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Protein

Dynein light chain 1, axonemal

Gene

DNAL1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Dynein light chain 1, axonemal
Gene namesi
Name:DNAL1
Synonyms:C14orf168
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

HGNCiHGNC:23247. DNAL1.

Pathology & Biotechi

Involvement in diseasei

Ciliary dyskinesia, primary, 16 (CILD16)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:614017
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_065739150N → S in CILD16. 1 PublicationCorresponds to variant rs387907021dbSNPEnsembl.1

Keywords - Diseasei

Ciliopathy, Disease mutation, Kartagener syndrome, Primary ciliary dyskinesia

Organism-specific databases

DisGeNETi83544.
MalaCardsiDNAL1.
MIMi614017. phenotype.
OpenTargetsiENSG00000119661.
Orphaneti244. Primary ciliary dyskinesia.
PharmGKBiPA162383938.

Polymorphism and mutation databases

BioMutaiDNAL1.
DMDMi121944344.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00002811302 – 190Dynein light chain 1, axonemalAdd BLAST189

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1
Modified residuei56PhosphoserineBy similarity1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ4LDG9.
MaxQBiQ4LDG9.
PaxDbiQ4LDG9.
PeptideAtlasiQ4LDG9.
PRIDEiQ4LDG9.

PTM databases

iPTMnetiQ4LDG9.
PhosphoSitePlusiQ4LDG9.

Expressioni

Tissue specificityi

Expressed in tissues carrying motile cilia such as testis.1 Publication

Gene expression databases

BgeeiENSG00000119661.
CleanExiHS_DNAL1.
ExpressionAtlasiQ4LDG9. baseline and differential.
GenevisibleiQ4LDG9. HS.

Organism-specific databases

HPAiHPA053129.

Interactioni

Subunit structurei

Interacts with DNAH5.1 Publication

Protein-protein interaction databases

BioGridi123677. 2 interactors.
STRINGi9606.ENSP00000452037.

Structurei

3D structure databases

ProteinModelPortaliQ4LDG9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati49 – 70LRR 1Add BLAST22
Repeati71 – 92LRR 2Add BLAST22
Repeati94 – 115LRR 3Add BLAST22
Repeati116 – 137LRR 4Add BLAST22
Domaini150 – 190LRRCTAdd BLAST41

Sequence similaritiesi

Belongs to the dynein light chain LC1-type family.Curated
Contains 4 LRR (leucine-rich) repeats.Curated
Contains 1 LRRCT domain.Curated

Keywords - Domaini

Leucine-rich repeat, Repeat

Phylogenomic databases

eggNOGiKOG0531. Eukaryota.
COG4886. LUCA.
GeneTreeiENSGT00390000016904.
HOGENOMiHOG000230603.
HOVERGENiHBG081457.
InParanoidiQ4LDG9.
KOiK10411.
OMAiKWEEKNG.
OrthoDBiEOG091G0P8H.
PhylomeDBiQ4LDG9.
TreeFamiTF323974.

Family and domain databases

Gene3Di3.80.10.10. 1 hit.
InterProiIPR032675. L_dom-like.
IPR001611. Leu-rich_rpt.
[Graphical view]
SUPFAMiSSF52058. SSF52058. 1 hit.
PROSITEiPS51450. LRR. 4 hits.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q4LDG9-1) [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
MAKATTIKEA LARWEEKTGQ RPSEAKEIKL YAQIPPIEKM DASLSMLANC
60 70 80 90 100
EKLSLSTNCI EKIANLNGLK NLRILSLGRN NIKNLNGLEA VGDTLEELWI
110 120 130 140 150
SYNFIEKLKG IHIMKKLKIL YMSNNLVKDW AEFVKLAELP CLEDLVFVGN
160 170 180 190
PLEEKHSAEN NWIEEATKRV PKLKKLDGTP VIKGDEEEDN
Length:190
Mass (Da):21,533
Last modified:August 2, 2005 - v1
Checksum:iA48EA5047F6721EE
GO
Isoform 2 (identifier: Q4LDG9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-113: Missing.

Note: No experimental confirmation available.
Show »
Length:77
Mass (Da):8,883
Checksum:i7542BC929DB174F8
GO
Isoform 3 (identifier: Q4LDG9-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-39: Missing.

Note: No experimental confirmation available.
Show »
Length:151
Mass (Da):17,096
Checksum:i446438FE7E6C5911
GO

Sequence cautioni

The sequence AAH05343 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_065739150N → S in CILD16. 1 PublicationCorresponds to variant rs387907021dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0239821 – 113Missing in isoform 2. 1 PublicationAdd BLAST113
Alternative sequenceiVSP_0435901 – 39Missing in isoform 3. 1 PublicationAdd BLAST39

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF542071 mRNA. Translation: AAQ11377.1.
AK315392 mRNA. Translation: BAG37785.1.
AL833654 mRNA. Translation: CAI46147.1.
AC005225 Genomic DNA. No translation available.
AC006146 Genomic DNA. No translation available.
BC005343 mRNA. Translation: AAH05343.1. Different initiation.
CCDSiCCDS45134.1. [Q4LDG9-1]
CCDS55928.1. [Q4LDG9-3]
RefSeqiNP_001188295.1. NM_001201366.1. [Q4LDG9-3]
NP_113615.2. NM_031427.3. [Q4LDG9-1]
XP_016877168.1. XM_017021679.1. [Q4LDG9-3]
UniGeneiHs.271270.

Genome annotation databases

EnsembliENST00000311089; ENSP00000310360; ENSG00000119661. [Q4LDG9-2]
ENST00000553645; ENSP00000452037; ENSG00000119661. [Q4LDG9-1]
ENST00000554871; ENSP00000451834; ENSG00000119661. [Q4LDG9-3]
GeneIDi83544.
KEGGihsa:83544.
UCSCiuc001xoq.5. human. [Q4LDG9-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF542071 mRNA. Translation: AAQ11377.1.
AK315392 mRNA. Translation: BAG37785.1.
AL833654 mRNA. Translation: CAI46147.1.
AC005225 Genomic DNA. No translation available.
AC006146 Genomic DNA. No translation available.
BC005343 mRNA. Translation: AAH05343.1. Different initiation.
CCDSiCCDS45134.1. [Q4LDG9-1]
CCDS55928.1. [Q4LDG9-3]
RefSeqiNP_001188295.1. NM_001201366.1. [Q4LDG9-3]
NP_113615.2. NM_031427.3. [Q4LDG9-1]
XP_016877168.1. XM_017021679.1. [Q4LDG9-3]
UniGeneiHs.271270.

3D structure databases

ProteinModelPortaliQ4LDG9.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123677. 2 interactors.
STRINGi9606.ENSP00000452037.

PTM databases

iPTMnetiQ4LDG9.
PhosphoSitePlusiQ4LDG9.

Polymorphism and mutation databases

BioMutaiDNAL1.
DMDMi121944344.

Proteomic databases

EPDiQ4LDG9.
MaxQBiQ4LDG9.
PaxDbiQ4LDG9.
PeptideAtlasiQ4LDG9.
PRIDEiQ4LDG9.

Protocols and materials databases

DNASUi83544.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000311089; ENSP00000310360; ENSG00000119661. [Q4LDG9-2]
ENST00000553645; ENSP00000452037; ENSG00000119661. [Q4LDG9-1]
ENST00000554871; ENSP00000451834; ENSG00000119661. [Q4LDG9-3]
GeneIDi83544.
KEGGihsa:83544.
UCSCiuc001xoq.5. human. [Q4LDG9-1]

Organism-specific databases

CTDi83544.
DisGeNETi83544.
GeneCardsiDNAL1.
GeneReviewsiDNAL1.
HGNCiHGNC:23247. DNAL1.
HPAiHPA053129.
MalaCardsiDNAL1.
MIMi610062. gene.
614017. phenotype.
neXtProtiNX_Q4LDG9.
OpenTargetsiENSG00000119661.
Orphaneti244. Primary ciliary dyskinesia.
PharmGKBiPA162383938.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0531. Eukaryota.
COG4886. LUCA.
GeneTreeiENSGT00390000016904.
HOGENOMiHOG000230603.
HOVERGENiHBG081457.
InParanoidiQ4LDG9.
KOiK10411.
OMAiKWEEKNG.
OrthoDBiEOG091G0P8H.
PhylomeDBiQ4LDG9.
TreeFamiTF323974.

Miscellaneous databases

ChiTaRSiDNAL1. human.
GeneWikiiDNAL1.
GenomeRNAii83544.
PROiQ4LDG9.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000119661.
CleanExiHS_DNAL1.
ExpressionAtlasiQ4LDG9. baseline and differential.
GenevisibleiQ4LDG9. HS.

Family and domain databases

Gene3Di3.80.10.10. 1 hit.
InterProiIPR032675. L_dom-like.
IPR001611. Leu-rich_rpt.
[Graphical view]
SUPFAMiSSF52058. SSF52058. 1 hit.
PROSITEiPS51450. LRR. 4 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiDNAL1_HUMAN
AccessioniPrimary (citable) accession number: Q4LDG9
Secondary accession number(s): B2RD38, Q5JPB7, Q9BS43
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 20, 2007
Last sequence update: August 2, 2005
Last modified: November 30, 2016
This is version 106 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 14
    Human chromosome 14: 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.