SNU13 Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Alpha-Hydroxy-Beta-Phenyl-Propionic Acid Experimental Pharma Target 0
Anisomycin Experimental Pharma Target JNK agonist, potent and specific 0
genes like me logo Genes that share compounds with SNU13: view

Transcripts for SNU13 Gene

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SNU13 Gene

No ASD Table

Relevant External Links for SNU13 Gene

GeneLoc Exon Structure for
SNU13
ECgene alternative splicing isoforms for
SNU13

Expression for SNU13 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of SNU13 Gene:

SNU13

mRNA Expression by UniProt/SwissProt for SNU13 Gene:

P55769-NH2L1_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with SNU13: view

Primer Products

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for SNU13 Gene

Orthologs for SNU13 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SNU13 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia NHP2L1 34
  • 90.62 (n)
  • 100 (a)
NHP2L1 35
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NHP2L1 34
  • 93.75 (n)
  • 100 (a)
NHP2L1 35
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nhp2l1 34
  • 89.84 (n)
  • 100 (a)
Nhp2l1 16
Gm5616 35
  • 100 (a)
OneToMany
Nhp2l1 35
  • 100 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia NHP2L1 34
  • 98.96 (n)
  • 100 (a)
NHP2L1 35
  • 96 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nhp2l1 34
  • 89.32 (n)
  • 100 (a)
oppossum
(Monodelphis domestica)
Mammalia NHP2L1 35
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NHP2L1 35
  • 97 (a)
OneToOne
chicken
(Gallus gallus)
Aves NHP2L1 34
  • 79.27 (n)
  • 92.91 (a)
NHP2L1 35
  • 93 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NHP2L1 35
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC75724 34
nhp2l1 34
  • 77.86 (n)
  • 92.19 (a)
zebrafish
(Danio rerio)
Actinopterygii -- 34
nhp2l1b 34
  • 78.12 (n)
  • 90.62 (a)
nhp2l1a 35
  • 90 (a)
OneToMany
nhp2l1b 35
  • 91 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8678 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008163 34
  • 72.58 (n)
  • 83.87 (a)
fruit fly
(Drosophila melanogaster)
Insecta hoip 34
  • 72.44 (n)
  • 78.74 (a)
hoip 35
  • 76 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea M28.5 34
  • 70.83 (n)
  • 77.34 (a)
M28.5 35
  • 77 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL070W 34
  • 65.3 (n)
  • 71.31 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E22529g 34
  • 63.11 (n)
  • 70.49 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SNU13 34
  • 63.66 (n)
  • 71.31 (a)
SNU13 35
  • 69 (a)
OneToOne
SNU13 37
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G20160 34
  • 68.23 (n)
  • 78.12 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.12809 34
rice
(Oryza sativa)
Liliopsida Os.12755 34
Os03g0241200 34
  • 69.53 (n)
  • 78.12 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.12661 34
corn
(Zea mays)
Liliopsida Zm.2052 34
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4606 34
bread mold
(Neurospora crassa)
Ascomycetes NCU01331 34
  • 62.68 (n)
  • 60.68 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes snu13 34
  • 63.69 (n)
  • 76.42 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5606 35
  • 78 (a)
OneToOne
Species where no ortholog for SNU13 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 SNU13 Gene

ENSEMBL:
Gene Tree for SNU13 (if available)
TreeFam:
Gene Tree for SNU13 (if available)

Paralogs for SNU13 Gene

genes like me logo Genes that share paralogs with SNU13: view

No data available for Paralogs for SNU13 Gene

Variants for SNU13 Gene

Sequence variations from dbSNP and Humsavar for SNU13 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs1802521 - 41,680,312(-) CCTCA(A/C)CAAGA reference, missense, utr-variant-3-prime
rs5996050 -- 41,678,211(+) acctc(A/G)tgatc intron-variant
rs6002436 -- 41,680,326(+) GCATC(A/G)GCAAG reference, synonymous-codon, utr-variant-3-prime
rs6002438 -- 41,686,243(+) TTCTC(G/T)GGATT intron-variant
rs6002439 -- 41,687,762(+) CTTTA(C/T)TTCAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SNU13 Gene

Variant ID Type Subtype PubMed ID
nsv524585 CNV loss 19592680
nsv834209 CNV loss 17160897

Variation tolerance for SNU13 Gene

Residual Variation Intolerance Score: 46.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.98; 20.21% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SNU13 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SNU13

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SNU13 Gene

Disorders for SNU13 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SNU13 Gene - From: OMIM

Disorder Aliases PubMed IDs
fanconi anemia, complementation group a
  • fanconi's anemia
- elite association - COSMIC cancer census association via MalaCards
Search SNU13 in MalaCards View complete list of genes associated with diseases

Relevant External Links for SNU13

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SNU13
genes like me logo Genes that share disorders with SNU13: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SNU13 Gene

Publications for SNU13 Gene

  1. Cloning and mapping of a human novel cDNA (NHP2L1) that encodes a protein highly homologous to yeast nuclear protein NHP2. (PMID: 8978773) Saito H. … Nakamura Y. (Cytogenet. Cell Genet. 1996) 2 3 4 22 65
  2. Binding of the human Prp31 Nop domain to a composite RNA-protein platform in U4 snRNP. (PMID: 17412961) Liu S. … Wahl M.C. (Science 2007) 2 3 4 65
  3. A dynamic scaffold of pre-snoRNP factors facilitates human box C/D snoRNP assembly. (PMID: 17636026) McKeegan K.S. … Watkins N.J. (Mol. Cell. Biol. 2007) 2 3 65
  4. Functional implications for a prototypical K-turn binding protein from structural and dynamical studies of 15.5K. (PMID: 18044964) Soss S.E. … Flynn P.F. (Biochemistry 2007) 3 4 65
  5. The network of protein-protein interactions within the human U4/U6.U5 tri-snRNP. (PMID: 16723661) Liu S. … Luehrmann R. (RNA 2006) 3 4 65

Products for SNU13 Gene

Sources for SNU13 Gene

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