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    ZNHIT1 zinc finger HIT-type containing 1 [ Homo sapiens (human) ]

    Gene ID: 10467, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ZNHIT1provided by HGNC
    Official Full Name
    zinc finger HIT-type containing 1provided by HGNC
    Primary source
    HGNC:HGNC:21688
    See related
    Ensembl:ENSG00000106400 MIM:618617; AllianceGenome:HGNC:21688
    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
    CG1I; ZNFN4A1; p18(Hamlet)
    Summary
    Enables histone binding activity. Involved in muscle cell differentiation and positive regulation of DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator. Located in nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in liver (RPKM 23.5), kidney (RPKM 21.2) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See ZNHIT1 in Genome Data Viewer
    Location:
    7q22.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (101218165..101224190)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (102541627..102547653)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (100861446..100867471)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:100846277-100847083 Neighboring gene ribosomal protein SA pseudogene 46 Neighboring gene procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100859968-100860490 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18481 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26401 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100861252-100861793 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:100870334-100870510 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:100874831-100875752 Neighboring gene claudin 15 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:100883201-100883744 Neighboring gene fission, mitochondrial 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26402 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26403

    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 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 combined proteomics and bioinformatics analysis of ZNHIT1-interacting proteins reveals a significant enrichment in proteins associated with mitochondrial function. Anantha J, et al. J Chem Neuroanat, 2023 Sep. PMID 37178741
    2. Gene Co-expression Analysis of the Human Substantia Nigra Identifies ZNHIT1 as an SNCA Co-expressed Gene that Protects Against α-Synuclein-Induced Impairments in Neurite Growth and Mitochondrial Dysfunction in SH-SY5Y Cells. McCarthy E, et al. Mol Neurobiol, 2022 May. PMID 35175558, Free PMC Article
    3. Znhit1 and HIF-2α are correlated with cancer stem cell markers in breast cancer patients. Ebeid SA, et al. Sci Rep, 2022 Aug 17. PMID 35978075, Free PMC Article
    4. p18(Hamlet) mediates different p53-dependent responses to DNA-damage inducing agents. Lafarga V, et al. Cell Cycle, 2007 Oct 1. PMID 17700068
    5. A new p38 MAP kinase-regulated transcriptional coactivator that stimulates p53-dependent apoptosis. Cuadrado A, et al. EMBO J, 2007 Apr 18. PMID 17380123, Free PMC Article

    See all (41) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A combined proteomics and bioinformatics analysis of ZNHIT1-interacting proteins reveals a significant enrichment in proteins associated with mitochondrial function.
      Title: A combined proteomics and bioinformatics analysis of ZNHIT1-interacting proteins reveals a significant enrichment in proteins associated with mitochondrial function.
    2. Znhit1 and HIF-2alpha are correlated with cancer stem cell markers in breast cancer patients.
      Title: Znhit1 and HIF-2α are correlated with cancer stem cell markers in breast cancer patients.
    3. Gene Co-expression Analysis of the Human Substantia Nigra Identifies ZNHIT1 as an SNCA Co-expressed Gene that Protects Against alpha-Synuclein-Induced Impairments in Neurite Growth and Mitochondrial Dysfunction in SH-SY5Y Cells.
      Title: Gene Co-expression Analysis of the Human Substantia Nigra Identifies ZNHIT1 as an SNCA Co-expressed Gene that Protects Against α-Synuclein-Induced Impairments in Neurite Growth and Mitochondrial Dysfunction in SH-SY5Y Cells.
    4. Study reports that p18(Hamlet) can also mediate the cell cycle arrest induced in response to gamma-irradiation, by participating in the p53-dependent upregulation of the cell cycle inhibitor p21(Cip1) (CDKN1A).
      Title: p18(Hamlet) mediates different p53-dependent responses to DNA-damage inducing agents.
    5. p18(Hamlet) is a new cell-fate regulator that links the p38 MAPK and p53 pathways and contributes to the establishment of p53-regulated stress responses.
      Title: A new p38 MAP kinase-regulated transcriptional coactivator that stimulates p53-dependent apoptosis.
    Submit: New GeneRIF Correction

    Phenotypes

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    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables histone binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables nucleosome binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in calcium ion homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in chromatin remodeling ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in chromatin remodeling NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in heart process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in intestinal stem cell homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in muscle cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of lymphoid progenitor cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of transcription initiation by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of DNA-templated transcription NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of Swr1 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    part_of nucleosome NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    zinc finger HIT domain-containing protein 1
    Names
    H_DJ0747G18.14
    cyclin-G1-binding protein 1
    p18 Hamlet
    p18Hamlet
    putative cyclin G1 interacting protein
    zinc finger protein subfamily 4A member 1
    zinc finger protein, subfamily 4A (HIT domain containing), member 1
    zinc finger, HIT domain containing 1
    zinc finger, HIT type 1

    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_006349.3 → NP_006340.1  zinc finger HIT domain-containing protein 1

      See identical proteins and their annotated locations for NP_006340.1

      Status: VALIDATED

      Source sequence(s)
      BC001877, BC017333
      Consensus CDS
      CCDS5716.1
      UniProtKB/Swiss-Prot
      O43257, Q6IB12
      UniProtKB/TrEMBL
      B2R5C5
      Related
      ENSP00000304593.2, ENST00000305105.3
      Conserved Domains (2) summary
      pfam04438
      Location:113 → 140
      zf-HIT; HIT zinc finger
      cl02154
      Location:75 → 135
      YL1_C; YL1 nuclear protein C-terminal domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      101218165..101224190
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011515739.3 → XP_011514041.1  zinc finger HIT domain-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      B2R5C5
      Conserved Domains (2) summary
      pfam04438
      Location:128 → 155
      zf-HIT; HIT zinc finger
      cl02154
      Location:90 → 150
      YL1_C; YL1 nuclear protein C-terminal domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      102541627..102547653
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054357091.1 → XP_054213066.1  zinc finger HIT domain-containing protein 1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O43257.1 GenPept UniProtKB/Swiss-Prot:O43257

    Gene LinkOut

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