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Aliases for RSPRY1 Gene

Aliases for RSPRY1 Gene

  • Ring Finger And SPRY Domain Containing 1 2 3 5
  • KIAA1972 4
  • SEMDFA 3

External Ids for RSPRY1 Gene

Previous GeneCards Identifiers for RSPRY1 Gene

  • GC16P055779
  • GC16P043089

Summaries for RSPRY1 Gene

Entrez Gene Summary for RSPRY1 Gene

  • This gene encodes a glycoprotein that contains a RING-type zinc finger domain and an SPRY domain of unknown function. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015]

GeneCards Summary for RSPRY1 Gene

RSPRY1 (Ring Finger And SPRY Domain Containing 1) is a Protein Coding gene. GO annotations related to this gene include binding. An important paralog of this gene is RNF123.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RSPRY1 Gene

Genomics for RSPRY1 Gene

Regulatory Elements for RSPRY1 Gene

Enhancers for RSPRY1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around RSPRY1 on UCSC Golden Path with GeneCards custom track

Promoters for RSPRY1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RSPRY1 on UCSC Golden Path with GeneCards custom track

Genomic Location for RSPRY1 Gene

Chromosome:
16
Start:
57,186,137 bp from pter
End:
57,240,475 bp from pter
Size:
54,339 bases
Orientation:
Plus strand

Genomic View for RSPRY1 Gene

Genes around RSPRY1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RSPRY1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RSPRY1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RSPRY1 Gene

Proteins for RSPRY1 Gene

  • Protein details for RSPRY1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96DX4-RSPRY_HUMAN
    Recommended name:
    RING finger and SPRY domain-containing protein 1
    Protein Accession:
    Q96DX4
    Secondary Accessions:
    • Q6UX21
    • Q8ND53

    Protein attributes for RSPRY1 Gene

    Size:
    576 amino acids
    Molecular mass:
    64180 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for RSPRY1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RSPRY1 Gene

Proteomics data for RSPRY1 Gene at MOPED

Post-translational modifications for RSPRY1 Gene

No data available for DME Specific Peptides for RSPRY1 Gene

Domains & Families for RSPRY1 Gene

Gene Families for RSPRY1 Gene

Protein Domains for RSPRY1 Gene

Suggested Antigen Peptide Sequences for RSPRY1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96DX4

UniProtKB/Swiss-Prot:

RSPRY_HUMAN :
  • Contains 1 B30.2/SPRY domain.
  • Contains 1 RING-type zinc finger.
Domain:
  • Contains 1 B30.2/SPRY domain.
Similarity:
  • Contains 1 RING-type zinc finger.
genes like me logo Genes that share domains with RSPRY1: view

Function for RSPRY1 Gene

Gene Ontology (GO) - Molecular Function for RSPRY1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with RSPRY1: view
genes like me logo Genes that share phenotypes with RSPRY1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for RSPRY1

miRNA for RSPRY1 Gene

miRTarBase miRNAs that target RSPRY1

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RSPRY1 Gene

Localization for RSPRY1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RSPRY1 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RSPRY1 Gene COMPARTMENTS Subcellular localization image for RSPRY1 gene
Compartment Confidence
extracellular 4
plasma membrane 2
cytosol 1
endoplasmic reticulum 1
nucleus 1

No data available for Gene Ontology (GO) - Cellular Components for RSPRY1 Gene

Pathways & Interactions for RSPRY1 Gene

SuperPathways for RSPRY1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RSPRY1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for RSPRY1 Gene

Drugs & Compounds for RSPRY1 Gene

No Compound Related Data Available

Transcripts for RSPRY1 Gene

Unigene Clusters for RSPRY1 Gene

Ring finger and SPRY domain containing 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RSPRY1 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e · 2f ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14 ^ 15a ·
SP1: - - - - - -
SP2: - - - - - - - -
SP3: - - - -
SP4: -
SP5: - - - - - - - - - -
SP6:
SP7: - - -
SP8:
SP9: - - -
SP10: -
SP11:

ExUns: 15b ^ 16 ^ 17 ^ 18 ^ 19
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for RSPRY1 Gene

GeneLoc Exon Structure for
RSPRY1
ECgene alternative splicing isoforms for
RSPRY1

Expression for RSPRY1 Gene

mRNA expression in normal human tissues for RSPRY1 Gene

Protein differential expression in normal tissues from HIPED for RSPRY1 Gene

This gene is overexpressed in Testis (30.9) and Peripheral blood mononuclear cells (23.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for RSPRY1 Gene



SOURCE GeneReport for Unigene cluster for RSPRY1 Gene Hs.460885

genes like me logo Genes that share expression patterns with RSPRY1: view

Protein tissue co-expression partners for RSPRY1 Gene

- Elite partner

Primer 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 RSPRY1 Gene

Orthologs for RSPRY1 Gene

This gene was present in the common ancestor of animals.

Orthologs for RSPRY1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia RSPRY1 35
  • 93.81 (n)
  • 96.87 (a)
RSPRY1 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RSPRY1 35
  • 94.5 (n)
  • 97.22 (a)
RSPRY1 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rspry1 35
  • 92.36 (n)
  • 96.7 (a)
Rspry1 16
Rspry1 36
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RSPRY1 35
  • 99.77 (n)
  • 100 (a)
RSPRY1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rspry1 35
  • 92.42 (n)
  • 96.7 (a)
oppossum
(Monodelphis domestica)
Mammalia RSPRY1 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RSPRY1 36
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves RSPRY1 35
  • 80.29 (n)
  • 86.78 (a)
RSPRY1 36
  • 87 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RSPRY1 36
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rspry1 35
  • 75.12 (n)
  • 81.47 (a)
Str.19431 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.22817 35
zebrafish
(Danio rerio)
Actinopterygii Dr.13269 35
rspry1 35
  • 70.95 (n)
  • 78.65 (a)
rspry1 36
  • 78 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F16A11.1 35
  • 56.37 (n)
  • 52.73 (a)
F16A11.1 36
  • 38 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3775 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2646 36
  • 54 (a)
OneToOne
Species with no ortholog for RSPRY1:
  • 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 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)

Evolution for RSPRY1 Gene

ENSEMBL:
Gene Tree for RSPRY1 (if available)
TreeFam:
Gene Tree for RSPRY1 (if available)

Paralogs for RSPRY1 Gene

Paralogs for RSPRY1 Gene

genes like me logo Genes that share paralogs with RSPRY1: view

Variants for RSPRY1 Gene

Sequence variations from dbSNP and Humsavar for RSPRY1 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs4238792 -- 57,201,824(+) CGTGG(C/T)GGTGC intron-variant
rs4238793 -- 57,201,864(+) TGAGG(C/T)AGGAG intron-variant
rs4287561 -- 57,210,075(+) ccttc(C/T)ttcct intron-variant
rs4330777 -- 57,201,732(+) ctggc(A/G)gatca intron-variant
rs4503784 -- 57,201,690(+) acgcg(A/C)ctccg intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RSPRY1 Gene

Variant ID Type Subtype PubMed ID
esv2714524 CNV Deletion 23290073
esv2714525 CNV Deletion 23290073

Variation tolerance for RSPRY1 Gene

Residual Variation Intolerance Score: 14.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.31; 26.00% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RSPRY1 Gene

Human Gene Mutation Database (HGMD)
RSPRY1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RSPRY1 Gene

Disorders for RSPRY1 Gene

Relevant External Links for RSPRY1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RSPRY1

No disorders were found for RSPRY1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RSPRY1 Gene

Publications for RSPRY1 Gene

  1. Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins. (PMID: 11853319) Nagase T. … Ohara O. (DNA Res. 2001) 2 3 4 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations. (PMID: 26365341) Faden M. … Alkuraya F.S. (Am. J. Hum. Genet. 2015) 3
  4. Ubiquitin-mediated proteolysis of HuR by heat shock. (PMID: 19322201) Abdelmohsen K. … Gorospe M. (EMBO J. 2009) 3
  5. Analysis of the human E2 ubiquitin conjugating enzyme protein interaction network. (PMID: 19549727) Markson G. … Sanderson C.M. (Genome Res. 2009) 3

Products for RSPRY1 Gene

Sources for RSPRY1 Gene

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