Display Settings:

Format

Send to:

Choose Destination

DNAAF1 dynein, axonemal, assembly factor 1 [ Homo sapiens (human) ]

Gene ID: 123872, updated on 11-Sep-2014
Official Symbol
DNAAF1provided by HGNC
Official Full Name
dynein, axonemal, assembly factor 1provided by HGNC
Primary source
HGNC:HGNC:30539
See related
Ensembl:ENSG00000154099; HPRD:14023; MIM:613190; Vega:OTTHUMG00000128517
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
ODA7; CILD13; LRRC50
Summary
The protein encoded by this gene is cilium-specific and is required for the stability of the ciliary architecture. It is involved in the regulation of microtubule-based cilia and actin-based brush border microvilli. Mutations in this gene are associated with primary ciliary dyskinesia-13.[provided by RefSeq, May 2010]
See DNAAF1 in Epigenomics, MapViewer
Location:
16q24.1
Exon count:
13
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 16 NC_000016.10 (84145260..84177918)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (84178865..84211524)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene polo-like kinase 1 (Drosophila) pseudogene Neighboring gene hydroxysteroid dehydrogenase like 1 Neighboring gene TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa Neighboring gene adenosine deaminase domain containing 2 Neighboring gene potassium voltage-gated channel, subfamily G, member 4

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ25330, DKFZp434A119

Gene Ontology Provided by GOA

Function Evidence Code Pubs
dynein binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
axonemal dynein complex assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
cilium morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
cilium movement IMP
Inferred from Mutant Phenotype
more info
PubMed 
determination of digestive tract left/right asymmetry IMP
Inferred from Mutant Phenotype
more info
PubMed 
determination of liver left/right asymmetry IMP
Inferred from Mutant Phenotype
more info
PubMed 
determination of pancreatic left/right asymmetry IMP
Inferred from Mutant Phenotype
more info
PubMed 
epithelial cilium movement involved in determination of left/right asymmetry IC
Inferred by Curator
more info
PubMed 
heart looping IMP
Inferred from Mutant Phenotype
more info
PubMed 
inner dynein arm assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
left/right pattern formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
lung development IMP
Inferred from Mutant Phenotype
more info
PubMed 
motile cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
outer dynein arm assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of cilium beat frequency IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
axoneme IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
 
cytoplasm NAS
Non-traceable Author Statement
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 
spindle pole IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
dynein assembly factor 1, axonemal
Names
dynein assembly factor 1, axonemal
leucine rich repeat containing 50
outer row dynein assembly 7 homolog
leucine-rich repeat-containing protein 50

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_021174.1 

    Range
    5001..37660
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_178452.4NP_848547.4  dynein assembly factor 1, axonemal

    See proteins identical to NP_848547.4

    Status: REVIEWED

    Source sequence(s)
    AL833327, BC024009, BX648657, DA349893
    Consensus CDS
    CCDS10943.2
    UniProtKB/Swiss-Prot
    Q8NEP3
    Related
    ENSP00000367815, OTTHUMP00000158639, ENST00000378553, OTTHUMT00000250328
    Conserved Domains (3) summary
    cd00116
    Location:122257
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    pfam12799
    Location:151192
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:151207
    LRR_8; Leucine rich repeat

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000016.10 

    Range
    84145260..84177918
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006721129.1XP_006721192.1  

    Conserved Domains (3) summary
    cd00116
    Location:122257
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    pfam12799
    Location:151192
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:151207
    LRR_8; Leucine rich repeat
  2. XM_006721130.1XP_006721193.1  

    Conserved Domains (2) summary
    PTZ00121
    Location:35136
    PTZ00121; MAEBL; Provisional
    PHA03169
    Location:76240
    PHA03169; hypothetical protein; Provisional

Alternate HuRef

Genomic

  1. AC_000148.1 

    Range
    69932647..69965301
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018927.2 

    Range
    85590244..85622911
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)