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

    Gene ID: 123872, updated on 12-Nov-2017
    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; 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
    swt; 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
    Location:
    16q24.1
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 16 NC_000016.10 (84145260..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 adenosine deaminase domain containing 2 Neighboring gene potassium voltage-gated channel modifier subfamily G member 4

    • 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 Jun 15 11:32:44 2016

    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 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 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 NAS
    Non-traceable Author Statement
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    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
     
    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

    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
      5001..37662
      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
      Conserved Domains (1) summary
      PHA03169
      Location:50256
      PHA03169; hypothetical protein; Provisional
    2. NM_178452.5NP_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, OTTHUMP00000158639, ENST00000378553.9, OTTHUMT00000250328
      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 Annotation Release 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p7 Primary Assembly

      Range
      84145260..84178761
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011522854.2XP_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
    2. XM_006721129.2XP_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
    3. XM_011522853.2XP_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
    4. XM_011522855.2XP_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
    5. XM_017022918.1XP_016878407.1  dynein assembly factor 1, axonemal isoform X2

    6. XM_011522857.2XP_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
    7. XM_011522858.2XP_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
    8. XM_017022919.1XP_016878408.1  dynein assembly factor 1, axonemal isoform X6

    9. XM_017022920.1XP_016878409.1  dynein assembly factor 1, axonemal isoform X9

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

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

    RNA

    1. XR_001751829.1 RNA Sequence

    2. XR_001751830.1 RNA Sequence

    3. XR_001751831.1 RNA Sequence

    4. XR_001751832.1 RNA Sequence

      Related
      ENST00000570298.5

    Alternate CHM1_1.1

    Genomic

    1. NC_018927.2 Alternate CHM1_1.1

      Range
      85590244..85622913
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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