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    DNAAF10 dynein axonemal assembly factor 10 [ Homo sapiens (human) ]

    Gene ID: 116143, updated on 28-Oct-2024

    Summary

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    Official Symbol
    DNAAF10provided by HGNC
    Official Full Name
    dynein axonemal assembly factor 10provided by HGNC
    Primary source
    HGNC:HGNC:25176
    See related
    Ensembl:ENSG00000243667 MIM:610729; AllianceGenome:HGNC:25176
    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
    WDR92
    Summary
    This gene encodes a protein with two WD40 repeat domains thought to be involved in an apoptosis via activation of caspase-3. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]
    Expression
    Ubiquitous expression in testis (RPKM 4.8), prostate (RPKM 3.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DNAAF10 in Genome Data Viewer
    Location:
    2p14
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (68129805..68157527, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (68140355..68168077, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (68356937..68384659, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene small integral membrane protein 30-like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15942 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15943 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15944 Neighboring gene Sharpr-MPRA regulatory region 1618 Neighboring gene peptidylprolyl isomerase A pseudogene 64 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:68383902-68384834 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15947 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_59016 Neighboring gene partner of NOB1 homolog Neighboring gene VISTA enhancer hs2040 Neighboring gene protein phosphatase 3 regulatory subunit B, alpha Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:68432700-68433200 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_59162 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_59182 Neighboring gene uncharacterized LOC107985892 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11586 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11587 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11588

    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. Monad, a WD40 repeat protein, promotes apoptosis induced by TNF-alpha. Saeki M, et al. Biochem Biophys Res Commun, 2006 Apr 7. PMID 16487927
    2. Molecular cloning of novel Monad binding protein containing tetratricopeptide repeat domains. Itsuki Y, et al. FEBS Lett, 2008 Jul 9. PMID 18538670
    3. Exosome-bound WD repeat protein Monad inhibits breast cancer cell invasion by degrading amphiregulin mRNA. Saeki M, et al. PLoS One, 2013. PMID 23844004, Free PMC Article
    4. Structural basis for the specific recognition of methylated histone H3 lysine 4 by the WD-40 protein WDR5. Han Z, et al. Mol Cell, 2006 Apr 7. PMID 16600877
    5. PIH1D1, a subunit of R2TP complex, inhibits doxorubicin-induced apoptosis. Inoue M, et al. Biochem Biophys Res Commun, 2010 Dec 17. PMID 21078300

    See all (55) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Exosome-bound WD repeat protein Monad inhibits breast cancer cell invasion by degrading amphiregulin mRNA.
      Title: Exosome-bound WD repeat protein Monad inhibits breast cancer cell invasion by degrading amphiregulin mRNA.
    2. Is part of an RNA polymerase II-associated complex with possible chaperone activity.
      Title: High-resolution mapping of the protein interaction network for the human transcription machinery and affinity purification of RNA polymerase II-associated complexes.
    3. Monad may function as a novel modulator of apoptosis pathway.
      Title: Monad, a WD40 repeat protein, promotes apoptosis induced by TNF-alpha.
    4. Monad could be involved in apoptosis induced by TNF-alpha
      Title: Monad, a WD40 repeat protein, promotes apoptosis induced by TNF-alpha.
    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
    Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
    EBI GWAS Catalog
    Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: PPP3R1

    Homology

    Clone Names

    • FLJ31741

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquitin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in axonemal dynein complex assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein stabilization NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of RPAP3/R2TP/prefoldin-like complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    located_in dynein axonemal particle ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    dynein axonemal assembly factor 10
    Names
    WD repeat domain 92
    WD repeat-containing protein 92
    WD repeat-containing protein Monad
    monad
    testicular secretory protein Li 67

    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_001256476.2 → NP_001243405.1  dynein axonemal assembly factor 10 isoform 2

      See identical proteins and their annotated locations for NP_001243405.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and coding region compared to variant 1. The resulting protein (isoform 2) has a shorter C-terminus compared to isoform 1.
      Source sequence(s)
      AC017083, BC014022
      Consensus CDS
      CCDS58712.1
      UniProtKB/TrEMBL
      Q6QHF3
      Related
      ENSP00000386746.1, ENST00000409164.1
      Conserved Domains (2) summary
      sd00039
      Location:21 → 64
      7WD40; WD40 repeat [structural motif]
      cl25539
      Location:75 → 287
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    2. NM_138458.4 → NP_612467.1  dynein axonemal assembly factor 10 isoform 1

      See identical proteins and their annotated locations for NP_612467.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer protein (isoform 1).
      Source sequence(s)
      AC017083, AK056303, BP271204
      Consensus CDS
      CCDS1884.1
      UniProtKB/Swiss-Prot
      Q96CR6, Q96MX6
      UniProtKB/TrEMBL
      A0A140VK67
      Related
      ENSP00000295121.6, ENST00000295121.11
      Conserved Domains (2) summary
      sd00039
      Location:21 → 64
      7WD40; WD40 repeat [structural motif]
      cl29593
      Location:21 → 348
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    RNA

    1. NR_046234.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) contains an alternate 5' exon. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC017083, BC036904
      Related
      ENST00000406245.6

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      68129805..68157527 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      68140355..68168077 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96MX6.1 GenPept UniProtKB/Swiss-Prot:Q96MX6

    Gene LinkOut

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

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