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

Gene ID: 7541, updated on 3-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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Related articles in PubMed

  1. [Transcription factor ZF5 regulates expression of mammalian gene containing GCC-triplet repeats in 5'-regulatory region in human hepatoma HepG2 cells]. Orlov SV, et al. Tsitologiia, 2006. PMID 16805315
  2. ZF5, which is a Kruppel-type transcriptional repressor, requires the zinc finger domain for self-association. Numoto M, et al. Biochem Biophys Res Commun, 1999 Mar 24. PMID 10080939
  3. [Variations of the zinc finger protein 161 gene in Chinese with or without high myopia]. Wang GB, et al. Yi Chuan, 2004 Mar. PMID 15639979
  4. Human zinc finger protein 161, a novel transcriptional activator of the dopamine transporter. Lee KH, et al. Biochem Biophys Res Commun, 2004 Jan 23. PMID 14706637
  5. Expression cloning and intracellular localization of a human ZF5 homologue. Sugiura K, et al. Biochim Biophys Acta, 1997 May 2. PMID 9177479

See all (47) citations in PubMed

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)

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

  • 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 IBA
Inferred from Biological aspect of Ancestor
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 IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of transcription by RNA polymerase II 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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