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    ZNF780A zinc finger protein 780A [ Homo sapiens (human) ]

    Gene ID: 284323, updated on 28-Oct-2024

    Summary

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    Official Symbol
    ZNF780Aprovided by HGNC
    Official Full Name
    zinc finger protein 780Aprovided by HGNC
    Primary source
    HGNC:HGNC:27603
    See related
    Ensembl:ENSG00000197782 AllianceGenome:HGNC:27603
    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
    ZNF780
    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 active in nucleus. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 2.8), lymph node (RPKM 2.3) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See ZNF780A in Genome Data Viewer
    Location:
    19q13.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (40069152..40090943, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (42889360..42911150, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (40575059..40596850, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene PAT1 homolog 1, processing body mRNA decay factor pseudogene Neighboring gene zinc finger protein 780B Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr19:40541448-40542647 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14637 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:40596583-40597124 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14638 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr19:40613086-40613650 Neighboring gene uncharacterized LOC124904803 Neighboring gene MPRA-validated peak3482 silencer Neighboring gene vomeronasal 1 receptor 96 pseudogene

    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. USP7 Regulates Cytokinesis through FBXO38 and KIF20B. Georges A, et al. Sci Rep, 2019 Feb 25. PMID 30804394, Free PMC Article
    2. Acetylation-Mimic Mutation of TRIM28-Lys304 to Gln Attenuates the Interaction with KRAB-Zinc-Finger Proteins and Affects Gene Expression in Leukemic K562 Cells. Chang YJ, et al. Int J Mol Sci, 2023 Jun 6. PMID 37372979, Free PMC Article
    3. The DNA sequence and biology of human chromosome 19. Grimwood J, et al. Nature, 2004 Apr 1. PMID 15057824
    4. The in vivo Interaction Landscape of Histones H3.1 and H3.3. Siddaway R, et al. Mol Cell Proteomics, 2022 Oct. PMID 36089195, Free PMC Article
    5. Cullin 3 Exon 9 Deletion in Familial Hyperkalemic Hypertension Impairs Cullin3-Ring-E3 Ligase (CRL3) Dynamic Regulation and Cycling. Kouranti I, et al. Int J Mol Sci, 2022 May 5. PMID 35563538, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    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

    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
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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
    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 780A

    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_001010880.3 → NP_001010880.2  zinc finger protein 780A isoform b

      See identical proteins and their annotated locations for NP_001010880.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in an isoform (b) that is 1 aa shorter than isoform a. Both variants 2 and 3 encode the same isoform.
      Source sequence(s)
      AC005614, AK091274, BU685481, DA758840, DB097567
      Consensus CDS
      CCDS33026.2
      UniProtKB/Swiss-Prot
      E9PB48, O75290, Q6ZN87
      Related
      ENSP00000341507.5, ENST00000340963.9
      Conserved Domains (5) summary
      smart00349
      Location:6 → 66
      KRAB; krueppel associated box
      COG5048
      Location:219 → 595
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:335 → 355
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:6 → 45
      KRAB; KRAB box
      pfam13465
      Location:376 → 400
      zf-H2C2_2; Zinc-finger double domain

    2. NM_001142577.2 → NP_001136049.1  zinc finger protein 780A isoform a

      See identical proteins and their annotated locations for NP_001136049.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AC005614, AK091274, BC021982, BU685481, DA436454, DA758840
      Consensus CDS
      CCDS46079.1
      UniProtKB/TrEMBL
      Q05CQ7
      Related
      ENSP00000400997.1, ENST00000455521.5
      Conserved Domains (5) summary
      smart00349
      Location:6 → 67
      KRAB; krueppel associated box
      COG5048
      Location:220 → 596
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:336 → 356
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:6 → 45
      KRAB; KRAB box
      pfam13465
      Location:377 → 401
      zf-H2C2_2; Zinc-finger double domain

    3. NM_001142578.2 → NP_001136050.1  zinc finger protein 780A isoform b

      See identical proteins and their annotated locations for NP_001136050.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in an isoform (b) that is 1 aa shorter than isoform a. Both variants 2 and 3 encode the same isoform.
      Source sequence(s)
      AC005614, AK091274, BC021982, BU685481, DA758840
      Consensus CDS
      CCDS33026.2
      UniProtKB/Swiss-Prot
      E9PB48, O75290, Q6ZN87
      Related
      ENSP00000506741.1, ENST00000683561.1
      Conserved Domains (5) summary
      smart00349
      Location:6 → 66
      KRAB; krueppel associated box
      COG5048
      Location:219 → 595
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:335 → 355
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:6 → 45
      KRAB; KRAB box
      pfam13465
      Location:376 → 400
      zf-H2C2_2; Zinc-finger double domain

    4. NM_001142579.2 → NP_001136051.1  zinc finger protein 780A isoform c

      See identical proteins and their annotated locations for NP_001136051.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, 3' UTR and 3' coding region, uses an alternate in-frame splice site in its mid coding region, and includes an alternate exon containing a distinct translation start codon, compared to variant 1. The resulting isoform (c) has distinct N- and C-termini, and is shorter than isoform a.
      Source sequence(s)
      AC005614, AI638558, AK131328, AW243188
      Consensus CDS
      CCDS46078.1
      UniProtKB/Swiss-Prot
      O75290
      Related
      ENSP00000416294.1, ENST00000414720.6
      Conserved Domains (2) summary
      smart00349
      Location:22 → 82
      KRAB; krueppel associated box
      pfam01352
      Location:22 → 61
      KRAB; KRAB box

    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
      40069152..40090943 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017026619.3 → XP_016882108.1  zinc finger protein 780A isoform X2

      UniProtKB/Swiss-Prot
      E9PB48, O75290, Q6ZN87
      Conserved Domains (5) summary
      smart00349
      Location:6 → 66
      KRAB; krueppel associated box
      COG5048
      Location:219 → 595
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:335 → 355
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:6 → 45
      KRAB; KRAB box
      pfam13465
      Location:376 → 400
      zf-H2C2_2; Zinc-finger double domain

    2. XM_006723150.5 → XP_006723213.1  zinc finger protein 780A isoform X1

      See identical proteins and their annotated locations for XP_006723213.1

      UniProtKB/Swiss-Prot
      O75290
      Conserved Domains (5) summary
      smart00349
      Location:6 → 67
      KRAB; krueppel associated box
      COG5048
      Location:220 → 596
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:336 → 356
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:6 → 45
      KRAB; KRAB box
      pfam13465
      Location:377 → 401
      zf-H2C2_2; Zinc-finger double domain

    3. XM_005258773.4 → XP_005258830.1  zinc finger protein 780A isoform X1

      See identical proteins and their annotated locations for XP_005258830.1

      UniProtKB/Swiss-Prot
      O75290
      Conserved Domains (5) summary
      smart00349
      Location:6 → 67
      KRAB; krueppel associated box
      COG5048
      Location:220 → 596
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:336 → 356
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:6 → 45
      KRAB; KRAB box
      pfam13465
      Location:377 → 401
      zf-H2C2_2; Zinc-finger double domain

    4. XM_017026618.3 → XP_016882107.1  zinc finger protein 780A isoform X2

      UniProtKB/Swiss-Prot
      E9PB48, O75290, Q6ZN87
      Conserved Domains (5) summary
      smart00349
      Location:6 → 66
      KRAB; krueppel associated box
      COG5048
      Location:219 → 595
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:335 → 355
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:6 → 45
      KRAB; KRAB box
      pfam13465
      Location:376 → 400
      zf-H2C2_2; Zinc-finger double domain

    5. XM_011526771.4 → XP_011525073.1  zinc finger protein 780A isoform X1

      See identical proteins and their annotated locations for XP_011525073.1

      UniProtKB/Swiss-Prot
      O75290
      Conserved Domains (5) summary
      smart00349
      Location:6 → 67
      KRAB; krueppel associated box
      COG5048
      Location:220 → 596
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:336 → 356
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:6 → 45
      KRAB; KRAB box
      pfam13465
      Location:377 → 401
      zf-H2C2_2; Zinc-finger double domain

    6. XM_047438631.1 → XP_047294587.1  zinc finger protein 780A isoform X2

      UniProtKB/Swiss-Prot
      E9PB48, O75290, Q6ZN87

    7. XM_011526772.4 → XP_011525074.1  zinc finger protein 780A isoform X1

      See identical proteins and their annotated locations for XP_011525074.1

      UniProtKB/Swiss-Prot
      O75290
      Conserved Domains (5) summary
      smart00349
      Location:6 → 67
      KRAB; krueppel associated box
      COG5048
      Location:220 → 596
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:336 → 356
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:6 → 45
      KRAB; KRAB box
      pfam13465
      Location:377 → 401
      zf-H2C2_2; Zinc-finger double domain

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_009646206.1 Reference GRCh38.p14 PATCHES

      Range
      344295..366086 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054331640.1 → XP_054187615.1  zinc finger protein 780A isoform X2

      UniProtKB/Swiss-Prot
      E9PB48, O75290, Q6ZN87

    2. XM_054331636.1 → XP_054187611.1  zinc finger protein 780A isoform X1

    3. XM_054331637.1 → XP_054187612.1  zinc finger protein 780A isoform X1

    4. XM_054331642.1 → XP_054187617.1  zinc finger protein 780A isoform X2

      UniProtKB/Swiss-Prot
      E9PB48, O75290, Q6ZN87

    5. XM_054331638.1 → XP_054187613.1  zinc finger protein 780A isoform X1

    6. XM_054331641.1 → XP_054187616.1  zinc finger protein 780A isoform X2

      UniProtKB/Swiss-Prot
      E9PB48, O75290, Q6ZN87

    7. XM_054331639.1 → XP_054187614.1  zinc finger protein 780A isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      42889360..42911150 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054320595.1 → XP_054176570.1  zinc finger protein 780A isoform X2

      UniProtKB/Swiss-Prot
      E9PB48, O75290, Q6ZN87

    2. XM_054320591.1 → XP_054176566.1  zinc finger protein 780A isoform X1

    3. XM_054320592.1 → XP_054176567.1  zinc finger protein 780A isoform X1

    4. XM_054320597.1 → XP_054176572.1  zinc finger protein 780A isoform X2

      UniProtKB/Swiss-Prot
      E9PB48, O75290, Q6ZN87

    5. XM_054320593.1 → XP_054176568.1  zinc finger protein 780A isoform X1

    6. XM_054320596.1 → XP_054176571.1  zinc finger protein 780A isoform X2

      UniProtKB/Swiss-Prot
      E9PB48, O75290, Q6ZN87

    7. XM_054320594.1 → XP_054176569.1  zinc finger protein 780A isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O75290.3 GenPept UniProtKB/Swiss-Prot:O75290

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