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

    Gene ID: 7594, updated on 2-Nov-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_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (21804946..21852065, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (21943416..21990533, complement)
    RS_2024_09 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 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. 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)

    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_2024_08

    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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