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Aliases for RSPRY1 Gene

Aliases for RSPRY1 Gene

  • Ring Finger And SPRY Domain Containing 1 2 3 5
  • RING Finger And SPRY Domain-Containing Protein 1 3
  • 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. Diseases associated with RSPRY1 include Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type and Spondyloepimetaphyseal Dysplasia. Among its related pathways are MAPK-Erk Pathway. GO annotations related to this gene include binding. An important paralog of this gene is RNF123.

Additional gene information for RSPRY1 Gene

No data available for CIViC summary , 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 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
GH16H057626 1.6 Ensembl ENCODE dbSUPER 149.8 +442.6 442648 4.8 HDGF PKNOX1 SIN3A YBX1 ZNF2 ZNF766 ZNF302 ZNF416 ZNF207 ZNF548 RSPRY1 LOC101927556 POLR2C NUP93 LOC105371286 SETD6 LOC100421594 LOC100125393 ENSG00000260148 RN7SL645P
GH16H056964 1.3 Ensembl ENCODE 88.6 -220.7 -220743 2.5 ARNT ARID4B DMAP1 SLC30A9 ZNF207 ZNF143 FOS DEK SP5 ZC3H11A RSPRY1 NLRC5 HERPUD1 FAM192A NUDT21 POLR2C GC16M056955 GC16M056973
GH16H056930 1.4 ENCODE dbSUPER 76.5 -250.6 -250619 10.1 MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 SP3 NFYC ZFP41 RSPRY1 NUDT21 POLR2C NUP93 CETP SLC12A3 LOC105371286 ENSG00000261270 CCDC102A NLRC5
GH16H058125 1.8 FANTOM5 ENCODE dbSUPER 55.8 +941.8 941830 4.6 MLX FEZF1 DMAP1 YY1 ZNF416 ZNF143 SP3 NFYC MEF2D SSRP1 RSPRY1 CNOT1 LOC101927556 POLR2C CFAP20 CSNK2A2 CCL17 ENSG00000260545
GH16H057298 1.7 Ensembl ENCODE dbSUPER 47.5 +113.9 113943 2.8 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC ZC3H11A PPARGC1A MEF2D SSRP1 RSPRY1 POLR2C CSNK2A2 FAM192A CCL22 CX3CL1 ARL2BP CIAPIN1 COQ9 NUDT21
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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

Genomic Locations for RSPRY1 Gene

Genomic Locations for RSPRY1 Gene
54,339 bases
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:
    Recommended name:
    RING finger and SPRY domain-containing protein 1
    Protein Accession:
    Secondary Accessions:
    • Q6UX21
    • Q8ND53

    Protein attributes for RSPRY1 Gene

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

    Alternative splice isoforms for RSPRY1 Gene


neXtProt entry for RSPRY1 Gene

Post-translational modifications for RSPRY1 Gene

Antibody Products

  • Abcam antibodies for RSPRY1
  • Santa Cruz Biotechnology (SCBT) Antibodies for RSPRY1

No data available for DME Specific Peptides for RSPRY1 Gene

Domains & Families for RSPRY1 Gene

Gene Families for RSPRY1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

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

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

No data available for UniProtKB/Swiss-Prot for RSPRY1 Gene

Function for RSPRY1 Gene

Phenotypes From GWAS Catalog for RSPRY1 Gene

Gene Ontology (GO) - Molecular Function for RSPRY1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with RSPRY1: view
genes like me logo Genes that share phenotypes with RSPRY1: view

Human Phenotype Ontology for RSPRY1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

miRNA for RSPRY1 Gene

miRTarBase miRNAs that target RSPRY1

Clone Products

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

Localization for RSPRY1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RSPRY1 Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RSPRY1 gene
Compartment Confidence
extracellular 4
plasma membrane 2
nucleus 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for RSPRY1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with RSPRY1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RSPRY1 Gene

Pathways & Interactions for RSPRY1 Gene

SuperPathways for RSPRY1 Gene

SuperPathway Contained pathways
1 MAPK-Erk Pathway
genes like me logo Genes that share pathways with RSPRY1: view

Pathways by source for RSPRY1 Gene

1 Sino Biological pathway for RSPRY1 Gene

Gene Ontology (GO) - Biological Process for RSPRY1 Gene


No data available for 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:

Clone Products

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: - - - - - - - - - -
SP7: - - -
SP9: - - -
SP10: -

ExUns: 15b ^ 16 ^ 17 ^ 18 ^ 19

Relevant External Links for RSPRY1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for RSPRY1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for RSPRY1 Gene

Protein tissue co-expression partners for RSPRY1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RSPRY1 Gene:


SOURCE GeneReport for Unigene cluster for RSPRY1 Gene:


Evidence on tissue expression from TISSUES for RSPRY1 Gene

  • Nervous system(4.7)
  • Liver(4.2)
genes like me logo Genes that share expression patterns with RSPRY1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
(Pan troglodytes)
Mammalia RSPRY1 33 34
  • 99.77 (n)
(Canis familiaris)
Mammalia RSPRY1 33 34
  • 94.5 (n)
(Bos Taurus)
Mammalia RSPRY1 33 34
  • 93.81 (n)
(Rattus norvegicus)
Mammalia Rspry1 33
  • 92.42 (n)
(Mus musculus)
Mammalia Rspry1 33 16 34
  • 92.36 (n)
(Ornithorhynchus anatinus)
Mammalia RSPRY1 34
  • 90 (a)
(Monodelphis domestica)
Mammalia RSPRY1 34
  • 88 (a)
(Gallus gallus)
Aves RSPRY1 33 34
  • 80.29 (n)
(Anolis carolinensis)
Reptilia RSPRY1 34
  • 84 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia rspry1 33
  • 75.12 (n)
Str.19431 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.22817 33
(Danio rerio)
Actinopterygii rspry1 33 34
  • 70.95 (n)
Dr.13269 33
(Caenorhabditis elegans)
Secernentea F16A11.1 33 34
  • 56.37 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2646 34
  • 54 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3775 33
Species where no ortholog for RSPRY1 was found in the sources mined by GeneCards:
  • 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

Gene Tree for RSPRY1 (if available)
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
rs864309652 Pathogenic, Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type (SEMDFA) [MIM:616723] 57,204,779(+) CCATG(G/T)GTAAT reference, missense, utr-variant-5-prime
rs864309651 Pathogenic 57,230,716(+) AGATA(-/A)CAGTA reference, frameshift-variant
rs1000131739 -- 57,226,920(+) ATACA(A/G)GTGTA intron-variant
rs1000159032 -- 57,219,935(+) TATGT(C/T)CTTGG intron-variant
rs1000256645 -- 57,186,918(+) ACGGT(C/G)TAGGT intron-variant, upstream-variant-2KB, utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
nsv958848 CNV deletion 24416366
nsv1113812 CNV deletion 24896259
esv3553473 CNV deletion 23714750
esv2714525 CNV deletion 23290073
esv2714524 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)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for RSPRY1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for RSPRY1 Gene - From: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spondyloepimetaphyseal dysplasia, faden-alkuraya type
  • progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
spondyloepimetaphyseal dysplasia
  • spondyloepimetaphyseal dysplasia matrilin-3 related
- elite association - COSMIC cancer census association via MalaCards


  • Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type (SEMDFA) [MIM:616723]: An autosomal recessive skeletal disorder characterized by spondyloepimetaphyseal dysplasia, short stature, facial dysmorphism, short fourth metatarsals, and intellectual disability. {ECO:0000269 PubMed:26365341}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for RSPRY1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with RSPRY1: view

No data available for 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 research : an international journal for rapid publication of reports on genes and genomes 2001) 2 3 4 60
  2. Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations. (PMID: 26365341) Faden M … Alkuraya FS (American journal of human genetics 2015) 3 4 60
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4 60

Products for RSPRY1 Gene

Sources for RSPRY1 Gene

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