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Rspry1 ring finger and SPRY domain containing 1 [ Mus musculus (house mouse) ]

Gene ID: 67610, updated on 11-Apr-2024

Summary

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Official Symbol
Rspry1provided by MGI
Official Full Name
ring finger and SPRY domain containing 1provided by MGI
Primary source
MGI:MGI:1914860
See related
Ensembl:ENSMUSG00000050079 AllianceGenome:MGI:1914860
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
4930470D19Rik
Summary
Predicted to enable ubiquitin-protein transferase activity. Predicted to be involved in proteolysis involved in cellular protein catabolic process. Predicted to be located in extracellular region. Predicted to be active in cytoplasm. Is expressed in several structures, including forelimb bud; heart; limb; perichondrium; and periosteum. Orthologous to human RSPRY1 (ring finger and SPRY domain containing 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis adult (RPKM 9.0), CNS E11.5 (RPKM 8.2) and 28 other tissues See more
Orthologs
human all
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Genomic context

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Location:
8 C5; 8 46.6 cM
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (95328569..95386905)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (94601941..94660276)

Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene copine II Neighboring gene predicted gene, 38555 Neighboring gene STARR-seq mESC enhancer starr_22358 Neighboring gene proteasome activator subunit 3 interacting protein 1 Neighboring gene STARR-seq mESC enhancer starr_22359 Neighboring gene STARR-positive B cell enhancer mm9_chr8:97125541-97125842 Neighboring gene predicted gene, 57522 Neighboring gene ribosomal protein S2 pseudogene Neighboring gene STARR-positive B cell enhancer ABC_E8257 Neighboring gene ADP-ribosylation factor-like 2 binding protein Neighboring gene plasma membrane proteolipid Neighboring gene predicted gene, 53412

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations. Faden M, et al. Am J Hum Genet, 2015 Oct 1. PMID 26365341, Free PMC Article
  2. Isolation, expression analysis and characterization of NEFA-interacting nuclear protein 30 and RING finger and SPRY domain containing 1 in skeletal muscle. Waddell DS, et al. Gene, 2016 Jan 15. PMID 26497270
  3. Targeting a complex transcriptome: the construction of the mouse full-length cDNA encyclopedia. Carninci P, et al. Genome Res, 2003 Jun. PMID 12819125, Free PMC Article
  4. A mouse knockout library for secreted and transmembrane proteins. Tang T, et al. Nat Biotechnol, 2010 Jul. PMID 20562862
  5. Prediction of the coding sequences of mouse homologues of KIAA gene: IV. The complete nucleotide sequences of 500 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. Okazaki N, et al. DNA Res, 2004 Jun 30. PMID 15368895

See all (20) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Rspry1 is expressed in skeletal muscle.Nip30 and Rspry1 common promoter region contains a conserved E-box element. Rspry1 localizes to the cytoplasm.
    Title: Isolation, expression analysis and characterization of NEFA-interacting nuclear protein 30 and RING finger and SPRY domain containing 1 in skeletal muscle.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (1)  1 citation
  • Endonuclease-mediated (1) 

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables ubiquitin-protein transferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in proteolysis involved in protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
RING finger and SPRY domain-containing protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001359093.1 → NP_001346022.1  RING finger and SPRY domain-containing protein 1 precursor

    Status: VALIDATED

    Source sequence(s)
    AC102358, AC123826
    Consensus CDS
    CCDS22544.1
    UniProtKB/Swiss-Prot
    Q3T9F1, Q3TM35, Q3U802, Q3UKF9, Q3UYN5, Q8BMH0, Q8BVR6, Q8C039, Q9CZ54
    Related
    ENSMUSP00000148737.2, ENSMUST00000211983.2
    Conserved Domains (2) summary
    cd12883
    Location:359 → 479
    SPRY_RING; SPRY domain at N-terminus of Really Interesting New Gene (RING) finger domain
    cd16566
    Location:525 → 565
    RING-HC_RSPRY1; RING finger, HC subclass, found in RING finger and SPRY domain-containing protein 1 (RSPRY1) and similar proteins

  2. NM_026274.4 → NP_080550.3  RING finger and SPRY domain-containing protein 1 precursor

    See identical proteins and their annotated locations for NP_080550.3

    Status: VALIDATED

    Source sequence(s)
    AK076799, AK173313, BX517909, BY247485, BY793790
    Consensus CDS
    CCDS22544.1
    UniProtKB/Swiss-Prot
    Q3T9F1, Q3TM35, Q3U802, Q3UKF9, Q3UYN5, Q8BMH0, Q8BVR6, Q8C039, Q9CZ54
    Related
    ENSMUSP00000057275.9, ENSMUST00000060389.10
    Conserved Domains (2) summary
    cd12883
    Location:359 → 479
    SPRY_RING; SPRY domain at N-terminus of Really Interesting New Gene (RING) finger domain
    cd16566
    Location:525 → 565
    RING-HC_RSPRY1; RING finger, HC subclass, found in RING finger and SPRY domain-containing protein 1 (RSPRY1) and similar proteins

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000074.7 Reference GRCm39 C57BL/6J

    Range
    95328569..95386905
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036154253.1 → XP_036010146.1  RING finger and SPRY domain-containing protein 1 isoform X2

    Conserved Domains (2) summary
    cd12883
    Location:117 → 237
    SPRY_RING; SPRY domain at N-terminus of Really Interesting New Gene (RING) finger domain
    cd16566
    Location:283 → 323
    RING-HC_RSPRY1; RING finger, HC subclass, found in RING finger and SPRY domain-containing protein 1 (RSPRY1) and similar proteins

  2. XM_036154252.1 → XP_036010145.1  RING finger and SPRY domain-containing protein 1 isoform X1

    UniProtKB/Swiss-Prot
    Q3T9F1, Q3TM35, Q3U802, Q3UKF9, Q3UYN5, Q8BMH0, Q8BVR6, Q8C039, Q9CZ54
    Conserved Domains (2) summary
    cd12883
    Location:359 → 479
    SPRY_RING; SPRY domain at N-terminus of Really Interesting New Gene (RING) finger domain
    cd16566
    Location:525 → 565
    RING-HC_RSPRY1; RING finger, HC subclass, found in RING finger and SPRY domain-containing protein 1 (RSPRY1) and similar proteins
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8BVR6.1 GenPept UniProtKB/Swiss-Prot:Q8BVR6

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