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Q8N9Z9

- LMTD1_HUMAN

UniProt

Q8N9Z9 - LMTD1_HUMAN

Protein

Lamin tail domain-containing protein 1

Gene

LMNTD1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
    • BLAST
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    • History
      Entry version 79 (01 Oct 2014)
      Sequence version 2 (18 May 2010)
      Previous versions | rss
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    Functioni

    GO - Molecular functioni

    1. structural molecule activity Source: InterPro

    GO - Biological processi

    1. cell proliferation Source: Ensembl

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Lamin tail domain-containing protein 1
    Alternative name(s):
    Intermediate filament tail domain-containing protein 1
    Gene namesi
    Name:LMNTD1
    Synonyms:IFLTD1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:26683. LMNTD1.

    Subcellular locationi

    GO - Cellular componenti

    1. cytoplasm Source: Ensembl
    2. intermediate filament Source: UniProtKB-KW
    3. nuclear envelope Source: Ensembl

    Keywords - Cellular componenti

    Intermediate filament

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA162391895.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 388388Lamin tail domain-containing protein 1PRO_0000317247Add
    BLAST

    Proteomic databases

    PaxDbiQ8N9Z9.
    PRIDEiQ8N9Z9.

    PTM databases

    PhosphoSiteiQ8N9Z9.

    Expressioni

    Gene expression databases

    ArrayExpressiQ8N9Z9.
    BgeeiQ8N9Z9.
    CleanExiHS_IFLTD1.
    GenevestigatoriQ8N9Z9.

    Organism-specific databases

    HPAiHPA045911.

    Interactioni

    Protein-protein interaction databases

    BioGridi127760. 1 interaction.
    STRINGi9606.ENSP00000407353.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8N9Z9.
    SMRiQ8N9Z9. Positions 143-251.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini141 – 255115LTDAdd
    BLAST

    Sequence similaritiesi

    Belongs to the intermediate filament family.Curated
    Contains 1 LTD domain.Curated

    Phylogenomic databases

    eggNOGiNOG278780.
    HOGENOMiHOG000113053.
    HOVERGENiHBG071391.
    InParanoidiQ8N9Z9.
    OMAiFLPNIVM.
    PhylomeDBiQ8N9Z9.
    TreeFamiTF338357.

    Family and domain databases

    Gene3Di2.60.40.1260. 1 hit.
    InterProiIPR001664. IF.
    IPR001322. Lamin_tail_dom.
    [Graphical view]
    PANTHERiPTHR23239. PTHR23239. 1 hit.
    PfamiPF00932. LTD. 1 hit.
    [Graphical view]
    SUPFAMiSSF74853. SSF74853. 1 hit.

    Sequences (5)i

    Sequence statusi: Complete.

    This entry describes 5 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8N9Z9-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MLEGSWINRR EDKLGVYSLV HFSPKMLGSV ATTLPLSSSN SSGMPLGYYL    50
    SSPQISRVTI STTGQLTSKA TVGSCSRVEN SLDASPFSVP KKQDESPMIG 100
    DGEDYFLSLF GDSKKLTAHS NYTQKTLKYF SMILEEVGQF TSSSLGDVEI 150
    AEVNVKGLFV KLINSSLDKE MAIGDHILQQ NVNGQTISLY RFLPNIVMQA 200
    NSTVTVWAAA SEAKHQPPSD FLWKEQDKFR ASPDCITILC KPNGQAIAWY 250
    TPIHWKQAWE KLDADVEFNR CSVVSPTFRK RVFQWTASTA TITKEKQDQP 300
    KKDISNYQVE QAQVLLKREK EIPPTVFPNR SPWCQNPYVS AHPYCPLIEP 350
    HNTSTAGGRL DRQPRTRSTR PNRASGSKKK KTSESQKQ 388
    Length:388
    Mass (Da):43,408
    Last modified:May 18, 2010 - v2
    Checksum:iF5934FA7DA8E2170
    GO
    Isoform 2 (identifier: Q8N9Z9-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-97: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:291
    Mass (Da):33,043
    Checksum:iF62420E9E63B546B
    GO
    Isoform 3 (identifier: Q8N9Z9-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-63: Missing.
         64-83: GQLTSKATVGSCSRVENSLD → MQQPVRAGDIGVSRVQTHHN

    Show »
    Length:325
    Mass (Da):36,755
    Checksum:i72277BF2C649AE62
    GO
    Isoform 4 (identifier: Q8N9Z9-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-9: MLEGSWINR → MKDTQDIQEASKAMQNKVHEQEDKNEKQKQ
         206-245: Missing.

    Show »
    Length:369
    Mass (Da):41,395
    Checksum:iDA61CC73D814A55B
    GO
    Isoform 5 (identifier: Q8N9Z9-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-9: MLEGSWINR → MKDTQDIQEASKAMQNKVHEQEDKNEKQKQ

    Show »
    Length:409
    Mass (Da):45,891
    Checksum:i39B923E5391AC919
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti10 – 101R → K in BAC04132. (PubMed:14702039)Curated
    Sequence conflicti381 – 3811K → E in BAG59389. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti264 – 2641A → T.
    Corresponds to variant rs35450203 [ dbSNP | Ensembl ].
    VAR_049809
    Natural varianti267 – 2671E → G.
    Corresponds to variant rs34326830 [ dbSNP | Ensembl ].
    VAR_049810
    Natural varianti289 – 2891T → A.
    Corresponds to variant rs34732786 [ dbSNP | Ensembl ].
    VAR_049811
    Natural varianti290 – 2901A → T.
    Corresponds to variant rs34074522 [ dbSNP | Ensembl ].
    VAR_049812
    Natural varianti366 – 3661T → S.3 Publications
    Corresponds to variant rs1479500 [ dbSNP | Ensembl ].
    VAR_049813

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 9797Missing in isoform 2. 1 PublicationVSP_030922Add
    BLAST
    Alternative sequencei1 – 6363Missing in isoform 3. 1 PublicationVSP_040489Add
    BLAST
    Alternative sequencei1 – 99MLEGSWINR → MKDTQDIQEASKAMQNKVHE QEDKNEKQKQ in isoform 4 and isoform 5. 1 PublicationVSP_040490
    Alternative sequencei64 – 8320GQLTS…ENSLD → MQQPVRAGDIGVSRVQTHHN in isoform 3. 1 PublicationVSP_040491Add
    BLAST
    Alternative sequencei206 – 24540Missing in isoform 4. 1 PublicationVSP_040492Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK093323 mRNA. Translation: BAC04132.1.
    AK296816 mRNA. Translation: BAG59389.1.
    AK302292 mRNA. Translation: BAG63632.1.
    AK310411 mRNA. No translation available.
    AC022367 Genomic DNA. No translation available.
    CH471094 Genomic DNA. Translation: EAW96516.1.
    BC037957 mRNA. Translation: AAH37957.1.
    CCDSiCCDS44847.1. [Q8N9Z9-3]
    CCDS44848.1. [Q8N9Z9-4]
    CCDS44849.1. [Q8N9Z9-5]
    CCDS58218.1. [Q8N9Z9-2]
    CCDS8704.1. [Q8N9Z9-1]
    RefSeqiNP_001139199.1. NM_001145727.2. [Q8N9Z9-3]
    NP_001139200.1. NM_001145728.2. [Q8N9Z9-5]
    NP_001139201.1. NM_001145729.1. [Q8N9Z9-4]
    NP_001243195.1. NM_001256266.1. [Q8N9Z9-2]
    NP_689803.2. NM_152590.3. [Q8N9Z9-1]
    UniGeneiHs.44647.

    Genome annotation databases

    EnsembliENST00000282881; ENSP00000282881; ENSG00000152936. [Q8N9Z9-1]
    ENST00000413632; ENSP00000393150; ENSG00000152936. [Q8N9Z9-4]
    ENST00000445693; ENSP00000407043; ENSG00000152936. [Q8N9Z9-3]
    ENST00000458174; ENSP00000407353; ENSG00000152936. [Q8N9Z9-5]
    ENST00000539744; ENSP00000443132; ENSG00000152936. [Q8N9Z9-2]
    GeneIDi160492.
    KEGGihsa:160492.
    UCSCiuc001rgs.2. human. [Q8N9Z9-1]
    uc009zjc.2. human. [Q8N9Z9-4]
    uc010sji.1. human. [Q8N9Z9-5]
    uc010sjj.3. human. [Q8N9Z9-3]

    Polymorphism databases

    DMDMi296434538.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK093323 mRNA. Translation: BAC04132.1 .
    AK296816 mRNA. Translation: BAG59389.1 .
    AK302292 mRNA. Translation: BAG63632.1 .
    AK310411 mRNA. No translation available.
    AC022367 Genomic DNA. No translation available.
    CH471094 Genomic DNA. Translation: EAW96516.1 .
    BC037957 mRNA. Translation: AAH37957.1 .
    CCDSi CCDS44847.1. [Q8N9Z9-3 ]
    CCDS44848.1. [Q8N9Z9-4 ]
    CCDS44849.1. [Q8N9Z9-5 ]
    CCDS58218.1. [Q8N9Z9-2 ]
    CCDS8704.1. [Q8N9Z9-1 ]
    RefSeqi NP_001139199.1. NM_001145727.2. [Q8N9Z9-3 ]
    NP_001139200.1. NM_001145728.2. [Q8N9Z9-5 ]
    NP_001139201.1. NM_001145729.1. [Q8N9Z9-4 ]
    NP_001243195.1. NM_001256266.1. [Q8N9Z9-2 ]
    NP_689803.2. NM_152590.3. [Q8N9Z9-1 ]
    UniGenei Hs.44647.

    3D structure databases

    ProteinModelPortali Q8N9Z9.
    SMRi Q8N9Z9. Positions 143-251.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 127760. 1 interaction.
    STRINGi 9606.ENSP00000407353.

    PTM databases

    PhosphoSitei Q8N9Z9.

    Polymorphism databases

    DMDMi 296434538.

    Proteomic databases

    PaxDbi Q8N9Z9.
    PRIDEi Q8N9Z9.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000282881 ; ENSP00000282881 ; ENSG00000152936 . [Q8N9Z9-1 ]
    ENST00000413632 ; ENSP00000393150 ; ENSG00000152936 . [Q8N9Z9-4 ]
    ENST00000445693 ; ENSP00000407043 ; ENSG00000152936 . [Q8N9Z9-3 ]
    ENST00000458174 ; ENSP00000407353 ; ENSG00000152936 . [Q8N9Z9-5 ]
    ENST00000539744 ; ENSP00000443132 ; ENSG00000152936 . [Q8N9Z9-2 ]
    GeneIDi 160492.
    KEGGi hsa:160492.
    UCSCi uc001rgs.2. human. [Q8N9Z9-1 ]
    uc009zjc.2. human. [Q8N9Z9-4 ]
    uc010sji.1. human. [Q8N9Z9-5 ]
    uc010sjj.3. human. [Q8N9Z9-3 ]

    Organism-specific databases

    CTDi 160492.
    GeneCardsi GC12M025564.
    HGNCi HGNC:26683. LMNTD1.
    HPAi HPA045911.
    neXtProti NX_Q8N9Z9.
    PharmGKBi PA162391895.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG278780.
    HOGENOMi HOG000113053.
    HOVERGENi HBG071391.
    InParanoidi Q8N9Z9.
    OMAi FLPNIVM.
    PhylomeDBi Q8N9Z9.
    TreeFami TF338357.

    Miscellaneous databases

    GenomeRNAii 160492.
    NextBioi 87972.
    PROi Q8N9Z9.

    Gene expression databases

    ArrayExpressi Q8N9Z9.
    Bgeei Q8N9Z9.
    CleanExi HS_IFLTD1.
    Genevestigatori Q8N9Z9.

    Family and domain databases

    Gene3Di 2.60.40.1260. 1 hit.
    InterProi IPR001664. IF.
    IPR001322. Lamin_tail_dom.
    [Graphical view ]
    PANTHERi PTHR23239. PTHR23239. 1 hit.
    Pfami PF00932. LTD. 1 hit.
    [Graphical view ]
    SUPFAMi SSF74853. SSF74853. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 3; 4 AND 5), VARIANT SER-366.
      Tissue: Testis and Tongue.
    2. "The finished DNA sequence of human chromosome 12."
      Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.
      , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
      Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT SER-366.
    4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT SER-366.
      Tissue: Brain.

    Entry informationi

    Entry nameiLMTD1_HUMAN
    AccessioniPrimary (citable) accession number: Q8N9Z9
    Secondary accession number(s): B4DL27, B4DY70, Q8IY38
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 5, 2008
    Last sequence update: May 18, 2010
    Last modified: October 1, 2014
    This is version 79 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 12
      Human chromosome 12: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3