RSPRY1 (ring finger and SPRY domain containing 1)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 89970
Gene name Ring finger and SPRY domain containing 1
Gene symbol RSPRY1
Synonyms (NCBI Gene)
SEMDFA
Chromosome 16
Chromosome location 16q13
Summary 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]
SNPs SNP information provided by dbSNP.
2
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (2)
SNP ID Visualize variation Clinical significance Consequence
rs864309651 ->A Pathogenic Coding sequence variant, genic downstream transcript variant, frameshift variant
rs864309652 G>T Pathogenic Coding sequence variant, 5 prime UTR variant, missense variant
miRNA miRNA information provided by mirtarbase database.
3
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (3)
miRTarBase ID miRNA Experiments Reference
MIRT025701 hsa-miR-7-5p Microarray 19073608
MIRT030734 hsa-miR-21-5p Microarray 18591254
MIRT049832 hsa-miR-92a-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
7
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (7)
GO ID Ontology Definition Evidence Reference
GO:0004842 Function Ubiquitin-protein transferase activity IBA
GO:0004842 Function Ubiquitin-protein transferase activity IEA
GO:0005576 Component Extracellular region IEA
GO:0005737 Component Cytoplasm IBA
GO:0008270 Function Zinc ion binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
616585 29420 ENSG00000159579
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96DX4
Protein name RING finger and SPRY domain-containing protein 1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00622 SPRY 360 → 481 SPRY domain Family
PF13920 zf-C3HC4_3 523 → 568 Domain
Sequence 
MIVFGWAVFLASRSLGQGLLLTLEEHIAHFLGTGGAATTMGNSCICRDDSGTDDSVDTQQ
QQAENSAVPTADTRSQPRDPVRPPRRGRGPHEPRRKKQNVDGLVLDTLAVIRTLVDNDQE
PPYSMITLHEMAETDEGWLDVVQSLIRVIPLEDPLGPAVITLLLDECPLPTKDALQKLTE
ILNLNGEVACQDSSHPAKHRNTSAVLGCLAEKLAGPASIGLLSPGILEYLLQCLKLQSHP
TVMLFALIALEKFAQTSENKLTISESSISDRLVTLESWANDPDYLKRQVGFCAQWSLDNL
FLKEGRQLTYEKVNLSSIRAMLNSNDVSEYLKISPHGLEARCDASSFESVRCTFCVDAGV
WYYEVTVVTSGVMQIGWATRDSKFLNHEGYGIGDDEYSCAYDGCRQLIWYNARSKPHIHP
CWKEGDTVGFLLDLNEKQMIFFLNGNQLPPEKQVFSSTVSGFFAAASFMSYQQCEFNFGA
KPFKYPPSMKFSTFNDYAFLTAEEKIILPRHRRLALLKQVSIRENCCSLCCDEVADTQLK
PCGHSDLCMDCALQLETCPLCRKEIVSRIRQISHIS
Sequence length 576
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome Pathogenic; Likely pathogenic rs2075214464, rs763629092, rs2545852484, rs864309651, rs864309652 RCV001330274
RCV001783695
RCV002285102
RCV000203230
RCV000203224
Show/Hide Unknown Diseases (5)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Likely benign rs756041587 RCV005905177
Colon adenocarcinoma Benign rs142839554 RCV005913311
Malignant tumor of esophagus Benign rs142839554 RCV005913312
RSPRY1-related disorder Benign rs60653561, rs58714624, rs147121129 RCV003918496
RCV003918497
RCV003930853
Show/Hide Text Mining Associations (11)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Brachydactyly Associate 38562122
Congenital disorder of glycosylation type 2A Associate 38562122
Facial Dysmorphism with Multiple Malformations Associate 38562122
Foot Deformities Associate 38562122
Growth Disorders Associate 38562122
Joint Dislocations Associate 38562122
Kozlowski Rafinski Klicharska syndrome Associate 39940902
Myotonia with Skeletal Abnormalities and Mental Retardation Associate 39940902
Slipped Capital Femoral Epiphyses Associate 38562122
Spondylocostal dysostosis autosomal recessive Associate 38562122