LITD1_HUMAN
ID LITD1_HUMAN Reviewed; 865 AA.
AC Q5T7N2; Q8NDA1; Q9NUV8; Q9NV78;
DT 23-OCT-2007, integrated into UniProtKB/Swiss-Prot.
DT 21-DEC-2004, sequence version 1.
DT 03-AUG-2022, entry version 134.
DE RecName: Full=LINE-1 type transposase domain-containing protein 1;
DE AltName: Full=ES cell-associated protein 11;
GN Name=L1TD1; Synonyms=ECAT11;
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 [MRNA], AND VARIANTS ALA-246; MET-309 AND ASN-329.
RA Yamanaka S.;
RL Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS ALA-246 AND MET-309.
RC TISSUE=Placenta;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS ALA-246; MET-309 AND
RP ASN-329.
RC TISSUE=Testis;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [4]
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS ALA-246; MET-309 AND
RP ASN-329.
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 [6]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT SER-2, PHOSPHORYLATION [LARGE SCALE
RP ANALYSIS] AT SER-2; THR-149; SER-154; SER-472; SER-476; SER-478; SER-518;
RP SER-561; SER-573; SER-640; SER-648 AND SER-665, CLEAVAGE OF INITIATOR
RP METHIONINE [LARGE SCALE ANALYSIS], AND IDENTIFICATION BY MASS SPECTROMETRY
RP [LARGE SCALE ANALYSIS].
RX PubMed=21406692; DOI=10.1126/scisignal.2001570;
RA Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T.,
RA Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.;
RT "System-wide temporal characterization of the proteome and phosphoproteome
RT of human embryonic stem cell differentiation.";
RL Sci. Signal. 4:RS3-RS3(2011).
CC -!- INTERACTION:
CC Q5T7N2; P22626: HNRNPA2B1; NbExp=2; IntAct=EBI-7216220, EBI-299649;
CC -!- SIMILARITY: Belongs to the transposase 22 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA91878.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAA91878.1; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence={ECO:0000305};
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DR EMBL; AB211065; BAD95492.1; -; mRNA.
DR EMBL; AK001746; BAA91878.1; ALT_SEQ; mRNA.
DR EMBL; AK001973; BAA92011.1; -; mRNA.
DR EMBL; AL834314; CAD38984.1; -; mRNA.
DR EMBL; AL162739; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC111559; AAI11560.1; -; mRNA.
DR CCDS; CCDS619.1; -.
DR RefSeq; NP_001158307.1; NM_001164835.1.
DR RefSeq; NP_061952.3; NM_019079.4.
DR PDB; 2LR6; NMR; -; A/B=235-321.
DR PDB; 3SOO; X-ray; 2.73 A; A/B/C=235-321.
DR PDBsum; 2LR6; -.
DR PDBsum; 3SOO; -.
DR AlphaFoldDB; Q5T7N2; -.
DR SMR; Q5T7N2; -.
DR BioGRID; 120072; 26.
DR IntAct; Q5T7N2; 327.
DR MINT; Q5T7N2; -.
DR STRING; 9606.ENSP00000419901; -.
DR GlyGen; Q5T7N2; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q5T7N2; -.
DR PhosphoSitePlus; Q5T7N2; -.
DR BioMuta; L1TD1; -.
DR DMDM; 74745406; -.
DR EPD; Q5T7N2; -.
DR jPOST; Q5T7N2; -.
DR MassIVE; Q5T7N2; -.
DR PaxDb; Q5T7N2; -.
DR PeptideAtlas; Q5T7N2; -.
DR PRIDE; Q5T7N2; -.
DR ProteomicsDB; 64668; -.
DR Antibodypedia; 33329; 83 antibodies from 23 providers.
DR DNASU; 54596; -.
DR Ensembl; ENST00000498273.2; ENSP00000419901.1; ENSG00000240563.2.
DR GeneID; 54596; -.
DR KEGG; hsa:54596; -.
DR MANE-Select; ENST00000498273.2; ENSP00000419901.1; NM_019079.5; NP_061952.3.
DR UCSC; uc001dae.6; human.
DR CTD; 54596; -.
DR DisGeNET; 54596; -.
DR GeneCards; L1TD1; -.
DR HGNC; HGNC:25595; L1TD1.
DR HPA; ENSG00000240563; Group enriched (brain, intestine, lymphoid tissue, placenta, testis).
DR neXtProt; NX_Q5T7N2; -.
DR OpenTargets; ENSG00000240563; -.
DR PharmGKB; PA145008170; -.
DR VEuPathDB; HostDB:ENSG00000240563; -.
DR eggNOG; ENOG502SRQ0; Eukaryota.
DR GeneTree; ENSGT01050000244818; -.
DR HOGENOM; CLU_336140_0_0_1; -.
DR InParanoid; Q5T7N2; -.
DR OMA; FEPKFLC; -.
DR OrthoDB; 455018at2759; -.
DR PhylomeDB; Q5T7N2; -.
DR TreeFam; TF351152; -.
DR PathwayCommons; Q5T7N2; -.
DR SignaLink; Q5T7N2; -.
DR BioGRID-ORCS; 54596; 15 hits in 1041 CRISPR screens.
DR EvolutionaryTrace; Q5T7N2; -.
DR GeneWiki; L1TD1; -.
DR GenomeRNAi; 54596; -.
DR Pharos; Q5T7N2; Tbio.
DR PRO; PR:Q5T7N2; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q5T7N2; protein.
DR Bgee; ENSG00000240563; Expressed in placenta and 65 other tissues.
DR Genevisible; Q5T7N2; HS.
DR GO; GO:0043231; C:intracellular membrane-bounded organelle; IDA:HPA.
DR GO; GO:1990904; C:ribonucleoprotein complex; IBA:GO_Central.
DR GO; GO:0003727; F:single-stranded RNA binding; IBA:GO_Central.
DR GO; GO:0032197; P:transposition, RNA-mediated; IBA:GO_Central.
DR Gene3D; 3.30.250.20; -; 2.
DR InterPro; IPR042566; L1_C.
DR InterPro; IPR035300; L1_dsRBD.
DR InterPro; IPR043636; L1_RRM_dom.
DR InterPro; IPR004244; Transposase_22.
DR PANTHER; PTHR11505; PTHR11505; 1.
DR Pfam; PF17490; Tnp_22_dsRBD; 2.
DR Pfam; PF02994; Transposase_22; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Acetylation; Coiled coil; Phosphoprotein; Reference proteome.
FT INIT_MET 1
FT /note="Removed"
FT /evidence="ECO:0007744|PubMed:21406692"
FT CHAIN 2..865
FT /note="LINE-1 type transposase domain-containing protein 1"
FT /id="PRO_0000307217"
FT REGION 370..508
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 590..612
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 642..684
FT /evidence="ECO:0000255"
FT COMPBIAS 379..441
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 484..507
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 2
FT /note="N-acetylserine"
FT /evidence="ECO:0007744|PubMed:21406692"
FT MOD_RES 2
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:21406692"
FT MOD_RES 149
FT /note="Phosphothreonine"
FT /evidence="ECO:0007744|PubMed:21406692"
FT MOD_RES 154
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:21406692"
FT MOD_RES 472
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:21406692"
FT MOD_RES 476
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:21406692"
FT MOD_RES 478
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:21406692"
FT MOD_RES 518
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:21406692"
FT MOD_RES 561
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:21406692"
FT MOD_RES 573
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:21406692"
FT MOD_RES 640
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:21406692"
FT MOD_RES 648
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:21406692"
FT MOD_RES 665
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:21406692"
FT VARIANT 27
FT /note="R -> S (in dbSNP:rs7552335)"
FT /id="VAR_035377"
FT VARIANT 246
FT /note="V -> A (in dbSNP:rs7542665)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005,
FT ECO:0000269|Ref.1"
FT /id="VAR_035378"
FT VARIANT 309
FT /note="V -> M (in dbSNP:rs7533274)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005,
FT ECO:0000269|Ref.1"
FT /id="VAR_035379"
FT VARIANT 329
FT /note="K -> N (in dbSNP:rs2457828)"
FT /evidence="ECO:0000269|PubMed:15489334,
FT ECO:0000269|PubMed:17974005, ECO:0000269|Ref.1"
FT /id="VAR_035380"
FT VARIANT 549
FT /note="P -> T (in dbSNP:rs11207933)"
FT /id="VAR_035381"
FT VARIANT 613
FT /note="T -> I (in dbSNP:rs2886644)"
FT /id="VAR_035382"
FT VARIANT 860
FT /note="L -> V (in dbSNP:rs11207934)"
FT /id="VAR_051094"
FT CONFLICT 548
FT /note="T -> I (in Ref. 2; BAA92011)"
FT /evidence="ECO:0000305"
FT TURN 248..250
FT /evidence="ECO:0007829|PDB:2LR6"
FT HELIX 258..269
FT /evidence="ECO:0007829|PDB:3SOO"
FT STRAND 282..285
FT /evidence="ECO:0007829|PDB:3SOO"
FT STRAND 287..295
FT /evidence="ECO:0007829|PDB:3SOO"
FT HELIX 296..304
FT /evidence="ECO:0007829|PDB:3SOO"
FT HELIX 307..310
FT /evidence="ECO:0007829|PDB:3SOO"
FT TURN 314..316
FT /evidence="ECO:0007829|PDB:3SOO"
SQ SEQUENCE 865 AA; 98850 MW; C7E33893A1E675CC CRC64;
MSDVSTSVQS KFARLAKKKE NITYMKREQL TETDKDIAPV LDLKCKDVSA IMNKFKVLME
IQDLMFEEMR ETLKNDLKAV LGGKATIPEV KNSENSSSRT EFQQIINLAL QKTGMVGKIE
GENSKIGDDN ENLTFKLEVN ELSGKLDNTN EYNSNDGKKL PQGESRSYEV MGSMEETLCN
IDDRDGNRNV HLEFTERESR KDGEDEFVKE MREERKFQKL KNKEEVLKAS REEKVLMDEG
AVLTLVADLS SATLDISKQW SNVFNILREN DFEPKFLCEV KLAFKCDGEI KTFSDLQSLR
KFASQKSSVK ELLKDVLPQK EEINQGGRKY GIQEKRDKTL IDSKHRAGEI TSDGLSFLFL
KEVKVAKPEE MKNLETQEEE FSELEELDEE ASGMEDDEDT SGLEEEEEEP SGLEEEEEEE
ASGLEEDEAS GLEEEEEQTS EQDSTFQGHT LVDAKHEVEI TSDGMETTFI DSVEDSESEE
EEEGKSSETG KVKTTSLTEK KASRRQKEIP FSYLVGDSGK KKLVKHQVVH KTQEEEETAV
PTSQGTGTPC LTLCLASPSK SLEMSHDEHK KHSHTNLSIS TGVTKLKKTE EKKHRTLHTE
ELTSKEADLT EETEENLRSS VINSIREIKE EIGNLKSSHS GVLEIENSVD DLSSRMDILE
ERIDSLEDQI EEFSKDTMQM TKQIISKERQ RDIEERSRSC NIRLIGIPEK ESYENRAEDI
IKEIIDENFA ELKKGSSLEI VSACRVPSKI DEKRLTPRHI LVKFWNSSDK EKIIRASRER
REITYQGTRI RLTADLSLDT LDARSKWSNV FKVLLEKGFN PRILYPAKMA FDFRGKTKVF
LSIEEFRDYV LHMPTLRELL GNNIP