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ZNF484 zinc finger protein 484 [ Homo sapiens (human) ]

Gene ID: 83744, updated on 5-Mar-2024

Summary

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Official Symbol
ZNF484provided by HGNC
Official Full Name
zinc finger protein 484provided by HGNC
Primary source
HGNC:HGNC:23385
See related
Ensembl:ENSG00000127081 AllianceGenome:HGNC:23385
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
BA526D8.4
Summary
Predicted to enable DNA-binding transcription activator 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 testis (RPKM 2.5), brain (RPKM 1.4) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
9q22.31
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (92844182..92878038, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (105004630..105044436, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (95606464..95640320, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene ankyrin repeat domain 19, pseudogene Neighboring gene zinc finger protein 41 pseudogene Neighboring gene eukaryotic translation elongation factor 1 delta pseudogene 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:95640075-95640610 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:95644899-95645416 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:95645417-95645933 Neighboring gene SPATA31 subfamily A pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:95653403-95653903 Neighboring gene sorting nexin 18 pseudogene 2

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. Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. Fox CS, et al. PLoS Genet, 2012. PMID 22589738, Free PMC Article
  2. DNA sequence and analysis of human chromosome 9. Humphray SJ, et al. Nature, 2004 May 27. PMID 15164053, Free PMC Article
  3. Functional proteomics mapping of a human signaling pathway. Colland F, et al. Genome Res, 2004 Jul. PMID 15231748, Free PMC Article
  4. RNA-binding activity of TRIM25 is mediated by its PRY/SPRY domain and is required for ubiquitination. Choudhury NR, et al. BMC Biol, 2017 Nov 8. PMID 29117863, Free PMC Article
  5. VIRMA mediates preferential m(6)A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. Yue Y, et al. Cell Discov, 2018. PMID 29507755, Free PMC Article

See all (12) 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

EBI GWAS Catalog

Description
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
EBI GWAS Catalog

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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Homology

Clone Names

  • MGC133033, MGC133034

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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 484
Names
KRAB box containing C2H2 type zinc finger bA526D8.4

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_001007101.4 → NP_001007102.1  zinc finger protein 484 isoform b

    See identical proteins and their annotated locations for NP_001007102.1

    Status: VALIDATED

    Source sequence(s)
    AL136981
    Consensus CDS
    CCDS35067.1
    UniProtKB/Swiss-Prot
    Q5JVG2
    Related
    ENSP00000364646.3, ENST00000332591.6
    Conserved Domains (3) summary
    COG5048
    Location:374 → 775
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:658 → 678
    ZF_C2H2; C2H2 Zn finger [structural motif]
    cl02581
    Location:1 → 31
    KRAB_A-box; KRAB (Kruppel-associated box) domain -A box

  2. NM_001261458.3 → NP_001248387.1  zinc finger protein 484 isoform c

    See identical proteins and their annotated locations for NP_001248387.1

    Status: VALIDATED

    Source sequence(s)
    AL136981
    Consensus CDS
    CCDS59136.1
    UniProtKB/Swiss-Prot
    Q5JVG2
    Related
    ENSP00000378881.3, ENST00000395505.6
    Conserved Domains (6) summary
    smart00349
    Location:10 → 69
    KRAB; krueppel associated box
    COG5048
    Location:412 → 813
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:696 → 716
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:722 → 744
    zf-C2H2; Zinc finger, C2H2 type
    pfam01352
    Location:10 → 49
    KRAB; KRAB box
    pfam13465
    Location:736 → 759
    zf-H2C2_2; Zinc-finger double domain

  3. NM_001261459.3 → NP_001248388.1  zinc finger protein 484 isoform b

    See identical proteins and their annotated locations for NP_001248388.1

    Status: VALIDATED

    Source sequence(s)
    AL136981
    Consensus CDS
    CCDS35067.1
    UniProtKB/Swiss-Prot
    Q5JVG2
    Related
    ENSP00000378882.4, ENST00000395506.7
    Conserved Domains (3) summary
    COG5048
    Location:374 → 775
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:658 → 678
    ZF_C2H2; C2H2 Zn finger [structural motif]
    cl02581
    Location:1 → 31
    KRAB_A-box; KRAB (Kruppel-associated box) domain -A box

  4. NM_001261460.3 → NP_001248389.1  zinc finger protein 484 isoform b

    See identical proteins and their annotated locations for NP_001248389.1

    Status: VALIDATED

    Source sequence(s)
    AL136981
    Consensus CDS
    CCDS35067.1
    UniProtKB/Swiss-Prot
    Q5JVG2
    Conserved Domains (3) summary
    COG5048
    Location:374 → 775
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:658 → 678
    ZF_C2H2; C2H2 Zn finger [structural motif]
    cl02581
    Location:1 → 31
    KRAB_A-box; KRAB (Kruppel-associated box) domain -A box

  5. NM_001354536.2 → NP_001341465.1  zinc finger protein 484 isoform b

    Status: VALIDATED

    Source sequence(s)
    AL136981
    Consensus CDS
    CCDS35067.1
    Conserved Domains (3) summary
    COG5048
    Location:374 → 775
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:658 → 678
    ZF_C2H2; C2H2 Zn finger [structural motif]
    cl02581
    Location:1 → 31
    KRAB_A-box; KRAB (Kruppel-associated box) domain -A box

  6. NM_001354537.2 → NP_001341466.1  zinc finger protein 484 isoform d

    Status: VALIDATED

    Source sequence(s)
    AL136981
    Conserved Domains (4) summary
    smart00349
    Location:25 → 84
    KRAB; krueppel associated box
    COG5048
    Location:427 → 828
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:711 → 731
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:387 → 412
    zf-H2C2_2; Zinc-finger double domain

  7. NM_031486.4 → NP_113674.1  zinc finger protein 484 isoform a

    See identical proteins and their annotated locations for NP_113674.1

    Status: VALIDATED

    Source sequence(s)
    AL136981
    Consensus CDS
    CCDS35066.1
    UniProtKB/Swiss-Prot
    B1AL89, B4DRI2, Q5JVG2
    Related
    ENSP00000364645.3, ENST00000375495.8
    Conserved Domains (3) summary
    smart00349
    Location:8 → 67
    KRAB; krueppel associated box
    COG5048
    Location:410 → 811
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:694 → 714
    ZF_C2H2; C2H2 Zn finger [structural motif]

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_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    92844182..92878038 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006717299.4 → XP_006717362.1  zinc finger protein 484 isoform X5

    See identical proteins and their annotated locations for XP_006717362.1

    Conserved Domains (5) summary
    smart00349
    Location:1 → 31
    KRAB; krueppel associated box
    COG5048
    Location:389 → 790
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:673 → 693
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:699 → 721
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:713 → 736
    zf-H2C2_2; Zinc-finger double domain

  2. XM_011519075.3 → XP_011517377.1  zinc finger protein 484 isoform X4

    Conserved Domains (6) summary
    smart00349
    Location:8 → 67
    KRAB; krueppel associated box
    COG5048
    Location:425 → 826
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:709 → 729
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:735 → 757
    zf-C2H2; Zinc finger, C2H2 type
    pfam01352
    Location:8 → 47
    KRAB; KRAB box
    pfam13465
    Location:749 → 772
    zf-H2C2_2; Zinc-finger double domain

  3. XM_017015178.2 → XP_016870667.1  zinc finger protein 484 isoform X5

    Conserved Domains (5) summary
    smart00349
    Location:1 → 31
    KRAB; krueppel associated box
    COG5048
    Location:389 → 790
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:673 → 693
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:699 → 721
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:713 → 736
    zf-H2C2_2; Zinc-finger double domain

  4. XM_011519074.3 → XP_011517376.1  zinc finger protein 484 isoform X3

    Conserved Domains (6) summary
    smart00349
    Location:10 → 69
    KRAB; krueppel associated box
    COG5048
    Location:427 → 828
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:711 → 731
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:737 → 759
    zf-C2H2; Zinc finger, C2H2 type
    pfam01352
    Location:10 → 49
    KRAB; KRAB box
    pfam13465
    Location:751 → 774
    zf-H2C2_2; Zinc-finger double domain

  5. XM_011519073.3 → XP_011517375.1  zinc finger protein 484 isoform X1

    Conserved Domains (6) summary
    smart00349
    Location:25 → 84
    KRAB; krueppel associated box
    COG5048
    Location:442 → 843
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:726 → 746
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:752 → 774
    zf-C2H2; Zinc finger, C2H2 type
    pfam01352
    Location:25 → 64
    KRAB; KRAB box
    pfam13465
    Location:766 → 789
    zf-H2C2_2; Zinc-finger double domain

  6. XM_017015179.2 → XP_016870668.1  zinc finger protein 484 isoform X5

    Conserved Domains (5) summary
    smart00349
    Location:1 → 31
    KRAB; krueppel associated box
    COG5048
    Location:389 → 790
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:673 → 693
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:699 → 721
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:713 → 736
    zf-H2C2_2; Zinc-finger double domain

  7. XM_047423945.1 → XP_047279901.1  zinc finger protein 484 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    105004630..105044436 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054363927.1 → XP_054219902.1  zinc finger protein 484 isoform X2

  2. XM_054363930.1 → XP_054219905.1  zinc finger protein 484 isoform X5

  3. XM_054363929.1 → XP_054219904.1  zinc finger protein 484 isoform X4

  4. XM_054363931.1 → XP_054219906.1  zinc finger protein 484 isoform X5

  5. XM_054363928.1 → XP_054219903.1  zinc finger protein 484 isoform X3

  6. XM_054363926.1 → XP_054219901.1  zinc finger protein 484 isoform X1

  7. XM_054363932.1 → XP_054219907.1  zinc finger protein 484 isoform X5

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5JVG2.1 GenPept UniProtKB/Swiss-Prot:Q5JVG2

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