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    DNAAF3 dynein axonemal assembly factor 3 [ Homo sapiens (human) ]

    Gene ID: 352909, updated on 17-Sep-2024

    Summary

    Official Symbol
    DNAAF3provided by HGNC
    Official Full Name
    dynein axonemal assembly factor 3provided by HGNC
    Primary source
    HGNC:HGNC:30492
    See related
    Ensembl:ENSG00000167646 MIM:614566; AllianceGenome:HGNC:30492
    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
    PCD; DAB1; PF22; CILD2; C19orf51
    Summary
    The protein encoded by this gene is required for the assembly of axonemal inner and outer dynein arms and plays a role in assembling dynein complexes for transport into cilia. Defects in this gene are a cause of primary ciliary dyskinesia type 2 (CILD2). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
    Expression
    Biased expression in testis (RPKM 22.9), heart (RPKM 3.1) and 1 other tissue See more
    Orthologs
    NEW
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    Genomic context

    See DNAAF3 in Genome Data Viewer
    Location:
    19q13.42
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (55158661..55166722, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (58252720..58260781, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (55670029..55678090, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene troponin T1, slow skeletal type Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15077 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr19:55652829-55653333 Neighboring gene troponin I3, cardiac type Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55668291-55668878 Neighboring gene DNAAF3 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11016 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:55672120-55673046 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:55677361-55677592 Neighboring gene small nucleolar RNA U13 Neighboring gene synaptotagmin 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15078 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:55691190-55691602

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: TNNI3

    Clone Names

    • FLJ36139, FLJ40069

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in axonemal dynein complex assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in axonemal dynein complex assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in determination of left/right symmetry IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heart development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in motile cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in motile cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in dynein axonemal particle ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    dynein axonemal assembly factor 3
    Names
    UPF0470 protein C19orf51

    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_032759.1 RefSeqGene

      Range
      5110..13058
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001256714.1NP_001243643.1  dynein axonemal assembly factor 3 isoform 1

      See identical proteins and their annotated locations for NP_001243643.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AK093458, AK097388, AW182162, DB093464
      Consensus CDS
      CCDS58680.1
      UniProtKB/Swiss-Prot
      Q8N9W5
      UniProtKB/TrEMBL
      A0A0C4DH81
      Related
      ENSP00000436975.2, ENST00000527223.6
      Conserved Domains (2) summary
      pfam14737
      Location:114190
      DUF4470; Domain of unknown function (DUF4470)
      pfam14740
      Location:222507
      DUF4471; Domain of unknown function (DUF4471)
    2. NM_001256715.2NP_001243644.1  dynein axonemal assembly factor 3 isoform 3

      See identical proteins and their annotated locations for NP_001243644.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses two alternate splice sites, compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (3) with a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      BC016843, DB093464
      Consensus CDS
      CCDS59422.1
      UniProtKB/Swiss-Prot
      A8MUY0, E3W9A1, E9PAX5, Q6P4F6, Q8N9W0, Q8N9W5, Q96AR2
      Related
      ENSP00000432046.3, ENST00000524407.7
      Conserved Domains (2) summary
      pfam14737
      Location:18122
      DUF4470; Domain of unknown function (DUF4470)
      pfam14740
      Location:154443
      DUF4471; Domain of unknown function (DUF4471)
    3. NM_001256716.2NP_001243645.1  dynein axonemal assembly factor 3 isoform 4

      See identical proteins and their annotated locations for NP_001243645.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses two alternate splice sites, compared to variant 1. These differences cause translation initiation at an alternate downstream AUG and result in an isoform (4) with a shorter and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      BC016843, BC063449, DB093464
      Consensus CDS
      CCDS58679.1
      UniProtKB/Swiss-Prot
      Q8N9W5
      UniProtKB/TrEMBL
      A0A0C4DH50
      Related
      ENSP00000394343.1, ENST00000455045.5
      Conserved Domains (2) summary
      pfam14737
      Location:2368
      DUF4470; Domain of unknown function (DUF4470)
      pfam14740
      Location:100386
      DUF4471; Domain of unknown function (DUF4471)
    4. NM_178837.4NP_849159.2  dynein axonemal assembly factor 3 isoform 2

      See identical proteins and their annotated locations for NP_849159.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AK097388, AW182162, BC016843, DB093464
      Consensus CDS
      CCDS12918.2
      UniProtKB/Swiss-Prot
      Q8N9W5
      UniProtKB/TrEMBL
      A0A0A0MS19
      Related
      ENSP00000375600.5, ENST00000391720.8
      Conserved Domains (2) summary
      pfam14737
      Location:65169
      DUF4470; Domain of unknown function (DUF4470)
      pfam14740
      Location:201487
      DUF4471; Domain of unknown function (DUF4471)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      55158661..55166722 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      58252720..58260781 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001031802.1: Suppressed sequence

      Description
      NM_001031802.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.