LMTD1_HUMAN
ID LMTD1_HUMAN Reviewed; 388 AA.
AC Q8N9Z9; B4DL27; B4DY70; Q8IY38;
DT 05-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 2.
DT 03-AUG-2022, entry version 126.
DE RecName: Full=Lamin tail domain-containing protein 1;
DE AltName: Full=Intermediate filament tail domain-containing protein 1;
GN Name=LMNTD1; Synonyms=IFLTD1;
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] (ISOFORMS 1; 3; 4 AND 5), AND
RP VARIANT SER-366.
RC TISSUE=Testis, and Tongue;
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=16541075; DOI=10.1038/nature04569;
RA Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y.,
RA Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C.,
RA Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C.,
RA Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R.,
RA Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E.,
RA Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y.,
RA Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G.,
RA Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H.,
RA Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S.,
RA Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M.,
RA Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H.,
RA Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q.,
RA Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V.,
RA Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E.,
RA Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K.,
RA Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D.,
RA Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R.,
RA David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E.,
RA D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N.,
RA Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N.,
RA Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R.,
RA Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S.,
RA LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H.,
RA Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P.,
RA Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G.,
RA Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E.,
RA Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S.,
RA Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O.,
RA Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J.,
RA Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A.,
RA Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M.,
RA Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I.,
RA Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A.,
RA Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y.,
RA Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A.,
RA Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F.,
RA Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L.,
RA Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G.,
RA Gibbs R.A.;
RT "The finished DNA sequence of human chromosome 12.";
RL Nature 440:346-351(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT SER-366.
RA Mural R.J., Istrail S., Sutton G.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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT SER-366.
RC TISSUE=Brain;
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).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=5;
CC Name=1;
CC IsoId=Q8N9Z9-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8N9Z9-2; Sequence=VSP_030922;
CC Name=3;
CC IsoId=Q8N9Z9-3; Sequence=VSP_040489, VSP_040491;
CC Name=4;
CC IsoId=Q8N9Z9-4; Sequence=VSP_040490, VSP_040492;
CC Name=5;
CC IsoId=Q8N9Z9-5; Sequence=VSP_040490;
CC -!- SIMILARITY: Belongs to the intermediate filament family. {ECO:0000305}.
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DR EMBL; AK093323; BAC04132.1; -; mRNA.
DR EMBL; AK296816; BAG59389.1; -; mRNA.
DR EMBL; AK302292; BAG63632.1; -; mRNA.
DR EMBL; AK310411; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AC022367; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471094; EAW96516.1; -; Genomic_DNA.
DR EMBL; BC037957; AAH37957.1; -; mRNA.
DR CCDS; CCDS44847.1; -. [Q8N9Z9-3]
DR CCDS; CCDS44848.1; -. [Q8N9Z9-4]
DR CCDS; CCDS44849.1; -. [Q8N9Z9-5]
DR CCDS; CCDS58218.1; -. [Q8N9Z9-2]
DR CCDS; CCDS8704.1; -. [Q8N9Z9-1]
DR RefSeq; NP_001139199.1; NM_001145727.2. [Q8N9Z9-3]
DR RefSeq; NP_001139200.1; NM_001145728.2. [Q8N9Z9-5]
DR RefSeq; NP_001139201.1; NM_001145729.1. [Q8N9Z9-4]
DR RefSeq; NP_001243195.1; NM_001256266.1. [Q8N9Z9-2]
DR RefSeq; NP_689803.2; NM_152590.3. [Q8N9Z9-1]
DR RefSeq; XP_011518877.1; XM_011520575.1. [Q8N9Z9-5]
DR RefSeq; XP_011518878.1; XM_011520576.2. [Q8N9Z9-5]
DR RefSeq; XP_011518879.1; XM_011520577.2. [Q8N9Z9-5]
DR RefSeq; XP_011518880.1; XM_011520578.2. [Q8N9Z9-5]
DR RefSeq; XP_011518882.1; XM_011520580.1. [Q8N9Z9-4]
DR RefSeq; XP_016874380.1; XM_017018891.1. [Q8N9Z9-5]
DR AlphaFoldDB; Q8N9Z9; -.
DR SMR; Q8N9Z9; -.
DR BioGRID; 127760; 3.
DR IntAct; Q8N9Z9; 2.
DR STRING; 9606.ENSP00000407353; -.
DR iPTMnet; Q8N9Z9; -.
DR PhosphoSitePlus; Q8N9Z9; -.
DR BioMuta; LMNTD1; -.
DR DMDM; 296434538; -.
DR MassIVE; Q8N9Z9; -.
DR PaxDb; Q8N9Z9; -.
DR PeptideAtlas; Q8N9Z9; -.
DR PRIDE; Q8N9Z9; -.
DR ProteomicsDB; 72615; -. [Q8N9Z9-1]
DR ProteomicsDB; 72616; -. [Q8N9Z9-2]
DR ProteomicsDB; 72617; -. [Q8N9Z9-3]
DR ProteomicsDB; 72618; -. [Q8N9Z9-4]
DR ProteomicsDB; 72619; -. [Q8N9Z9-5]
DR Antibodypedia; 42350; 116 antibodies from 21 providers.
DR DNASU; 160492; -.
DR Ensembl; ENST00000282881.10; ENSP00000282881.6; ENSG00000152936.11. [Q8N9Z9-1]
DR Ensembl; ENST00000413632.6; ENSP00000393150.2; ENSG00000152936.11. [Q8N9Z9-4]
DR Ensembl; ENST00000445693.5; ENSP00000407043.1; ENSG00000152936.11. [Q8N9Z9-3]
DR Ensembl; ENST00000458174.7; ENSP00000407353.2; ENSG00000152936.11. [Q8N9Z9-5]
DR Ensembl; ENST00000539744.5; ENSP00000443132.1; ENSG00000152936.11. [Q8N9Z9-2]
DR GeneID; 160492; -.
DR KEGG; hsa:160492; -.
DR MANE-Select; ENST00000458174.7; ENSP00000407353.2; NM_001145728.2; NP_001139200.1. [Q8N9Z9-5]
DR UCSC; uc001rgs.3; human. [Q8N9Z9-1]
DR CTD; 160492; -.
DR DisGeNET; 160492; -.
DR GeneCards; LMNTD1; -.
DR HGNC; HGNC:26683; LMNTD1.
DR HPA; ENSG00000152936; Group enriched (brain, fallopian tube, testis).
DR neXtProt; NX_Q8N9Z9; -.
DR OpenTargets; ENSG00000152936; -.
DR PharmGKB; PA162391895; -.
DR VEuPathDB; HostDB:ENSG00000152936; -.
DR eggNOG; KOG0977; Eukaryota.
DR GeneTree; ENSGT00910000144343; -.
DR HOGENOM; CLU_048894_1_0_1; -.
DR InParanoid; Q8N9Z9; -.
DR OMA; HWKQVWE; -.
DR OrthoDB; 716378at2759; -.
DR PhylomeDB; Q8N9Z9; -.
DR TreeFam; TF338357; -.
DR PathwayCommons; Q8N9Z9; -.
DR SignaLink; Q8N9Z9; -.
DR BioGRID-ORCS; 160492; 10 hits in 1059 CRISPR screens.
DR ChiTaRS; LMNTD1; human.
DR GenomeRNAi; 160492; -.
DR Pharos; Q8N9Z9; Tdark.
DR PRO; PR:Q8N9Z9; -.
DR Proteomes; UP000005640; Chromosome 12.
DR RNAct; Q8N9Z9; protein.
DR Bgee; ENSG00000152936; Expressed in right uterine tube and 93 other tissues.
DR ExpressionAtlas; Q8N9Z9; baseline and differential.
DR Genevisible; Q8N9Z9; HS.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0005882; C:intermediate filament; IEA:UniProtKB-KW.
DR GO; GO:0005635; C:nuclear envelope; IBA:GO_Central.
DR GO; GO:0008283; P:cell population proliferation; IEA:Ensembl.
DR Gene3D; 2.60.40.1260; -; 1.
DR InterPro; IPR001322; Lamin_tail_dom.
DR InterPro; IPR036415; Lamin_tail_dom_sf.
DR InterPro; IPR042840; LMNTD1.
DR PANTHER; PTHR47012; PTHR47012; 1.
DR Pfam; PF00932; LTD; 1.
DR SUPFAM; SSF74853; SSF74853; 1.
DR PROSITE; PS51841; LTD; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Intermediate filament; Reference proteome.
FT CHAIN 1..388
FT /note="Lamin tail domain-containing protein 1"
FT /id="PRO_0000317247"
FT DOMAIN 136..254
FT /note="LTD"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01187"
FT REGION 349..388
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..97
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_030922"
FT VAR_SEQ 1..63
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_040489"
FT VAR_SEQ 1..9
FT /note="MLEGSWINR -> MKDTQDIQEASKAMQNKVHEQEDKNEKQKQ (in
FT isoform 4 and isoform 5)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_040490"
FT VAR_SEQ 64..83
FT /note="GQLTSKATVGSCSRVENSLD -> MQQPVRAGDIGVSRVQTHHN (in
FT isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_040491"
FT VAR_SEQ 206..245
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_040492"
FT VARIANT 264
FT /note="A -> T (in dbSNP:rs35450203)"
FT /id="VAR_049809"
FT VARIANT 267
FT /note="E -> G (in dbSNP:rs34326830)"
FT /id="VAR_049810"
FT VARIANT 289
FT /note="T -> A (in dbSNP:rs34732786)"
FT /id="VAR_049811"
FT VARIANT 290
FT /note="A -> T (in dbSNP:rs34074522)"
FT /id="VAR_049812"
FT VARIANT 366
FT /note="T -> S (in dbSNP:rs1479500)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3"
FT /id="VAR_049813"
FT CONFLICT 10
FT /note="R -> K (in Ref. 1; BAC04132)"
FT /evidence="ECO:0000305"
FT CONFLICT 381
FT /note="K -> E (in Ref. 1; BAG59389)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 388 AA; 43408 MW; F5934FA7DA8E2170 CRC64;
MLEGSWINRR EDKLGVYSLV HFSPKMLGSV ATTLPLSSSN SSGMPLGYYL SSPQISRVTI
STTGQLTSKA TVGSCSRVEN SLDASPFSVP KKQDESPMIG DGEDYFLSLF GDSKKLTAHS
NYTQKTLKYF SMILEEVGQF TSSSLGDVEI AEVNVKGLFV KLINSSLDKE MAIGDHILQQ
NVNGQTISLY RFLPNIVMQA NSTVTVWAAA SEAKHQPPSD FLWKEQDKFR ASPDCITILC
KPNGQAIAWY TPIHWKQAWE KLDADVEFNR CSVVSPTFRK RVFQWTASTA TITKEKQDQP
KKDISNYQVE QAQVLLKREK EIPPTVFPNR SPWCQNPYVS AHPYCPLIEP HNTSTAGGRL
DRQPRTRSTR PNRASGSKKK KTSESQKQ
