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    ZNF341 zinc finger protein 341 [ Homo sapiens (human) ]

    Gene ID: 84905, updated on 1-Mar-2024

    Summary

    Official Symbol
    ZNF341provided by HGNC
    Official Full Name
    zinc finger protein 341provided by HGNC
    Primary source
    HGNC:HGNC:15992
    See related
    Ensembl:ENSG00000131061 MIM:618269; AllianceGenome:HGNC:15992
    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
    HIES3
    Summary
    Enables DNA binding activity and DNA-binding transcription activator activity. Predicted to be involved in regulation of transcription, DNA-templated. Located in nucleus. Implicated in hyper IgE recurrent infection syndrome 3. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in testis (RPKM 1.6), spleen (RPKM 1.5) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See ZNF341 in Genome Data Viewer
    Location:
    20q11.22
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (33731996..33792269)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (35458351..35518627)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (32319802..32380075)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17741 Neighboring gene peroxisomal membrane protein 4 Neighboring gene uncharacterized LOC124904890 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17742 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17743 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12821 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:32321171-32321874 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:32349191-32349692 Neighboring gene ribosomal protein L31 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17745 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12822 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17746 Neighboring gene Sharpr-MPRA regulatory region 4652 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12823 Neighboring gene Sharpr-MPRA regulatory region 14745 Neighboring gene ZNF341 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 12013 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:32399709-32400549 Neighboring gene charged multivesicular body protein 4B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12825 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17749 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:32441073-32441573 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12826 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:32450578-32450741 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17750 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:32458568-32459068 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17751 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17752 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:32495633-32496134 Neighboring gene tropomyosin 3 pseudogene 2

    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

    Phenotypes

    Associated conditions

    Description Tests
    Hyper-IgE recurrent infection syndrome 3, autosomal recessive
    MedGen: C4748969 OMIM: 618282 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    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.

    Genomic

    1. NG_053072.1 RefSeqGene

      Range
      5237..65510
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001282933.2NP_001269862.1  zinc finger protein 341 isoform 1

      See identical proteins and their annotated locations for NP_001269862.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AK027550, BC094738, BC132873
      Consensus CDS
      CCDS74719.1
      UniProtKB/Swiss-Prot
      A2RUF4, B2RXE5, B7ZM09, Q5JXM8, Q96ST5, Q9BYN7
      UniProtKB/TrEMBL
      Q504V9
      Related
      ENSP00000364346.1, ENST00000375200.6
      Conserved Domains (3) summary
      COG5048
      Location:323729
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:568588
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:542562
      ZF_C2H2; C2H2 Zn finger [structural motif]
    2. NM_001282935.2NP_001269864.1  zinc finger protein 341 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate exon in the 5' coding region and initiates translation from an alternate start codon, compared to variant 1. It encodes isoform 3, which is shorter and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AK027550, BC094738, DB091229
      UniProtKB/TrEMBL
      Q504V9
      Conserved Domains (5) summary
      COG5048
      Location:233639
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:478498
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:452472
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:233254
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:246271
      zf-H2C2_2; Zinc-finger double domain
    3. NM_032819.5NP_116208.3  zinc finger protein 341 isoform 2

      See identical proteins and their annotated locations for NP_116208.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.
      Source sequence(s)
      AK027550, BC094738, BC157823
      Consensus CDS
      CCDS13227.1
      UniProtKB/TrEMBL
      B3KU97
      Related
      ENSP00000344308.2, ENST00000342427.6
      Conserved Domains (3) summary
      COG5048
      Location:316722
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:561581
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:535555
      ZF_C2H2; C2H2 Zn finger [structural motif]

    RNA

    1. NR_104259.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK027550, BC063492, BC094738, DB091229
      Related
      ENST00000483118.5

    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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      33731996..33792269
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      35458351..35518627
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)