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    ZNF480 zinc finger protein 480 [ Homo sapiens (human) ]

    Gene ID: 147657, updated on 17-Jun-2024

    Summary

    Official Symbol
    ZNF480provided by HGNC
    Official Full Name
    zinc finger protein 480provided by HGNC
    Primary source
    HGNC:HGNC:23305
    See related
    Ensembl:ENSG00000198464 MIM:613910; AllianceGenome:HGNC:23305
    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
    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. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in thyroid (RPKM 3.1), lymph node (RPKM 2.7) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See ZNF480 in Genome Data Viewer
    Location:
    19q13.41
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (52297169..52325922)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (55384358..55413117)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (52800422..52829175)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904763 Neighboring gene Sharpr-MPRA regulatory region 2064 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15043 Neighboring gene zinc finger protein 766 Neighboring gene microRNA 643 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15044 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15045 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:52841280-52841780 Neighboring gene zinc finger protein 610 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15046 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15047 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15048 Neighboring gene zinc finger protein 880 Neighboring gene ZNF528 antisense RNA 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:52900414-52901613

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of zinc finger protein 480 (ZNF480) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Clone Names

    • MGC32104

    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
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001297624.2NP_001284553.1  zinc finger protein 480 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. It encodes isoform 2, which lacks an internal segment and is shorter, compared to isoform 1.
      Source sequence(s)
      AC010320, AK303271, AL832560, DA501214
      Consensus CDS
      CCDS77346.1
      UniProtKB/TrEMBL
      F8WEZ9
      Related
      ENSP00000334164.6, ENST00000334564.11
      Conserved Domains (6) summary
      smart00349
      Location:2767
      KRAB; krueppel associated box
      COG5048
      Location:115458
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:302322
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:356378
      zf-C2H2; Zinc finger, C2H2 type
      pfam01352
      Location:2766
      KRAB; KRAB box
      pfam13465
      Location:454479
      zf-H2C2_2; Zinc-finger double domain
    2. NM_001297625.2NP_001284554.1  zinc finger protein 480 isoform 3

      See identical proteins and their annotated locations for NP_001284554.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform 3, which has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC010320, AK096442, AL832560, DA501214
      Consensus CDS
      CCDS74437.1
      UniProtKB/Swiss-Prot
      Q8WV37
      Related
      ENSP00000335670.6, ENST00000335090.6
      Conserved Domains (4) summary
      COG5048
      Location:81424
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:268288
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:322344
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:420445
      zf-H2C2_2; Zinc-finger double domain
    3. NM_001412109.1NP_001399038.1  zinc finger protein 480 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) represents an alternate allele of this gene in several human genome assemblies including T2T-CHM13v2.0. It includes a 'TG' deletion (rs3217319) compared to GRCh38, resulting in the use of a downstream start codon. The encoded protein (isoform 4) has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      CP068259
    4. NM_144684.4NP_653285.2  zinc finger protein 480 isoform 1

      See identical proteins and their annotated locations for NP_653285.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest protein.
      Source sequence(s)
      AC010320, AK096442, AK303271, AL832560, AY512662, DA501214
      Consensus CDS
      CCDS12850.2
      UniProtKB/Swiss-Prot
      Q5JPG9, Q6P0Q4, Q8N1M5, Q8WV37
      Related
      ENSP00000471754.1, ENST00000595962.6
      Conserved Domains (6) summary
      smart00349
      Location:2787
      KRAB; krueppel associated box
      COG5048
      Location:158501
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:345365
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:399421
      zf-C2H2; Zinc finger, C2H2 type
      pfam01352
      Location:2766
      KRAB; KRAB box
      pfam13465
      Location:497522
      zf-H2C2_2; Zinc-finger double domain

    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
      52297169..52325922
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      55384358..55413117
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)