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Protein

Dynein intermediate chain 1, axonemal

Gene

DNAI1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Part of the dynein complex of respiratory cilia.

GO - Molecular functioni

  • dynein heavy chain binding Source: GO_Central
  • dynein light chain binding Source: GO_Central
  • motor activity Source: ProtInc

GO - Biological processi

Keywordsi

Molecular functionMotor protein
Biological processCilium biogenesis/degradation

Enzyme and pathway databases

SignaLinkiQ9UI46

Names & Taxonomyi

Protein namesi
Recommended name:
Dynein intermediate chain 1, axonemal
Alternative name(s):
Axonemal dynein intermediate chain 1
Gene namesi
Name:DNAI1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

EuPathDBiHostDB:ENSG00000122735.15
HGNCiHGNC:2954 DNAI1
MIMi604366 gene
neXtProtiNX_Q9UI46

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton, Dynein, Microtubule

Pathology & Biotechi

Involvement in diseasei

Ciliary dyskinesia, primary, 1 (CILD1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:244400
Kartagener syndrome (KTGS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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).
See also OMIM:244400
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_016775515G → S in KTGS. 1 PublicationCorresponds to variant dbSNP:rs79833450EnsemblClinVar.1

Keywords - Diseasei

Ciliopathy, Disease mutation, Kartagener syndrome, Primary ciliary dyskinesia

Organism-specific databases

DisGeNETi27019
GeneReviewsiDNAI1
MalaCardsiDNAI1
MIMi244400 phenotype
OpenTargetsiENSG00000122735
Orphaneti244 Primary ciliary dyskinesia
PharmGKBiPA27407

Polymorphism and mutation databases

BioMutaiDNAI1
DMDMi12643888

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001146581 – 699Dynein intermediate chain 1, axonemalAdd BLAST699

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei131PhosphoserineCombined sources1
Modified residuei134PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ9UI46
PeptideAtlasiQ9UI46
PRIDEiQ9UI46
ProteomicsDBi84474

PTM databases

iPTMnetiQ9UI46
PhosphoSitePlusiQ9UI46

Expressioni

Gene expression databases

BgeeiENSG00000122735 Expressed in 92 organ(s), highest expression level in right uterine tube
CleanExiHS_DNAI1
ExpressionAtlasiQ9UI46 baseline and differential
GenevisibleiQ9UI46 HS

Organism-specific databases

HPAiHPA021649
HPA021843

Interactioni

Subunit structurei

Consists of at least two heavy chains and a number of intermediate and light chains. Interacts with BICD2.1 Publication

GO - Molecular functioni

Protein-protein interaction databases

BioGridi117957, 2 interactors
STRINGi9606.ENSP00000242317

Structurei

3D structure databases

ProteinModelPortaliQ9UI46
SMRiQ9UI46
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati320 – 370WD 1Add BLAST51
Repeati375 – 413WD 2Add BLAST39
Repeati422 – 465WD 3Add BLAST44
Repeati474 – 526WD 4Add BLAST53
Repeati531 – 570WD 5Add BLAST40
Repeati574 – 612WD 6Add BLAST39
Repeati618 – 658WD 7Add BLAST41

Sequence similaritiesi

Belongs to the dynein intermediate chain family.Curated

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiENOG410IU35 Eukaryota
ENOG410YQQE LUCA
GeneTreeiENSGT00730000110228
HOGENOMiHOG000231705
HOVERGENiHBG005545
InParanoidiQ9UI46
KOiK10409
PhylomeDBiQ9UI46
TreeFamiTF300553

Family and domain databases

Gene3Di2.130.10.10, 2 hits
InterProiView protein in InterPro
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR017986 WD40_repeat_dom
IPR036322 WD40_repeat_dom_sf
PfamiView protein in Pfam
PF00400 WD40, 1 hit
SMARTiView protein in SMART
SM00320 WD40, 4 hits
SUPFAMiSSF50978 SSF50978, 1 hit
PROSITEiView protein in PROSITE
PS50082 WD_REPEATS_2, 1 hit
PS50294 WD_REPEATS_REGION, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9UI46-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MIPASAKAPH KQPHKQSISI GRGTRKRDED SGTEVGEGTD EWAQSKATVR
60 70 80 90 100
PPDQLELTDA ELKEEFTRIL TANNPHAPQN IVRYSFKEGT YKPIGFVNQL
110 120 130 140 150
AVHYTQVGNL IPKDSDEGRR QHYRDELVAG SQESVKVISE TGNLEEDEEP
160 170 180 190 200
KELETEPGSQ TDVPAAGAAE KVTEEELMTP KQPKERKLTN QFNFSERASQ
210 220 230 240 250
TYNNPVRDRE CQTEPPPRTN FSATANQWEI YDAYVEELEK QEKTKEKEKA
260 270 280 290 300
KTPVAKKSGK MAMRKLTSME SQTDDLIKLS QAAKIMERMV NQNTYDDIAQ
310 320 330 340 350
DFKYYDDAAD EYRDQVGTLL PLWKFQNDKA KRLSVTALCW NPKYRDLFAV
360 370 380 390 400
GYGSYDFMKQ SRGMLLLYSL KNPSFPEYMF SSNSGVMCLD IHVDHPYLVA
410 420 430 440 450
VGHYDGNVAI YNLKKPHSQP SFCSSAKSGK HSDPVWQVKW QKDDMDQNLN
460 470 480 490 500
FFSVSSDGRI VSWTLVKRKL VHIDVIKLKV EGSTTEVPEG LQLHPVGCGT
510 520 530 540 550
AFDFHKEIDY MFLVGTEEGK IYKCSKSYSS QFLDTYDAHN MSVDTVSWNP
560 570 580 590 600
YHTKVFMSCS SDWTVKIWDH TIKTPMFIYD LNSAVGDVAW APYSSTVFAA
610 620 630 640 650
VTTDGKAHIF DLAINKYEAI CNQPVAAKKN RLTHVQFNLI HPIIIVGDDR
660 670 680 690
GHIISLKLSP NLRKMPKEKK GQEVQKGPAV EIAKLDKLLN LVREVKIKT
Length:699
Mass (Da):79,283
Last modified:May 1, 2000 - v1
Checksum:iF7E2CF9D09A1F8BD
GO
Isoform 2 (identifier: Q9UI46-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     88-168: EGTYKPIGFV...SQTDVPAAGA → KQWSLGFIPK...LILIIIMQIR
     169-699: Missing.

Note: No experimental confirmation available.
Show »
Length:168
Mass (Da):19,284
Checksum:i8C5AAF3156445AEB
GO

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WWV9A0A087WWV9_HUMAN
Dynein intermediate chain 1, axonem...
DNAI1
703Annotation score:
H0Y6V0H0Y6V0_HUMAN
Dynein intermediate chain 1, axonem...
DNAI1
142Annotation score:
Q5T8G8Q5T8G8_HUMAN
Dynein intermediate chain 1, axonem...
DNAI1
289Annotation score:
H0YDT9H0YDT9_HUMAN
Dynein intermediate chain 1, axonem...
DNAI1
175Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti202Y → C in AAH30583 (PubMed:15489334).Curated1
Sequence conflicti495P → Q in AAH30583 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0167748A → S2 PublicationsCorresponds to variant dbSNP:rs11547035EnsemblClinVar.1
Natural variantiVAR_03387660A → V. Corresponds to variant dbSNP:rs16931549EnsemblClinVar.1
Natural variantiVAR_033877326Q → H. Corresponds to variant dbSNP:rs16931555EnsemblClinVar.1
Natural variantiVAR_033878335V → I. Corresponds to variant dbSNP:rs11793196EnsemblClinVar.1
Natural variantiVAR_033879487V → G. Corresponds to variant dbSNP:rs11999454EnsemblClinVar.1
Natural variantiVAR_016775515G → S in KTGS. 1 PublicationCorresponds to variant dbSNP:rs79833450EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_05696388 – 168EGTYK…PAAGA → KQWSLGFIPKLKRKIPVNYW GQDEGEISNETVRVIYSLGI FIMKIVTILLNINIEHLLCV RHCVNRLFLLFLILIIIMQI R in isoform 2. 1 PublicationAdd BLAST81
Alternative sequenceiVSP_056964169 – 699Missing in isoform 2. 1 PublicationAdd BLAST531

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF091619 mRNA Translation: AAF18570.1
AF190496
, AF190477, AF190478, AF190479, AF190480, AF190481, AF190482, AF190483, AF190484, AF190485, AF190486, AF190487, AF190488, AF190489, AF190490, AF190491, AF190492, AF190493, AF190494, AF190495 Genomic DNA Translation: AAF19816.1
AK302499 mRNA Translation: BAH13727.1
AL160270 Genomic DNA No translation available.
BC030583 mRNA Translation: AAH30583.1
CCDSiCCDS6557.1 [Q9UI46-1]
RefSeqiNP_001268357.1, NM_001281428.1
NP_036276.1, NM_012144.3 [Q9UI46-1]
UniGeneiHs.112667

Genome annotation databases

EnsembliENST00000242317; ENSP00000242317; ENSG00000122735 [Q9UI46-1]
GeneIDi27019
KEGGihsa:27019
UCSCiuc003zum.5 human [Q9UI46-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF091619 mRNA Translation: AAF18570.1
AF190496
, AF190477, AF190478, AF190479, AF190480, AF190481, AF190482, AF190483, AF190484, AF190485, AF190486, AF190487, AF190488, AF190489, AF190490, AF190491, AF190492, AF190493, AF190494, AF190495 Genomic DNA Translation: AAF19816.1
AK302499 mRNA Translation: BAH13727.1
AL160270 Genomic DNA No translation available.
BC030583 mRNA Translation: AAH30583.1
CCDSiCCDS6557.1 [Q9UI46-1]
RefSeqiNP_001268357.1, NM_001281428.1
NP_036276.1, NM_012144.3 [Q9UI46-1]
UniGeneiHs.112667

3D structure databases

ProteinModelPortaliQ9UI46
SMRiQ9UI46
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117957, 2 interactors
STRINGi9606.ENSP00000242317

PTM databases

iPTMnetiQ9UI46
PhosphoSitePlusiQ9UI46

Polymorphism and mutation databases

BioMutaiDNAI1
DMDMi12643888

Proteomic databases

PaxDbiQ9UI46
PeptideAtlasiQ9UI46
PRIDEiQ9UI46
ProteomicsDBi84474

Protocols and materials databases

DNASUi27019
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000242317; ENSP00000242317; ENSG00000122735 [Q9UI46-1]
GeneIDi27019
KEGGihsa:27019
UCSCiuc003zum.5 human [Q9UI46-1]

Organism-specific databases

CTDi27019
DisGeNETi27019
EuPathDBiHostDB:ENSG00000122735.15
GeneCardsiDNAI1
GeneReviewsiDNAI1
HGNCiHGNC:2954 DNAI1
HPAiHPA021649
HPA021843
MalaCardsiDNAI1
MIMi244400 phenotype
604366 gene
neXtProtiNX_Q9UI46
OpenTargetsiENSG00000122735
Orphaneti244 Primary ciliary dyskinesia
PharmGKBiPA27407
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IU35 Eukaryota
ENOG410YQQE LUCA
GeneTreeiENSGT00730000110228
HOGENOMiHOG000231705
HOVERGENiHBG005545
InParanoidiQ9UI46
KOiK10409
PhylomeDBiQ9UI46
TreeFamiTF300553

Enzyme and pathway databases

SignaLinkiQ9UI46

Miscellaneous databases

ChiTaRSiDNAI1 human
GeneWikiiDNAI1
GenomeRNAii27019
PROiPR:Q9UI46
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000122735 Expressed in 92 organ(s), highest expression level in right uterine tube
CleanExiHS_DNAI1
ExpressionAtlasiQ9UI46 baseline and differential
GenevisibleiQ9UI46 HS

Family and domain databases

Gene3Di2.130.10.10, 2 hits
InterProiView protein in InterPro
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR017986 WD40_repeat_dom
IPR036322 WD40_repeat_dom_sf
PfamiView protein in Pfam
PF00400 WD40, 1 hit
SMARTiView protein in SMART
SM00320 WD40, 4 hits
SUPFAMiSSF50978 SSF50978, 1 hit
PROSITEiView protein in PROSITE
PS50082 WD_REPEATS_2, 1 hit
PS50294 WD_REPEATS_REGION, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiDNAI1_HUMAN
AccessioniPrimary (citable) accession number: Q9UI46
Secondary accession number(s): B7Z7U1
, Q5T8G7, Q8NHQ7, Q9UEZ8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 11, 2001
Last sequence update: May 1, 2000
Last modified: November 7, 2018
This is version 154 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
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