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    ZBTB41 zinc finger and BTB domain containing 41 [ Homo sapiens (human) ]

    Gene ID: 360023, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ZBTB41provided by HGNC
    Official Full Name
    zinc finger and BTB domain containing 41provided by HGNC
    Primary source
    HGNC:HGNC:24819
    See related
    Ensembl:ENSG00000177888 AllianceGenome:HGNC:24819
    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
    FRBZ1; ZNF924
    Summary
    Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 4.8), brain (RPKM 3.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ZBTB41 in Genome Data Viewer
    Location:
    1q31.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (197153682..197201293, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (196415506..196463137, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (197122812..197170423, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:197037498-197038697 Neighboring gene MPRA-validated peak640 silencer Neighboring gene coagulation factor XIII B chain Neighboring gene assembly factor for spindle microtubules Neighboring gene septin 14 pseudogene 12 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1659 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:197170170-197170755 Neighboring gene ATPase H+ transporting accessory protein 2 pseudogene Neighboring gene crumbs cell polarity complex component 1 Neighboring gene uncharacterized LOC124904477

    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. Ischemic stroke is associated with the ABO locus: the EuroCLOT study. Williams FM, et al. Ann Neurol, 2013 Jan. PMID 23381943, Free PMC Article
    2. Lupus nephritis susceptibility loci in women with systemic lupus erythematosus. Chung SA, et al. J Am Soc Nephrol, 2014 Dec. PMID 24925725, Free PMC Article
    3. Shotgun sequencing of the human transcriptome with ORF expressed sequence tags. Dias Neto E, et al. Proc Natl Acad Sci U S A, 2000 Mar 28. PMID 10737800, Free PMC Article
    4. E3 ubiquitin ligase RNF123 targets lamin B1 and lamin-binding proteins. Khanna R, et al. FEBS J, 2018 Jun. PMID 29676528
    5. Transcriptome analysis of human gastric cancer. Oh JH, et al. Mamm Genome, 2005 Dec. PMID 16341674

    See all (17) 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

    EBI GWAS Catalog

    Description
    Ischemic stroke is associated with the ABO locus: the EuroCLOT study.
    EBI GWAS Catalog
    Lupus nephritis susceptibility Loci in women with systemic lupus erythematosus.
    EBI GWAS Catalog

    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

    • FLJ36199, DKFZp686C06120

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    zinc finger and BTB domain-containing protein 41
    Names
    FRBZ1 protein (FRBZ1)

    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_194314.3 → NP_919290.2  zinc finger and BTB domain-containing protein 41

      See identical proteins and their annotated locations for NP_919290.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the supported protein.
      Source sequence(s)
      AL356315, AL627208
      Consensus CDS
      CCDS30960.1
      UniProtKB/Swiss-Prot
      A2RUA8, Q5SVQ8, Q6MZT8, Q6ZR25, Q7Z4T1, Q8IZ99
      Related
      ENSP00000356375.3, ENST00000367405.5
      Conserved Domains (3) summary
      sd00017
      Location:577 → 597
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cd18226
      Location:66 → 179
      BTB_POZ_ZBTB41; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in zinc finger and BTB domain-containing protein 41 (ZBTB41)
      pfam00096
      Location:603 → 625
      zf-C2H2; Zinc finger, C2H2 type

    RNA

    1. NR_135153.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL356315, AL627208

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      197153682..197201293 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047419671.1 → XP_047275627.1  zinc finger and BTB domain-containing protein 41 isoform X1

      UniProtKB/Swiss-Prot
      A2RUA8, Q5SVQ8, Q6MZT8, Q6ZR25, Q7Z4T1, Q8IZ99

    2. XM_011509507.4 → XP_011507809.1  zinc finger and BTB domain-containing protein 41 isoform X2

      Conserved Domains (4) summary
      smart00225
      Location:89 → 173
      BTB; Broad-Complex, Tramtrack and Bric a brac
      sd00017
      Location:577 → 597
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00651
      Location:77 → 173
      BTB; BTB/POZ domain
      pfam13465
      Location:562 → 586
      zf-H2C2_2; Zinc-finger double domain

    3. XM_017001205.3 → XP_016856694.1  zinc finger and BTB domain-containing protein 41 isoform X3

      UniProtKB/Swiss-Prot
      Q5SVQ8
      Related
      ENSP00000502173.1, ENST00000467322.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      196415506..196463137 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054336412.1 → XP_054192387.1  zinc finger and BTB domain-containing protein 41 isoform X1

      UniProtKB/Swiss-Prot
      A2RUA8, Q5SVQ8, Q6MZT8, Q6ZR25, Q7Z4T1, Q8IZ99

    2. XM_054336413.1 → XP_054192388.1  zinc finger and BTB domain-containing protein 41 isoform X2

    3. XM_054336414.1 → XP_054192389.1  zinc finger and BTB domain-containing protein 41 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5SVQ8.1 GenPept UniProtKB/Swiss-Prot:Q5SVQ8

    Gene LinkOut

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

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