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Protein

Dynein intermediate chain 1, axonemal

Gene

DNAI1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Part of the dynein complex of respiratory cilia.

GO - Molecular functioni

  • motor activity Source: ProtInc

GO - Biological processi

  • cilium movement Source: SYSCILIA_CCNET
  • determination of left/right symmetry Source: SYSCILIA_CCNET
  • flagellated sperm motility Source: SYSCILIA_CCNET
  • outer dynein arm assembly Source: SYSCILIA_CCNET
Complete GO annotation...

Keywords - Molecular functioni

Motor protein

Keywords - Biological processi

Cilium biogenesis/degradation

Enzyme and pathway databases

BioCyciZFISH:ENSG00000122735-MONOMER.
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

HGNCiHGNC:2954. DNAI1.

Subcellular locationi

GO - Cellular componenti

  • cilium Source: ProtInc
  • cytoplasm Source: UniProtKB-KW
  • cytoskeleton Source: ProtInc
  • microtubule Source: UniProtKB-KW
  • outer dynein arm Source: SYSCILIA_CCNET
Complete GO annotation...

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 rs79833450dbSNPEnsembl.1

Keywords - Diseasei

Ciliopathy, Disease mutation, Kartagener syndrome, Primary ciliary dyskinesia

Organism-specific databases

DisGeNETi27019.
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.

PTM databases

iPTMnetiQ9UI46.
PhosphoSitePlusiQ9UI46.

Expressioni

Gene expression databases

BgeeiENSG00000122735.
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

Protein-protein interaction databases

BioGridi117957. 1 interactor.
STRINGi9606.ENSP00000242317.

Structurei

3D structure databases

ProteinModelPortaliQ9UI46.
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
Contains 7 WD repeats.PROSITE-ProRule annotation

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. 1 hit.
InterProiIPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamiPF00400. WD40. 1 hit.
[Graphical view]
SMARTiSM00320. WD40. 4 hits.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 1 hit.
PROSITEiPS50082. WD_REPEATS_2. 1 hit.
PS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

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

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 → S.2 PublicationsCorresponds to variant rs11547035dbSNPEnsembl.1
Natural variantiVAR_03387660A → V.Corresponds to variant rs16931549dbSNPEnsembl.1
Natural variantiVAR_033877326Q → H.Corresponds to variant rs16931555dbSNPEnsembl.1
Natural variantiVAR_033878335V → I.Corresponds to variant rs11793196dbSNPEnsembl.1
Natural variantiVAR_033879487V → G.Corresponds to variant rs11999454dbSNPEnsembl.1
Natural variantiVAR_016775515G → S in KTGS. 1 PublicationCorresponds to variant rs79833450dbSNPEnsembl.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. Translation: CAI13155.1.
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

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. Translation: CAI13155.1.
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.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117957. 1 interactor.
STRINGi9606.ENSP00000242317.

PTM databases

iPTMnetiQ9UI46.
PhosphoSitePlusiQ9UI46.

Polymorphism and mutation databases

BioMutaiDNAI1.
DMDMi12643888.

Proteomic databases

PaxDbiQ9UI46.
PeptideAtlasiQ9UI46.
PRIDEiQ9UI46.

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.
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

BioCyciZFISH:ENSG00000122735-MONOMER.
SignaLinkiQ9UI46.

Miscellaneous databases

ChiTaRSiDNAI1. human.
GeneWikiiDNAI1.
GenomeRNAii27019.
PROiQ9UI46.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000122735.
CleanExiHS_DNAI1.
ExpressionAtlasiQ9UI46. baseline and differential.
GenevisibleiQ9UI46. HS.

Family and domain databases

Gene3Di2.130.10.10. 1 hit.
InterProiIPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamiPF00400. WD40. 1 hit.
[Graphical view]
SMARTiSM00320. WD40. 4 hits.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 1 hit.
PROSITEiPS50082. WD_REPEATS_2. 1 hit.
PS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiDNAI1_HUMAN
AccessioniPrimary (citable) accession number: Q9UI46
Secondary accession number(s): B7Z7U1
, Q5T8G7, Q8NHQ7, Q9UEZ8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 11, 2001
Last sequence update: May 1, 2000
Last modified: November 2, 2016
This is version 140 of the entry and version 1 of the sequence. [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. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.