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Protein

Dynein light chain 4, axonemal

Gene

DNAL4

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

Functioni

Force generating protein of respiratory cilia. Produces force towards the minus ends of microtubules. Dynein has ATPase activity (By similarity).By similarity

GO - Molecular functioni

  • dynein intermediate chain binding Source: GO_Central
  • dynein light intermediate chain binding Source: GO_Central
  • microtubule motor activity Source: Reactome

GO - Biological processi

Keywordsi

Molecular functionMotor protein

Enzyme and pathway databases

ReactomeiR-HSA-177504 Retrograde neurotrophin signalling

Names & Taxonomyi

Protein namesi
Recommended name:
Dynein light chain 4, axonemal
Gene namesi
Name:DNAL4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

EuPathDBiHostDB:ENSG00000100246.12
HGNCiHGNC:2955 DNAL4
MIMi610565 gene
neXtProtiNX_O96015

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

Mirror movements 3 (MRMV3)1 Publication
The disease is caused by mutations 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.
See also OMIM:616059

Organism-specific databases

DisGeNETi10126
MalaCardsiDNAL4
MIMi616059 phenotype
OpenTargetsiENSG00000100246
Orphaneti238722 Familial congenital mirror movements
PharmGKBiPA27426

Polymorphism and mutation databases

BioMutaiDNAL4

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001951361 – 105Dynein light chain 4, axonemalAdd BLAST105

Proteomic databases

EPDiO96015
PaxDbiO96015
PeptideAtlasiO96015
PRIDEiO96015
ProteomicsDBi51197

Expressioni

Gene expression databases

BgeeiENSG00000100246 Expressed in 154 organ(s), highest expression level in left testis
CleanExiHS_DNAL4
ExpressionAtlasiO96015 baseline and differential
GenevisibleiO96015 HS

Organism-specific databases

HPAiHPA003647

Interactioni

Subunit structurei

Consists of at least two heavy chains and a number of intermediate and light chains.

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi115430, 32 interactors
IntActiO96015, 16 interactors
MINTiO96015
STRINGi9606.ENSP00000216068

Structurei

3D structure databases

ProteinModelPortaliO96015
SMRiO96015
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the dynein light chain family.Curated

Phylogenomic databases

eggNOGiKOG3430 Eukaryota
ENOG4111NK2 LUCA
GeneTreeiENSGT00390000000378
HOGENOMiHOG000211145
HOVERGENiHBG104642
InParanoidiO96015
KOiK10412
OMAiYMFFGGN
OrthoDBiEOG091G0WT4
PhylomeDBiO96015
TreeFamiTF324136

Family and domain databases

Gene3Di3.30.740.10, 1 hit
InterProiView protein in InterPro
IPR037177 DLC_sf
IPR001372 Dynein_light_chain_typ-1/2
PANTHERiPTHR11886 PTHR11886, 1 hit
PfamiView protein in Pfam
PF01221 Dynein_light, 1 hit
SMARTiView protein in SMART
SM01375 Dynein_light, 1 hit
SUPFAMiSSF54648 SSF54648, 1 hit

Sequence (1+)i

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
« Hide
        10         20         30         40         50
MGETEGKKDE ADYKRLQTFP LVRHSDMPEE MRVETMELCV TACEKFSNNN
60 70 80 90 100
ESAAKMIKET MDKKFGSSWH VVIGEGFGFE ITHEVKNLLY LYFGGTLAVC

VWKCS
Length:105
Mass (Da):12,009
Last modified:May 1, 1999 - v1
Checksum:iD0AE8929DEB2AC06
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B0QXZ5B0QXZ5_HUMAN
Dynein light chain
DNAL4
68Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti58K → N in CAG46992 (Ref. 6) Curated1

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
CCDSiCCDS13979.1
RefSeqiNP_005731.1, NM_005740.2
UniGeneiHs.632766

Genome annotation databases

EnsembliENST00000216068; ENSP00000216068; ENSG00000100246
GeneIDi10126
KEGGihsa:10126
UCSCiuc003awj.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
CCDSiCCDS13979.1
RefSeqiNP_005731.1, NM_005740.2
UniGeneiHs.632766

3D structure databases

ProteinModelPortaliO96015
SMRiO96015
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115430, 32 interactors
IntActiO96015, 16 interactors
MINTiO96015
STRINGi9606.ENSP00000216068

Polymorphism and mutation databases

BioMutaiDNAL4

Proteomic databases

EPDiO96015
PaxDbiO96015
PeptideAtlasiO96015
PRIDEiO96015
ProteomicsDBi51197

Protocols and materials databases

DNASUi10126
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000216068; ENSP00000216068; ENSG00000100246
GeneIDi10126
KEGGihsa:10126
UCSCiuc003awj.4 human

Organism-specific databases

CTDi10126
DisGeNETi10126
EuPathDBiHostDB:ENSG00000100246.12
GeneCardsiDNAL4
HGNCiHGNC:2955 DNAL4
HPAiHPA003647
MalaCardsiDNAL4
MIMi610565 gene
616059 phenotype
neXtProtiNX_O96015
OpenTargetsiENSG00000100246
Orphaneti238722 Familial congenital mirror movements
PharmGKBiPA27426
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3430 Eukaryota
ENOG4111NK2 LUCA
GeneTreeiENSGT00390000000378
HOGENOMiHOG000211145
HOVERGENiHBG104642
InParanoidiO96015
KOiK10412
OMAiYMFFGGN
OrthoDBiEOG091G0WT4
PhylomeDBiO96015
TreeFamiTF324136

Enzyme and pathway databases

ReactomeiR-HSA-177504 Retrograde neurotrophin signalling

Miscellaneous databases

ChiTaRSiDNAL4 human
GeneWikiiDNAL4
GenomeRNAii10126
PROiPR:O96015
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000100246 Expressed in 154 organ(s), highest expression level in left testis
CleanExiHS_DNAL4
ExpressionAtlasiO96015 baseline and differential
GenevisibleiO96015 HS

Family and domain databases

Gene3Di3.30.740.10, 1 hit
InterProiView protein in InterPro
IPR037177 DLC_sf
IPR001372 Dynein_light_chain_typ-1/2
PANTHERiPTHR11886 PTHR11886, 1 hit
PfamiView protein in Pfam
PF01221 Dynein_light, 1 hit
SMARTiView protein in SMART
SM01375 Dynein_light, 1 hit
SUPFAMiSSF54648 SSF54648, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiDNAL4_HUMAN
AccessioniPrimary (citable) accession number: O96015
Secondary accession number(s): Q6FGB2, Q6FGD0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 20, 2002
Last sequence update: May 1, 1999
Last modified: November 7, 2018
This is version 146 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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