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

Gene ID: 360023, updated on 5-Mar-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, Apr 2022]
Expression
Ubiquitous expression in thyroid (RPKM 4.8), brain (RPKM 3.7) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
1q31.3
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (197153682..197201293, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (196415506..196463137, complement)
105.20220307 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
  • 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 (15) 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_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
    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

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