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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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See ZNF100 in Genome Data Viewer
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

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