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Protein

Dynein light chain 4, axonemal

Gene

DNAL4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript 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

  1. motor activity Source: UniProtKB-KW

GO - Biological processi

  1. microtubule-based process Source: InterPro
  2. neurotrophin TRK receptor signaling pathway Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Motor protein

Enzyme and pathway databases

ReactomeiREACT_12435. 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
ProteomesiUP000005640: Chromosome 22

Organism-specific databases

HGNCiHGNC:2955. DNAL4.

Subcellular locationi

Cytoplasmcytoskeletoncilium axoneme By similarity

GO - Cellular componenti

  1. cilium Source: UniProtKB-KW
  2. cytoplasm Source: UniProtKB-KW
  3. dynein complex Source: UniProtKB-KW
  4. microtubule Source: UniProtKB-KW
  5. plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

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

Pathology & Biotechi

Involvement in diseasei

Mirror movements 31 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

MIMi616059. phenotype.
PharmGKBiPA27426.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 105105Dynein light chain 4, axonemalPRO_0000195136Add
BLAST

Proteomic databases

MaxQBiO96015.
PaxDbiO96015.
PRIDEiO96015.

Expressioni

Gene expression databases

BgeeiO96015.
CleanExiHS_DNAL4.
ExpressionAtlasiO96015. baseline and differential.
GenevestigatoriO96015.

Organism-specific databases

HPAiHPA003647.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi115430. 9 interactions.
IntActiO96015. 4 interactions.
MINTiMINT-1474007.
STRINGi9606.ENSP00000216068.

Structurei

3D structure databases

ProteinModelPortaliO96015.
SMRiO96015. Positions 21-94.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the dynein light chain family.Curated

Phylogenomic databases

eggNOGiNOG286480.
GeneTreeiENSGT00390000000378.
HOGENOMiHOG000211145.
HOVERGENiHBG104642.
InParanoidiO96015.
KOiK10412.
OMAiTACEKYS.
PhylomeDBiO96015.
TreeFamiTF324136.

Family and domain databases

Gene3Di3.30.740.10. 1 hit.
InterProiIPR001372. Dynein_light_chain_typ-1/2.
[Graphical view]
PANTHERiPTHR11886. PTHR11886. 1 hit.
PfamiPF01221. Dynein_light. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti58 – 581K → N in CAG46992. 1 PublicationCurated

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. Translation: CAA15429.1.
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.3. human.

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. Translation: CAA15429.1.
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. Positions 21-94.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115430. 9 interactions.
IntActiO96015. 4 interactions.
MINTiMINT-1474007.
STRINGi9606.ENSP00000216068.

Proteomic databases

MaxQBiO96015.
PaxDbiO96015.
PRIDEiO96015.

Protocols and materials databases

DNASUi10126.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000216068; ENSP00000216068; ENSG00000100246.
GeneIDi10126.
KEGGihsa:10126.
UCSCiuc003awj.3. human.

Organism-specific databases

CTDi10126.
GeneCardsiGC22M039174.
HGNCiHGNC:2955. DNAL4.
HPAiHPA003647.
MIMi610565. gene.
616059. phenotype.
neXtProtiNX_O96015.
PharmGKBiPA27426.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG286480.
GeneTreeiENSGT00390000000378.
HOGENOMiHOG000211145.
HOVERGENiHBG104642.
InParanoidiO96015.
KOiK10412.
OMAiTACEKYS.
PhylomeDBiO96015.
TreeFamiTF324136.

Enzyme and pathway databases

ReactomeiREACT_12435. Retrograde neurotrophin signalling.

Miscellaneous databases

GeneWikiiDNAL4.
GenomeRNAii10126.
NextBioi38303.
PROiO96015.
SOURCEiSearch...

Gene expression databases

BgeeiO96015.
CleanExiHS_DNAL4.
ExpressionAtlasiO96015. baseline and differential.
GenevestigatoriO96015.

Family and domain databases

Gene3Di3.30.740.10. 1 hit.
InterProiIPR001372. Dynein_light_chain_typ-1/2.
[Graphical view]
PANTHERiPTHR11886. PTHR11886. 1 hit.
PfamiPF01221. Dynein_light. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Reevaluating human gene annotation: a second-generation analysis of chromosome 22."
    Collins J.E., Goward M.E., Cole C.G., Smink L.J., Huckle E.J., Knowles S., Bye J.M., Beare D.M., Dunham I.
    Genome Res. 13:27-36(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Testis.
  2. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
    Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
    Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  3. "Identification of a human proliferation inducing gene."
    Kim J.W.
    Submitted (OCT-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  5. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Lung.
  6. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
    Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
    Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  7. "The DNA sequence of human chromosome 22."
    Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M.
    , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H.
    Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  8. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  9. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Skin.
  10. "Identification of a homozygous splice site mutation in the dynein axonemal light chain 4 gene on 22q13.1 in a large consanguineous family from Pakistan with congenital mirror movement disorder."
    Ahmed I., Mittal K., Sheikh T.I., Vasli N., Rafiq M.A., Mikhailov A., Ohadi M., Mahmood H., Rouleau G.A., Bhatti A., Ayub M., Srour M., John P., Vincent J.B.
    Hum. Genet. 133:1419-1429(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN MRMV3.

Entry informationi

Entry nameiDNAL4_HUMAN
AccessioniPrimary (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 4, 2015
This is version 116 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 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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 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.