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Dnaaf5 dynein, axonemal assembly factor 5 [ Mus musculus (house mouse) ]

Gene ID: 433956, updated on 2-Nov-2024

Summary

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Official Symbol
Dnaaf5provided by MGI
Official Full Name
dynein, axonemal assembly factor 5provided by MGI
Primary source
MGI:MGI:3616079
See related
Ensembl:ENSMUSG00000025857 AllianceGenome:MGI:3616079
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Heatr2
Summary
Predicted to enable dynein intermediate chain binding activity. Predicted to be involved in cilium movement; inner dynein arm assembly; and outer dynein arm assembly. Located in cytoplasm. Is expressed in several structures, including genitourinary system; heart; liver; lung; and spleen. Used to study male infertility and primary ciliary dyskinesia. Human ortholog(s) of this gene implicated in primary ciliary dyskinesia 18. Orthologous to human DNAAF5 (dynein axonemal assembly factor 5). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in adrenal adult (RPKM 20.8), ovary adult (RPKM 20.2) and 28 other tissues See more
Orthologs
human all
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Genomic context

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See Dnaaf5 in Genome Data Viewer
Location:
5 G2; 5 78.02 cM
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (139135888..139172265)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (139150133..139186510)

Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 38726 Neighboring gene RIKEN cDNA 6330403L08 gene Neighboring gene STARR-seq mESC enhancer starr_14679 Neighboring gene platelet derived growth factor, alpha Neighboring gene protein kinase, cAMP dependent regulatory, type I beta Neighboring gene STARR-positive B cell enhancer ABC_E1695 Neighboring gene STARR-seq mESC enhancer starr_14685 Neighboring gene STARR-positive B cell enhancer ABC_E10360 Neighboring gene STARR-seq mESC enhancer starr_14686 Neighboring gene STARR-seq mESC enhancer starr_14687 Neighboring gene Sad1 and UNC84 domain containing 1 Neighboring gene golgi to ER traffic protein 4

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. The effect of Dnaaf5 gene dosage on primary ciliary dyskinesia phenotypes. Horani A, et al. JCI Insight, 2023 Jun 8. PMID 37104040, Free PMC Article
  2. HEATR2 plays a conserved role in assembly of the ciliary motile apparatus. Diggle CP, et al. PLoS Genet, 2014 Sep. PMID 25232951, Free PMC Article
  3. A null allele of Dnaaf2 displays embryonic lethality and mimics human ciliary dyskinesia. Cheong A, et al. Hum Mol Genet, 2019 Aug 15. PMID 31107948, Free PMC Article
  4. USP10 deubiquitinates Tau, mediating its aggregation. Wei Z, et al. Cell Death Dis, 2022 Aug 20. PMID 35987808, Free PMC Article
  5. Functional genomic landscape of cancer-intrinsic evasion of killing by T cells. Lawson KA, et al. Nature, 2020 Oct. PMID 32968282, Free PMC Article

See all (17) citations in PubMed

GeneRIFs: Gene References Into Functions

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC60818

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables dynein intermediate chain binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables dynein intermediate chain binding IEA
Inferred from Electronic Annotation
more info
  
enables dynein intermediate chain binding ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
involved_in cilium movement IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cilium movement ISO
Inferred from Sequence Orthology
more info
  
involved_in cilium movement ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in inner dynein arm assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in inner dynein arm assembly ISO
Inferred from Sequence Orthology
more info
  
involved_in inner dynein arm assembly ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in outer dynein arm assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in outer dynein arm assembly ISO
Inferred from Sequence Orthology
more info
  
involved_in outer dynein arm assembly ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
  
located_in dynein axonemal particle ISS
Inferred from Sequence or Structural Similarity
more info
  
NOT located_in motile cilium IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
dynein axonemal assembly factor 5
Names
HEAT repeat-containing protein 2
dynein assembly factor 5, axonemal

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_001081265.2 → NP_001074734.1  dynein axonemal assembly factor 5 isoform 1

    See identical proteins and their annotated locations for NP_001074734.1

    Status: VALIDATED

    Source sequence(s)
    AC125065
    Consensus CDS
    CCDS39349.1
    UniProtKB/Swiss-Prot
    B9EJR8
    Related
    ENSMUSP00000026975.7, ENSMUST00000026975.11
    Conserved Domains (2) summary
    pfam13830
    Location:41 → 198
    DUF4192; Domain of unknown function (DUF4192)
    sd00044
    Location:165 → 193
    HEAT; HEAT repeat [structural motif]

  2. NM_001363485.1 → NP_001350414.1  dynein axonemal assembly factor 5 isoform 2

    Status: VALIDATED

    Source sequence(s)
    BC158066, BG228650, CK627764
    Consensus CDS
    CCDS90005.1
    UniProtKB/TrEMBL
    B2RY24
    Related
    ENSMUSP00000142924.2, ENSMUST00000196441.2
    Conserved Domains (1) summary
    sd00044
    Location:405 → 433
    HEAT; HEAT repeat [structural motif]

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000071.7 Reference GRCm39 C57BL/6J

    Range
    139135888..139172265
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_003955669.1 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
B9EJR8.1 GenPept UniProtKB/Swiss-Prot:B9EJR8

Gene LinkOut

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