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ZNF43 zinc finger protein 43 [ Homo sapiens (human) ]

Gene ID: 7594, updated on 5-Mar-2024

Summary

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Official Symbol
ZNF43provided by HGNC
Official Full Name
zinc finger protein 43provided by HGNC
Primary source
HGNC:HGNC:13109
See related
Ensembl:ENSG00000198521 MIM:603972; AllianceGenome:HGNC:13109
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
HTF6; KOX27; ZNF39L1
Summary
This gene belongs to the C2H2-type zinc finger gene family. The zinc finger proteins are involved in gene regulation and development, and are quite conserved throughout evolution. Like this gene product, a third of the zinc finger proteins containing C2H2 fingers also contain the KRAB domain, which has been found to be involved in protein-protein interactions. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in thyroid (RPKM 1.7), ovary (RPKM 1.6) and 24 other tissues See more
Orthologs
all
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Genomic context

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See ZNF43 in Genome Data Viewer
Location:
19p12
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (21804946..21852065, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (21943416..21990533, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (21987748..22034867, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene zinc finger protein 100 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:21933229-21933730 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:21933731-21934230 Neighboring gene cyclin Y like 6 (pseudogene) Neighboring gene ReSE screen-validated silencer GRCh37_chr19:21950368-21950545 Neighboring gene BRI3 binding protein pseudogene 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:22018075-22019048 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:22019049-22020021 Neighboring gene BCL2 interacting protein 3 pseudogene 27 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:22040519-22041019 Neighboring gene uncharacterized LOC105372324 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:22045378-22046339 Neighboring gene uncharacterized LOC105372326

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. A gene encoding 22 highly related zinc fingers is expressed in lymphoid cell lines. Lovering R, et al. Nucleic Acids Res, 1991 Jun 11. PMID 1711675, Free PMC Article
  2. Endocytic Ark/Prk kinases play a critical role in adriamycin resistance in both yeast and mammalian cells. Takahashi T, et al. Cancer Res, 2006 Dec 15. PMID 17178891
  3. The evolutionarily conserved Krüppel-associated box domain defines a subfamily of eukaryotic multifingered proteins. Bellefroid EJ, et al. Proc Natl Acad Sci U S A, 1991 May 1. PMID 2023909, Free PMC Article
  4. Twenty-seven nonoverlapping zinc finger cDNAs from human T cells map to nine different chromosomes with apparent clustering. Huebner K, et al. Am J Hum Genet, 1991 Apr. PMID 2014798, Free PMC Article
  5. Clustered organization of homologous KRAB zinc-finger genes with enhanced expression in human T lymphoid cells. Bellefroid EJ, et al. EMBO J, 1993 Apr. PMID 8467795, Free PMC Article

See all (17) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Human embryo kidney cells that overexpressed AAK1 are adriamycin resistant
    Title: Endocytic Ark/Prk kinases play a critical role in adriamycin resistance in both yeast and mammalian cells.
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

  • DKFZp686L1854

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding TAS
Traceable Author Statement
more info
 PubMed 
enables DNA-binding transcription activator 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 positive 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
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
zinc finger protein 43
Names
zinc finger protein 39-like 1 (KOX 27)
zinc finger protein HTF6
zinc finger protein KOX27

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_001256648.2 → NP_001243577.1  zinc finger protein 43 isoform 1

    See identical proteins and their annotated locations for NP_001243577.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same isoform (1).
    Source sequence(s)
    AC010617, AC092364, DA784080
    Consensus CDS
    CCDS59367.1
    Related
    ENSP00000469645.1, ENST00000595461.5
    Conserved Domains (6) summary
    smart00349
    Location:2 → 57
    KRAB; krueppel associated box
    COG5048
    Location:280 → 748
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:506 → 526
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00019
    Location:143 → 162
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam01352
    Location:2 → 37
    KRAB; KRAB box
    pfam13465
    Location:547 → 571
    zf-H2C2_2; Zinc-finger double domain

  2. NM_001256649.2 → NP_001243578.1  zinc finger protein 43 isoform 1

    See identical proteins and their annotated locations for NP_001243578.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same isoform (1).
    Source sequence(s)
    AC092364, AK291353, DA784080
    Consensus CDS
    CCDS59367.1
    Related
    ENSP00000469578.1, ENST00000594012.5
    Conserved Domains (6) summary
    smart00349
    Location:2 → 57
    KRAB; krueppel associated box
    COG5048
    Location:280 → 748
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:506 → 526
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00019
    Location:143 → 162
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam01352
    Location:2 → 37
    KRAB; KRAB box
    pfam13465
    Location:547 → 571
    zf-H2C2_2; Zinc-finger double domain

  3. NM_001256650.2 → NP_001243579.1  zinc finger protein 43 isoform 1

    See identical proteins and their annotated locations for NP_001243579.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same isoform (1).
    Source sequence(s)
    AC010617, AC092364, DA784080, X59244
    Consensus CDS
    CCDS59367.1
    Related
    ENSP00000470275.1, ENST00000598381.5
    Conserved Domains (6) summary
    smart00349
    Location:2 → 57
    KRAB; krueppel associated box
    COG5048
    Location:280 → 748
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:506 → 526
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00019
    Location:143 → 162
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam01352
    Location:2 → 37
    KRAB; KRAB box
    pfam13465
    Location:547 → 571
    zf-H2C2_2; Zinc-finger double domain

  4. NM_001256651.2 → NP_001243580.1  zinc finger protein 43 isoform 4

    See identical proteins and their annotated locations for NP_001243580.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR, lacks an exon in the 5' coding region and initiates translation at a downstream, in-frame start codon, compared to variant 1. Variants 6 and 7 encode the same isoform (4), which has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AC010617, AC092364, DA784080, DB446440
    Conserved Domains (4) summary
    COG5048
    Location:221 → 689
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:447 → 467
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00019
    Location:84 → 103
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:488 → 512
    zf-H2C2_2; Zinc-finger double domain

  5. NM_001256653.2 → NP_001243582.1  zinc finger protein 43 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and initiates translation at an upstream start codon, compared to variant 1. The encoded isoform (3) is longer and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AC010617, AC092364, DA784080, DR002502
    Consensus CDS
    CCDS74321.1
    UniProtKB/TrEMBL
    A0A087WSW2
    Related
    ENSP00000350085.7, ENST00000357491.10
    Conserved Domains (6) summary
    smart00349
    Location:13 → 72
    KRAB; krueppel associated box
    COG5048
    Location:295 → 763
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:521 → 541
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00019
    Location:158 → 177
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam01352
    Location:13 → 52
    KRAB; KRAB box
    pfam13465
    Location:562 → 586
    zf-H2C2_2; Zinc-finger double domain

  6. NM_001256654.2 → NP_001243583.1  zinc finger protein 43 isoform 4

    See identical proteins and their annotated locations for NP_001243583.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7) differs in the 5' UTR, lacks an exon in the 5' coding region and initiates translation at a downstream, in-frame start codon, compared to variant 1. Variants 6 and 7 encode the same isoform (4), which has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AC010617, AC092364, DB158705
    Conserved Domains (4) summary
    COG5048
    Location:221 → 689
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:447 → 467
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00019
    Location:84 → 103
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:488 → 512
    zf-H2C2_2; Zinc-finger double domain

  7. NM_003423.4 → NP_003414.2  zinc finger protein 43 isoform 2

    See identical proteins and their annotated locations for NP_003414.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) is longer and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AC092364, BC006528, BX471947
    Consensus CDS
    CCDS12413.2
    UniProtKB/Swiss-Prot
    A8K5N8, P17038, P28160, Q53XQ2, Q5H9T3, Q96DG1
    Related
    ENSP00000347045.4, ENST00000354959.9
    Conserved Domains (6) summary
    smart00349
    Location:4 → 63
    KRAB; krueppel associated box
    COG5048
    Location:286 → 754
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:512 → 532
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00019
    Location:149 → 168
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam01352
    Location:4 → 43
    KRAB; KRAB box
    pfam13465
    Location:553 → 577
    zf-H2C2_2; Zinc-finger double domain

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_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    21804946..21852065 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017027211.3 → XP_016882700.1  zinc finger protein 43 isoform X1

    Conserved Domains (6) summary
    smart00349
    Location:2 → 57
    KRAB; krueppel associated box
    COG5048
    Location:280 → 748
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:506 → 526
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00019
    Location:143 → 162
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam01352
    Location:2 → 37
    KRAB; KRAB box
    pfam13465
    Location:547 → 571
    zf-H2C2_2; Zinc-finger double domain

  2. XM_017027209.3 → XP_016882698.1  zinc finger protein 43 isoform X1

    Conserved Domains (6) summary
    smart00349
    Location:2 → 57
    KRAB; krueppel associated box
    COG5048
    Location:280 → 748
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:506 → 526
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00019
    Location:143 → 162
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam01352
    Location:2 → 37
    KRAB; KRAB box
    pfam13465
    Location:547 → 571
    zf-H2C2_2; Zinc-finger double domain

  3. XM_017027213.3 → XP_016882702.1  zinc finger protein 43 isoform X1

    Conserved Domains (6) summary
    smart00349
    Location:2 → 57
    KRAB; krueppel associated box
    COG5048
    Location:280 → 748
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:506 → 526
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00019
    Location:143 → 162
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam01352
    Location:2 → 37
    KRAB; KRAB box
    pfam13465
    Location:547 → 571
    zf-H2C2_2; Zinc-finger double domain

  4. XM_017027214.3 → XP_016882703.1  zinc finger protein 43 isoform X1

    Conserved Domains (6) summary
    smart00349
    Location:2 → 57
    KRAB; krueppel associated box
    COG5048
    Location:280 → 748
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:506 → 526
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00019
    Location:143 → 162
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam01352
    Location:2 → 37
    KRAB; KRAB box
    pfam13465
    Location:547 → 571
    zf-H2C2_2; Zinc-finger double domain

  5. XM_047439316.1 → XP_047295272.1  zinc finger protein 43 isoform X1

  6. XM_017027212.3 → XP_016882701.1  zinc finger protein 43 isoform X1

    Conserved Domains (6) summary
    smart00349
    Location:2 → 57
    KRAB; krueppel associated box
    COG5048
    Location:280 → 748
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:506 → 526
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00019
    Location:143 → 162
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam01352
    Location:2 → 37
    KRAB; KRAB box
    pfam13465
    Location:547 → 571
    zf-H2C2_2; Zinc-finger double domain

  7. XM_017027208.3 → XP_016882697.1  zinc finger protein 43 isoform X1

    Conserved Domains (6) summary
    smart00349
    Location:2 → 57
    KRAB; krueppel associated box
    COG5048
    Location:280 → 748
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:506 → 526
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00019
    Location:143 → 162
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam01352
    Location:2 → 37
    KRAB; KRAB box
    pfam13465
    Location:547 → 571
    zf-H2C2_2; Zinc-finger double domain

  8. XM_047439314.1 → XP_047295270.1  zinc finger protein 43 isoform X1

  9. XM_017027207.3 → XP_016882696.1  zinc finger protein 43 isoform X1

    Conserved Domains (6) summary
    smart00349
    Location:2 → 57
    KRAB; krueppel associated box
    COG5048
    Location:280 → 748
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:506 → 526
    ZF_C2H2; C2H2 Zn finger [structural motif]
    sd00019
    Location:143 → 162
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam01352
    Location:2 → 37
    KRAB; KRAB box
    pfam13465
    Location:547 → 571
    zf-H2C2_2; Zinc-finger double domain

  10. XM_047439315.1 → XP_047295271.1  zinc finger protein 43 isoform X1

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NW_003315964.2 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    166136..170222 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    21943416..21990533 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054321957.1 → XP_054177932.1  zinc finger protein 43 isoform X1

  2. XM_054321956.1 → XP_054177931.1  zinc finger protein 43 isoform X1

  3. XM_054321959.1 → XP_054177934.1  zinc finger protein 43 isoform X1

  4. XM_054321960.1 → XP_054177935.1  zinc finger protein 43 isoform X1

  5. XM_054321962.1 → XP_054177937.1  zinc finger protein 43 isoform X1

  6. XM_054321958.1 → XP_054177933.1  zinc finger protein 43 isoform X1

  7. XM_054321954.1 → XP_054177929.1  zinc finger protein 43 isoform X1

  8. XM_054321955.1 → XP_054177930.1  zinc finger protein 43 isoform X1

  9. XM_054321953.1 → XP_054177928.1  zinc finger protein 43 isoform X1

  10. XM_054321961.1 → XP_054177936.1  zinc finger protein 43 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P17038.4 GenPept UniProtKB/Swiss-Prot:P17038

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