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    BTNL9 butyrophilin like 9 [ Homo sapiens (human) ]

    Gene ID: 153579, updated on 27-Nov-2024

    Summary

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    Official Symbol
    BTNL9provided by HGNC
    Official Full Name
    butyrophilin like 9provided by HGNC
    Primary source
    HGNC:HGNC:24176
    See related
    Ensembl:ENSG00000165810 MIM:620648; AllianceGenome:HGNC:24176
    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
    BTN3; BTN8; VDLS1900
    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 plasma membrane. Predicted to be active in external side of plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in fat (RPKM 71.4), lung (RPKM 16.7) and 4 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See BTNL9 in Genome Data Viewer
    Location:
    5q35.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (181040266..181061521)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (181596648..181622763)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (180467266..180488521)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene butyrophilin like 3 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 ReSE screen-validated silencer GRCh37_chr5:180472882-180473409 Neighboring gene microRNA 8089 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:180480410-180480974 Neighboring gene ribosomal protein L13 pseudogene 10 Neighboring gene tRNA-Val (anticodon CAC) 1-2

    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. A stop-gain variant in BTNL9 is associated with atherogenic lipid profiles. Carlson JC, et al. HGG Adv, 2023 Jan 12. PMID 36340932, Free PMC Article
    2. Butyrophilin-Like 9 (BTNL9) Suppresses Invasion and Correlates with Favorable Prognosis of Uveal Melanoma. Jiang Z, et al. Med Sci Monit, 2019 Apr 30. PMID 31039142, Free PMC Article
    3. LncRNA CALML3-AS1 modulated by m(6)A modification induces BTNL9 methylation to drive non-small-cell lung cancer progression. Zhang H, et al. Cancer Gene Ther, 2023 Dec. PMID 37884580
    4. Integrative omics analysis identifies biomarkers of idiopathic pulmonary fibrosis. Zheng P, et al. Cell Mol Life Sci, 2022 Jan 11. PMID 35015148, Free PMC Article
    5. BTNL9 is frequently downregulated and inhibits proliferation and metastasis via the P53/CDC25C and P53/GADD45 pathways in breast cancer. Mo Q, et al. Biochem Biophys Res Commun, 2021 May 14. PMID 33756341

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. LncRNA CALML3-AS1 modulated by m[6]A modification induces BTNL9 methylation to drive non-small-cell lung cancer progression.
      Title: LncRNA CALML3-AS1 modulated by m(6)A modification induces BTNL9 methylation to drive non-small-cell lung cancer progression.
    2. A stop-gain variant in BTNL9 is associated with atherogenic lipid profiles.
      Title: A stop-gain variant in BTNL9 is associated with atherogenic lipid profiles.
    3. Integrative omics analysis identifies biomarkers of idiopathic pulmonary fibrosis.
      Title: Integrative omics analysis identifies biomarkers of idiopathic pulmonary fibrosis.
    4. BTNL9 is frequently downregulated and inhibits proliferation and metastasis via the P53/CDC25C and P53/GADD45 pathways in breast cancer.
      Title: BTNL9 is frequently downregulated and inhibits proliferation and metastasis via the P53/CDC25C and P53/GADD45 pathways in breast cancer.
    5. Authors investigated the function of BTNL9 in UM proliferation and invasion. BTNL9 mRNAs in adjacent tissues were remarkably higher than in UM tissues. The percentages of BTNL9 low expression and high expression were 56.45% and 43.55%, respectively.
      Title: Butyrophilin-Like 9 (BTNL9) Suppresses Invasion and Correlates with Favorable Prognosis of Uveal Melanoma.
    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)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ99557

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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 regulation of cytokine production IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in external side of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    butyrophilin-like protein 9
    Names
    butyrophilin 3

    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_001308245.2 → NP_001295174.1  butyrophilin-like protein 9 isoform b precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains alternate 3' exon structure, and it thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (b) has a distinct C-terminus and is shorter than isoform a.
      Source sequence(s)
      BC062459, DC379841
      Consensus CDS
      CCDS78104.1
      UniProtKB/Swiss-Prot
      Q6UXG8
      Related
      ENSP00000366037.2, ENST00000376841.6
      Conserved Domains (1) summary
      cd05713
      Location:52 → 151
      Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)

    2. NM_152547.5 → NP_689760.2  butyrophilin-like protein 9 isoform a precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AY358358, BC042112, DC379841
      Consensus CDS
      CCDS4460.2
      UniProtKB/Swiss-Prot
      A6NL42, Q6P660, Q6UXG8, Q96DM5
      Related
      ENSP00000330200.9, ENST00000327705.14
      Conserved Domains (4) summary
      cd05713
      Location:52 → 151
      Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)
      smart00410
      Location:46 → 150
      IG_like; Immunoglobulin like
      cd13733
      Location:329 → 503
      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
      cl21462
      Location:281 → 317
      bZIP; Basic leucine zipper (bZIP) domain of bZIP transcription factors: a DNA-binding and dimerization domain

    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
      181040266..181061521
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024454380.2 → XP_024310148.1  butyrophilin-like protein 9 isoform X1

      UniProtKB/TrEMBL
      A0A1S5UZ21
      Conserved Domains (3) summary
      cd13733
      Location:358 → 532
      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:52 → 151
      Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)
      cl21462
      Location:281 → 317
      bZIP; Basic leucine zipper (bZIP) domain of bZIP transcription factors: a DNA-binding and dimerization domain

    2. XM_006714824.5 → XP_006714887.1  butyrophilin-like protein 9 isoform X4

      Conserved Domains (3) summary
      cd05713
      Location:52 → 151
      Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)
      smart00410
      Location:46 → 150
      IG_like; Immunoglobulin like
      cd13733
      Location:322 → 496
      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

    3. XM_047416816.1 → XP_047272772.1  butyrophilin-like protein 9 isoform X2

    4. XM_006714823.5 → XP_006714886.1  butyrophilin-like protein 9 isoform X3

      Conserved Domains (3) summary
      cd05713
      Location:52 → 151
      Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)
      smart00410
      Location:46 → 150
      IG_like; Immunoglobulin like
      cd13733
      Location:322 → 496
      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

    5. XM_017009113.3 → XP_016864602.1  butyrophilin-like protein 9 isoform X5

    6. XM_011534444.4 → XP_011532746.1  butyrophilin-like protein 9 isoform X7

      UniProtKB/Swiss-Prot
      Q6UXG8
      Conserved Domains (1) summary
      cd05713
      Location:52 → 151
      Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)

    7. XM_017009115.3 → XP_016864604.1  butyrophilin-like protein 9 isoform X8

      Related
      ENSP00000425424.1, ENST00000491209.5

    8. XM_047416817.1 → XP_047272773.1  butyrophilin-like protein 9 isoform X6

    9. XM_047416818.1 → XP_047272774.1  butyrophilin-like protein 9 isoform X6

    10. XM_047416819.1 → XP_047272775.1  butyrophilin-like protein 9 isoform X9

    11. XM_017009117.2 → XP_016864606.1  butyrophilin-like protein 9 isoform X10

      UniProtKB/TrEMBL
      Q8N324

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      181596648..181622763
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054351804.1 → XP_054207779.1  butyrophilin-like protein 9 isoform X1

    2. XM_054351805.1 → XP_054207780.1  butyrophilin-like protein 9 isoform X2

    3. XM_054351807.1 → XP_054207782.1  butyrophilin-like protein 9 isoform X4

    4. XM_054351806.1 → XP_054207781.1  butyrophilin-like protein 9 isoform X3

    5. XM_054351808.1 → XP_054207783.1  butyrophilin-like protein 9 isoform X5

    6. XM_054351811.1 → XP_054207786.1  butyrophilin-like protein 9 isoform X7

    7. XM_054351812.1 → XP_054207787.1  butyrophilin-like protein 9 isoform X8

    8. XM_054351809.1 → XP_054207784.1  butyrophilin-like protein 9 isoform X6

    9. XM_054351810.1 → XP_054207785.1  butyrophilin-like protein 9 isoform X6

    10. XM_054351813.1 → XP_054207788.1  butyrophilin-like protein 9 isoform X9

    11. XM_054351814.1 → XP_054207789.1  butyrophilin-like protein 9 isoform X10

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6UXG8.1 GenPept UniProtKB/Swiss-Prot:Q6UXG8

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