RSPRY1 (ring finger and SPRY domain containing 1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
89970
Gene name Gene Name - the full gene name approved by the HGNC.
Ring finger and SPRY domain containing 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RSPRY1
Synonyms (NCBI Gene) Gene synonyms aliases
SEMDFA
Disease Acronyms (UniProt) Disease acronyms from UniProt database
SEMDFA
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16q13
Summary Summary of gene provided in NCBI Entrez 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]
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(6)
GO ID Ontology Definition Evidence Reference
GO:0004842 Function Ubiquitin-protein transferase activity IBA 21873635
GO:0005576 Component Extracellular region IEA
GO:0005737 Component Cytoplasm IBA 21873635
GO:0016567 Process Protein ubiquitination IEA
GO:0046872 Function Metal ion binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
616585 29420 ENSG00000159579
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (5)
Causal
Disease term Disease name dbSNP ID References
Craniosynostosis Craniosynostosis rs104893895, rs587777006, rs587777007, rs587777008, rs587777010, rs864321680, rs864321681, rs1057517670, rs1064794325, rs1555750816, rs1599823350
Mental retardation Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
Microcephaly Microcephaly rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019
View all (280 more)
Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome rs864309651, rs864309652
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Ptosis Blepharoptosis, Ptosis ClinVar
Show/Hide Text Mining Associations (11)
Associations from Text Mining
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