DNAI1
entrez
27019
canonical
uniprot
Q9UI46
canonical
ensembl
ENSG00000122735
resolver
ensp
ENSP00000242317
resolver
ensp
ENSP00000480538
resolver
enst
ENST00000614641
resolver
genesymbol
DNAI1
resolver
hgnc
HGNC:2954
resolver
uniprot
A0A087WWV9
resolver
uniprot
A0A140VJI0
resolver
uniprot
B7Z7U1
resolver
uniprot
Q5T8G7
resolver
uniprot
Q8NHQ7
resolver
uniprot
Q9UEZ8
resolver
uniprot_entry
A0A087WWV9_HUMAN
resolver
uniprot_entry
A0A140VJI0_HUMAN
resolver
uniprot_entry
DNAI1_HUMAN
resolver
uniprot_sec
B7Z7U1
resolver
uniprot_sec
Q5T8G7
resolver
uniprot_sec
Q8NHQ7
resolver
uniprot_sec
Q9UEZ8
resolver
amino_acid_sequence
MIPASAKAPHKQPHKQSISIGRGTRKRDEDSGTEVGEGTDEWAQSKATVRPPDQLELTDAELKEEFTRILTANNPHAPQNIVRYSFKEGTYKPIGFVNQLAVHYTQVGNLIPKDSDEGRRQHYRDELVAGSQESVKVISETGNLEEDEEPKELETEPGSQTDVPAAGAAEKVTEEELMTPKQPKERKLTNQFNFSERASQTYNNPVRDRECQTEPPPRTNFSATANQWEIYDAYVEELEKQEKTKEKEKAKTPVAKKSGKMAMRKLTSMESQTDDLIKLSQAAKIMERMVNQNTYDDIAQDFKYYDDAADEYRDQVGTLLPLWKFQNDKAKRLSVTALCWNPKYRDLFAVGYGSYDFMKQSRGMLLLYSLKNPSFPEYMFSSNSGVMCLDIHVDHPYLVAVGHYDGNVAIYNLKKPHSQPSFCSSAKSGKHSDPVWQVKWQKDDMDQNLNFFSVSSDGRIVSWTLVKRKLVHIDVIKLKVEGSTTEVPEGLQLHPVGCGTAFDFHKEIDYMFLVGTEEGKIYKCSKSYSSQFLDTYDAHNMSVDTVSWNPYHTKVFMSCSSDWTVKIWDHTIKTPMFIYDLNSAVGDVAWAPYSSTVFAAVTTDGKAHIFDLAINKYEAICNQPVAAKKNRLTHVQFNLIHPIIIVGDDRGHIISLKLSPNLRKMPKEKKGQEVQKGPAVEIAKLDKLLNLVREVKIKT
uniprot
proteins
disease_involvement
DISEASE: Ciliary dyskinesia, primary, 1 (CILD1) [MIM:244400]: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. {ECO:0000269|PubMed:25186273}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Kartagener syndrome (KTGS) [MIM:244400]: An autosomal recessive disorder characterized by the association of primary ciliary dyskinesia with situs inversus. Clinical features include recurrent respiratory infections, bronchiectasis, infertility, and lateral transposition of the viscera of the thorax and abdomen. The situs inversus is most often total, although it can be partial in some cases (isolated dextrocardia or isolated transposition of abdominal viscera). {ECO:0000269|PubMed:11231901}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of dynein, a family of motor proteins essential for movement along microtubules (By similarity). Required for structural and functional integrity of cilia (By similarity). Part of the dynein complex of respiratory cilia. {ECO:0000250|UniProtKB:I7M008}.
uniprot
proteins
mass_dalton
79283
uniprot
proteins
protein_family
Dynein intermediate chain family
uniprot
proteins
pubmed
10577904
uniprot
proteins
pubmed
11231901
uniprot
proteins
pubmed
12509440
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
23664119
uniprot
proteins
pubmed
25186273
uniprot
proteins
pubmed
27120127
uniprot
proteins
pubmed
33139725
uniprot
proteins
pubmed
33263282
uniprot
proteins
pubmed
39503742
uniprot
proteins
sequence_length
699
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Dynein axonemal particle {ECO:0000269|PubMed:33263282}. Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000269|PubMed:27120127}. Cell projection, cilium, flagellum {ECO:0000269|PubMed:39503742}. Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:Q8C0M8}. Note=Localizes to the manchette in elongating spermatids in a CFAP70-dependent manner. {ECO:0000250|UniProtKB:Q8C0M8}.
uniprot
proteins