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    BRICD5 BRICHOS domain containing 5 [ Homo sapiens (human) ]

    Gene ID: 283870, updated on 28-Oct-2024

    Summary

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    Official Symbol
    BRICD5provided by HGNC
    Official Full Name
    BRICHOS domain containing 5provided by HGNC
    Primary source
    HGNC:HGNC:28309
    See related
    Ensembl:ENSG00000182685 AllianceGenome:HGNC:28309
    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
    Also known as
    C16orf79
    Summary
    Predicted to be involved in regulation of cell population proliferation. Predicted to be located in membrane. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in testis (RPKM 5.8), brain (RPKM 5.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See BRICD5 in Genome Data Viewer
    Location:
    16p13.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (2209253..2210863, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (2231710..2233320, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (2259254..2260864, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10255 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7033 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10256 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:2206391-2206972 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2206973-2207556 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:2207557-2208138 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:2209305-2209887 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:2209888-2210469 Neighboring gene small nucleolar RNA, C/D box 60 Neighboring gene small nucleolar RNA host gene 19 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2212971-2213472 Neighboring gene TNF receptor associated factor 7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2213473-2213972 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:2214382-2215155 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:2215156-2215928 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2227829-2228330 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2232465-2232965 Neighboring gene CASK interacting protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2239116-2239884 Neighboring gene MPRA-validated peak2469 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:2254430-2255270 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7034 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:2256110-2256949 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2256950-2257788 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:2260119-2260309 Neighboring gene H3K4me1 hESC enhancers GRCh37_chr16:2261749-2262562 and GRCh37_chr16:2262563-2263376 Neighboring gene MTOR associated protein, LST8 homolog Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10258 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7035 Neighboring gene Sharpr-MPRA regulatory region 5944 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:2269932-2270556 Neighboring gene phosphoglycolate phosphatase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7037 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10259 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7038 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10260 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2275282-2275782 Neighboring gene E4F transcription factor 1

    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 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. Systematic identification of pathological lamin A interactors. Dittmer TA, et al. Mol Biol Cell, 2014 May. PMID 24623722, Free PMC Article
    2. SUMOylation of DDX39A Alters Binding and Export of Antiviral Transcripts to Control Innate Immunity. Shi P, et al. J Immunol, 2020 Jul 1. PMID 32393512
    3. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Lamesch P, et al. Genomics, 2007 Mar. PMID 17207965, Free PMC Article
    4. A proteome-scale map of the human interactome network. Rolland T, et al. Cell, 2014 Nov 20. PMID 25416956, Free PMC Article
    5. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article

    See all (8) 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)

    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

    • MGC21830

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in regulation of cell population proliferation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    BRICHOS domain-containing protein 5
    Names
    BRICHOS domain-containing protein C16orf79

    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_182563.4 → NP_872369.2  BRICHOS domain-containing protein 5

      Status: VALIDATED

      Source sequence(s)
      AC009065
      Consensus CDS
      CCDS10463.1
      UniProtKB/Swiss-Prot
      Q6PL45
      Related
      ENSP00000332389.3, ENST00000328540.8
      Conserved Domains (1) summary
      smart01039
      Location:98 → 193
      BRICHOS; The BRICHOS domain is found in a variety of proteins implicated in dementia, respiratory distress and cancer

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      2209253..2210863 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047433958.1 → XP_047289914.1  BRICHOS domain-containing protein 5 isoform X1

      UniProtKB/Swiss-Prot
      C9J7K2, Q6PL45, Q8IXU9
      Related
      ENSP00000455052.1, ENST00000562360.5

    2. XM_047433959.1 → XP_047289915.1  BRICHOS domain-containing protein 5 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      2231710..2233320 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054380113.1 → XP_054236088.1  BRICHOS domain-containing protein 5 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6PL45.3 GenPept UniProtKB/Swiss-Prot:Q6PL45

    Gene LinkOut

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

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