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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	27019
Gene name	Dynein axonemal intermediate chain 1
Gene symbol	DNAI1
Synonyms (NCBI Gene)	CILD1DIC1ICS1PCDoda6
Chromosome	9
Chromosome location	9p13.3
Summary	This gene encodes a member of the dynein intermediate chain family. The encoded protein is part of the dynein complex in respiratory cilia. The inner- and outer-arm dyneins, which bridge between the doublet microtubules in axonemes, are the force-generati

Show/Hide all (25)

SNP ID	Visualize variation	Clinical significance	Consequence
rs11793196	G>A,T	Likely-pathogenic, benign, uncertain-significance, likely-benign	Missense variant, coding sequence variant
rs79833450	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs116938457	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs200411544	G>-	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Intron variant
rs200488444	G>C	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Splice acceptor variant, coding sequence variant, missense variant
rs200669099	G>A	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs202213517	C>T	Benign, uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs368248592	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs376252276	G>A,C,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs397515563	G>A	Pathogenic, likely-pathogenic	Splice donor variant
rs606231164	->AATA	Pathogenic	Coding sequence variant, frameshift variant
rs606231165	CCAAGGTCTTCA>-	Pathogenic	Inframe deletion, coding sequence variant
rs751920647	C>-	Pathogenic	Coding sequence variant, stop gained
rs767667443	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs769224534	C>A,G,T	Pathogenic	Coding sequence variant, synonymous variant, missense variant, stop gained
rs769284314	G>A	Pathogenic	Coding sequence variant, stop gained
rs772686744	G>C	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs876657683	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs878854968	C>G	Pathogenic	Coding sequence variant, stop gained
rs1060503495	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060503515	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1465404366	G>T	Pathogenic	Splice donor variant
rs1587067513	T>G	Likely-pathogenic	Splice donor variant
rs1587089935	G>A	Likely-pathogenic	Splice acceptor variant
rs1587091911	G>T	Likely-pathogenic	Splice acceptor variant

Show/Hide all (21)

miRTarBase ID	miRNA	Experiments
MIRT2213322	hsa-miR-3649	CLIP-seq
MIRT2213323	hsa-miR-383	CLIP-seq
MIRT2213324	hsa-miR-4433	CLIP-seq
MIRT2213325	hsa-miR-4459	CLIP-seq
MIRT2213326	hsa-miR-4481	CLIP-seq
MIRT2213327	hsa-miR-4717-3p	CLIP-seq
MIRT2213328	hsa-miR-4745-5p	CLIP-seq
MIRT2213329	hsa-miR-4768-3p	CLIP-seq
MIRT2213330	hsa-miR-4772-5p	CLIP-seq
MIRT2213331	hsa-miR-492	CLIP-seq
MIRT2213332	hsa-miR-615-5p	CLIP-seq
MIRT2213323	hsa-miR-383	CLIP-seq
MIRT2213324	hsa-miR-4433	CLIP-seq
MIRT2213325	hsa-miR-4459	CLIP-seq
MIRT2213326	hsa-miR-4481	CLIP-seq
MIRT2213327	hsa-miR-4717-3p	CLIP-seq
MIRT2213328	hsa-miR-4745-5p	CLIP-seq
MIRT2213329	hsa-miR-4768-3p	CLIP-seq
MIRT2213330	hsa-miR-4772-5p	CLIP-seq
MIRT2213331	hsa-miR-492	CLIP-seq
MIRT2213332	hsa-miR-615-5p	CLIP-seq

Show/Hide all (34)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003341	Process	Cilium movement	IBA
GO:0003341	Process	Cilium movement	IEA
GO:0003341	Process	Cilium movement	IMP	11231901
GO:0003351	Process	Epithelial cilium movement involved in extracellular fluid movement	IEA
GO:0003774	Function	Cytoskeletal motor activity	TAS	10577904
GO:0005515	Function	Protein binding	IPI	23664119, 33139725
GO:0005576	Component	Extracellular region	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005856	Component	Cytoskeleton	TAS	10577904
GO:0005874	Component	Microtubule	IEA
GO:0005929	Component	Cilium	IDA	27120127
GO:0005929	Component	Cilium	IEA
GO:0005929	Component	Cilium	TAS	10577904
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0007368	Process	Determination of left/right symmetry	IMP	11231901, 17515466, 22499950
GO:0007507	Process	Heart development	IEA
GO:0008286	Process	Insulin receptor signaling pathway	IEA
GO:0015630	Component	Microtubule cytoskeleton	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0030286	Component	Dynein complex	IEA
GO:0030317	Process	Flagellated sperm motility	IMP	11231901, 18492703
GO:0036157	Component	Outer dynein arm	IBA
GO:0036157	Component	Outer dynein arm	IMP	11231901, 16858015
GO:0036158	Process	Outer dynein arm assembly	IBA
GO:0036158	Process	Outer dynein arm assembly	IMP	11231901, 15750039, 16858015, 18950741
GO:0042995	Component	Cell projection	IEA
GO:0045503	Function	Dynein light chain binding	IBA
GO:0045504	Function	Dynein heavy chain binding	IBA
GO:0097386	Component	Glial cell projection	IEA
GO:0097729	Component	9+2 motile cilium	IEA
GO:0120293	Component	Dynein axonemal particle	IEA

MIM	HGNC	e!Ensembl
604366	2954	ENSG00000122735

Q9UI46

Protein name

Dynein axonemal intermediate chain 1 (Axonemal dynein intermediate chain 1)

Protein function

Part of the dynein complex of respiratory cilia.

PDB

8J07

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00400	WD40	530 → 569	WD domain, G-beta repeat	Repeat

Tissue specificity

TISSUE SPECIFICITY: Expressed in respiratory ciliated cells (at protein level). {ECO:0000269|PubMed:33263282}.

Sequence

MIPASAKAPHKQPHKQSISIGRGTRKRDEDSGTEVGEGTDEWAQSKATVRPPDQLELTDA
ELKEEFTRILTANNPHAPQNIVRYSFKEGTYKPIGFVNQLAVHYTQVGNLIPKDSDEGRR
QHYRDELVAGSQESVKVISETGNLEEDEEPKELETEPGSQTDVPAAGAAEKVTEEELMTP
KQPKERKLTNQFNFSERASQTYNNPVRDRECQTEPPPRTNFSATANQWEIYDAYVEELEK
QEKTKEKEKAKTPVAKKSGKMAMRKLTSMESQTDDLIKLSQAAKIMERMVNQNTYDDIAQ
DFKYYDDAADEYRDQVGTLLPLWKFQNDKAKRLSVTALCWNPKYRDLFAVGYGSYDFMKQ
SRGMLLLYSLKNPSFPEYMFSSNSGVMCLDIHVDHPYLVAVGHYDGNVAIYNLKKPHSQP
SFCSSAKSGKHSDPVWQVKWQKDDMDQNLNFFSVSSDGRIVSWTLVKRKLVHIDVIKLKV
EGSTTEVPEGLQLHPVGCGTAFDFHKEIDYMFLVGTEEGKIYKCSKSYSSQFLDTYDAHN
MSVDTVSWNPYHTKVFMSCSSDWTVKIWDHTIKTPMFIYDLNSAVGDVAWAPYSSTVFAA
VTTDGKAHIFDLAINKYEAICNQPVAAKKNRLTHVQFNLIHPIIIVGDDRGHIISLKLSP
NLRKMPKEKKGQEVQKGPAVEIAKLDKLLNLVREVKIKT

Sequence length

699

Interactions

View interactions

	KEGG
	Motor proteins Amyotrophic lateral sclerosis Huntington disease Pathways of neurodegeneration - multiple diseases

1048

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
DNAI1-related disorder	Pathogenic; Likely pathogenic	rs397515363, rs79833450, rs876657683, rs201120508, rs2492034750, rs747121305, rs376252276	RCV004754247 RCV003407285 RCV004754360 RCV004584648 RCV003416850 RCV003424200 RCV003390758
Kartagener syndrome	Likely pathogenic; Pathogenic	rs1268770869, rs775831317, rs904790792, rs2132057423, rs1405276816, rs1587085165, rs2132083938, rs1168493593, rs749302505, rs763505357, rs2132068900, rs867262419, rs2132057443, rs1371519471, rs1345403701 View all (21 more)	RCV005040238 RCV004796617 RCV005050362 RCV005040255 RCV001542672 RCV001580695 RCV001780988 RCV002282605 RCV005361853 RCV005635244 RCV002498019 RCV005040466 RCV005860293 RCV005050573 RCV005254696 RCV005045295 RCV003614200 RCV005044976 RCV000005954 RCV000005955 RCV000005956 RCV000005957 RCV005044437 RCV002500798 RCV000763195 RCV005044504 RCV005047667 RCV005047752 RCV005047799 RCV001782959 RCV005046936 RCV005046969 RCV000055932 RCV000055933 RCV003234003 RCV005049786 RCV001283790
Primary ciliary dyskinesia	Likely pathogenic; Pathogenic	rs2132057443, rs532919927, rs1268770869, rs775831317, rs376252276, rs2132084012, rs904790792, rs2132057373, rs2132057423, rs2132061817, rs1824564676, rs2132065290, rs1290572246, rs2132076740, rs2132081341 View all (100 more)	RCV001377638 RCV001378385 RCV001378038 RCV001378338 RCV001379375 RCV001376757 RCV001377875 RCV001383381 RCV001384088 RCV001384782 RCV001389185 RCV001390677 RCV001389846 RCV001388813 RCV001383767 RCV002032539 RCV001869873 RCV001849593 RCV002036637 RCV001978710 RCV001942384 RCV002011185 RCV001929928 RCV002048682 RCV001891366 RCV001933942 RCV001874925 RCV001908008 RCV001989075 RCV002022236 RCV001953418 RCV001912243 RCV002029461 RCV001978177 RCV001987117 RCV002020203 RCV002009002 RCV001983838 RCV002457016 RCV002406075 RCV003060117 RCV003081119 RCV003073909 RCV003067146 RCV003097656 RCV002620031 RCV002573144 RCV002770098 RCV002800829 RCV000230151 RCV000468431 RCV002833760 RCV002839224 RCV002843512 RCV002847671 RCV002898622 RCV002858382 RCV002948143 RCV002982390 RCV003045360 RCV003035000 RCV003043816 RCV003051732 RCV000216627 RCV000232560 RCV000228761 RCV000231603 RCV000538706 RCV003301534 RCV003536055 RCV003537615 RCV003539015 RCV003538973 RCV003536579 RCV003535183 RCV003536721 RCV003536725 RCV003536622 RCV003647373 RCV003649797 RCV003651151 RCV003652350 RCV003651247 RCV003651201 RCV003651277 RCV003651262 RCV003651269 RCV003652460 RCV003652503 RCV003653967 RCV003653785 RCV003649924 RCV003649925 RCV003651578 RCV003834352 RCV003830076 RCV003861165 RCV000466842 RCV000473781 RCV000525621 RCV000629374 RCV000629474 RCV000691848 RCV000707353 RCV000694022 RCV000795563 RCV000797597 RCV000822101 RCV000536539 RCV000698002 RCV001067358 RCV001214751 RCV001224667 RCV001201947 RCV001212000 RCV001210157 RCV001216195 RCV001232528 RCV001237426 RCV001245468 RCV001229173 RCV001255241 RCV001255242
Respiratory ciliopathies including non-CF bronchiectasis	Pathogenic	rs368248592	RCV005646779
See cases	Pathogenic	rs368248592	RCV004584407

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Familial cancer of breast	Conflicting classifications of pathogenicity	rs148701985	RCV005895022
Infertility disorder	Uncertain significance	rs140820295	RCV001327957
Male infertility	Uncertain significance	rs140820295	RCV001283733

Show/Hide Text Mining Associations (10)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Arm Injuries	Associate	16858015
Carcinoma Basal Cell	Associate	7640213
Carcinoma in Situ	Associate	11231901
Ciliary Motility Disorders	Associate	11231901, 15750039, 16055928, 16858015, 18434704, 19300481, 21143860, 22499950, 25186273, 28801648, 30300419, 33577779, 34445527, 37598471, 37998386
Congenital Abnormalities	Associate	21143860
Heterotaxy Syndrome	Associate	22499950
Hypogonadism	Associate	33574797
Infertility Male	Associate	33574797
Kartagener Syndrome	Associate	11231901
Situs Inversus	Associate	11231901

DNAI1 (dynein axonemal intermediate chain 1)