Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	123872
Gene name Gene Name - the full gene name approved by the HGNC.	Dynein axonemal assembly factor 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	DNAAF1
Synonyms (NCBI Gene) Gene synonyms aliases	CILD13, DAU1, LRRC50, ODA7, swt
Chromosome Chromosome number	16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	16q24.1
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene is cilium-specific and is required for the stability of the ciliary architecture. It is involved in the regulation of microtubule-based cilia and actin-based brush border microvilli. Mutations in this gene are associated w

Show/Hide all(20)

SNP ID	Visualize variation	Clinical significance	Consequence
rs139519641	G>A	Likely-pathogenic, uncertain-significance, benign	Non coding transcript variant, coding sequence variant, splice donor variant, missense variant
rs139566676	C>A,T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant, genic upstream transcript variant
rs144018942	C>A,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant, genic upstream transcript variant
rs267607225	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs267607226	C>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs267607227	T>C,G	Pathogenic	Non coding transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs397515339	->C	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs745495583	GGAGATGGAGAGCCAGAGGGGAC>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs748869874	C>G,T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs758650222	A>-	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs761851970	C>G	Likely-pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs762843285	A>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs764066045	A>C	Pathogenic	Splice acceptor variant, non coding transcript variant
rs786205052	->G	Pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1060502829	C>T	Pathogenic	Non coding transcript variant, genic upstream transcript variant, stop gained, 5 prime UTR variant, coding sequence variant
rs1233603821	AGGGAGC>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1489377964	A>T	Pathogenic	Downstream transcript variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant, stop gained
rs1555519999	AT>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant
rs1555526915	->A	Pathogenic	Downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs1555527001	T>-	Pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant

Show/Hide all(26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000922	Component	Spindle pole	IEA
GO:0001947	Process	Heart looping	IMP	19944400, 19944405
GO:0003341	Process	Cilium movement	IMP	19944405
GO:0003356	Process	Regulation of cilium beat frequency	IMP	19944400
GO:0005576	Component	Extracellular region	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	NAS	19944405
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IEA
GO:0005930	Component	Axoneme	IBA
GO:0005930	Component	Axoneme	IDA	18385425
GO:0030324	Process	Lung development	IMP	19944405
GO:0035082	Process	Axoneme assembly	IBA
GO:0035469	Process	Determination of pancreatic left/right asymmetry	IMP	19944405
GO:0036158	Process	Outer dynein arm assembly	IMP	19944400
GO:0036159	Process	Inner dynein arm assembly	IMP	19944400
GO:0042995	Component	Cell projection	IEA
GO:0044458	Process	Motile cilium assembly	IMP	19944405
GO:0060271	Process	Cilium assembly	IMP	18385425
GO:0060287	Process	Epithelial cilium movement involved in determination of left/right asymmetry	IC	19944405
GO:0060972	Process	Left/right pattern formation	IMP	19944400
GO:0070286	Process	Axonemal dynein complex assembly	IMP	19944400, 19944405
GO:0070840	Function	Dynein complex binding	IBA
GO:0070840	Function	Dynein complex binding	IMP	18385425
GO:0071907	Process	Determination of digestive tract left/right asymmetry	IMP	19944405
GO:0071910	Process	Determination of liver left/right asymmetry	IMP	19944405

MIM	HGNC	e!Ensembl
613190	30539	ENSG00000154099

Protein

UniProt ID

Q8NEP3

Protein name

Dynein axonemal assembly factor 1 (Leucine-rich repeat-containing protein 50)

Protein function

Cilium-specific protein required for the stability of the ciliary architecture. Plays a role in cytoplasmic preassembly of dynein arms. Involved in regulation of microtubule-based cilia and actin-based brush border microvilli. {ECO:0000269|PubMe

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF14580	LRR_9	172 → 306		Repeat

Tissue specificity

TISSUE SPECIFICITY: Mainly expressed in trachea and testis. {ECO:0000269|PubMed:19944405}.

Sequence

MHPEPSEPATGGAAELDCAQEPGVEESAGDHGSAGRGGCKEEINDPKEICVGSSDTSYHS
QQKQSGDNGSGGHFAHPREDREDRGPRMTKSSLQKLCKQHKLYITPALNDTLYLHFKGFD
RIENLEEYTGLRCLWLQSNGIQKIENLEAQTELRCLFLQMNLLRKIENLEPLQKLDALNL
SNNYIKTIENLSCLPVLNTLQMAHNHLETVEDIQHLQECLRLCVLDLSHNKLSDPEILSI
LESMPDLRVLNLMGNPVIRQIPNYRRTVTVRLKHLTYLDDRPVFPKDRACAEAWARGGYA
AEKEERQQWESRERKKITDSIEALAMIKQRAEERKRQRESQERGEMTSSDDGENVPASAE
GKEEPPGDRETRQKMELFVKESFEAKDELCPEKPSGEEPPVEAKREDGGPEPEGTLPAET
LLLSSPVEVKGEDGDGEPEGTLPAEAPPPPPPVEVKGEDGDQEPEGTLPAETLLLSPPVK
VKGEDGDREPEGTLPAEAPPPPPLGAAREEPTPQAVATEGVFVTELDGTRTEDLETIRLE
TKETFCIDDLPDLEDDDETGKSLEDQNMCFPKIEVISSLSDDSDPELDYTSLPVLENLPT
DTLSNIFAVSKDTSKAARVPFTDIFKKEAKRDLEIRKQDTKSPRPLIQELSDEDPSGQLL
MPPTCQRDAAPLTSSGDRDSDFLAASSPVPTESAATPPETCVGVAQPSQALPTWDLTAFP
APKAS

Sequence length

725

Interactions

View interactions

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Ciliary dyskinesia	Primary ciliary dyskinesia 13, primary ciliary dyskinesia	rs267607227, rs1555527001, rs761851970, rs397515339, rs1060502829, rs748869874, rs758650222, rs1489377964, rs1555526915, rs267607225, rs1555519999, rs762843285, rs267607226, rs1233603821, rs786205052, rs745495583 View all (1 more)	N/A
Kartagener Syndrome	kartagener syndrome	rs267607227, rs397515339	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Heterotaxia	Heterotaxy	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (5)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Ciliary Motility Disorders	Associate	19944405, 23122589, 25186273, 33174003
Congenital Abnormalities	Associate	33174003
Infertility	Associate	33174003
Nasopharyngeal Carcinoma	Associate	31770211
Neural Tube Defects	Associate	27543293

DNAAF1 (dynein axonemal assembly factor 1)