DYLT5_HUMAN
ID DYLT5_HUMAN Reviewed; 179 AA.
AC Q8N7M0; Q06YR9; Q5VYE1;
DT 01-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-MAY-2007, sequence version 2.
DT 03-AUG-2022, entry version 126.
DE RecName: Full=Dynein light chain Tctex-type 5;
DE AltName: Full=Tctex1 domain-containing protein 1;
GN Name=DYNLT5; Synonyms=TCTEX1D1;
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].
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT ILE-143.
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 [4]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 26-142.
RA Elsharawy A., Manaster C., Teuber M., Rosenstiel P., Kwiatkowski R.,
RA Huse K., Platzer M., Becker A., Nurnberg P., Schreiber S., Hampe J.;
RT "SNPSplicer -- systematic analysis of genotype-dependent splicing in
RT genotyped cDNAs.";
RL Submitted (FEB-2006) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP INTERACTION WITH ZMYND10.
RX PubMed=29601588; DOI=10.1371/journal.pgen.1007316;
RA Cho K.J., Noh S.H., Han S.M., Choi W.I., Kim H.Y., Yu S., Lee J.S.,
RA Rim J.H., Lee M.G., Hildebrandt F., Gee H.Y.;
RT "ZMYND10 stabilizes intermediate chain proteins in the cytoplasmic pre-
RT assembly of dynein arms.";
RL PLoS Genet. 14:E1007316-E1007316(2018).
RN [6]
RP VARIANT ASP-49.
RX PubMed=31896777; DOI=10.1038/s41431-019-0563-6;
RG CINRG Investigators;
RA Spitali P., Zaharieva I., Bohringer S., Hiller M., Chaouch A., Roos A.,
RA Scotton C., Claustres M., Bello L., McDonald C.M., Hoffman E.P., Koeks Z.,
RA Eka Suchiman H., Cirak S., Scoto M., Reza M., 't Hoen P.A.C., Niks E.H.,
RA Tuffery-Giraud S., Lochmueller H., Ferlini A., Muntoni F., Aartsma-Rus A.;
RT "TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular
RT dystrophy.";
RL Eur. J. Hum. Genet. 28:815-825(2020).
CC -!- SUBUNIT: Interacts with ZMYND10. {ECO:0000269|PubMed:29601588}.
CC -!- INTERACTION:
CC Q8N7M0; P50222: MEOX2; NbExp=3; IntAct=EBI-10267606, EBI-748397;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8N7M0-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8N7M0-2; Sequence=Not described;
CC -!- SIMILARITY: Belongs to the dynein light chain Tctex-type family.
CC {ECO:0000305}.
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DR EMBL; AK098192; BAC05257.1; -; mRNA.
DR EMBL; AL354978; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC106885; AAI06886.1; -; mRNA.
DR EMBL; DQ411321; ABD63924.1; -; Genomic_DNA.
DR CCDS; CCDS633.1; -. [Q8N7M0-1]
DR RefSeq; NP_689878.2; NM_152665.2. [Q8N7M0-1]
DR RefSeq; XP_016856055.1; XM_017000566.1. [Q8N7M0-1]
DR AlphaFoldDB; Q8N7M0; -.
DR SMR; Q8N7M0; -.
DR BioGRID; 128300; 7.
DR IntAct; Q8N7M0; 1.
DR STRING; 9606.ENSP00000282670; -.
DR iPTMnet; Q8N7M0; -.
DR PhosphoSitePlus; Q8N7M0; -.
DR BioMuta; TCTEX1D1; -.
DR DMDM; 146325745; -.
DR MassIVE; Q8N7M0; -.
DR PaxDb; Q8N7M0; -.
DR PeptideAtlas; Q8N7M0; -.
DR PRIDE; Q8N7M0; -.
DR Antibodypedia; 33388; 42 antibodies from 20 providers.
DR DNASU; 200132; -.
DR Ensembl; ENST00000282670.7; ENSP00000282670.2; ENSG00000152760.10. [Q8N7M0-1]
DR GeneID; 200132; -.
DR KEGG; hsa:200132; -.
DR MANE-Select; ENST00000282670.7; ENSP00000282670.2; NM_152665.3; NP_689878.2.
DR UCSC; uc001dcv.4; human. [Q8N7M0-1]
DR CTD; 200132; -.
DR GeneCards; DYNLT5; -.
DR HGNC; HGNC:26882; DYNLT5.
DR HPA; ENSG00000152760; Tissue enhanced (fallopian tube, liver).
DR neXtProt; NX_Q8N7M0; -.
DR OpenTargets; ENSG00000152760; -.
DR VEuPathDB; HostDB:ENSG00000152760; -.
DR eggNOG; KOG4108; Eukaryota.
DR GeneTree; ENSGT00940000160185; -.
DR HOGENOM; CLU_097204_4_0_1; -.
DR InParanoid; Q8N7M0; -.
DR OMA; SYMDEPS; -.
DR OrthoDB; 1613031at2759; -.
DR PhylomeDB; Q8N7M0; -.
DR TreeFam; TF313904; -.
DR PathwayCommons; Q8N7M0; -.
DR Reactome; R-HSA-5620924; Intraflagellar transport.
DR SignaLink; Q8N7M0; -.
DR BioGRID-ORCS; 200132; 13 hits in 1059 CRISPR screens.
DR GenomeRNAi; 200132; -.
DR Pharos; Q8N7M0; Tdark.
DR PRO; PR:Q8N7M0; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q8N7M0; protein.
DR Bgee; ENSG00000152760; Expressed in right uterine tube and 115 other tissues.
DR ExpressionAtlas; Q8N7M0; baseline and differential.
DR Genevisible; Q8N7M0; HS.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0005868; C:cytoplasmic dynein complex; IBA:GO_Central.
DR GO; GO:0045505; F:dynein intermediate chain binding; IBA:GO_Central.
DR GO; GO:0007018; P:microtubule-based movement; IBA:GO_Central.
DR Gene3D; 3.30.1140.40; -; 1.
DR InterPro; IPR005334; Tctex-1-like.
DR InterPro; IPR038586; Tctex-1-like_sf.
DR PANTHER; PTHR21255; PTHR21255; 1.
DR Pfam; PF03645; Tctex-1; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Reference proteome.
FT CHAIN 1..179
FT /note="Dynein light chain Tctex-type 5"
FT /id="PRO_0000284885"
FT VARIANT 49
FT /note="E -> D (may act as disease modifier for Duchenne
FT muscular dystrophy being associated with earlier loss of
FT ambulation; dbSNP:rs1060575)"
FT /evidence="ECO:0000269|PubMed:31896777"
FT /id="VAR_031852"
FT VARIANT 143
FT /note="L -> I (in dbSNP:rs2133173)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_055700"
SQ SEQUENCE 179 AA; 20730 MW; B462EE9D64B2E8FB CRC64;
MMMSDNAKGR AAHSWKKRGS ISSLSNHEFW RKEIHGRIKD SMSTVSYMEE PSQRDDISRL
TVQMENTYQL GPPKHFPVVT VNHILKDVVT SYLQVEEYEP ELCRQMTKTI SEVIKAQVKD
LMIPRYKLIV IVHIGQLNRQ SILIGSRCLW DPKSDTFSSY VFRNSSLFAL ANVYAVYLE
