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

Gene ID: 352909, updated on 13-Mar-2020

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
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

Genomic context

See DNAAF3 in Genome Data Viewer
Location:
19q13.42
Exon count:
12
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (55158661..55166722, complement)
105 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 troponin I3, cardiac type Neighboring gene uncharacterized LOC101930593 Neighboring gene synaptotagmin 5 Neighboring gene protein tyrosine phosphatase receptor type H

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: TNNI3

Homology

Clone Names

  • FLJ36139, FLJ40069

Gene Ontology Provided by GOA

Process Evidence Code Pubs
axonemal dynein complex assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
motile cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
dynein assembly factor 3, axonemal
Names
UPF0470 protein C19orf51

NCBI Reference Sequences (RefSeq)

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
    5001..13062
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001256714.1NP_001243643.1  dynein assembly factor 3, axonemal 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 assembly factor 3, axonemal 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
    Q8N9W5
    UniProtKB/TrEMBL
    A0A0C4DH78
    Related
    ENSP00000432046.2, ENST00000524407.6
    Conserved Domains (2) summary
    pfam14737
    Location:18122
    DUF4470; Domain of unknown function (DUF4470)
    pfam14740
    Location:154443
    DUF4471; Domain of unknown function (DUF4471)
  3. NM_001256716.1NP_001243645.1  dynein assembly factor 3, axonemal 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)
    AW182162, 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 assembly factor 3, axonemal 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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    55158661..55166722 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.
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