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    DNAAF6 dynein axonemal assembly factor 6 [ Homo sapiens (human) ]

    Gene ID: 139212, updated on 17-Sep-2024

    Summary

    Official Symbol
    DNAAF6provided by HGNC
    Official Full Name
    dynein axonemal assembly factor 6provided by HGNC
    Primary source
    HGNC:HGNC:28570
    See related
    Ensembl:ENSG00000080572 MIM:300933; AllianceGenome:HGNC:28570
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CILD36; PIH1D3; CXorf41; NYSAR97; TWISTER
    Summary
    Enables dynein intermediate chain binding activity. Involved in flagellated sperm motility; inner dynein arm assembly; and outer dynein arm assembly. Located in trans-Golgi network. Implicated in primary ciliary dyskinesia 36. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Restricted expression toward testis (RPKM 2.7) See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See DNAAF6 in Genome Data Viewer
    Location:
    Xq22.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (107206611..107244247)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (105643020..105680647)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (106449841..106487477)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene RNA binding motif protein 41 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29831 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29832 Neighboring gene nucleoporin 62 C-terminal like Neighboring gene GTF3C6 pseudogene 2 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:106399301-106399461 Neighboring gene MYCL pseudogene 1 Neighboring gene DnaJ heat shock protein family (Hsp40) member A1 pseudogene 3

    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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Clone Names

    • MGC35261

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables dynein intermediate chain binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables dynein intermediate chain binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-folding chaperone binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    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 axonemal dynein complex assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cilium movement IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in flagellated sperm motility IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in flagellated sperm motility IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in flagellated sperm motility ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in inner dynein arm assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in outer dynein arm assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in trans-Golgi network IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    dynein axonemal assembly factor 6
    Names
    PIH1 domain containing 3
    PIH1 domain-containing protein 3
    dynein assembly factor 6, axonemal
    protein PIH1D3
    sarcoma antigen NY-SAR-97

    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_016377.1 RefSeqGene

      Range
      4980..42616
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001169154.2NP_001162625.1  dynein axonemal assembly factor 6

      See identical proteins and their annotated locations for NP_001162625.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AI147427, AL136112, BC033510
      Consensus CDS
      CCDS14528.1
      UniProtKB/Swiss-Prot
      D3DUX5, Q86WE1, Q9NQM4
      Related
      ENSP00000441930.1, ENST00000535523.6
      Conserved Domains (1) summary
      cl00175
      Location:110202
      alpha-crystallin-Hsps_p23-like; alpha-crystallin domain (ACD) found in alpha-crystallin-type small heat shock proteins, and a similar domain found in p23 (a cochaperone for Hsp90) and in other p23-like proteins.
    2. NM_173494.2NP_775765.1  dynein axonemal assembly factor 6

      See identical proteins and their annotated locations for NP_775765.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AL136112, BC033510
      Consensus CDS
      CCDS14528.1
      UniProtKB/Swiss-Prot
      D3DUX5, Q86WE1, Q9NQM4
      Related
      ENSP00000361531.3, ENST00000372453.8
      Conserved Domains (1) summary
      cl00175
      Location:110202
      alpha-crystallin-Hsps_p23-like; alpha-crystallin domain (ACD) found in alpha-crystallin-type small heat shock proteins, and a similar domain found in p23 (a cochaperone for Hsp90) and in other p23-like proteins.

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      107206611..107244247
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      105643020..105680647
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)