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BTNL3 butyrophilin like 3 [ Homo sapiens (human) ]

Gene ID: 10917, updated on 2-Nov-2024

Summary

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Official Symbol
BTNL3provided by HGNC
Official Full Name
butyrophilin like 3provided by HGNC
Primary source
HGNC:HGNC:1143
See related
Ensembl:ENSG00000168903 MIM:606192; AllianceGenome:HGNC:1143
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
BTNLR; BTN9.1
Summary
Predicted to enable signaling receptor binding activity. Predicted to be involved in T cell receptor signaling pathway and regulation of cytokine production. Predicted to be located in membrane. Predicted to be active in external side of plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in duodenum (RPKM 59.3), small intestine (RPKM 43.9) and 1 other tissue See more
Orthologs
all
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Genomic context

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See BTNL3 in Genome Data Viewer
Location:
5q35.3
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (180988846..181006727)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (181545217..181563111)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (180415846..180433727)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene TERF2 interacting protein pseudogene Neighboring gene TMEM69 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23774 Neighboring gene ARPP19 pseudogene 1 Neighboring gene RNA, U6 small nuclear 1036, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr5:180463160-180463538 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:180463783-180464709 Neighboring gene butyrophilin like 9 Neighboring gene microRNA 8089

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. Cloning, expression analysis, and chromosomal localization of a novel butyrophilin-like receptor. Shibui A, et al. J Hum Genet, 1999. PMID 10429365
  2. Frameshift mutations of immunomodulatory BTN2A1, BTN2A2, and BTNL3 genes in colon cancers. Kim JW, et al. Pathol Res Pract, 2023 Sep. PMID 37634314
  3. Ancestry and frequency of genetic variants in the general population are confounders in the characterization of germline variants linked to cancer. Bobyn A, et al. BMC Med Genet, 2020 May 6. PMID 32375678, Free PMC Article
  4. Heteromeric interactions regulate butyrophilin (BTN) and BTN-like molecules governing γδ T cell biology. Vantourout P, et al. Proc Natl Acad Sci U S A, 2018 Jan 30. PMID 29339503, Free PMC Article
  5. HSF1 phosphorylation establishes an active chromatin state via the TRRAP-TIP60 complex and promotes tumorigenesis. Fujimoto M, et al. Nat Commun, 2022 Jul 29. PMID 35906200, Free PMC Article

See all (11) 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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables signaling receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in T cell receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in biological_process ND
No biological Data available
more info
  
involved_in regulation of cytokine production IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in cellular_component ND
No biological Data available
more info
  
is_active_in external side of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
butyrophilin-like protein 3
Names
butyrophilin-like receptor

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_197975.3 → NP_932079.1  butyrophilin-like protein 3 precursor

    See identical proteins and their annotated locations for NP_932079.1

    Status: VALIDATED

    Source sequence(s)
    AK025267, AY358385, DA431389
    Consensus CDS
    CCDS47358.1
    UniProtKB/Swiss-Prot
    Q496L7, Q6UXE8, Q9Y2C7
    Related
    ENSP00000341787.6, ENST00000342868.7
    Conserved Domains (2) summary
    cd13733
    Location:289 → 461
    SPRY_PRY_C-I_1; PRY/SPRY domain in tripartite motif-containing (TRIM) proteins, including TRIM5, TRIM6, TRIM7, TRIM10, TRIM11, TRIM17, TRIM20, TRIM21, TRIM27, TRIM35, TRIM38, TRIM41, TRIM50, TRIM58, TRIM60, TRIM62, TRIM69, TRIM72, NF7 and bloodthirsty
    cd05713
    Location:33 → 132
    Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)

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_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    180988846..181006727
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    181545217..181563111
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_006707.2: Suppressed sequence

    Description
    NM_006707.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6UXE8.2 GenPept UniProtKB/Swiss-Prot:Q6UXE8

Gene LinkOut

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

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