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

    Gene ID: 123872, updated on 5-Mar-2024

    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; AllianceGenome:HGNC:30539
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    16q24.1
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (84145308..84177920)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (90211391..90243993)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (84178913..84211526)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene polo like kinase 1 pseudogene Neighboring gene hydroxysteroid dehydrogenase like 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:84169151-84169748 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:84170943-84171538 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7778 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7779 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7780 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:84220503-84221003 Neighboring gene TATA-box binding protein associated factor, RNA polymerase I subunit C Neighboring gene Sharpr-MPRA regulatory region 3417 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:84227912-84229111 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:84229267-84229889 Neighboring gene splicing factor proline/glutamine-rich Neighboring gene adenosine deaminase domain containing 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:84247937-84248438 Neighboring gene potassium voltage-gated channel modifier subfamily G member 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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ25330, DKFZp434A119

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables dynein complex binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables dynein complex binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in axoneme IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in axoneme IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    located_in spindle pole IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_021174.2 RefSeqGene

      Range
      5002..37612
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001318756.1NP_001305685.1  dynein axonemal assembly factor 1 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 axonemal assembly factor 1 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
      B4DJA3, Q69YI8, Q69YJ0, Q69YW5, Q8NEP3, Q96LP3, Q96MB6
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      84145308..84177920
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011522854.4XP_011521156.1  dynein axonemal assembly factor 1 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_011522853.4XP_011521155.1  dynein axonemal assembly factor 1 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
    3. XM_011522855.4XP_011521157.1  dynein axonemal assembly factor 1 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
    4. XM_006721129.4XP_006721192.1  dynein axonemal assembly factor 1 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
    5. XM_017022918.3XP_016878407.1  dynein axonemal assembly factor 1 isoform X2

    6. XM_047433589.1XP_047289545.1  dynein axonemal assembly factor 1 isoform X6

    7. XM_047433590.1XP_047289546.1  dynein axonemal assembly factor 1 isoform X7

    8. XM_011522857.4XP_011521159.1  dynein axonemal assembly factor 1 isoform X8

      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
    9. XM_011522858.4XP_011521160.1  dynein axonemal assembly factor 1 isoform X9

      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
    10. XM_017022919.2XP_016878408.1  dynein axonemal assembly factor 1 isoform X10

    11. XM_017022920.3XP_016878409.1  dynein axonemal assembly factor 1 isoform X11

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      90211391..90243993
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054379544.1XP_054235519.1  dynein axonemal assembly factor 1 isoform X3

    2. XM_054379542.1XP_054235517.1  dynein axonemal assembly factor 1 isoform X1

    3. XM_054379545.1XP_054235520.1  dynein axonemal assembly factor 1 isoform X4

    4. XM_054379546.1XP_054235521.1  dynein axonemal assembly factor 1 isoform X5

    5. XM_054379543.1XP_054235518.1  dynein axonemal assembly factor 1 isoform X2

    6. XM_054379547.1XP_054235522.1  dynein axonemal assembly factor 1 isoform X6

    7. XM_054379548.1XP_054235523.1  dynein axonemal assembly factor 1 isoform X7

    8. XM_054379549.1XP_054235524.1  dynein axonemal assembly factor 1 isoform X8

    9. XM_054379550.1XP_054235525.1  dynein axonemal assembly factor 1 isoform X9

    10. XM_054379551.1XP_054235526.1  dynein axonemal assembly factor 1 isoform X10

    11. XM_054379552.1XP_054235527.1  dynein axonemal assembly factor 1 isoform X11