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Q8N9Z9

- LMTD1_HUMAN

UniProt

Q8N9Z9 - LMTD1_HUMAN

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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

Functioni

GO - Molecular functioni

  1. structural molecule activity Source: InterPro

GO - Biological processi

  1. cell proliferation Source: Ensembl
Complete GO annotation...

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
Complete GO annotation...

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

BgeeiQ8N9Z9.
CleanExiHS_IFLTD1.
ExpressionAtlasiQ8N9Z9. baseline and differential.
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.
GeneTreeiENSGT00450000040420.
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

        10         20         30         40         50
MLEGSWINRR EDKLGVYSLV HFSPKMLGSV ATTLPLSSSN SSGMPLGYYL
60 70 80 90 100
SSPQISRVTI STTGQLTSKA TVGSCSRVEN SLDASPFSVP KKQDESPMIG
110 120 130 140 150
DGEDYFLSLF GDSKKLTAHS NYTQKTLKYF SMILEEVGQF TSSSLGDVEI
160 170 180 190 200
AEVNVKGLFV KLINSSLDKE MAIGDHILQQ NVNGQTISLY RFLPNIVMQA
210 220 230 240 250
NSTVTVWAAA SEAKHQPPSD FLWKEQDKFR ASPDCITILC KPNGQAIAWY
260 270 280 290 300
TPIHWKQAWE KLDADVEFNR CSVVSPTFRK RVFQWTASTA TITKEKQDQP
310 320 330 340 350
KKDISNYQVE QAQVLLKREK EIPPTVFPNR SPWCQNPYVS AHPYCPLIEP
360 370 380
HNTSTAGGRL DRQPRTRSTR PNRASGSKKK KTSESQKQ
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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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.
GeneTreei ENSGT00450000040420.
HOGENOMi HOG000113053.
HOVERGENi HBG071391.
InParanoidi Q8N9Z9.
OMAi FLPNIVM.
PhylomeDBi Q8N9Z9.
TreeFami TF338357.

Miscellaneous databases

GenomeRNAii 160492.
NextBioi 87972.
PROi Q8N9Z9.

Gene expression databases

Bgeei Q8N9Z9.
CleanExi HS_IFLTD1.
ExpressionAtlasi Q8N9Z9. baseline and differential.
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 29, 2014
This is version 80 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