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    ZNF169 zinc finger protein 169 [ Homo sapiens (human) ]

    Gene ID: 169841, updated on 11-Apr-2024

    Summary

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    Official Symbol
    ZNF169provided by HGNC
    Official Full Name
    zinc finger protein 169provided by HGNC
    Primary source
    HGNC:HGNC:12957
    See related
    Ensembl:ENSG00000175787 MIM:603404; AllianceGenome:HGNC:12957
    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 repressor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Predicted to be involved in negative regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See ZNF169 in Genome Data Viewer
    Location:
    9q22.32
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (94259298..94301829)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (106427373..106469821)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (97021580..97064111)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2603 Neighboring gene small nucleolar RNA U13 Neighboring gene uncharacterized LOC124902332 Neighboring gene NANOG hESC enhancer GRCh37_chr9:97012845-97013355 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr9:97021099-97021744 and GRCh37_chr9:97021745-97022391 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:97022392-97023037 Neighboring gene NANOG hESC enhancer GRCh37_chr9:97044568-97045069 Neighboring gene voltage dependent anion channel 1 pseudogene 11 Neighboring gene uncharacterized LOC105376154 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:97080767-97081446 Neighboring gene uncharacterized LOC124902217 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20055 Neighboring gene uncharacterized LOC100132077 Neighboring gene NUT family member 2F

    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. A YAC-based transcript map of human chromosome 9q22.1-q22.3 encompassing the loci for hereditary sensory neuropathy type I and multiple self-healing squamous epithelioma. Blair IP, et al. Genomics, 1998 Jul 15. PMID 9722951
    2. Pulsed-field gel electrophoresis and FISH mapping of chromosome 9q22: placement of a novel zinc finger gene within the NBCCS and ESS1 region. Levanat S, et al. Cytogenet Cell Genet, 1997. PMID 9186526
    3. Characterization of a YAC contig containing the NBCCS locus and a novel Kruppel-type zinc finger sequence on chromosome segment 9q22.3. Chidambaram A, et al. Genes Chromosomes Cancer, 1997 Mar. PMID 9071574
    4. Common variants at CDKAL1 and KLF9 are associated with body mass index in east Asian populations. Okada Y, et al. Nat Genet, 2012 Feb 19. PMID 22344221, Free PMC Article
    5. HAUSP regulates c-MYC expression via de-ubiquitination of TRRAP. Bhattacharya S, et al. Cell Oncol (Dordr), 2015 Aug. PMID 25925205

    See all (17) 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
    Common variants at CDKAL1 and KLF9 are associated with body mass index in east Asian populations.
    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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    Markers

    Homology

    Clone Names

    • MGC51961

    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 transcription 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
    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 169

    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_001301275.2 → NP_001288204.1  zinc finger protein 169 isoform 3

      See identical proteins and their annotated locations for NP_001288204.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus than isoform 1.
      Source sequence(s)
      AK093956, AL691447, HY115642
      Conserved Domains (3) summary
      COG5048
      Location:31 → 392
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:45 → 65
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:57 → 82
      zf-H2C2_2; Zinc-finger double domain

    2. NM_003448.3 → NP_003439.2  zinc finger protein 169 isoform 1

      See identical proteins and their annotated locations for NP_003439.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AL691447, DA490480, HY115642
      Conserved Domains (6) summary
      smart00349
      Location:14 → 73
      KRAB; krueppel associated box
      COG5048
      Location:223 → 584
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:237 → 257
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:235 → 257
      zf-C2H2; Zinc finger, C2H2 type
      pfam01352
      Location:14 → 53
      KRAB; KRAB box
      pfam13465
      Location:249 → 274
      zf-H2C2_2; Zinc-finger double domain

    3. NM_194320.4 → NP_919301.2  zinc finger protein 169 isoform 2

      See identical proteins and their annotated locations for NP_919301.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AL691447, BC047702, HY115642
      Consensus CDS
      CCDS6709.2
      UniProtKB/Swiss-Prot
      A2AGP5, A8K127, Q14929, Q6PI28
      Related
      ENSP00000378792.2, ENST00000395395.7
      Conserved Domains (3) summary
      smart00349
      Location:14 → 73
      KRAB; krueppel associated box
      COG5048
      Location:222 → 595
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:236 → 256
      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
      94259298..94301829
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024447432.2 → XP_024303200.1  zinc finger protein 169 isoform X1

      UniProtKB/Swiss-Prot
      A2AGP5, A8K127, Q14929, Q6PI28
      Conserved Domains (3) summary
      smart00349
      Location:14 → 73
      KRAB; krueppel associated box
      COG5048
      Location:222 → 595
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:236 → 256
      ZF_C2H2; C2H2 Zn finger [structural motif]

    2. XM_017014364.2 → XP_016869853.1  zinc finger protein 169 isoform X2

      UniProtKB/Swiss-Prot
      Q14929
      Conserved Domains (3) summary
      smart00349
      Location:1 → 60
      KRAB; krueppel associated box
      COG5048
      Location:209 → 570
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:223 → 243
      ZF_C2H2; C2H2 Zn finger [structural motif]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      106427373..106469821
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054362219.1 → XP_054218194.1  zinc finger protein 169 isoform X1

    2. XM_054362220.1 → XP_054218195.1  zinc finger protein 169 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q14929.3 GenPept UniProtKB/Swiss-Prot:Q14929

    Gene LinkOut

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