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    ZFAND1 zinc finger AN1-type containing 1 [ Homo sapiens (human) ]

    Gene ID: 79752, updated on 9-Dec-2024

    Summary

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    Official Symbol
    ZFAND1provided by HGNC
    Official Full Name
    zinc finger AN1-type containing 1provided by HGNC
    Primary source
    HGNC:HGNC:25858
    See related
    Ensembl:ENSG00000104231 AllianceGenome:HGNC:25858
    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
    Enables proteasome binding activity. Involved in cellular response to arsenite ion; positive regulation of intracellular protein transport; and stress granule disassembly. Located in cytoplasmic stress granule. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 23.7), ovary (RPKM 15.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ZFAND1 in Genome Data Viewer
    Location:
    8q21.13
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (81701331..81721304, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (82133043..82153000, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (82613566..82633539, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene inositol monophosphatase 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:82598306-82598806 Neighboring gene solute carrier family 10 member 5 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:82632569-82633513 Neighboring gene charged multivesicular body protein 4C Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:82695196-82696395 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 36 Neighboring gene sorting nexin 16

    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. Structural insight into the ZFAND1-p97 interaction involved in stress granule clearance. Lai CH, et al. J Biol Chem, 2024 May. PMID 38537699, Free PMC Article
    2. Ubiquitination of G3BP1 mediates stress granule disassembly in a context-specific manner. Gwon Y, et al. Science, 2021 Jun 25. PMID 34739333, Free PMC Article
    3. ZFAND1 Recruits p97 and the 26S Proteasome to Promote the Clearance of Arsenite-Induced Stress Granules. Turakhiya A, et al. Mol Cell, 2018 Jun 7. PMID 29804830
    4. GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer. Pharoah PD, et al. Nat Genet, 2013 Apr. PMID 23535730, Free PMC Article
    5. A conserved protein with AN1 zinc finger and ubiquitin-like domains modulates Cdc48 (p97) function in the ubiquitin-proteasome pathway. Sá-Moura B, et al. J Biol Chem, 2013 Nov 22. PMID 24121501, Free PMC Article

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Structural insight into the ZFAND1-p97 interaction involved in stress granule clearance.
      Title: Structural insight into the ZFAND1-p97 interaction involved in stress granule clearance.
    2. By recruiting the 26S proteasome and the ubiquitin-selective ATPase p97 to arsenite-induced stress granules, ZFAND1 ensures their timely clearance and prevents their aberration.
      Title: ZFAND1 Recruits p97 and the 26S Proteasome to Promote the Clearance of Arsenite-Induced Stress Granules.
    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

    EBI GWAS Catalog

    Description
    GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ14007

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables proteasome binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in cellular response to arsenite ion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    NOT involved_in cellular response to heat IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    NOT involved_in cellular response to osmotic stress IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    NOT involved_in cellular response to oxidative stress IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of intracellular protein transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in stress granule disassembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in stress granule disassembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in cytoplasmic stress granule IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasmic stress granule IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    AN1-type zinc finger protein 1
    Names
    zinc finger AN1-type-containing protein 1
    zinc finger, AN1-type domain 1
    NP_001164267.1
    NP_001164268.1
    NP_078975.2

    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_001170796.1 → NP_001164267.1  AN1-type zinc finger protein 1 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.
      Source sequence(s)
      AC132219, AK225195, BQ427843, BU678501
      Consensus CDS
      CCDS55251.1
      UniProtKB/Swiss-Prot
      Q8TCF1
      Related
      ENSP00000430736.1, ENST00000523096.5
      Conserved Domains (1) summary
      pfam01428
      Location:10 → 46
      zf-AN1; AN1-like Zinc finger

    2. NM_001170797.2 → NP_001164268.1  AN1-type zinc finger protein 1 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 3' coding region and 3' UTR, compared to variant 1, resulting in an isoform (c) with a distinct and shorter C-terminus, compared to isoform a.
      Source sequence(s)
      BQ427843, CA412820
      Consensus CDS
      CCDS55250.1
      UniProtKB/Swiss-Prot
      Q8TCF1
      Related
      ENSP00000429167.1, ENST00000519523.5
      Conserved Domains (1) summary
      pfam01428
      Location:10 → 46
      zf-AN1; AN1-like Zinc finger

    3. NM_024699.3 → NP_078975.2  AN1-type zinc finger protein 1 isoform a

      See identical proteins and their annotated locations for NP_078975.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AC132219, BC022251, BQ427843, BU678501
      Consensus CDS
      CCDS6232.1
      UniProtKB/Swiss-Prot
      E5RIG0, E5RJ99, Q658R7, Q6IA32, Q6PGQ6, Q8TCF1, Q9H810
      Related
      ENSP00000220669.5, ENST00000220669.10
      Conserved Domains (1) summary
      pfam01428
      Location:10 → 46
      zf-AN1; AN1-like Zinc finger

    RNA

    1. NR_033193.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an alternate internal exon but includes a different alternate internal exon, compared to variant 1. This variant is represented as non-coding due to the presence of upstream ORFs that are predicted to interfere with the translation of the longest ORF; translation from an upstream ORF makes the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC132219, BG618233, BQ427843, BU678501

    2. NR_033194.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding due to the presence of upstream ORFs that are predicted to interfere with the translation of the longest ORF; translation from an upstream ORF makes the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC132219, BC051857, BQ427843, BU678501

    3. NR_033195.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) uses an alternate splice site in the 5' exon and lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding due to the presence of upstream ORFs that are predicted to interfere with the translation of the longest ORF; translation from an upstream ORF makes the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC132219, BQ427843, BQ435400, BU678501

    4. NR_033196.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) lacks an alternate internal exon and differs in its 3'-most exon, compared to variant 1. This variant is represented as non-coding due to the presence of upstream ORFs that are predicted to interfere with the translation of the longest ORF; translation from an upstream ORF makes the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC132219, BQ427843, BU624414
      Related
      ENST00000517588.5

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      81701331..81721304 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      82133043..82153000 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TCF1.1 GenPept UniProtKB/Swiss-Prot:Q8TCF1

    Gene LinkOut

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

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