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UniProtKB - O96015 (DNAL4_HUMAN)
Protein
Dynein axonemal light chain 4
Gene
DNAL4
Organism
Homo sapiens (Human)
Status
Functioni
Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity (By similarity).
By similarityGO - Molecular functioni
- dynein intermediate chain binding Source: GO_Central
- dynein light intermediate chain binding Source: GO_Central
- identical protein binding Source: IntAct
- microtubule motor activity Source: Reactome
GO - Biological processi
- microtubule-based movement Source: Reactome
Keywordsi
Molecular function | Motor protein |
Enzyme and pathway databases
PathwayCommonsi | O96015 |
Reactomei | R-HSA-177504, Retrograde neurotrophin signalling |
SignaLinki | O96015 |
Names & Taxonomyi
Protein namesi | Recommended name: Dynein axonemal light chain 4 |
Gene namesi | Name:DNAL4 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:2955, DNAL4 |
MIMi | 610565, gene |
neXtProti | NX_O96015 |
VEuPathDBi | HostDB:ENSG00000100246 |
Subcellular locationi
Cytoskeleton
- cilium axoneme By similarity
Cytoskeleton
- dynein complex Source: GO_Central
- microtubule Source: UniProtKB-KW
Plasma Membrane
- plasma membrane Source: Reactome
Other locations
Keywords - Cellular componenti
Cell projection, Cilium, Cytoplasm, Cytoskeleton, Dynein, MicrotubulePathology & Biotechi
Involvement in diseasei
Mirror movements 3 (MRMV3)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA disorder characterized by contralateral involuntary movements that mirror voluntary ones. While mirror movements are occasionally found in young children, persistence beyond the age of 10 is abnormal. Mirror movements occur more commonly in the upper extremities.
Related information in OMIMOrganism-specific databases
DisGeNETi | 10126 |
MalaCardsi | DNAL4 |
MIMi | 616059, phenotype |
OpenTargetsi | ENSG00000100246 |
Orphaneti | 238722, Familial congenital mirror movements |
PharmGKBi | PA27426 |
Miscellaneous databases
Pharosi | O96015, Tbio |
Genetic variation databases
BioMutai | DNAL4 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000195136 | 1 – 105 | Dynein axonemal light chain 4Add BLAST | 105 |
Proteomic databases
EPDi | O96015 |
MassIVEi | O96015 |
PaxDbi | O96015 |
PeptideAtlasi | O96015 |
PRIDEi | O96015 |
ProteomicsDBi | 51197 |
PTM databases
iPTMneti | O96015 |
PhosphoSitePlusi | O96015 |
Expressioni
Gene expression databases
Bgeei | ENSG00000100246, Expressed in left testis and 171 other tissues |
ExpressionAtlasi | O96015, baseline and differential |
Genevisiblei | O96015, HS |
Organism-specific databases
HPAi | ENSG00000100246, Low tissue specificity |
Interactioni
Subunit structurei
Consists of at least two heavy chains and a number of intermediate and light chains.
Binary interactionsi
O96015
GO - Molecular functioni
- dynein intermediate chain binding Source: GO_Central
- dynein light intermediate chain binding Source: GO_Central
- identical protein binding Source: IntAct
Protein-protein interaction databases
BioGRIDi | 115430, 39 interactors |
IntActi | O96015, 15 interactors |
MINTi | O96015 |
STRINGi | 9606.ENSP00000216068 |
Miscellaneous databases
RNActi | O96015, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the dynein light chain family.Curated
Phylogenomic databases
eggNOGi | KOG3430, Eukaryota |
GeneTreei | ENSGT00940000161265 |
HOGENOMi | CLU_070944_3_0_1 |
InParanoidi | O96015 |
OMAi | YMFFGGN |
OrthoDBi | 1520814at2759 |
PhylomeDBi | O96015 |
TreeFami | TF324136 |
Family and domain databases
Gene3Di | 3.30.740.10, 1 hit |
InterProi | View protein in InterPro IPR037177, DLC_sf IPR001372, Dynein_light_chain_typ-1/2 |
PANTHERi | PTHR11886, PTHR11886, 1 hit |
Pfami | View protein in Pfam PF01221, Dynein_light, 1 hit |
SMARTi | View protein in SMART SM01375, Dynein_light, 1 hit |
SUPFAMi | SSF54648, SSF54648, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All
O96015-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MGETEGKKDE ADYKRLQTFP LVRHSDMPEE MRVETMELCV TACEKFSNNN
60 70 80 90 100
ESAAKMIKET MDKKFGSSWH VVIGEGFGFE ITHEVKNLLY LYFGGTLAVC
VWKCS
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketB0QXZ5 | B0QXZ5_HUMAN | Dynein light chain | DNAL4 | 68 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 58 | K → N in CAG46992 (Ref. 6) Curated | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AL035366 mRNA Translation: CAA23018.1 BT009847 mRNA Translation: AAP88849.1 AY453399 mRNA Translation: AAS47516.1 CR456487 mRNA Translation: CAG30373.1 AK290566 mRNA Translation: BAF83255.1 CR542177 mRNA Translation: CAG46974.1 CR542195 mRNA Translation: CAG46992.1 AL008583 Genomic DNA No translation available. CH471095 Genomic DNA Translation: EAW60272.1 BC002968 mRNA Translation: AAH02968.1 |
CCDSi | CCDS13979.1 |
RefSeqi | NP_005731.1, NM_005740.2 |
Genome annotation databases
Ensembli | ENST00000216068; ENSP00000216068; ENSG00000100246 |
GeneIDi | 10126 |
KEGGi | hsa:10126 |
MANE-Selecti | ENST00000216068.9; ENSP00000216068.4; NM_005740.3; NP_005731.1 |
UCSCi | uc003awj.4, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AL035366 mRNA Translation: CAA23018.1 BT009847 mRNA Translation: AAP88849.1 AY453399 mRNA Translation: AAS47516.1 CR456487 mRNA Translation: CAG30373.1 AK290566 mRNA Translation: BAF83255.1 CR542177 mRNA Translation: CAG46974.1 CR542195 mRNA Translation: CAG46992.1 AL008583 Genomic DNA No translation available. CH471095 Genomic DNA Translation: EAW60272.1 BC002968 mRNA Translation: AAH02968.1 |
CCDSi | CCDS13979.1 |
RefSeqi | NP_005731.1, NM_005740.2 |
3D structure databases
SMRi | O96015 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 115430, 39 interactors |
IntActi | O96015, 15 interactors |
MINTi | O96015 |
STRINGi | 9606.ENSP00000216068 |
PTM databases
iPTMneti | O96015 |
PhosphoSitePlusi | O96015 |
Genetic variation databases
BioMutai | DNAL4 |
Proteomic databases
EPDi | O96015 |
MassIVEi | O96015 |
PaxDbi | O96015 |
PeptideAtlasi | O96015 |
PRIDEi | O96015 |
ProteomicsDBi | 51197 |
Protocols and materials databases
Antibodypediai | 329, 272 antibodies from 29 providers |
DNASUi | 10126 |
Genome annotation databases
Ensembli | ENST00000216068; ENSP00000216068; ENSG00000100246 |
GeneIDi | 10126 |
KEGGi | hsa:10126 |
MANE-Selecti | ENST00000216068.9; ENSP00000216068.4; NM_005740.3; NP_005731.1 |
UCSCi | uc003awj.4, human |
Organism-specific databases
CTDi | 10126 |
DisGeNETi | 10126 |
GeneCardsi | DNAL4 |
HGNCi | HGNC:2955, DNAL4 |
HPAi | ENSG00000100246, Low tissue specificity |
MalaCardsi | DNAL4 |
MIMi | 610565, gene 616059, phenotype |
neXtProti | NX_O96015 |
OpenTargetsi | ENSG00000100246 |
Orphaneti | 238722, Familial congenital mirror movements |
PharmGKBi | PA27426 |
VEuPathDBi | HostDB:ENSG00000100246 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3430, Eukaryota |
GeneTreei | ENSGT00940000161265 |
HOGENOMi | CLU_070944_3_0_1 |
InParanoidi | O96015 |
OMAi | YMFFGGN |
OrthoDBi | 1520814at2759 |
PhylomeDBi | O96015 |
TreeFami | TF324136 |
Enzyme and pathway databases
PathwayCommonsi | O96015 |
Reactomei | R-HSA-177504, Retrograde neurotrophin signalling |
SignaLinki | O96015 |
Miscellaneous databases
BioGRID-ORCSi | 10126, 7 hits in 1044 CRISPR screens |
ChiTaRSi | DNAL4, human |
GeneWikii | DNAL4 |
GenomeRNAii | 10126 |
Pharosi | O96015, Tbio |
PROi | PR:O96015 |
RNActi | O96015, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000100246, Expressed in left testis and 171 other tissues |
ExpressionAtlasi | O96015, baseline and differential |
Genevisiblei | O96015, HS |
Family and domain databases
Gene3Di | 3.30.740.10, 1 hit |
InterProi | View protein in InterPro IPR037177, DLC_sf IPR001372, Dynein_light_chain_typ-1/2 |
PANTHERi | PTHR11886, PTHR11886, 1 hit |
Pfami | View protein in Pfam PF01221, Dynein_light, 1 hit |
SMARTi | View protein in SMART SM01375, Dynein_light, 1 hit |
SUPFAMi | SSF54648, SSF54648, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | DNAL4_HUMAN | |
Accessioni | O96015Primary (citable) accession number: O96015 Secondary accession number(s): Q6FGB2, Q6FGD0 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | June 20, 2002 |
Last sequence update: | May 1, 1999 | |
Last modified: | February 23, 2022 | |
This is version 163 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 22
Human chromosome 22: entries, gene names and cross-references to MIM - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families