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    ZNF91 zinc finger protein 91 [ Homo sapiens (human) ]

    Gene ID: 7644, updated on 5-Mar-2024

    Summary

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    Official Symbol
    ZNF91provided by HGNC
    Official Full Name
    zinc finger protein 91provided by HGNC
    Primary source
    HGNC:HGNC:13166
    See related
    Ensembl:ENSG00000167232 MIM:603971; AllianceGenome:HGNC:13166
    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
    HPF7; HTF10
    Summary
    The ZNF91 gene encodes a zinc finger protein of the KRAB (Kruppel-associated box) subfamily (Bellefroid et al., 1991, 1993 [PubMed 2023909] [PubMed 8467795]).[supplied by OMIM, May 2010]
    Expression
    Ubiquitous expression in small intestine (RPKM 3.5), thyroid (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:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (23305004..23395471, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (23439806..23533334, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (23540498..23578273, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene vomeronasal 1 receptor 90 pseudogene Neighboring gene vomeronasal 1 receptor 91 pseudogene Neighboring gene uncharacterized LOC124904675 Neighboring gene uncharacterized LOC124904674 Neighboring gene uncharacterized LOC107985285 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:23505725-23506518 Neighboring gene CDC42 effector protein 3 pseudogene 1 Neighboring gene BCL2 interacting protein 3 pseudogene 8 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:23577675-23578543 Neighboring gene uncharacterized LOC105372335 Neighboring gene long intergenic non-protein coding RNA 1224 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:23597843-23598500 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr19:23598501-23599156 Neighboring gene vomeronasal 1 receptor 92 pseudogene

    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. Characterization of the human Fc gamma RIIB gene promoter: human zinc-finger proteins (ZNF140 and ZNF91) that bind to different regions function as transcription repressors. Nishimura T, et al. Int Immunol, 2001 Aug. PMID 11470777
    2. An evolutionary arms race between KRAB zinc-finger genes ZNF91/93 and SVA/L1 retrotransposons. Jacobs FM, et al. Nature, 2014 Dec 11. PMID 25274305, Free PMC Article
    3. The human genome contains hundreds of genes coding for finger proteins of the Krüppel type. Bellefroid EJ, et al. DNA, 1989 Jul-Aug. PMID 2505992
    4. The evolutionarily conserved Krüppel-associated box domain defines a subfamily of eukaryotic multifingered proteins. Bellefroid EJ, et al. Proc Natl Acad Sci U S A, 1991 May 1. PMID 2023909, Free PMC Article
    5. Novel activity of KRAB domain that functions to reinforce nuclear localization of KRAB-containing zinc finger proteins by interacting with KAP1. Wang W, et al. Cell Mol Life Sci, 2013 Oct. PMID 23665872

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
    Submit: New GeneRIF Correction

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription activator activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-binding transcription factor activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables zinc ion binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in negative regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in retrotransposon silencing IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    zinc finger protein 91
    Names
    zinc finger protein 91 (HPF7, HTF10)
    zinc finger protein HPF7
    zinc finger protein HTF10

    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_001300951.2 → NP_001287880.1  zinc finger protein 91 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. It encodes isoform 2, which lacks an internal segment and is shorter, compared to isoform 1.
      Source sequence(s)
      AC010300, AC016628, AI590336, AK291256, AK300294, DB068854, L11672
      Consensus CDS
      CCDS74322.1
      UniProtKB/Swiss-Prot
      Q05481
      Related
      ENSP00000380272.2, ENST00000397082.2
      Conserved Domains (5) summary
      smart00349
      Location:13 → 55
      KRAB; krueppel associated box
      COG5048
      Location:596 → 1037
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:236 → 256
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:13 → 52
      KRAB; KRAB box
      pfam13465
      Location:585 → 609
      zf-H2C2_2; Zinc-finger double domain

    2. NM_003430.4 → NP_003421.2  zinc finger protein 91 isoform 1

      See identical proteins and their annotated locations for NP_003421.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC010300, AC016628, AI590336, AK291256, AK300294, DB068854, L11672
      Consensus CDS
      CCDS42541.1
      UniProtKB/Swiss-Prot
      A8K5E1, B7Z6G6, Q05481
      Related
      ENSP00000300619.6, ENST00000300619.12
      Conserved Domains (5) summary
      smart00349
      Location:13 → 73
      KRAB; krueppel associated box
      COG5048
      Location:628 → 1069
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:268 → 288
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:13 → 52
      KRAB; KRAB box
      pfam13465
      Location:617 → 641
      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
      23305004..23395471 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024451693.2 → XP_024307461.1  zinc finger protein 91 isoform X1

      Conserved Domains (1) summary
      smart00349
      Location:13 → 73
      KRAB; krueppel associated box

    RNA

    1. XR_007066982.1 RNA Sequence

    2. XR_001753754.3 RNA Sequence

    3. XR_007066980.1 RNA Sequence

    4. XR_007066981.1 RNA Sequence

    5. XR_007066978.1 RNA Sequence

    6. XR_007066979.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      23439806..23533334 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054321997.1 → XP_054177972.1  zinc finger protein 91 isoform X1

    RNA

    1. XR_008485188.1 RNA Sequence

    2. XR_008485186.1 RNA Sequence

    3. XR_008485187.1 RNA Sequence

    4. XR_008485185.1 RNA Sequence

    5. XR_008485184.1 RNA Sequence

    6. XR_008485183.1 RNA Sequence

    7. XR_008485182.1 RNA Sequence

    8. XR_008485181.1 RNA Sequence

    9. XR_008485180.1 RNA Sequence

    10. XR_008485189.1 RNA Sequence

    11. XR_008485190.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q05481.2 GenPept UniProtKB/Swiss-Prot:Q05481

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