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

Gene ID: 54836, updated on 11-Jun-2021

Summary

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
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
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

See BSPRY in Genome Data Viewer
Location:
9q32
Exon count:
6
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (113349541..113371233)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (116111821..116133502)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene ring finger protein 183 Neighboring gene WD repeat domain 31 Neighboring gene haloacid dehalogenase like hydrolase domain containing 3 Neighboring gene aminolevulinate dehydratase

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
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
PubMed 
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
PubMed 
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

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_001317943.2NP_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:237406
    SPRY_BSPRY; SPRY domain in Ro-Ret family
  2. NM_001317944.2NP_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:2163
    Bbox_SF; B-box-type zinc finger superfamily
  3. NM_017688.3NP_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
    Q5W0U4
    Related
    ENSP00000363298.4, ENST00000374183.5
    Conserved Domains (1) summary
    cd12904
    Location:232401
    SPRY_BSPRY; SPRY domain in Ro-Ret family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    113349541..113371233
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006717149.3XP_006717212.1  B box and SPRY domain-containing protein isoform X1

    Conserved Domains (1) summary
    cd12904
    Location:231400
    SPRY_BSPRY; SPRY domain in Ro-Ret family
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