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

Gene ID: 116143, updated on 23-Nov-2021

Summary

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
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

See DNAAF10 in Genome Data Viewer
Location:
2p14
Exon count:
8
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (68129805..68157527, complement)
105.20201022 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 peptidylprolyl isomerase A pseudogene 64 Neighboring gene partner of NOB1 homolog Neighboring gene protein phosphatase 3 regulatory subunit B, alpha Neighboring gene VISTA enhancer hs2040

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
GeneReviews: Not available
Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
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
 
Component Evidence Code Pubs
located_in dynein axonemal particle ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

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_001256476.2NP_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/Swiss-Prot
    Q96MX6
    Related
    ENSP00000386746.1, ENST00000409164.1
    Conserved Domains (2) summary
    sd00039
    Location:2164
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:75287
    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_138458.4NP_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
    Q96MX6
    UniProtKB/TrEMBL
    A0A140VK67
    Related
    ENSP00000295121.6, ENST00000295121.11
    Conserved Domains (2) summary
    sd00039
    Location:2164
    7WD40; WD40 repeat [structural motif]
    cl29593
    Location:21348
    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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

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