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

Gene ID: 54836, updated on 5-Mar-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, Apr 2022]
Expression
Broad expression in thyroid (RPKM 21.8), salivary gland (RPKM 19.5) and 16 other tissues See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (113349541..113371222)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (125548355..125570031)
105.20220307 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)

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

  • 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 protein ubiquitination 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_2023_10

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

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