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Protein

Lamin tail domain-containing protein 1

Gene

LMNTD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript leveli

Functioni

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000152936-MONOMER.

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
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:26683. LMNTD1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Intermediate filament

Pathology & Biotechi

Organism-specific databases

DisGeNETi160492.
OpenTargetsiENSG00000152936.
PharmGKBiPA162391895.

Polymorphism and mutation databases

BioMutaiIFLTD1.
DMDMi296434538.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003172471 – 388Lamin tail domain-containing protein 1Add BLAST388

Proteomic databases

PaxDbiQ8N9Z9.
PeptideAtlasiQ8N9Z9.
PRIDEiQ8N9Z9.

PTM databases

iPTMnetiQ8N9Z9.
PhosphoSitePlusiQ8N9Z9.

Expressioni

Gene expression databases

BgeeiENSG00000152936.
CleanExiHS_IFLTD1.
ExpressionAtlasiQ8N9Z9. baseline and differential.
GenevisibleiQ8N9Z9. HS.

Organism-specific databases

HPAiHPA045911.

Interactioni

Protein-protein interaction databases

BioGridi127760. 2 interactors.
STRINGi9606.ENSP00000407353.

Structurei

3D structure databases

ProteinModelPortaliQ8N9Z9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini141 – 255LTDAdd BLAST115

Sequence similaritiesi

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

Phylogenomic databases

eggNOGiKOG0977. Eukaryota.
ENOG410Y2H6. LUCA.
GeneTreeiENSGT00830000128282.
HOGENOMiHOG000113053.
HOVERGENiHBG071391.
InParanoidiQ8N9Z9.
OMAiYCPLIEP.
OrthoDBiEOG091G0H1H.
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. AlignAdd to basket

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)DescriptionActionsGraphical viewLength
Sequence conflicti10R → K in BAC04132 (PubMed:14702039).Curated1
Sequence conflicti381K → E in BAG59389 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_049809264A → T.Corresponds to variant rs35450203dbSNPEnsembl.1
Natural variantiVAR_049810267E → G.Corresponds to variant rs34326830dbSNPEnsembl.1
Natural variantiVAR_049811289T → A.Corresponds to variant rs34732786dbSNPEnsembl.1
Natural variantiVAR_049812290A → T.Corresponds to variant rs34074522dbSNPEnsembl.1
Natural variantiVAR_049813366T → S.3 PublicationsCorresponds to variant rs1479500dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0309221 – 97Missing in isoform 2. 1 PublicationAdd BLAST97
Alternative sequenceiVSP_0404891 – 63Missing in isoform 3. 1 PublicationAdd BLAST63
Alternative sequenceiVSP_0404901 – 9MLEGSWINR → MKDTQDIQEASKAMQNKVHE QEDKNEKQKQ in isoform 4 and isoform 5. 1 Publication9
Alternative sequenceiVSP_04049164 – 83GQLTS…ENSLD → MQQPVRAGDIGVSRVQTHHN in isoform 3. 1 PublicationAdd BLAST20
Alternative sequenceiVSP_040492206 – 245Missing in isoform 4. 1 PublicationAdd BLAST40

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]
XP_011518877.1. XM_011520575.1. [Q8N9Z9-5]
XP_011518878.1. XM_011520576.2. [Q8N9Z9-5]
XP_011518879.1. XM_011520577.2. [Q8N9Z9-5]
XP_011518880.1. XM_011520578.2. [Q8N9Z9-5]
XP_011518882.1. XM_011520580.1. [Q8N9Z9-4]
XP_016874380.1. XM_017018891.1. [Q8N9Z9-5]
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.3. human. [Q8N9Z9-1]

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.
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]
XP_011518877.1. XM_011520575.1. [Q8N9Z9-5]
XP_011518878.1. XM_011520576.2. [Q8N9Z9-5]
XP_011518879.1. XM_011520577.2. [Q8N9Z9-5]
XP_011518880.1. XM_011520578.2. [Q8N9Z9-5]
XP_011518882.1. XM_011520580.1. [Q8N9Z9-4]
XP_016874380.1. XM_017018891.1. [Q8N9Z9-5]
UniGeneiHs.44647.

3D structure databases

ProteinModelPortaliQ8N9Z9.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi127760. 2 interactors.
STRINGi9606.ENSP00000407353.

PTM databases

iPTMnetiQ8N9Z9.
PhosphoSitePlusiQ8N9Z9.

Polymorphism and mutation databases

BioMutaiIFLTD1.
DMDMi296434538.

Proteomic databases

PaxDbiQ8N9Z9.
PeptideAtlasiQ8N9Z9.
PRIDEiQ8N9Z9.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

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.3. human. [Q8N9Z9-1]

Organism-specific databases

CTDi160492.
DisGeNETi160492.
GeneCardsiLMNTD1.
HGNCiHGNC:26683. LMNTD1.
HPAiHPA045911.
neXtProtiNX_Q8N9Z9.
OpenTargetsiENSG00000152936.
PharmGKBiPA162391895.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0977. Eukaryota.
ENOG410Y2H6. LUCA.
GeneTreeiENSGT00830000128282.
HOGENOMiHOG000113053.
HOVERGENiHBG071391.
InParanoidiQ8N9Z9.
OMAiYCPLIEP.
OrthoDBiEOG091G0H1H.
PhylomeDBiQ8N9Z9.
TreeFamiTF338357.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000152936-MONOMER.

Miscellaneous databases

GenomeRNAii160492.
PROiQ8N9Z9.

Gene expression databases

BgeeiENSG00000152936.
CleanExiHS_IFLTD1.
ExpressionAtlasiQ8N9Z9. baseline and differential.
GenevisibleiQ8N9Z9. HS.

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.
ProtoNetiSearch...

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: November 2, 2016
This is version 95 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.