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

Gene ID: 89970, updated on 3-Apr-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_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (57186152..57240469)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (62982343..63036458)
105.20220307 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 ADP ribosylation factor 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
  • 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. 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
  2. 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
  3. 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
  4. 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
  5. Activity-based E3 ligase profiling uncovers an E3 ligase with esterification activity. Pao KC, et al. Nature, 2018 Apr. PMID 29643511

See all (27) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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_2023_10

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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