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DNAAF5 dynein axonemal assembly factor 5 [ Homo sapiens (human) ]

Gene ID: 54919, updated on 17-Jun-2019

Summary

Official Symbol
DNAAF5provided by HGNC
Official Full Name
dynein axonemal assembly factor 5provided by HGNC
Primary source
HGNC:HGNC:26013
See related
Ensembl:ENSG00000164818 MIM:614864
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CILD18; HEATR2
Summary
The protein encoded by this gene is essential for the preassembly or stability of axonemal dynein arms, and is found only in organisms with motile cilia and flagella. Mutations in this gene are associated with primary ciliary dyskinesia-18, a disorder characterized by abnormalities of motile cilia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2013]
Expression
Ubiquitous expression in testis (RPKM 5.5), colon (RPKM 5.1) and 25 other tissues See more
Orthologs

Genomic context

See DNAAF5 in Genome Data Viewer
Location:
7p22.3
Exon count:
14
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (726692..786479)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (766338..826116)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene protein kinase cAMP-dependent type I regulatory subunit beta Neighboring gene uncharacterized LOC101926963 Neighboring gene uncharacterized LOC105375119 Neighboring gene Sad1 and UNC84 domain containing 1 Neighboring gene guided entry of tail-anchored proteins factor 4

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ20397, FLJ25564, FLJ31671, FLJ39381

Gene Ontology Provided by GOA

Function Evidence Code Pubs
dynein intermediate chain binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dynein intermediate chain binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cilium movement IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cilium movement IMP
Inferred from Mutant Phenotype
more info
PubMed 
inner dynein arm assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
inner dynein arm assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
outer dynein arm assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
outer dynein arm assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
NOT motile cilium IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_033137.1 RefSeqGene

    Range
    5001..64779
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_017802.4NP_060272.3  dynein assembly factor 5, axonemal

    See identical proteins and their annotated locations for NP_060272.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the protein-coding transcript.
    Source sequence(s)
    AC144411, AK056233, AK098430, BC047240, BM743055, CB238804
    Consensus CDS
    CCDS34580.1
    UniProtKB/Swiss-Prot
    Q86Y56
    UniProtKB/TrEMBL
    B3KPE2
    Related
    ENSP00000297440.6, ENST00000297440.11
    Conserved Domains (1) summary
    sd00044
    Location:246274
    HEAT; HEAT repeat [structural motif]

RNA

  1. NR_075098.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate acceptor splice site at an internal exon compared to variant 1. It is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 1, renders this transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC144411, AK056233, AK098430, BC047240, CB238804

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    726692..786479
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024446813.1XP_024302581.1  dynein assembly factor 5, axonemal isoform X1

    Conserved Domains (1) summary
    sd00044
    Location:246274
    HEAT; HEAT repeat [structural motif]
  2. XM_024446814.1XP_024302582.1  dynein assembly factor 5, axonemal isoform X2

    Related
    ENSP00000403165.1, ENST00000440747.5
    Conserved Domains (1) summary
    sd00044
    Location:634
    HEAT; HEAT repeat [structural motif]
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