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

    Gene ID: 67610, updated on 27-Nov-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 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, Nov 2024]
    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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    See Rspry1 in Genome Data Viewer
    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)
    • Endonuclease-mediated (1) 
    • Targeted (1)  1 citation

    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
    		  
    enables ubiquitin-protein transferase activity IEA
    Inferred from Electronic Annotation
    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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