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    ZBTB14 zinc finger and BTB domain containing 14 [ Homo sapiens (human) ]

    Gene ID: 7541, updated on 14-Nov-2024

    Summary

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    Official Symbol
    ZBTB14provided by HGNC
    Official Full Name
    zinc finger and BTB domain containing 14provided by HGNC
    Primary source
    HGNC:HGNC:12860
    See related
    Ensembl:ENSG00000198081 MIM:602126; AllianceGenome:HGNC:12860
    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
    ZF5; ZFP-5; ZFP161; ZNF478; ZFP-161
    Summary
    Enables DNA-binding transcription factor activity and transcription cis-regulatory region binding activity. Involved in negative regulation of DNA-templated transcription. Located in aggresome; cytosol; and nuclear lumen. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in lymph node (RPKM 9.0), appendix (RPKM 6.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ZBTB14 in Genome Data Viewer
    Location:
    18p11.31
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (5289022..5297053, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (5451292..5459322, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (5289021..5297052, complement)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9260 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13054 Neighboring gene transforming acidic coiled-coil containing protein 3 pseudogene Neighboring gene long intergenic non-protein coding RNA 526 Neighboring gene long intergenic non-protein coding RNA 667 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:5294308-5294995 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:5294996-5295682 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:5296371-5297056 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13056 Neighboring gene uncharacterized LOC107985144 Neighboring gene uncharacterized LOC105371970

    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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ZFP161 acts as a scaffolding protein to facilitate the interaction between RPA and ATR/ATRIP. ZFP161 binds to RPA and ATR/ATRIP through distinct regions and stabilizes the RPA-ATR-ATRIP complex at stalled replication forks. This function of ZFP161 is important to the ATR signaling cascade and genome stability maintenance.
      Title: ZFP161 regulates replication fork stability and maintenance of genomic stability by recruiting the ATR/ATRIP complex.
    2. ZF5 downregulated the activity of 5'-regulatory region of FMR1 gene (acting probably through canonic 5'-GCGCGC3' sites).
      Title: [The role of ZF5 and CGGBP-20 transcription factors in expression regulation of human FMR1 gene responsible for X-fragile syndrome].
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: [Variations of the zinc finger protein 161 gene in Chinese with or without high myopia].
    4. data identify a new class of ZF5 targets, a subset of genes containing GCC-elements in their regulatory regions
      Title: Novel repressor of the human FMR1 gene - identification of p56 human (GCC)(n)-binding protein as a Krüppel-like transcription factor ZF5.
    5. ZNF295 may be involved in the bi-directional control of gene expression in concert with ZFP161
      Title: Novel human BTB/POZ domain-containing zinc finger protein ZNF295 is directly associated with ZFP161.
    6. GCC-elements are a novel class of ZF5 targets in 5'-regulatory regions of mammalian genes
      Title: [Transcription factor ZF5 regulates expression of mammalian gene containing GCC-triplet repeats in 5'-regulatory region in human hepatoma HepG2 cells].
    7. transfection of ZFP161 induced dopamine transporter mRNA expression
      Title: Human zinc finger protein 161, a novel transcriptional activator of the dopamine transporter.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC126126

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables DNA-binding transcription repressor 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
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables transcription cis-regulatory region binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cardiac septum development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in coronary vasculature development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in heart valve development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in kidney development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of DNA-templated transcription IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of cytokine production IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of immune system process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in aggresome IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    zinc finger and BTB domain-containing protein 14
    Names
    ZFP161 zinc finger protein
    zinc finger protein 161 homolog
    zinc finger protein 478
    zinc finger protein 5 homolog
    zinc finger protein homologous to Zfp161 in mouse

    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_001143823.3 → NP_001137295.1  zinc finger and BTB domain-containing protein 14

      See identical proteins and their annotated locations for NP_001137295.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2, 3 and 4 encode the same protein.
      Source sequence(s)
      AP001496, AW338628, BC057282
      Consensus CDS
      CCDS11837.1
      UniProtKB/Swiss-Prot
      O00403, O43829, Q2TB80
      UniProtKB/TrEMBL
      B2R850
      Related
      ENSP00000349503.4, ENST00000357006.8
      Conserved Domains (4) summary
      COG5189
      Location:303 → 383
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:307 → 327
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cd18204
      Location:18 → 131
      BTB_POZ_ZBTB14; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in zinc finger and BTB domain-containing protein 14 (ZBTB14)
      pfam13465
      Location:319 → 344
      zf-H2C2_2; Zinc-finger double domain

    2. NM_001243702.2 → NP_001230631.1  zinc finger and BTB domain-containing protein 14

      See identical proteins and their annotated locations for NP_001230631.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3 and 4 encode the same protein.
      Source sequence(s)
      AP001496, AW338628, BI561601
      Consensus CDS
      CCDS11837.1
      UniProtKB/Swiss-Prot
      O00403, O43829, Q2TB80
      UniProtKB/TrEMBL
      B2R850
      Related
      ENSP00000499212.1, ENST00000651870.1
      Conserved Domains (4) summary
      COG5189
      Location:303 → 383
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:307 → 327
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cd18204
      Location:18 → 131
      BTB_POZ_ZBTB14; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in zinc finger and BTB domain-containing protein 14 (ZBTB14)
      pfam13465
      Location:319 → 344
      zf-H2C2_2; Zinc-finger double domain

    3. NM_001243704.2 → NP_001230633.1  zinc finger and BTB domain-containing protein 14

      See identical proteins and their annotated locations for NP_001230633.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3 and 4 encode the same protein.
      Source sequence(s)
      AP001496, AW338628, DB442630
      Consensus CDS
      CCDS11837.1
      UniProtKB/Swiss-Prot
      O00403, O43829, Q2TB80
      UniProtKB/TrEMBL
      B2R850
      Related
      ENSP00000484129.1, ENST00000614697.4
      Conserved Domains (4) summary
      COG5189
      Location:303 → 383
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:307 → 327
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cd18204
      Location:18 → 131
      BTB_POZ_ZBTB14; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in zinc finger and BTB domain-containing protein 14 (ZBTB14)
      pfam13465
      Location:319 → 344
      zf-H2C2_2; Zinc-finger double domain

    4. NM_003409.5 → NP_003400.2  zinc finger and BTB domain-containing protein 14

      See identical proteins and their annotated locations for NP_003400.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3 and 4 encode the same protein.
      Source sequence(s)
      AK313236, AP001496, AW338628
      Consensus CDS
      CCDS11837.1
      UniProtKB/Swiss-Prot
      O00403, O43829, Q2TB80
      UniProtKB/TrEMBL
      B2R850
      Related
      ENSP00000383009.3, ENST00000400143.7
      Conserved Domains (4) summary
      COG5189
      Location:303 → 383
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:307 → 327
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cd18204
      Location:18 → 131
      BTB_POZ_ZBTB14; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in zinc finger and BTB domain-containing protein 14 (ZBTB14)
      pfam13465
      Location:319 → 344
      zf-H2C2_2; Zinc-finger double 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_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      5289022..5297053 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024451266.2 → XP_024307034.1  zinc finger and BTB domain-containing protein 14 isoform X1

      UniProtKB/Swiss-Prot
      O00403, O43829, Q2TB80
      UniProtKB/TrEMBL
      B2R850
      Conserved Domains (4) summary
      COG5189
      Location:303 → 383
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:307 → 327
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cd18204
      Location:18 → 131
      BTB_POZ_ZBTB14; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in zinc finger and BTB domain-containing protein 14 (ZBTB14)
      pfam13465
      Location:319 → 344
      zf-H2C2_2; Zinc-finger double domain

    2. XM_024451262.2 → XP_024307030.1  zinc finger and BTB domain-containing protein 14 isoform X1

      UniProtKB/Swiss-Prot
      O00403, O43829, Q2TB80
      UniProtKB/TrEMBL
      B2R850
      Conserved Domains (4) summary
      COG5189
      Location:303 → 383
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:307 → 327
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cd18204
      Location:18 → 131
      BTB_POZ_ZBTB14; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in zinc finger and BTB domain-containing protein 14 (ZBTB14)
      pfam13465
      Location:319 → 344
      zf-H2C2_2; Zinc-finger double domain

    3. XM_024451261.2 → XP_024307029.1  zinc finger and BTB domain-containing protein 14 isoform X1

      UniProtKB/Swiss-Prot
      O00403, O43829, Q2TB80
      UniProtKB/TrEMBL
      B2R850
      Conserved Domains (4) summary
      COG5189
      Location:303 → 383
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:307 → 327
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cd18204
      Location:18 → 131
      BTB_POZ_ZBTB14; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in zinc finger and BTB domain-containing protein 14 (ZBTB14)
      pfam13465
      Location:319 → 344
      zf-H2C2_2; Zinc-finger double domain

    4. XM_024451264.2 → XP_024307032.1  zinc finger and BTB domain-containing protein 14 isoform X1

      UniProtKB/Swiss-Prot
      O00403, O43829, Q2TB80
      UniProtKB/TrEMBL
      B2R850
      Conserved Domains (4) summary
      COG5189
      Location:303 → 383
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:307 → 327
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cd18204
      Location:18 → 131
      BTB_POZ_ZBTB14; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in zinc finger and BTB domain-containing protein 14 (ZBTB14)
      pfam13465
      Location:319 → 344
      zf-H2C2_2; Zinc-finger double domain

    5. XM_024451265.2 → XP_024307033.1  zinc finger and BTB domain-containing protein 14 isoform X1

      UniProtKB/Swiss-Prot
      O00403, O43829, Q2TB80
      UniProtKB/TrEMBL
      B2R850
      Conserved Domains (4) summary
      COG5189
      Location:303 → 383
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:307 → 327
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cd18204
      Location:18 → 131
      BTB_POZ_ZBTB14; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in zinc finger and BTB domain-containing protein 14 (ZBTB14)
      pfam13465
      Location:319 → 344
      zf-H2C2_2; Zinc-finger double domain

    6. XM_024451263.2 → XP_024307031.1  zinc finger and BTB domain-containing protein 14 isoform X1

      UniProtKB/Swiss-Prot
      O00403, O43829, Q2TB80
      UniProtKB/TrEMBL
      B2R850
      Conserved Domains (4) summary
      COG5189
      Location:303 → 383
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:307 → 327
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cd18204
      Location:18 → 131
      BTB_POZ_ZBTB14; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in zinc finger and BTB domain-containing protein 14 (ZBTB14)
      pfam13465
      Location:319 → 344
      zf-H2C2_2; Zinc-finger double domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      5451292..5459322 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054319091.1 → XP_054175066.1  zinc finger and BTB domain-containing protein 14 isoform X1

      UniProtKB/Swiss-Prot
      O00403, O43829, Q2TB80

    2. XM_054319089.1 → XP_054175064.1  zinc finger and BTB domain-containing protein 14 isoform X1

      UniProtKB/Swiss-Prot
      O00403, O43829, Q2TB80

    3. XM_054319088.1 → XP_054175063.1  zinc finger and BTB domain-containing protein 14 isoform X1

      UniProtKB/Swiss-Prot
      O00403, O43829, Q2TB80

    4. XM_054319090.1 → XP_054175065.1  zinc finger and BTB domain-containing protein 14 isoform X1

      UniProtKB/Swiss-Prot
      O00403, O43829, Q2TB80

    5. XM_054319092.1 → XP_054175067.1  zinc finger and BTB domain-containing protein 14 isoform X1

      UniProtKB/Swiss-Prot
      O00403, O43829, Q2TB80

    6. XM_054319087.1 → XP_054175062.1  zinc finger and BTB domain-containing protein 14 isoform X1

      UniProtKB/Swiss-Prot
      O00403, O43829, Q2TB80
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O43829.2 GenPept UniProtKB/Swiss-Prot:O43829

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