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   02-JUN-2021, entry version 161.
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   SMR; O96015; -.
DR   BioGRID; 115430; 40.
DR   IntAct; O96015; 15.
DR   MINT; O96015; -.
DR   STRING; 9606.ENSP00000216068; -.
DR   iPTMnet; 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; 265 antibodies.
DR   DNASU; 10126; -.
DR   Ensembl; ENST00000216068; ENSP00000216068; ENSG00000100246.
DR   GeneID; 10126; -.
DR   KEGG; hsa:10126; -.
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:ENSG00000100246.12; -.
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   BioGRID-ORCS; 10126; 6 hits in 993 CRISPR screens.
DR   ChiTaRS; DNAL4; human.
DR   GeneWiki; DNAL4; -.
DR   GenomeRNAi; 10126; -.
DR   Pharos; O96015; Tdark.
DR   PRO; PR:O96015; -.
DR   Proteomes; UP000005640; Chromosome 22.
DR   RNAct; O96015; protein.
DR   Bgee; ENSG00000100246; Expressed in left testis and 171 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; IBA:GO_Central.
DR   GO; GO:0005874; C:microtubule; IEA:UniProtKB-KW.
DR   GO; GO:0005886; C:plasma membrane; TAS:Reactome.
DR   GO; GO:0045505; F:dynein intermediate chain binding; IBA:GO_Central.
DR   GO; GO:0051959; F:dynein light intermediate chain binding; IBA:GO_Central.
DR   GO; GO:0042802; F:identical protein binding; IPI:IntAct.
DR   GO; GO:0007018; P:microtubule-based movement; TAS:Reactome.
DR   GO; GO:2000582; P:positive regulation of ATP-dependent microtubule motor activity, plus-end-directed; IBA:GO_Central.
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
//