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LMNA
HPA
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Field
Term
Gene name
Class
Subclass
Class
Keyword
Chromosome
External id
Tissue
Cell type
Expression
Antibody panel
Tissue
Main location
Patient ID
Annotation
Tissue
Category
Tau score
Cluster
Reliability
Brain region
Category
Tau score
Brain region
Category
Tau score
Brain region
Category
Tau score
Cluster
Reliability
Tissue
Cell type
Enrichment
Cell type
Category
Tau score
Cell type
Category
Tau score
Cell type
Category
Tau score
Cell lineage
Category
Tau score
Cluster
Cluster
Location
Searches
Location
Cell line
Class
Type
Phase
Reliability
Cancer
Prognosis
Cancer
Category
Cancer
Category
Tau score
Cluster
Variants
Interacting gene (ensg_id)
Type
Number of interactions
Pathway
Category
Score
Score
Score
Validation
Validation
Validation
Validation
Antibodies
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Column


  • SUMMARY

  • TISSUE

  • BRAIN

  • SINGLE CELL

  • SUBCELL

  • CANCER

  • BLOOD

  • CELL LINE

  • STRUCT & INT

  • LMNA
STRUCTURE & INTERACTION STRUCTURE INTERACTION
Protein structures
Protein interactions
Human metabolism
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

LMNA
Synonyms CMD1A, HGPS, LGMD1B, LMN1, LMNL1, MADA, PRO1
Gene descriptioni

Full gene name according to HGNC.

Lamin A/C
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Cancer-related genes
Disease related genes
Human disease related genes
Plasma proteins
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Intracellular
Protein evidence Evidence at protein level (all genes)

HUMAN PROTEIN ATLAS INFORMATIONi

Summary of RNA expression analysis and annotation data generated within the Human Protein Atlas project.

Single cell type
expression clusteri

The RNA data was used to cluster genes according to their expression across single cell types. Clusters contain genes that have similar expression patterns, and each cluster has been manually annotated to describe common features in terms of function and specificity.

Monocytes - Innate immune response (mainly)
Single cell type specificityi

The RNA specificity category is based on mRNA expression levels in the analyzed cell types based on scRNA-seq data from normal tissues. The categories include: cell type enriched, group enriched, cell type enhanced, low cell type specificity and not detected.

Cell type enhanced (granulocytes, Langerhans cells)
Tissue expression
cluster (RNA)i

The RNA data was used to cluster genes according to their expression across tissues. Clusters contain genes that have similar expression patterns, and each cluster has been manually annotated to describe common features in terms of function and specificity.

Smooth muscle tissue - ECM organization (mainly)
Tissue specificity (RNA)i

The RNA specificity category is based on mRNA expression levels in the consensus dataset which is calculated from the RNA expression levels in samples from HPA and GTEX. The categories include: tissue enriched, group enriched, tissue enhanced, low tissue specificity and not detected.

Low tissue specificity
Subcellular locationi

Main subcellular location based on data generated in the subcellular section of the Human Protein Atlas.

Localized to the Nuclear speckles
Secretome annotationi

All genes with at least one predicted secreted isoform have been annotated and classified with the aim to determine if the corresponding protein(s) are:

  • secreted into blood
  • locally secreted
  • or actually being attached to membrane or retained in intracellular locations like mitochondria, endoplasmatic reticulum (ER), Golgi apparatus or lysosomes.

Not available
GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Chromosome 1
Cytoband q22
Chromosome location (bp) 156082573 - 156140081
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

14
Ensembl ENSG00000160789 (version 109)
Entrez gene 4000
HGNC HGNC:6636
UniProt P02545 (UniProt - Evidence at protein level)
neXtProt NX_P02545
GeneCards LMNA
ASSAYSi

Links to data of the different assays available in the Structure & Interaction resource of the Human Protein Atlas. Click on the miniature images to directly get to the respective section.

Proteinstructure Interaction
PROTEIN BROWSERi

The Structure section provides in-house generated structures, predicted using the Alphafold source code, for the majority of the proteins and their related isoforms.

Displaying protein features on the AlphaFold structures

Individual splice variants can be selected in the top part of the Protein Browser (see below) and different transcript-related features such as transmembrane regions, InterPro domains and antigen sequences for antibodies can be displayed in the structure by clicking on the respective features in the Protein Browser.

Clinical and population-based amino acid variants based on data from the Ensembl variation database and AlphaMissense (AM) predictions can be highlighted using the sliders to the right of the structure. These can also be used to colour the entire structure by residue index or make the structure autorotate.The structures are displayed using the NGL Viewer and can also be zoomed-in and rotated manually.

The Protein Browser

The ProteinBrowser displays the antigen location on the target protein(s) and the features of the target protein. Transcript names and schematic transcript structures including exons, introns and UTRs for the different isoforms are shown on top, and can be used to switch between the structures for the different splice variants.

At the top of the view, the position of the antigen (identified by the corresponding HPA identifier) is shown as a green bar. A yellow triangle on the bar indicates a <100% sequence identity to the protein target.

Below the antigens, the maximum percent sequence identity of the protein to all other proteins from other human genes is displayed, using a sliding window of 10 aa residues (HsID 10) or 50 aa residues (HsID 50). The region with the lowest possible identity is always selected for antigen design, with a maximum identity of 60% allowed for designing a single-target antigen (read more).

The curve in blue displays the predicted antigenicity i.e. the tendency for different regions of the protein to generate an immune response, with peak regions being predicted to be more antigenic.The curve shows average values based on a sliding window approach using an in-house propensity scale. (read more).

Signal peptides (turquoise) and membrane regions (orange) based on predictions using the majority decision methods MDM and MDSEC are also displayed.

Low complexity regions are shown in yellow and InterPro regions in green. Common (purple) and unique (grey) regions between different splice variants of the gene are also displayed (read more), and at the bottom of the protein view is the protein scale.
«
LMNA-201
LMNA-202
LMNA-204
LMNA-205
LMNA-206
LMNA-207
LMNA-212
LMNA-219
LMNA-229
LMNA-232
LMNA-236
LMNA-238
LMNA-239
LMNA-240
»

Description:

Color scheme:
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PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Splice variant SwissProt TrEMBL Protein class Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
LMNA-201
P02545
Show all
Q3BDU5
A0A384MQX1
Show all
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
Disease related genes
Human disease related genes
Mapped to neXtProt
Protein evidence (Ezkurdia et al 2014)
Show all
664 aa
74.1 kDa
No 0
LMNA-202
Q5TCI8
Show all
Predicted intracellular proteins
Cancer-related genes
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
491 aa
55.8 kDa
No 0
LMNA-204
P02545
Show all
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
Disease related genes
Human disease related genes
Mapped to neXtProt
Protein evidence (Ezkurdia et al 2014)
Show all
614 aa
69.2 kDa
No 0
LMNA-205
P02545
Show all
A0A384MQX1
Show all
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
Disease related genes
Human disease related genes
Mapped to neXtProt
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
664 aa
74.1 kDa
No 0
LMNA-206
P02545
Show all
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
Disease related genes
Human disease related genes
Mapped to neXtProt
Protein evidence (Ezkurdia et al 2014)
Show all
572 aa
65.1 kDa
No 0
LMNA-207
P02545
Show all
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
Disease related genes
Human disease related genes
Mapped to neXtProt
Protein evidence (Ezkurdia et al 2014)
Show all
574 aa
63.9 kDa
No 0
LMNA-212
P02545
Show all
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
Disease related genes
Human disease related genes
Mapped to neXtProt
Protein evidence (Ezkurdia et al 2014)
Show all
565 aa
62.9 kDa
No 0
LMNA-219
H0YAB0
Show all
Predicted intracellular proteins
Cancer-related genes
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
43 aa
5.3 kDa
No 0
LMNA-229
A0A6Q8PFJ0
Show all
Predicted intracellular proteins
Cancer-related genes
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
729 aa
80.9 kDa
No 0
LMNA-232
P02545
Show all
A0A384MQX1
Show all
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
Disease related genes
Human disease related genes
Mapped to neXtProt
Protein evidence (Ezkurdia et al 2014)
Show all
664 aa
74.1 kDa
No 0
LMNA-236
P02545
Show all
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
Disease related genes
Human disease related genes
Mapped to neXtProt
Protein evidence (Ezkurdia et al 2014)
Show all
634 aa
70.7 kDa
No 0
LMNA-238
P02545
Show all
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
Disease related genes
Human disease related genes
Mapped to neXtProt
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
572 aa
65.1 kDa
No 0
LMNA-239
P02545
Show all
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
Disease related genes
Human disease related genes
Mapped to neXtProt
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
634 aa
70.7 kDa
No 0
LMNA-240
P02545
Show all
A0A384MQX1
Show all
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
Disease related genes
Human disease related genes
Mapped to neXtProt
Protein evidence (Ezkurdia et al 2014)
Show all
664 aa
74.1 kDa
No 0
Show allShow less
INTERACTIONi

In the Interaction part of this page network plots showing the gene's interaction partners according to four different datasets are displayed, including a consensus network plot showing only interactions present in at least two of the datasets. In the network plots the nodes represent genes and edge color represent the number of datasets the interaction belongs to.

The highlight bar in the top of the plot can be used to color the nodes according to subcellular location (based on data in the Subcellular section), predicted location (based on signalpeptide and transmembrane region predictions), tissue specificity (based on RNA tissue expression profiles) or proteinclass. For genes categorised as single cell type or group specific the option to highlight interaction partners expressed in the same cell type will also be available in the highlight bar.

Custom highlighting of nodes is possible using the top left Filter option in which a query of choice can be built to for example label all nodes that are tissue enriched in both human and mouse brain or those that belongs to a certain tissue expression cluster. The expression cluster for the gene is stated in the box Human Protein Atlas Information above the network plot. Click on Filter in the top left in the plot to find the query builder and some example queries.

Interactions included are direct interaction and physical associations with high and medium confidence from IntAct, physical multivalidated interactions from BioGRID, interactions with>75% probability from BioPlex and significant physical interactions from OpenCell.

Filter menu »
Fields »
e.g. Brain enriched, Localized to mitochondria, Smooth muscle tissue - ECM organization

Field
Term
Gene name
Class
Subclass
Class
Keyword
Chromosome
External id
Tissue
Cell type
Expression
Antibody panel
Tissue
Main location
Patient ID
Annotation
Tissue
Category
Tau score
Cluster
Reliability
Brain region
Category
Tau score
Brain region
Category
Tau score
Brain region
Category
Tau score
Cluster
Reliability
Tissue
Cell type
Enrichment
Cell type
Category
Tau score
Cell type
Category
Tau score
Cell type
Category
Tau score
Cell lineage
Category
Tau score
Cluster
Cluster
Location
Searches
Location
Cell line
Class
Type
Phase
Reliability
Cancer
Prognosis
Cancer
Category
Cancer
Category
Tau score
Cluster
Variants
Interacting gene (ensg_id)
Type
Number of interactions
Pathway
Category
Score
Score
Score
Validation
Validation
Validation
Validation
Antibodies
Data type
Column


Consensus
IntAct
BioGrid
OpenCell
BioPlex
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class



Number of interactions: 17
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
ALOX1222300
BANF15321130
DUSP1319400
EMD167292120
H2AX2229126039
KPNA6161933224
LMNB11515571011
LMNB22221464
NUP155233250
PGK1453051
PPIL322730
SNW148891281925
SUN115100
SUN291410341
TMPO9667181
YWHAZ2201643373248
ZKSCAN123306
Show allShow less
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class



Number of interactions: 54 View all protein interaction data in IntAct
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
ALOX1222300
ASB99151108
ATL1117460
BAHD1354620
DUSP1319400
EMD167292120
FAM161A3118400
FAM3B13102
FAM9A449400
GMCL2022100
H2AX2229126039
IK11211674
IQUB156100
KLF604500
KRTAP10-782391000
LMNB11515571011
LMNB22221464
NEBL028300
NFX1352740
NOD1311700
NUP155233250
ODF3L2010103
PELI12152000
PIAS18386440
RHPN1115300
RNF138118600
RPS4X20131045811
RUFY4110109
RYBP154440023
SLFN1209000
SNW148891281925
SPRED13310300
SPRED2238608
STAM212321891
STUB12657186020
SUN115100
SUN291410341
TMPO9667181
TNIP3226300
YWHAZ2201643373248
ZBTB48023313
ZFP2010000
ZFPM204800
ZKSCAN8014806
ZNF20043000
ZNF34504000
ZNF436119100
ZNF497042000
ZNF564230202
ZNF572058000
ZNF597080011
ZNF64924211
ZSCAN12020000
ZSCAN22227200
Show allShow less
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class



Number of interactions: 235
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
ACTB742717711134
AHCTF157920
AKTIP551800
ALDH3A2001900
ALKBH510360
ALOX1222300
ALYREF4050270
ANLN1056620
ANXA600320
ARHGAP24011100
ATP6AP21511321972
BANF15321130
BAZ1B4533130
BCCIP391432
BRD3018500
BRD43548702
BRIP1551700
C1orf5200200
C1QBP12201071324
C9orf78211521
CACTIN11440
CAMLG6181211
CCDC4715748550
CDC5L40481281829
CDKAL1031310
CFDP120942
CFTR3410423400
CHD322149747
CHD8862580
CHMP4B13163543
CISD24585153
CLCN7112841
CMTR1001209
COMMD12523432726
CTCF5378610550
CTNNB147852691313
CUL3364168420
CWC2700100
CYLD9512150
DDX39B229107440
DDX3X6128800
DEK322240
DHX38861812
DNAJC1192200
DNAJC812328189
DUSP1319400
EEF1D5123200
EGF12300
EGFR18527244106
EMC112129150
EMD167292120
ESS2311915
EZH2151523470
F2RL1587062
FAM169A12400
FBL1510184128
FBXW79715003
FLNA7188060
FUS142814760
GPC1208120
GPKOW8401108
GSK3B272918380
GTF2F2482330
H1-184520135
H1-57640313
H2AC46289410
H2AX2229126039
H3C12552282014
H4C1325635205
HDAC268182258812
HDAC6161916112
HMOX284414025
HNRNPA12210202280
HNRNPA2B1171798260
HNRNPA39260350
HNRNPH14332122851
HNRNPM121681180
HNRNPR19371320
HNRNPU337196460
ISG15367302
ITGB110206020
KBTBD65512030
KIAA114311210
KPNA1321676304
KPNA3153331283
KPNA4182131433
KPNA6161933224
LBR77242122
LEMD201115
LEMD35621319
LMAN1343354
LMNB11515571011
LMNB22221464
LRRC5951487130
LSG1208190
MACROH2A151158120
MAGT181171015
MASTL00300
MATR341411200
MATR380112140
MCM239481041021
MCM3AP114315
MCM55194912
MCM61617421115
MDC1777100
MECOM345820
MECP28349590
MFAP1127925191
MKI674234142
MLIP00100
MMGT1125041160
MORF4L18283950
MTDH7231221
MYC6588126320
NARF00300
NCL38151783824
NDC120680
NFIC9102010
NONO7764131
NOSIP001310
NPM1105272822080
NUP107833294
NUP13311624128
NUP15313349201
NUP155233250
NUP35223056
NUP50693400
NUP988231100
PARP179262721581
PCBP110187521
PCGF2141424012
PCMT1231500
PCNA34371451014
PCYT1A112303
PDAP102230
PDCD111118335
PGK1453051
PGRMC21055182413
PHB12712610
PIAS27163200
PML121415950
POM121278010
POM121C013018
PPIL213810
PPIL322730
PPIL4331113
PPME16215312
PPP1CC222616370
PRKACB152800
PRKDC1113139171
PRKN1111140500
PRPF62619572514
PRR1452715
PSIP1322360
PSMD63831552913
PTPN1132774118
RAI1119150
RB1323614621
RBBP44136142400
RBM63010231
RIF1341890
RNF113A431502
RNF123121700
ROCK21217115
RPA171041711
RPA2111537520
SEC22B1446251525
SEC635040518
SENP1331500
SENP610810
SF3B33411805845
SIRT13448123017
SIRT68453032
SLU7522700
SMPD400210
SMURF29125704
SNRPD12911573011
SNW148891281925
SREBF1023200
SRPRA20172114
SRPRB71192815
SRRM111558120
SRRM213567139
SRSF311224600
STEEP103211
STIM152123413
STX5162728190
SUGP1658162
SUN115100
SUN291410341
SUPT5H37868910
SYCE1340500
SYNE123600
TEAD1121510
TEX2641236215
TFIP1122180391011
TMEM109013302
TMEM199215626
TMEM201004127
TMEM20900400
TMEM21400600
TMEM23010220
TMPO9667181
TOP2A204741340
TOR1AIP1272208
TP5312016068250
TPR112390
TPX2181130
TRIM213249300
TRIM28109233406894
UBE2I314017205
URB200427
USE191711620
USP73537205711
VAMP4113615130
VAPA74411101400
VAPB453473790
VCP5453347435
VRK23812130
WDR7000300
WDR76306232
WRNIP1351500
WWOX366511
XRCC62122226152
YKT65115313
YWHAQ8858310796
YWHAZ2201643373248
ZKSCAN123306
ZKSCAN45151103
ZMAT2244783
ZNF23907100
ZNF280C26480
ZNF281041100
ZNF439219300
ZRANB2251000
Show allShow less
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class



Number of interactions: 32
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
AKR1B102223
ARF52211108
ARHGDIA891960
BANF15321130
BRF1117100
CALR7634137
CFL17143964
CKB351931
COPS210145240
CSNK2A255914823222
ERP29016721
GAPDH92983121
GSTP12221080
HSPD120371251145
KPNA6161933224
LMNB11515571011
LMNB22221464
MAP1B434472
MARCKSL101826
MARF1046100
MDH102850
PGAM2344628
PGK1453051
PPA1001220
PPIL322730
PRDX6072811
PSMA7331967318
RAN3188726611
RRP8448461
STMN1021230
TMSB1003152
TXNDC1704210
Show allShow less
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class



Number of interactions: 3
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
LMNB11515571011
LMNB22221464
ZKSCAN123306
METABOLIC SUMMARYi

In this summary the pathway/subsystems to which the gene belongs is shown together with the associated cellular compartment for the reactions based on metabolite information. The number of proteins and metabolites in the pathway is shown as well as the number of reactions for the selected gene. By clicking on a pathway in the summary table the associated metabolic network map is shown, together with a gene-tissue heatmap that shows the expression of genes in that pathway in different tissues.

LMNA is not a metabolic protein

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