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    SPRYD3 SPRY domain containing 3 [ Homo sapiens (human) ]

    Gene ID: 84926, updated on 10-Dec-2024

    Summary

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    Official Symbol
    SPRYD3provided by HGNC
    Official Full Name
    SPRY domain containing 3provided by HGNC
    Primary source
    HGNC:HGNC:25920
    See related
    Ensembl:ENSG00000167778 AllianceGenome:HGNC:25920
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Expression
    Ubiquitous expression in brain (RPKM 58.3), fat (RPKM 38.7) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SPRYD3 in Genome Data Viewer
    Location:
    12q13.13
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (53064316..53079390, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (53028683..53043758, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (53458100..53473174, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6400 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6401 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4490 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:53441165-53442009 Neighboring gene TNS2 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:53442010-53442853 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6402 Neighboring gene tensin 2 Neighboring gene microRNA 6757 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:53459723-53460224 Neighboring gene H3K4me1 hESC enhancers GRCh37_chr12:53465666-53466166 and GRCh37_chr12:53466167-53466667 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4492 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4493 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4494 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:53493256-53493471 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:53496852-53497380 Neighboring gene insulin like growth factor binding protein 6 Neighboring gene uncharacterized LOC124902936 Neighboring gene sterol O-acyltransferase 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. USP11 deubiquitinates RAE1 and plays a key role in bipolar spindle formation. Stockum A, et al. PLoS One, 2018. PMID 29293652, Free PMC Article
    2. Alternative exon skipping biases substrate preference of the deubiquitylase USP15 for mysterin/RNF213, the moyamoya disease susceptibility factor. Kotani Y, et al. Sci Rep, 2017 Mar 9. PMID 28276505, Free PMC Article
    3. FBXW7 modulates cellular stress response and metastatic potential through ​HSF1 post-translational modification. Kourtis N, et al. Nat Cell Biol, 2015 Mar. PMID 25720964, Free PMC Article
    4. Myosin-X recruits lamellipodin to filopodia tips. Popović A, et al. J Cell Sci, 2023 Mar 1. PMID 36861887, Free PMC Article
    5. TRIM21 ameliorates hepatic glucose and lipid metabolic disorders in type 2 diabetes mellitus by ubiquitination of PEPCK1 and FASN. Zhang K, et al. Cell Mol Life Sci, 2023 May 30. PMID 37249651, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ14800

    General protein information

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    Preferred Names
    SPRY domain-containing protein 3
    NP_116229.1

    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_032840.3 → NP_116229.1  SPRY domain-containing protein 3

      See identical proteins and their annotated locations for NP_116229.1

      Status: VALIDATED

      Source sequence(s)
      BC136312, CA427084, DA389433
      Consensus CDS
      CCDS8845.1
      UniProtKB/Swiss-Prot
      B9EG99, Q8NCJ5, Q96SK5
      UniProtKB/TrEMBL
      F8VWW7
      Related
      ENSP00000301463.4, ENST00000301463.9
      Conserved Domains (1) summary
      cd12908
      Location:220 → 438
      SPRYD3; SPRY domain-containing protein 3

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      53064316..53079390 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      53028683..53043758 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NCJ5.2 GenPept UniProtKB/Swiss-Prot:Q8NCJ5

    Gene LinkOut

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

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