DNAL4_HUMAN
ID DNAL4_HUMAN Reviewed; 105 AA.
AC O96015; Q6FGB2; Q6FGD0;
DT 20-JUN-2002, integrated into UniProtKB/Swiss-Prot.
DT 01-MAY-1999, sequence version 1.
DT 03-AUG-2022, entry version 165.
DE RecName: Full=Dynein axonemal light chain 4;
GN Name=DNAL4;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Testis;
RX PubMed=12529303; DOI=10.1101/gr.695703;
RA Collins J.E., Goward M.E., Cole C.G., Smink L.J., Huckle E.J., Knowles S.,
RA Bye J.M., Beare D.M., Dunham I.;
RT "Reevaluating human gene annotation: a second-generation analysis of
RT chromosome 22.";
RL Genome Res. 13:27-36(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RA Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S.,
RA Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y.,
RA Phelan M., Farmer A.;
RT "Cloning of human full-length CDSs in BD Creator(TM) system donor vector.";
RL Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RA Kim J.W.;
RT "Identification of a human proliferation inducing gene.";
RL Submitted (OCT-2003) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX PubMed=15461802; DOI=10.1186/gb-2004-5-10-r84;
RA Collins J.E., Wright C.L., Edwards C.A., Davis M.P., Grinham J.A.,
RA Cole C.G., Goward M.E., Aguado B., Mallya M., Mokrab Y., Huckle E.J.,
RA Beare D.M., Dunham I.;
RT "A genome annotation-driven approach to cloning the human ORFeome.";
RL Genome Biol. 5:R84.1-R84.11(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Lung;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RA Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.;
RT "Cloning of human full open reading frames in Gateway(TM) system entry
RT vector (pDONR201).";
RL Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=10591208; DOI=10.1038/990031;
RA Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M.,
RA Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C.,
RA Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E.,
RA Bridgeman A.M., Buck D., Burgess J., Burrill W.D., Burton J., Carder C.,
RA Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G.,
RA Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V.,
RA Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M.,
RA Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A.,
RA Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C.,
RA Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E.,
RA Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F.,
RA Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M.,
RA Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A.,
RA Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D.,
RA Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y.,
RA Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S.,
RA Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E.,
RA Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L.,
RA Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L.,
RA Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N.,
RA Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A.,
RA Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L.,
RA Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P.,
RA Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P.,
RA Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q.,
RA Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J.,
RA Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J.,
RA Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D.,
RA Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T.,
RA Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P.,
RA Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K.,
RA Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R.,
RA Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L.,
RA McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J.,
RA Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E.,
RA Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P.,
RA Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y.,
RA Wright H.;
RT "The DNA sequence of human chromosome 22.";
RL Nature 402:489-495(1999).
RN [8]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [9]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Skin;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [10]
RP INVOLVEMENT IN MRMV3.
RX PubMed=25098561; DOI=10.1007/s00439-014-1475-8;
RA Ahmed I., Mittal K., Sheikh T.I., Vasli N., Rafiq M.A., Mikhailov A.,
RA Ohadi M., Mahmood H., Rouleau G.A., Bhatti A., Ayub M., Srour M., John P.,
RA Vincent J.B.;
RT "Identification of a homozygous splice site mutation in the dynein axonemal
RT light chain 4 gene on 22q13.1 in a large consanguineous family from
RT Pakistan with congenital mirror movement disorder.";
RL Hum. Genet. 133:1419-1429(2014).
CC -!- FUNCTION: Force generating protein of respiratory cilia. Produces force
CC towards the minus ends of microtubules. Dynein has ATPase activity (By
CC similarity). {ECO:0000250}.
CC -!- SUBUNIT: Consists of at least two heavy chains and a number of
CC intermediate and light chains.
CC -!- INTERACTION:
CC O96015; Q13557: CAMK2D; NbExp=4; IntAct=EBI-742362, EBI-351018;
CC O96015; Q9UKJ5: CHIC2; NbExp=3; IntAct=EBI-742362, EBI-741528;
CC O96015; O96015: DNAL4; NbExp=3; IntAct=EBI-742362, EBI-742362;
CC O96015; P63167: DYNLL1; NbExp=3; IntAct=EBI-742362, EBI-349105;
CC O96015; Q96FJ2: DYNLL2; NbExp=6; IntAct=EBI-742362, EBI-742371;
CC O96015; Q5TD97: FHL5; NbExp=10; IntAct=EBI-742362, EBI-750641;
CC O96015; O95837: GNA14; NbExp=3; IntAct=EBI-742362, EBI-7951023;
CC O96015; P60328: KRTAP12-3; NbExp=3; IntAct=EBI-742362, EBI-11953334;
CC O96015; Q9BYQ0: KRTAP9-8; NbExp=3; IntAct=EBI-742362, EBI-11958364;
CC O96015; Q8NCF5-2: NFATC2IP; NbExp=6; IntAct=EBI-742362, EBI-12305293;
CC O96015; Q7Z3S9: NOTCH2NLA; NbExp=3; IntAct=EBI-742362, EBI-945833;
CC O96015; Q96HA8: NTAQ1; NbExp=3; IntAct=EBI-742362, EBI-741158;
CC O96015; Q9BRQ3: NUDT22; NbExp=7; IntAct=EBI-742362, EBI-10297093;
CC O96015; Q9BYV2: TRIM54; NbExp=3; IntAct=EBI-742362, EBI-2130429;
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme
CC {ECO:0000250}.
CC -!- DISEASE: Mirror movements 3 (MRMV3) [MIM:616059]: A disorder
CC characterized by contralateral involuntary movements that mirror
CC voluntary ones. While mirror movements are occasionally found in young
CC children, persistence beyond the age of 10 is abnormal. Mirror
CC movements occur more commonly in the upper extremities.
CC {ECO:0000269|PubMed:25098561}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the dynein light chain family. {ECO:0000305}.
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DR EMBL; AL035366; CAA23018.1; -; mRNA.
DR EMBL; BT009847; AAP88849.1; -; mRNA.
DR EMBL; AY453399; AAS47516.1; -; mRNA.
DR EMBL; CR456487; CAG30373.1; -; mRNA.
DR EMBL; AK290566; BAF83255.1; -; mRNA.
DR EMBL; CR542177; CAG46974.1; -; mRNA.
DR EMBL; CR542195; CAG46992.1; -; mRNA.
DR EMBL; AL008583; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471095; EAW60272.1; -; Genomic_DNA.
DR EMBL; BC002968; AAH02968.1; -; mRNA.
DR CCDS; CCDS13979.1; -.
DR RefSeq; NP_005731.1; NM_005740.2.
DR AlphaFoldDB; O96015; -.
DR SMR; O96015; -.
DR BioGRID; 115430; 40.
DR IntAct; O96015; 15.
DR MINT; O96015; -.
DR STRING; 9606.ENSP00000216068; -.
DR iPTMnet; O96015; -.
DR PhosphoSitePlus; O96015; -.
DR BioMuta; DNAL4; -.
DR EPD; O96015; -.
DR MassIVE; O96015; -.
DR PaxDb; O96015; -.
DR PeptideAtlas; O96015; -.
DR PRIDE; O96015; -.
DR ProteomicsDB; 51197; -.
DR Antibodypedia; 329; 272 antibodies from 29 providers.
DR DNASU; 10126; -.
DR Ensembl; ENST00000216068.9; ENSP00000216068.4; ENSG00000100246.13.
DR GeneID; 10126; -.
DR KEGG; hsa:10126; -.
DR MANE-Select; ENST00000216068.9; ENSP00000216068.4; NM_005740.3; NP_005731.1.
DR UCSC; uc003awj.4; human.
DR CTD; 10126; -.
DR DisGeNET; 10126; -.
DR GeneCards; DNAL4; -.
DR HGNC; HGNC:2955; DNAL4.
DR HPA; ENSG00000100246; Low tissue specificity.
DR MalaCards; DNAL4; -.
DR MIM; 610565; gene.
DR MIM; 616059; phenotype.
DR neXtProt; NX_O96015; -.
DR OpenTargets; ENSG00000100246; -.
DR Orphanet; 238722; Familial congenital mirror movements.
DR PharmGKB; PA27426; -.
DR VEuPathDB; HostDB:ENSG00000100246; -.
DR eggNOG; KOG3430; Eukaryota.
DR GeneTree; ENSGT00940000161265; -.
DR HOGENOM; CLU_070944_3_0_1; -.
DR InParanoid; O96015; -.
DR OMA; YMFFGGN; -.
DR OrthoDB; 1520814at2759; -.
DR PhylomeDB; O96015; -.
DR TreeFam; TF324136; -.
DR PathwayCommons; O96015; -.
DR Reactome; R-HSA-177504; Retrograde neurotrophin signalling.
DR SignaLink; O96015; -.
DR BioGRID-ORCS; 10126; 10 hits in 1074 CRISPR screens.
DR ChiTaRS; DNAL4; human.
DR GeneWiki; DNAL4; -.
DR GenomeRNAi; 10126; -.
DR Pharos; O96015; Tbio.
DR PRO; PR:O96015; -.
DR Proteomes; UP000005640; Chromosome 22.
DR RNAct; O96015; protein.
DR Bgee; ENSG00000100246; Expressed in left testis and 129 other tissues.
DR ExpressionAtlas; O96015; baseline and differential.
DR Genevisible; O96015; HS.
DR GO; GO:0005929; C:cilium; IEA:UniProtKB-KW.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-KW.
DR GO; GO:0030286; C:dynein complex; IEA:UniProtKB-KW.
DR GO; GO:0005874; C:microtubule; IEA:UniProtKB-KW.
DR GO; GO:0005886; C:plasma membrane; TAS:Reactome.
DR GO; GO:0042802; F:identical protein binding; IPI:IntAct.
DR GO; GO:0003777; F:microtubule motor activity; TAS:Reactome.
DR GO; GO:0007018; P:microtubule-based movement; TAS:Reactome.
DR Gene3D; 3.30.740.10; -; 1.
DR InterPro; IPR037177; DLC_sf.
DR InterPro; IPR001372; Dynein_light_chain_typ-1/2.
DR PANTHER; PTHR11886; PTHR11886; 1.
DR Pfam; PF01221; Dynein_light; 1.
DR SMART; SM01375; Dynein_light; 1.
DR SUPFAM; SSF54648; SSF54648; 1.
PE 1: Evidence at protein level;
KW Cell projection; Cilium; Cytoplasm; Cytoskeleton; Dynein; Microtubule;
KW Motor protein; Reference proteome.
FT CHAIN 1..105
FT /note="Dynein axonemal light chain 4"
FT /id="PRO_0000195136"
FT CONFLICT 58
FT /note="K -> N (in Ref. 6; CAG46992)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 105 AA; 12009 MW; D0AE8929DEB2AC06 CRC64;
MGETEGKKDE ADYKRLQTFP LVRHSDMPEE MRVETMELCV TACEKFSNNN ESAAKMIKET
MDKKFGSSWH VVIGEGFGFE ITHEVKNLLY LYFGGTLAVC VWKCS
