Format

Send to:

Choose Destination

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

Gene ID: 123872, updated on 14-Jun-2020

Summary

Official Symbol
DNAAF1provided by HGNC
Official Full Name
dynein axonemal assembly factor 1provided by HGNC
Primary source
HGNC:HGNC:30539
See related
Ensembl:ENSG00000154099 MIM:613190
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
swt; DAU1; 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Expression
Broad expression in testis (RPKM 17.0), lung (RPKM 5.3) and 20 other tissues See more
Orthologs

Genomic context

See DNAAF1 in Genome Data Viewer
Location:
16q24.1
Exon count:
14
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (84145266..84178761)
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 pseudogene Neighboring gene hydroxysteroid dehydrogenase like 1 Neighboring gene TATA-box binding protein associated factor, RNA polymerase I subunit C Neighboring gene Sharpr-MPRA regulatory region 3417 Neighboring gene splicing factor proline/glutamine-rich Neighboring gene adenosine deaminase domain containing 2

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ25330, DKFZp434A119

Gene Ontology Provided by GOA

Function Evidence Code Pubs
dynein complex binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dynein complex 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 assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cilium assembly 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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
axoneme IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm NAS
Non-traceable Author Statement
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
extracellular region IEA
Inferred from Electronic Annotation
more info
 
nuclear speck 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
 

General protein information

Preferred Names
dynein assembly factor 1, axonemal
Names
leucine-rich repeat-containing protein 50
outer row dynein assembly 7 homolog
testicular tissue protein Li 110

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_021174.1 RefSeqGene

    Range
    5049..37660
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001318756.1NP_001305685.1  dynein assembly factor 1, axonemal isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and uses a downstream start codon, compared to variant 1. It encodes isoform 2, which is shorter at the N-terminus, compared to isoform 1.
    Source sequence(s)
    AA994895, AK295990, AL833327, HY196988, HY223243, N47170
    UniProtKB/Swiss-Prot
    Q8NEP3
    Related
    ENST00000563818.5
    Conserved Domains (1) summary
    PHA03169
    Location:50256
    PHA03169; hypothetical protein; Provisional
  2. NM_178452.6NP_848547.4  dynein assembly factor 1, axonemal isoform 1

    See identical proteins and their annotated locations for NP_848547.4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AA994895, AK295990, AL833327, BC024009, DA349893, HY196988, HY223243, N47170
    Consensus CDS
    CCDS10943.2
    UniProtKB/Swiss-Prot
    Q8NEP3
    UniProtKB/TrEMBL
    A0A140VJN4
    Related
    ENSP00000367815.5, ENST00000378553.10
    Conserved Domains (3) summary
    sd00033
    Location:111130
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12799
    Location:151192
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:151207
    LRR_8; Leucine rich repeat

RefSeqs of Annotated Genomes: Homo sapiens Updated 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_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    84145266..84178761
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017022919.1XP_016878408.1  dynein assembly factor 1, axonemal isoform X6

  2. XM_011522854.3XP_011521156.1  dynein assembly factor 1, axonemal isoform X3

    Conserved Domains (3) summary
    sd00033
    Location:111130
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12799
    Location:151192
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:151207
    LRR_8; Leucine rich repeat
  3. XM_006721129.3XP_006721192.1  dynein assembly factor 1, axonemal isoform X5

    Conserved Domains (3) summary
    sd00033
    Location:111130
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12799
    Location:151192
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:151207
    LRR_8; Leucine rich repeat
  4. XM_011522853.3XP_011521155.1  dynein assembly factor 1, axonemal isoform X1

    Conserved Domains (3) summary
    sd00033
    Location:111130
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12799
    Location:151192
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:151207
    LRR_8; Leucine rich repeat
  5. XM_011522855.3XP_011521157.1  dynein assembly factor 1, axonemal isoform X4

    Conserved Domains (3) summary
    sd00033
    Location:111130
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12799
    Location:151192
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:151207
    LRR_8; Leucine rich repeat
  6. XM_017022918.2XP_016878407.1  dynein assembly factor 1, axonemal isoform X2

  7. XM_011522857.3XP_011521159.1  dynein assembly factor 1, axonemal isoform X7

    Conserved Domains (3) summary
    sd00033
    Location:111130
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12799
    Location:151192
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:151207
    LRR_8; Leucine rich repeat
  8. XM_011522858.3XP_011521160.1  dynein assembly factor 1, axonemal isoform X8

    Conserved Domains (4) summary
    PHA03169
    Location:302508
    PHA03169; hypothetical protein; Provisional
    sd00033
    Location:111130
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12799
    Location:151192
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:151207
    LRR_8; Leucine rich repeat
  9. XM_017022920.2XP_016878409.1  dynein assembly factor 1, axonemal isoform X9

  10. XM_017022921.2XP_016878410.1  dynein assembly factor 1, axonemal isoform X10

  11. XM_017022922.2XP_016878411.1  dynein assembly factor 1, axonemal isoform X11

RNA

  1. XR_001751829.2 RNA Sequence

  2. XR_001751830.2 RNA Sequence

  3. XR_001751831.2 RNA Sequence

  4. XR_001751832.1 RNA Sequence

    Related
    ENST00000570298.5
Support Center