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    BSPRY B-box and SPRY domain containing [ Homo sapiens (human) ]

    Gene ID: 54836, updated on 27-Nov-2024

    Summary

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    Official Symbol
    BSPRYprovided by HGNC
    Official Full Name
    B-box and SPRY domain containingprovided by HGNC
    Primary source
    HGNC:HGNC:18232
    See related
    Ensembl:ENSG00000119411 MIM:619683; AllianceGenome:HGNC:18232
    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
    Summary
    Predicted to enable ubiquitin protein ligase activity. Predicted to be involved in protein ubiquitination. Predicted to act upstream of or within cellular response to leukemia inhibitory factor. Predicted to be located in cell leading edge; membrane; and perinuclear region of cytoplasm. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in thyroid (RPKM 21.8), salivary gland (RPKM 19.5) and 16 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See BSPRY in Genome Data Viewer
    Location:
    9q32
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (113349541..113371222)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (125548355..125570031)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (116111821..116133502)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_106329 Neighboring gene ring finger protein 183 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_106330 Neighboring gene WD repeat domain 31 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20198 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20199 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20200 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20201 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:116131698-116132198 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:116132199-116132699 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20202 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28837 Neighboring gene haloacid dehalogenase like hydrolase domain containing 3 Neighboring gene aminolevulinate dehydratase Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:116162720-116163300 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20203 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20204

    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. Searching for genes for cleft lip and/or palate based on breakpoint analysis of a balanced translocation t(9;17)(q32;q12). Machida J, et al. Cleft Palate Craniofac J, 2009 Sep. PMID 19929093, Free PMC Article
    2. BSPRY, a novel protein of the Ro-Ret family. Schenker T, et al. Biochim Biophys Acta, 2000 Sep 7. PMID 10978534
    3. Characterization of zetin 1/rBSPRY, a novel binding partner of 14-3-3 proteins. Birkenfeld J, et al. Biochem Biophys Res Commun, 2003 Mar 14. PMID 12615066
    4. Interaction of the type IIa Na/Pi cotransporter with PDZ proteins. Gisler SM, et al. J Biol Chem, 2001 Mar 23. PMID 11099500
    5. DNA sequence and analysis of human chromosome 9. Humphray SJ, et al. Nature, 2004 May 27. PMID 15164053, Free PMC Article

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Searching for genes for cleft lip and/or palate based on breakpoint analysis of a balanced translocation t(9;17)(q32;q12).
    2. Expression analysis of the rat BSPRY ortholog and demonstration of its interaction with 14-3-3 proteins.
      Title: Characterization of zetin 1/rBSPRY, a novel binding partner of 14-3-3 proteins.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ20150

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ubiquitin protein ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in calcium ion transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cellular response to leukemia inhibitory factor IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in innate immune response IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cell leading edge IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    B box and SPRY domain-containing protein
    Names
    B-box and SPRY-domain containing protein
    zetin 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_001317943.2 → NP_001304872.1  B box and SPRY domain-containing protein isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AK092607, AL137066, BC001477, BP370567
      UniProtKB/Swiss-Prot
      Q5W0U4
      Conserved Domains (1) summary
      cd12904
      Location:237 → 406
      SPRY_BSPRY; SPRY domain in Ro-Ret family

    2. NM_001317944.2 → NP_001304873.1  B box and SPRY domain-containing protein isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the coding region and lacks an alternate exon in the 3' coding region, compared to variant 1. It encodes isoform 3 which is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AL137066, BC001477, BX462607
      UniProtKB/Swiss-Prot
      Q5W0U4
      Related
      ENST00000462085.1
      Conserved Domains (1) summary
      cl00034
      Location:21 → 63
      Bbox_SF; B-box-type zinc finger superfamily

    3. NM_017688.3 → NP_060158.2  B box and SPRY domain-containing protein isoform 2

      See identical proteins and their annotated locations for NP_060158.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the coding region, compared to variant 1. It encodes isoform 2 which is shorter than isoform 1.
      Source sequence(s)
      AK092607, EL954585
      Consensus CDS
      CCDS43868.1
      UniProtKB/Swiss-Prot
      B3KS19, Q5W0U4, Q96DJ2, Q9H4E4, Q9NXN0
      Related
      ENSP00000363298.4, ENST00000374183.5
      Conserved Domains (1) summary
      cd12904
      Location:232 → 401
      SPRY_BSPRY; SPRY domain in Ro-Ret family

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      113349541..113371222
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006717149.4 → XP_006717212.1  B box and SPRY domain-containing protein isoform X1

      Conserved Domains (1) summary
      cd12904
      Location:231 → 400
      SPRY_BSPRY; SPRY domain in Ro-Ret family

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      125548355..125570031
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054363133.1 → XP_054219108.1  B box and SPRY domain-containing protein isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5W0U4.1 GenPept UniProtKB/Swiss-Prot:Q5W0U4

    Gene LinkOut

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

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