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    DNAAF19 dynein axonemal assembly factor 19 [ Homo sapiens (human) ]

    Gene ID: 388389, updated on 27-Nov-2024

    Summary

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    Official Symbol
    DNAAF19provided by HGNC
    Official Full Name
    dynein axonemal assembly factor 19provided by HGNC
    Primary source
    HGNC:HGNC:32700
    See related
    Ensembl:ENSG00000167131 MIM:614677; AllianceGenome:HGNC:32700
    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
    SMH; PR46b; CILD17; CCDC103
    Summary
    Enables protein homodimerization activity. Involved in axonemal dynein complex assembly; cilium movement; and determination of left/right symmetry. Predicted to be located in axoneme. Predicted to be part of outer dynein arm. Implicated in primary ciliary dyskinesia 17. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in testis (RPKM 12.6), brain (RPKM 2.7) and 7 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DNAAF19 in Genome Data Viewer
    Location:
    17q21.31
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (44899729..44905390)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (45753613..45759276)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (42977097..42982758)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene HIG1 hypoxia inducible domain family member 1B Neighboring gene elongation factor Tu GTP binding domain containing 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:42943931-42944112 Neighboring gene RNA, 7SL, cytoplasmic 405, pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:42969539-42970081 Neighboring gene family with sequence similarity 187 member A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12266 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8603 Neighboring gene glial fibrillary acidic protein Neighboring gene uncharacterized LOC105371793 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:42997401-42997900 Neighboring gene kinesin family member 18B Neighboring gene microRNA 6783

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. A recurrent homozygous missense mutation in CCDC103 causes asthenoteratozoospermia due to disorganized dynein arms. Zubair M, et al. Asian J Androl, 2022 May-Jun. PMID 35259782, Free PMC Article
    2. The outer dynein arm assembly factor CCDC103 forms molecular scaffolds through multiple self-interaction sites. King SM, et al. Cytoskeleton (Hoboken), 2020 Jan. PMID 31858719, Free PMC Article
    3. Characterization of CCDC103 expression profiles: further insights in primary ciliary dyskinesia and in human reproduction. Pereira R, et al. J Assist Reprod Genet, 2019 Aug. PMID 31273583, Free PMC Article
    4. High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations. Shoemark A, et al. Thorax, 2018 Feb. PMID 28790179, Free PMC Article
    5. A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder. Casey JP, et al. BMC Med Genet, 2015 Jun 30. PMID 26123568, Free PMC Article

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A recurrent homozygous missense mutation in CCDC103 causes asthenoteratozoospermia due to disorganized dynein arms.
      Title: A recurrent homozygous missense mutation in CCDC103 causes asthenoteratozoospermia due to disorganized dynein arms.
    2. The outer dynein arm assembly factor CCDC103 forms molecular scaffolds through multiple self-interaction sites.
      Title: The outer dynein arm assembly factor CCDC103 forms molecular scaffolds through multiple self-interaction sites.
    3. Pathogenic variants in CCDC103 are associated with primary ciliary dyskinesia.
      Title: Characterization of CCDC103 expression profiles: further insights in primary ciliary dyskinesia and in human reproduction.
    4. The CCDC103 p.His154Pro mutation is more prevalent than previously thought in the South Asian community in the UK and causes primary ciliary dyskinesia that can be difficult to diagnose using pathology-based clinical tests.
      Title: High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations.
    5. A variable and complex phenotype caused by the co-inheritance of a single gene mutation in CCDC103 and a microduplication at 17q12, both on chromosome 17.
      Title: A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder.
    6. These results identify Ccdc103 as a dynein arm attachment factor that causes primary ciliary dyskinesia when mutated.
      Title: CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Primary ciliary dyskinesia 17
    MedGen: C3542550 OMIM: 614679 GeneReviews: Primary Ciliary Dyskinesia
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ13094, FLJ34211

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in axonemal dynein complex assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cilium movement IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in determination of digestive tract left/right asymmetry IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in determination of left/right symmetry IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in epithelial cilium movement involved in determination of left/right asymmetry IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in epithelial cilium movement involved in extracellular fluid movement IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in heart looping IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in inner dynein arm assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in inner dynein arm assembly IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in outer dynein arm assembly IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in axoneme ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in motile cilium IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of outer dynein arm IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    coiled-coil domain-containing protein 103
    Names
    coiled-coil domain containing 103

    NCBI Reference Sequences (RefSeq)

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    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_032792.1 RefSeqGene

      Range
      5018..10679
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001258395.2 → NP_001245324.1  coiled-coil domain-containing protein 103 isoform 1

      See identical proteins and their annotated locations for NP_001245324.1

      Status: REVIEWED

      Source sequence(s)
      AC015936, BQ448043, DA185416
      Consensus CDS
      CCDS11490.1
      UniProtKB/Swiss-Prot
      A8K145, B8ZZU0, Q8IW40
      UniProtKB/TrEMBL
      F8W6J8
      Related
      ENSP00000387252.1, ENST00000410006.6
      Conserved Domains (2) summary
      pfam13877
      Location:98 → 186
      RPAP3_C; Potential Monad-binding region of RPAP3
      pfam15867
      Location:7 → 74
      Dynein_attach_N; Dynein attachment factor N-terminus

    2. NM_001258396.2 → NP_001245325.1  coiled-coil domain-containing protein 103 isoform 1

      See identical proteins and their annotated locations for NP_001245325.1

      Status: REVIEWED

      Source sequence(s)
      AC015936, BQ448043, DB085134
      Consensus CDS
      CCDS11490.1
      UniProtKB/Swiss-Prot
      A8K145, B8ZZU0, Q8IW40
      UniProtKB/TrEMBL
      F8W6J8
      Related
      ENSP00000350420.2, ENST00000357776.6
      Conserved Domains (2) summary
      pfam13877
      Location:98 → 186
      RPAP3_C; Potential Monad-binding region of RPAP3
      pfam15867
      Location:7 → 74
      Dynein_attach_N; Dynein attachment factor N-terminus

    3. NM_001258397.3 → NP_001245326.1  coiled-coil domain-containing protein 103 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC015936
      Consensus CDS
      CCDS58554.1
      UniProtKB/Swiss-Prot
      Q8IW40
      Related
      ENSP00000386640.1, ENST00000410027.5
      Conserved Domains (1) summary
      pfam15867
      Location:7 → 74
      Dynein_attach_N; Dynein attachment factor N-terminus

    4. NM_001258398.3 → NP_001245327.1  coiled-coil domain-containing protein 103 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC015936
      Conserved Domains (1) summary
      pfam15867
      Location:7 → 74
      Dynein_attach_N; Dynein attachment factor N-terminus

    5. NM_001258399.2 → NP_001245328.1  coiled-coil domain-containing protein 103 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC015936, BQ448043, DB024698
      Conserved Domains (1) summary
      pfam15867
      Location:7 → 74
      Dynein_attach_N; Dynein attachment factor N-terminus

    6. NM_213607.3 → NP_998772.1  coiled-coil domain-containing protein 103 isoform 1

      See identical proteins and their annotated locations for NP_998772.1

      Status: REVIEWED

      Source sequence(s)
      AC015936, AK023156, AK289760, BQ448043, DA185416
      Consensus CDS
      CCDS11490.1
      UniProtKB/Swiss-Prot
      A8K145, B8ZZU0, Q8IW40
      UniProtKB/TrEMBL
      F8W6J8
      Related
      ENSP00000391692.2, ENST00000417826.3
      Conserved Domains (2) summary
      pfam13877
      Location:98 → 186
      RPAP3_C; Potential Monad-binding region of RPAP3
      pfam15867
      Location:7 → 74
      Dynein_attach_N; Dynein attachment factor N-terminus

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      44899729..44905390
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      45753613..45759276
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IW40.1 GenPept UniProtKB/Swiss-Prot:Q8IW40

    Gene LinkOut

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