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    RSPRY1 ring finger and SPRY domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 89970, updated on 2-Nov-2024

    Summary

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    Official Symbol
    RSPRY1provided by HGNC
    Official Full Name
    ring finger and SPRY domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:29420
    See related
    Ensembl:ENSG00000159579 MIM:616585; AllianceGenome:HGNC:29420
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SEMDFA
    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]
    Expression
    Ubiquitous expression in testis (RPKM 11.4), thyroid (RPKM 9.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RSPRY1 in Genome Data Viewer
    Location:
    16q13
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (57186152..57240469)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (62982343..63036458)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (57220241..57274381)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7521 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7522 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:57137039-57137994 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:57139274-57139873 Neighboring gene copine 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10882 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10883 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7523 Neighboring gene Sharpr-MPRA regulatory region 3054 Neighboring gene Sharpr-MPRA regulatory region 6435 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:57183845-57184634 Neighboring gene proteasome activator subunit 3 interacting protein 1 Neighboring gene NANOG hESC enhancer GRCh37_chr16:57212532-57213113 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10884 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7524 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr16:57220937-57221581 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_43594 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10885 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7525 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7526 Neighboring gene uncharacterized LOC124903697 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:57292150-57292362 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:57292975-57293530 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10886 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10887 Neighboring gene ARF like GTPase 2 binding protein Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:57295195-57295750 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:57295751-57296304 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr16:57296526-57297296 and GRCh37_chr16:57297297-57298066 Neighboring gene Sharpr-MPRA regulatory region 12895 Neighboring gene plasmolipin Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:57317662-57318323 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7527

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Two sisters with RSPRY1-related spondyloepimetaphyseal dysplasia. Singh S, et al. Am J Med Genet A, 2024 Aug. PMID 38562122, Free PMC Article
    2. Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis. Simsek-Kiper PO, et al. Am J Med Genet A, 2018 Sep. PMID 30063090
    3. 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
    4. MARCH8 Ubiquitinates the Hepatitis C Virus Nonstructural 2 Protein and Mediates Viral Envelopment. Kumar S, et al. Cell Rep, 2019 Feb 12. PMID 30759391, Free PMC Article
    5. Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins. Nagase T, et al. DNA Res, 2001 Dec 31. PMID 11853319

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Two sisters with RSPRY1-related spondyloepimetaphyseal dysplasia.
      Title: Two sisters with RSPRY1-related spondyloepimetaphyseal dysplasia.
    2. we provide further evidence that Spondyloepimetaphyseal dysplasia Faden-Alkuraya type is a RSPRY1-associated skeletal dysplasia with a distinctive phenotype composed of spondyloepimetaphyseal dysplasia, cono-brachydactyly, and craniosynostosis along with recognizable facial features and intellectual disability.
      Title: Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis.
    3. RSPRY1 Mutations are associated with Progressive Skeletal Dysplasia.
      Title: Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA1972

    Gene Ontology Provided by GOA

    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.

    Genomic

    1. NG_046342.1 RefSeqGene

      Range
      5046..59186
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001305163.2 → NP_001292092.1  RING finger and SPRY domain-containing protein 1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001292092.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein (isoform 1).
      Source sequence(s)
      AC009090, AL834402, BC013173
      Consensus CDS
      CCDS10775.1
      UniProtKB/Swiss-Prot
      Q6UX21, Q8ND53, Q96DX4
      UniProtKB/TrEMBL
      B3KNH9
      Related
      ENSP00000443176.1, ENST00000537866.5
      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_001305164.2 → NP_001292093.1  RING finger and SPRY domain-containing protein 1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001292093.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein (isoform 1).
      Source sequence(s)
      AB075852, AC009090, AL834402, BC013173, DB083249
      Consensus CDS
      CCDS10775.1
      UniProtKB/Swiss-Prot
      Q6UX21, Q8ND53, Q96DX4
      UniProtKB/TrEMBL
      B3KNH9
      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

    3. NM_001305182.2 → NP_001292111.1  RING finger and SPRY domain-containing protein 1 isoform 2

      See identical proteins and their annotated locations for NP_001292111.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks multiple exons in the coding region and differs in both the 5' and 3' UTRs, compared to variant 1. The resulting protein (isoform 2) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AY358548, BQ576035, DB083249
      UniProtKB/TrEMBL
      H3BQQ7
      Related
      ENST00000566352.1

    4. NM_133368.3 → NP_588609.1  RING finger and SPRY domain-containing protein 1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_588609.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AC009090, AL834402, BC013173
      Consensus CDS
      CCDS10775.1
      UniProtKB/Swiss-Prot
      Q6UX21, Q8ND53, Q96DX4
      UniProtKB/TrEMBL
      B3KNH9
      Related
      ENSP00000377942.4, ENST00000394420.9
      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_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      57186152..57240469
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024450483.2 → XP_024306251.1  RING finger and SPRY domain-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      B3KNH9
      Conserved Domains (2) summary
      cd12883
      Location:390 → 510
      SPRY_RING; SPRY domain at N-terminus of Really Interesting New Gene (RING) finger domain
      cd16566
      Location:556 → 596
      RING-HC_RSPRY1; RING finger, HC subclass, found in RING finger and SPRY domain-containing protein 1 (RSPRY1) and similar proteins

    2. XM_024450484.2 → XP_024306252.1  RING finger and SPRY domain-containing protein 1 isoform X2

      UniProtKB/Swiss-Prot
      Q6UX21, Q8ND53, Q96DX4
      UniProtKB/TrEMBL
      B3KNH9
      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

    3. XM_047434854.1 → XP_047290810.1  RING finger and SPRY domain-containing protein 1 isoform X1

    4. XM_024450482.2 → XP_024306250.1  RING finger and SPRY domain-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      B3KNH9
      Conserved Domains (2) summary
      cd12883
      Location:390 → 510
      SPRY_RING; SPRY domain at N-terminus of Really Interesting New Gene (RING) finger domain
      cd16566
      Location:556 → 596
      RING-HC_RSPRY1; RING finger, HC subclass, found in RING finger and SPRY domain-containing protein 1 (RSPRY1) and similar proteins

    5. XM_011523428.3 → XP_011521730.1  RING finger and SPRY domain-containing protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011521730.1

      UniProtKB/TrEMBL
      B3KNH9
      Conserved Domains (2) summary
      cd12883
      Location:390 → 510
      SPRY_RING; SPRY domain at N-terminus of Really Interesting New Gene (RING) finger domain
      cd16566
      Location:556 → 596
      RING-HC_RSPRY1; RING finger, HC subclass, found in RING finger and SPRY domain-containing protein 1 (RSPRY1) and similar proteins

    6. XM_005256220.3 → XP_005256277.1  RING finger and SPRY domain-containing protein 1 isoform X2

      See identical proteins and their annotated locations for XP_005256277.1

      UniProtKB/Swiss-Prot
      Q6UX21, Q8ND53, Q96DX4
      UniProtKB/TrEMBL
      B3KNH9
      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

    7. XM_011523427.3 → XP_011521729.1  RING finger and SPRY domain-containing protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011521729.1

      UniProtKB/TrEMBL
      B3KNH9
      Conserved Domains (2) summary
      cd12883
      Location:390 → 510
      SPRY_RING; SPRY domain at N-terminus of Really Interesting New Gene (RING) finger domain
      cd16566
      Location:556 → 596
      RING-HC_RSPRY1; RING finger, HC subclass, found in RING finger and SPRY domain-containing protein 1 (RSPRY1) and similar proteins

    8. XM_047434858.1 → XP_047290814.1  RING finger and SPRY domain-containing protein 1 isoform X3

    9. XM_011523430.2 → XP_011521732.1  RING finger and SPRY domain-containing protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011521732.1

      UniProtKB/TrEMBL
      B3KNH9
      Conserved Domains (2) summary
      cd12883
      Location:390 → 510
      SPRY_RING; SPRY domain at N-terminus of Really Interesting New Gene (RING) finger domain
      cd16566
      Location:556 → 596
      RING-HC_RSPRY1; RING finger, HC subclass, found in RING finger and SPRY domain-containing protein 1 (RSPRY1) and similar proteins

    10. XM_047434855.1 → XP_047290811.1  RING finger and SPRY domain-containing protein 1 isoform X2

      UniProtKB/Swiss-Prot
      Q6UX21, Q8ND53, Q96DX4

    11. XM_047434853.1 → XP_047290809.1  RING finger and SPRY domain-containing protein 1 isoform X1

    12. XM_047434856.1 → XP_047290812.1  RING finger and SPRY domain-containing protein 1 isoform X2

      UniProtKB/Swiss-Prot
      Q6UX21, Q8ND53, Q96DX4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      62982343..63036458
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054314301.1 → XP_054170276.1  RING finger and SPRY domain-containing protein 1 isoform X2

      UniProtKB/Swiss-Prot
      Q6UX21, Q8ND53, Q96DX4

    2. XM_054314296.1 → XP_054170271.1  RING finger and SPRY domain-containing protein 1 isoform X1

    3. XM_054314297.1 → XP_054170272.1  RING finger and SPRY domain-containing protein 1 isoform X1

    4. XM_054314300.1 → XP_054170275.1  RING finger and SPRY domain-containing protein 1 isoform X2

      UniProtKB/Swiss-Prot
      Q6UX21, Q8ND53, Q96DX4

    5. XM_054314293.1 → XP_054170268.1  RING finger and SPRY domain-containing protein 1 isoform X1

    6. XM_054314292.1 → XP_054170267.1  RING finger and SPRY domain-containing protein 1 isoform X1

    7. XM_054314298.1 → XP_054170273.1  RING finger and SPRY domain-containing protein 1 isoform X2

      UniProtKB/Swiss-Prot
      Q6UX21, Q8ND53, Q96DX4

    8. XM_054314291.1 → XP_054170266.1  RING finger and SPRY domain-containing protein 1 isoform X1

    9. XM_054314302.1 → XP_054170277.1  RING finger and SPRY domain-containing protein 1 isoform X3

    10. XM_054314295.1 → XP_054170270.1  RING finger and SPRY domain-containing protein 1 isoform X1

    11. XM_054314299.1 → XP_054170274.1  RING finger and SPRY domain-containing protein 1 isoform X2

      UniProtKB/Swiss-Prot
      Q6UX21, Q8ND53, Q96DX4

    12. XM_054314294.1 → XP_054170269.1  RING finger and SPRY domain-containing protein 1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96DX4.1 GenPept UniProtKB/Swiss-Prot:Q96DX4

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