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Protein

Leiomodin-1

Gene

LMOD1

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

Functioni

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Enzyme and pathway databases

ReactomeiR-HSA-445355. Smooth Muscle Contraction.

Names & Taxonomyi

Protein namesi
Recommended name:
Leiomodin-1
Alternative name(s):
64 kDa autoantigen 1D
64 kDa autoantigen 1D3
64 kDa autoantigen D1
Leiomodin, muscle form
Smooth muscle leiomodin
Short name:
SM-Lmod
Thyroid-associated ophthalmopathy autoantigen
Gene namesi
Name:LMOD1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:6647. LMOD1.

Subcellular locationi

  • Cytoplasm 1 Publication
  • Cytoplasmcytoskeleton 1 Publication

GO - Cellular componenti

  • cytoplasm Source: HPA
  • cytosol Source: Reactome
  • membrane Source: ProtInc
  • striated muscle thin filament Source: GO_Central
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA30413.

Polymorphism and mutation databases

BioMutaiLMOD1.
DMDMi325511399.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 600600Leiomodin-1PRO_0000084453Add
BLAST

Proteomic databases

MaxQBiP29536.
PaxDbiP29536.
PRIDEiP29536.

PTM databases

iPTMnetiP29536.
PhosphoSiteiP29536.

Expressioni

Tissue specificityi

Smooth muscle (heart, skeletal muscle, colon and small intestine), a subset of striated muscle fibers, and at low level in thyroid.2 Publications

Gene expression databases

BgeeiP29536.
CleanExiHS_LMOD1.
ExpressionAtlasiP29536. baseline and differential.
GenevisibleiP29536. HS.

Organism-specific databases

HPAiHPA028325.
HPA028435.
HPA030097.

Interactioni

GO - Molecular functioni

Protein-protein interaction databases

STRINGi9606.ENSP00000356257.

Structurei

Secondary structure

1
600
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi319 – 3268Combined sources
Beta strandi334 – 3363Combined sources
Helixi345 – 35511Combined sources
Beta strandi363 – 3653Combined sources
Helixi373 – 38513Combined sources
Beta strandi391 – 3933Combined sources
Helixi401 – 41010Combined sources
Helixi411 – 4133Combined sources
Beta strandi419 – 4213Combined sources
Helixi431 – 44111Combined sources
Beta strandi449 – 4513Combined sources
Helixi457 – 48428Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4Z79X-ray1.54A299-486[»]
4Z8GX-ray2.10A364-486[»]
4Z94X-ray2.40G364-486[»]
ProteinModelPortaliP29536.
SMRiP29536. Positions 319-479.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati165 – 180161Add
BLAST
Repeati181 – 196162Add
BLAST
Repeati197 – 212163Add
BLAST
Repeati213 – 228164Add
BLAST
Repeati229 – 244165Add
BLAST
Repeati245 – 260166Add
BLAST
Repeati261 – 276167Add
BLAST
Repeati277 – 293178Add
BLAST
Domaini574 – 59320WH2PROSITE-ProRule annotationAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni165 – 2931298 X approximate tandem repeatsAdd
BLAST
Regioni508 – 527205 X 4 AA approximate tandem repeatsAdd
BLAST

Sequence similaritiesi

Belongs to the tropomodulin family.Curated
Contains 1 WH2 domain.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG3735. Eukaryota.
ENOG410YAHM. LUCA.
GeneTreeiENSGT00760000119226.
HOGENOMiHOG000261624.
HOVERGENiHBG006280.
InParanoidiP29536.
OMAiRNQTDKQ.
OrthoDBiEOG725DHJ.
PhylomeDBiP29536.
TreeFamiTF315841.

Family and domain databases

Gene3Di3.80.10.10. 1 hit.
InterProiIPR032675. L_dom-like.
IPR030136. LMOD1.
IPR004934. TMOD.
IPR003124. WH2_dom.
[Graphical view]
PANTHERiPTHR10901. PTHR10901. 2 hits.
PTHR10901:SF5. PTHR10901:SF5. 2 hits.
PfamiPF03250. Tropomodulin. 1 hit.
PF02205. WH2. 1 hit.
[Graphical view]
SMARTiSM00246. WH2. 1 hit.
[Graphical view]
PROSITEiPS51082. WH2. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P29536-1) [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
MSRVAKYRRQ VSEDPDIDSL LETLSPEEME ELEKELDVVD PDGSVPVGLR
60 70 80 90 100
QRNQTEKQST GVYNREAMLN FCEKETKKLM QREMSMDESK QVETKTDAKN
110 120 130 140 150
GEERGRDASK KALGPRRDSD LGKEPKRGGL KKSFSRDRDE AGGKSGEKPK
160 170 180 190 200
EEKIIRGIDK GRVRAAVDKK EAGKDGRGEE RAVATKKEEE KKGSDRNTGL
210 220 230 240 250
SRDKDKKREE MKEVAKKEDD EKVKGERRNT DTRKEGEKMK RAGGNTDMKK
260 270 280 290 300
EDEKVKRGTG NTDTKKDDEK VKKNEPLHEK EAKDDSKTKT PEKQTPSGPT
310 320 330 340 350
KPSEGPAKVE EEAAPSIFDE PLERVKNNDP EMTEVNVNNS DCITNEILVR
360 370 380 390 400
FTEALEFNTV VKLFALANTR ADDHVAFAIA IMLKANKTIT SLNLDSNHIT
410 420 430 440 450
GKGILAIFRA LLQNNTLTEL RFHNQRHICG GKTEMEIAKL LKENTTLLKL
460 470 480 490 500
GYHFELAGPR MTVTNLLSRN MDKQRQKRLQ EQRQAQEAKG EKKDLLEVPK
510 520 530 540 550
AGAVAKGSPK PSPQPSPKPS PKNSPKKGGA PAAPPPPPPP LAPPLIMENL
560 570 580 590 600
KNSLSPATQR KMGDKVLPAQ EKNSRDQLLA AIRSSNLKQL KKVEVPKLLQ
Length:600
Mass (Da):67,030
Last modified:March 8, 2011 - v3
Checksum:i79103ED8AB8231D4
GO
Isoform 2 (identifier: P29536-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-28: Missing.

Show »
Length:572
Mass (Da):63,783
Checksum:iECF0D0E2C239DDA8
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti102 – 1021E → Q in CAA38101 (PubMed:2026759).Curated
Sequence conflicti118 – 1181D → N in CAA38101 (PubMed:2026759).Curated
Sequence conflicti194 – 1941S → G in CAA38101 (PubMed:2026759).Curated
Sequence conflicti446 – 4461T → S in CAA38101 (PubMed:2026759).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti295 – 2951T → M.
Corresponds to variant rs2820312 [ dbSNP | Ensembl ].
VAR_021839

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 2828Missing in isoform 2. 1 PublicationVSP_035745Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X54162 mRNA. Translation: CAA38101.1.
AL513217, AC099676 Genomic DNA. Translation: CAH72278.2.
BC080187 mRNA. Translation: AAH80187.1.
CCDSiCCDS53457.1. [P29536-1]
PIRiS18732.
RefSeqiNP_036266.2. NM_012134.2. [P29536-1]
UniGeneiHs.519075.

Genome annotation databases

EnsembliENST00000367288; ENSP00000356257; ENSG00000163431. [P29536-1]
GeneIDi25802.
KEGGihsa:25802.
UCSCiuc057oju.1. human. [P29536-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X54162 mRNA. Translation: CAA38101.1.
AL513217, AC099676 Genomic DNA. Translation: CAH72278.2.
BC080187 mRNA. Translation: AAH80187.1.
CCDSiCCDS53457.1. [P29536-1]
PIRiS18732.
RefSeqiNP_036266.2. NM_012134.2. [P29536-1]
UniGeneiHs.519075.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4Z79X-ray1.54A299-486[»]
4Z8GX-ray2.10A364-486[»]
4Z94X-ray2.40G364-486[»]
ProteinModelPortaliP29536.
SMRiP29536. Positions 319-479.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000356257.

PTM databases

iPTMnetiP29536.
PhosphoSiteiP29536.

Polymorphism and mutation databases

BioMutaiLMOD1.
DMDMi325511399.

Proteomic databases

MaxQBiP29536.
PaxDbiP29536.
PRIDEiP29536.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000367288; ENSP00000356257; ENSG00000163431. [P29536-1]
GeneIDi25802.
KEGGihsa:25802.
UCSCiuc057oju.1. human. [P29536-1]

Organism-specific databases

CTDi25802.
GeneCardsiLMOD1.
HGNCiHGNC:6647. LMOD1.
HPAiHPA028325.
HPA028435.
HPA030097.
MIMi602715. gene.
neXtProtiNX_P29536.
PharmGKBiPA30413.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3735. Eukaryota.
ENOG410YAHM. LUCA.
GeneTreeiENSGT00760000119226.
HOGENOMiHOG000261624.
HOVERGENiHBG006280.
InParanoidiP29536.
OMAiRNQTDKQ.
OrthoDBiEOG725DHJ.
PhylomeDBiP29536.
TreeFamiTF315841.

Enzyme and pathway databases

ReactomeiR-HSA-445355. Smooth Muscle Contraction.

Miscellaneous databases

ChiTaRSiLMOD1. human.
GenomeRNAii25802.
PROiP29536.
SOURCEiSearch...

Gene expression databases

BgeeiP29536.
CleanExiHS_LMOD1.
ExpressionAtlasiP29536. baseline and differential.
GenevisibleiP29536. HS.

Family and domain databases

Gene3Di3.80.10.10. 1 hit.
InterProiIPR032675. L_dom-like.
IPR030136. LMOD1.
IPR004934. TMOD.
IPR003124. WH2_dom.
[Graphical view]
PANTHERiPTHR10901. PTHR10901. 2 hits.
PTHR10901:SF5. PTHR10901:SF5. 2 hits.
PfamiPF03250. Tropomodulin. 1 hit.
PF02205. WH2. 1 hit.
[Graphical view]
SMARTiSM00246. WH2. 1 hit.
[Graphical view]
PROSITEiPS51082. WH2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning and sequencing of a novel 64-kDa autoantigen recognized by patients with autoimmune thyroid disease."
    Dong Q., Ludgate M., Vassart G.
    J. Clin. Endocrinol. Metab. 72:1375-1381(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
    Tissue: Thyroid.
  2. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "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 1).
    Tissue: PNS.
  4. "Localization of the human 64kD autoantigen D1 to myofibrils in a subset of extraocular muscle fibers."
    Conley C.A., Fowler V.M.
    Curr. Eye Res. 19:313-322(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY.
  5. "Leiomodin and tropomodulin in smooth muscle."
    Conley C.A.
    Am. J. Physiol. 280:C1645-C1656(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY, SUBCELLULAR LOCATION.
  6. "Leiomodins: larger members of the tropomodulin (Tmod) gene family."
    Conley C.A., Fritz-Six K.L., Almenar-Queralt A., Fowler V.M.
    Genomics 73:127-139(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION.

Entry informationi

Entry nameiLMOD1_HUMAN
AccessioniPrimary (citable) accession number: P29536
Secondary accession number(s): B1APV6, C4AMB1, Q68EN2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 1, 1993
Last sequence update: March 8, 2011
Last modified: June 8, 2016
This is version 133 of the entry and version 3 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. 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.