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    BTF3L4 basic transcription factor 3 like 4 [ Homo sapiens (human) ]

    Gene ID: 91408, updated on 5-Mar-2024

    Summary

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    Official Symbol
    BTF3L4provided by HGNC
    Official Full Name
    basic transcription factor 3 like 4provided by HGNC
    Primary source
    HGNC:HGNC:30547
    See related
    Ensembl:ENSG00000134717 AllianceGenome:HGNC:30547
    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
    Ubiquitous expression in thyroid (RPKM 12.4), adrenal (RPKM 12.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    1p32.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (52056295..52090716)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (51937800..51972197)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (52521967..52556388)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1030 Neighboring gene thioredoxin domain containing 12 Neighboring gene TXNDC12 antisense RNA 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:52520887-52521291 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:52521457-52522170 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:52522171-52522882 Neighboring gene KTI12 chromatin associated homolog Neighboring gene collagen alpha-2(I) chain-like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 885 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:52613533-52614066 Neighboring gene alcohol dehydrogenase 5 (class III), chi polypeptide pseudogene Neighboring gene RNA, 7SL, cytoplasmic 788, pseudogene Neighboring gene zinc finger FYVE-type containing 9

    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. Quantitative proteomics analysis of chondrogenic differentiation of C3H10T1/2 mesenchymal stem cells by iTRAQ labeling coupled with on-line two-dimensional LC/MS/MS. Ji YH, et al. Mol Cell Proteomics, 2010 Mar. PMID 20008835, Free PMC Article
    2. Dephosphorylation of the transcriptional cofactor NACA by the PP1A phosphatase enhances cJUN transcriptional activity and osteoblast differentiation. Addison WN, et al. J Biol Chem, 2019 May 17. PMID 30948508, Free PMC Article
    3. Notch3 interactome analysis identified WWP2 as a negative regulator of Notch3 signaling in ovarian cancer. Jung JG, et al. PLoS Genet, 2014 Oct. PMID 25356737, Free PMC Article
    4. Genome-Wide CRISPR-Cas9 Screen Reveals Selective Vulnerability of ATRX-Mutant Cancers to WEE1 Inhibition. Liang J, et al. Cancer Res, 2020 Feb 1. PMID 31551363
    5. CHIP ubiquitylates NOXA and induces its lysosomal degradation in response to DNA damage. Albert MC, et al. Cell Death Dis, 2020 Sep 10. PMID 32913203, Free PMC Article

    See all (36) 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

    • MGC23908, MGC88389

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    transcription factor BTF3 homolog 4

    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_001136497.3 → NP_001129969.1  transcription factor BTF3 homolog 4 isoform 2

      See identical proteins and their annotated locations for NP_001129969.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks the exon containing the translation start codon compared to variant (1). The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AK027582, AL139156, BU567198
      Consensus CDS
      CCDS44146.1
      UniProtKB/Swiss-Prot
      Q96K17
      Related
      ENSP00000436712.1, ENST00000472944.6
      Conserved Domains (1) summary
      cd22055
      Location:1 → 62
      NAC_BTF3; basal transcription factor BTF3

    2. NM_001243767.2 → NP_001230696.1  transcription factor BTF3 homolog 4 isoform 3

      See identical proteins and their annotated locations for NP_001230696.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an exon in the coding region, which results in a frameshift, compared to variant 1. The encoded isoform (3) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AL139156, DA369498
      Consensus CDS
      CCDS58001.1
      UniProtKB/Swiss-Prot
      Q96K17
      Related
      ENSP00000434824.1, ENST00000489308.6

    3. NM_152265.5 → NP_689478.1  transcription factor BTF3 homolog 4 isoform 1

      See identical proteins and their annotated locations for NP_689478.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AL139156, BC070378
      Consensus CDS
      CCDS30713.1
      UniProtKB/Swiss-Prot
      B3KNJ1, D3DQ32, G3V1C6, Q96K17
      UniProtKB/TrEMBL
      E9PL10
      Related
      ENSP00000360664.4, ENST00000313334.13
      Conserved Domains (1) summary
      cd22055
      Location:4 → 120
      NAC_BTF3; basal transcription factor BTF3

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      52056295..52090716
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      51937800..51972197
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96K17.1 GenPept UniProtKB/Swiss-Prot:Q96K17

    Gene LinkOut

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

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