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

    Gene ID: 83744, updated on 10-Dec-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, Dec 2024]
    Expression
    Ubiquitous expression in testis (RPKM 2.5), brain (RPKM 1.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ZNF484 in Genome Data Viewer
    Location:
    9q22.31
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (92844182..92878038, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (105004630..105044436, complement)
    RS_2024_09 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 B member 2, 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: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 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. Identification of motif-based interactions between SARS-CoV-2 protein domains and human peptide ligands pinpoint antiviral targets. Mihalič F, et al. Nat Commun, 2023 Sep 13. PMID 37704626, Free PMC Article
    3. DNA sequence and analysis of human chromosome 9. Humphray SJ, et al. Nature, 2004 May 27. PMID 15164053, Free PMC Article
    4. Functional proteomics mapping of a human signaling pathway. Colland F, et al. Genome Res, 2004 Jul. PMID 15231748, Free PMC Article
    5. 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

    See all (13) 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)

    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_2024_08

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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