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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	27019
Gene name Gene Name - the full gene name approved by the HGNC.	Dynein axonemal intermediate chain 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	DNAI1
Synonyms (NCBI Gene) Gene synonyms aliases	CILD1, DIC1, ICS1, PCD, oda6
Chromosome Chromosome number	9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	9p13.3
Summary Summary of gene provided in NCBI Entrez Gene.	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

Protein

UniProt ID

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

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	rs876657683, rs769224534, rs747121305, rs878854968, rs751920647, rs769284314, rs397515363, rs368248592, rs200669099, rs148810969, rs79833450, rs1060503495, rs1587089935, rs1060503515, rs1587067513 View all (4 more)	N/A
Kartagener Syndrome	kartagener syndrome	rs876657683, rs397515363, rs751920647, rs769284314, rs606231164, rs368248592, rs79833450, rs200669099, rs606231165, rs397515563, rs1060503515	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.
male infertility	Male infertility	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (10)

Disease Name	Relationship Type	References
Associations from Text Mining Disease 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)