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    ZNF100 zinc finger protein 100 [ Homo sapiens (human) ]

    Gene ID: 163227, updated on 5-Mar-2024

    Summary

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    Official Symbol
    ZNF100provided by HGNC
    Official Full Name
    zinc finger protein 100provided by HGNC
    Primary source
    HGNC:HGNC:12880
    See related
    Ensembl:ENSG00000197020 MIM:603982; AllianceGenome:HGNC:12880
    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, DNA-templated. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in testis (RPKM 4.3), lymph node (RPKM 3.3) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    Location:
    19p12
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (21722771..21767579, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (21861386..21906195, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (21905573..21950381, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene metadherin pseudogene 4 Neighboring gene vomeronasal 1 receptor 84 pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:21933229-21933730 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:21933731-21934230 Neighboring gene cyclin Y like 6 (pseudogene) Neighboring gene ReSE screen-validated silencer GRCh37_chr19:21950368-21950545 Neighboring gene BRI3 binding protein pseudogene 1 Neighboring gene zinc finger protein 43 Neighboring gene BCL2 interacting protein 3 pseudogene 27

    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. Analyses of germline variants associated with ovarian cancer survival identify functional candidates at the 1q22 and 19p12 outcome loci. Glubb DM, et al. Oncotarget, 2017 Sep 12. PMID 29029385, Free PMC Article
    2. Clustered organization of homologous KRAB zinc-finger genes with enhanced expression in human T lymphoid cells. Bellefroid EJ, et al. EMBO J, 1993 Apr. PMID 8467795, Free PMC Article
    3. Identification of HYPK-interacting proteins reveals involvement of HYPK in regulating cell growth, cell cycle, unfolded protein response and cell death. Choudhury KR, et al. PLoS One, 2012. PMID 23272104, Free PMC Article
    4. ARHGAP24 represses β-catenin transactivation-induced invasiveness in hepatocellular carcinoma mainly by acting as a GTPase-independent scaffold. Yang W, et al. Theranostics, 2022. PMID 36168627, Free PMC Article
    5. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. Brandenberger R, et al. Nat Biotechnol, 2004 Jun. PMID 15146197

    See all (15) 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

    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

    • FLJ44587

    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 DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    zinc finger protein 100
    Names
    zinc finger protein 100 (Y1)

    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.

    Genomic

    1. NG_054926.1 RefSeqGene

      Range
      5050..49858
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001351669.2 → NP_001338598.1  zinc finger protein 100 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC092364
      Conserved Domains (3) summary
      smart00349
      Location:35 → 95
      KRAB; krueppel associated box
      COG5048
      Location:258 → 525
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:234 → 254
      ZF_C2H2; C2H2 Zn finger [structural motif]

    2. NM_001351670.2 → NP_001338599.1  zinc finger protein 100 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC092364
      Conserved Domains (3) summary
      COG5048
      Location:226 → 493
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:202 → 222
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:34 → 74
      KRAB; KRAB box

    3. NM_001351671.2 → NP_001338600.1  zinc finger protein 100 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC092364
      Conserved Domains (2) summary
      COG5048
      Location:158 → 425
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:134 → 154
      ZF_C2H2; C2H2 Zn finger [structural motif]

    4. NM_001351672.2 → NP_001338601.1  zinc finger protein 100 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC092364
      Conserved Domains (2) summary
      COG5048
      Location:44 → 311
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:20 → 40
      ZF_C2H2; C2H2 Zn finger [structural motif]

    5. NM_173531.4 → NP_775802.2  zinc finger protein 100 isoform 1

      See identical proteins and their annotated locations for NP_775802.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC092364, AK126551, CN302052, DA241750
      Consensus CDS
      CCDS42538.1
      UniProtKB/Swiss-Prot
      Q7M4M0, Q8IYN0
      Related
      ENSP00000351042.5, ENST00000358296.11
      Conserved Domains (5) summary
      smart00349
      Location:35 → 96
      KRAB; krueppel associated box
      COG5048
      Location:150 → 534
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:235 → 255
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:35 → 74
      KRAB; KRAB box
      pfam13465
      Location:248 → 272
      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
      21722771..21767579 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047438364.1 → XP_047294320.1  zinc finger protein 100 isoform X1

      Related
      ENSP00000445201.3, ENST00000305570.10

    2. XM_047438363.1 → XP_047294319.1  zinc finger protein 100 isoform X1

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NW_003315964.2 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      83961..128769 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054329599.1 → XP_054185574.1  zinc finger protein 100 isoform X1

    2. XM_054329598.1 → XP_054185573.1  zinc finger protein 100 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      21861386..21906195 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054320107.1 → XP_054176082.1  zinc finger protein 100 isoform X1

    2. XM_054320106.1 → XP_054176081.1  zinc finger protein 100 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IYN0.2 GenPept UniProtKB/Swiss-Prot:Q8IYN0

    Gene LinkOut

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

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