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

Gene ID: 116143, updated on 5-Mar-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
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Genomic context

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Location:
2p14
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (68129805..68157527, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (68140355..68168077, complement)
105.20220307 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
  • 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. PIH1D1, a subunit of R2TP complex, inhibits doxorubicin-induced apoptosis. Inoue M, et al. Biochem Biophys Res Commun, 2010 Dec 17. PMID 21078300
  5. 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

See all (52) 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_2023_10

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

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