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

Gene ID: 283870, updated on 5-Mar-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 integral component of membrane. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 5.8), brain (RPKM 5.2) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
16p13.3
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (2209253..2210863, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (2231710..2233320, complement)
105.20220307 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
  • 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_2023_10

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

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