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

Gene ID: 84905, updated on 17-Jun-2019

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
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
Expression
Ubiquitous expression in testis (RPKM 1.6), spleen (RPKM 1.5) and 25 other tissues See more
Orthologs

Genomic context

See ZNF341 in Genome Data Viewer
Location:
20q11.22
Exon count:
15
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (33731657..33792269)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (32319566..32380075)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene E2F transcription factor 1 Neighboring gene peroxisomal membrane protein 4 Neighboring gene ribosomal protein L31 pseudogene 2 Neighboring gene Sharpr-MPRA regulatory region 4652 Neighboring gene ZNF341 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 12013 Neighboring gene charged multivesicular body protein 4B

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: CN258118 OMIM: 618282 GeneReviews: Not available
not available

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
DNA-binding transcription factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
bacterial-type RNA polymerase transcriptional activator activity, sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
positive regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription, DNA-templated IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

NCBI Reference Sequences (RefSeq)

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
    5001..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
    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_001282935.1NP_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/Swiss-Prot
    Q9BYN7
    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_032819.4NP_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, DB091229
    Consensus CDS
    CCDS13227.1
    UniProtKB/Swiss-Prot
    Q9BYN7
    UniProtKB/TrEMBL
    Q504V9
    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_104259.1 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: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    33731657..33792269
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_002958536.1 RNA Sequence

  2. XR_001754424.2 RNA Sequence

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