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

Gene ID: 284323, updated on 5-Mar-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, Apr 2022]
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_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (40069152..40090943, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (42889360..42911150, complement)
105.20220307 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
  • 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. The DNA sequence and biology of human chromosome 19. Grimwood J, et al. Nature, 2004 Apr 1. PMID 15057824
  3. 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
  4. 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
  5. An AP-MS- and BioID-compatible MAC-tag enables comprehensive mapping of protein interactions and subcellular localizations. Liu X, et al. Nat Commun, 2018 Mar 22. PMID 29568061, Free PMC Article

See all (16) citations in PubMed

GeneRIFs: Gene References Into Functions

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

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_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
    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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