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

Gene ID: 388389, updated on 2-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
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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 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
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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

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