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LMNA lamin A/C [ Homo sapiens (human) ]

Gene ID: 4000, updated on 5-Jul-2020

Summary

Official Symbol
LMNAprovided by HGNC
Official Full Name
lamin A/Cprovided by HGNC
Primary source
HGNC:HGNC:6636
See related
Ensembl:ENSG00000160789 MIM:150330
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FPL; IDC; LFP; CDDC; EMD2; FPLD; HGPS; LDP1; LMN1; LMNC; MADA; PRO1; CDCD1; CMD1A; FPLD2; LMNL1; CMT2B1; LGMD1B
Summary
The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Alternative splicing results in multiple transcript variants. Mutations in this gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. [provided by RefSeq, Apr 2012]
Expression
Ubiquitous expression in gall bladder (RPKM 77.9), skin (RPKM 65.3) and 25 other tissues See more
Orthologs

Genomic context

See LMNA in Genome Data Viewer
Location:
1q22
Exon count:
17
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (156082573..156140081)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (156052369..156109880)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene RAB25, member RAS oncogene family Neighboring gene mex-3 RNA binding family member A Neighboring gene VISTA enhancer hs2129 Neighboring gene semaphorin 4A Neighboring gene solute carrier family 25 member 44

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Professional guidelines

Description
Professional guideline
ACMG 2013

The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in LMNA that are pathogenic or expected to be pathogenic.

GuidelinePubMed

Associated conditions

Description Tests
Charcot-Marie-Tooth disease type 2B1 Compare labs
Congenital muscular dystrophy, LMNA-related Compare labs
Dilated cardiomyopathy 1A
MedGen: C1449563 OMIM: 115200
Compare labs
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
MedGen: C0796031 OMIM: 212112 GeneReviews: Not available
Compare labs
Emery-Dreifuss muscular dystrophy 2, autosomal dominant Compare labs
Emery-Dreifuss muscular dystrophy 3, autosomal recessive
MedGen: C2750035 OMIM: 616516 GeneReviews: Not available
Compare labs
Familial partial lipodystrophy 2
MedGen: C1720860 OMIM: 151660 GeneReviews: Not available
Compare labs
Heart-hand syndrome, Slovenian type
MedGen: C1857829 OMIM: 610140 GeneReviews: Not available
Compare labs
Hutchinson-Gilford syndrome Compare labs
Lethal tight skin contracture syndrome
MedGen: C0406585 OMIM: 275210 GeneReviews: Not available
Compare labs
Mandibuloacral dysplasia with type A lipodystrophy
MedGen: CN031507 OMIM: 248370 GeneReviews: Not available
Compare labs
Primary dilated cardiomyopathy
MedGen: C0007193
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2016-01-18)

ClinGen Genome Curation Page
Haploinsufficency

Some evidence for dosage pathogenicity (Last evaluated (2016-01-18)

ClinGen Genome Curation PagePubMed

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Rev rev putative interaction based on report of Rev binding to nuclear scaffold and lamin C from mouse cells PubMed
Tat tat Purified HIV-1 Tat has been shown to bind with high affinity to the nuclear matrix from H9 cells and to link viral RNAs to the nuclear matrix PubMed
Vpr vpr A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of lamin A/C (LMNA) expression by HIV-1 Vpr in Vpr transduced macrophages PubMed
vpr HIV-1 Vpr colocalizes with lamin A/C and induces localized disruptions in the normal nuclear lamin architecture, contributing to the formation of nuclear envelope herniations PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
IRE1-mediated unfolded protein response TAS
Traceable Author Statement
more info
 
cellular response to hypoxia IEP
Inferred from Expression Pattern
more info
PubMed 
establishment or maintenance of microtubule cytoskeleton polarity ISS
Inferred from Sequence or Structural Similarity
more info
 
mitotic nuclear envelope reassembly TAS
Traceable Author Statement
more info
 
negative regulation of cardiac muscle hypertrophy in response to stress ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of extrinsic apoptotic signaling pathway IEA
Inferred from Electronic Annotation
more info
 
negative regulation of mesenchymal cell proliferation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of release of cytochrome c from mitochondria IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cell aging IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
positive regulation of histone H3-K9 trimethylation IEA
Inferred from Electronic Annotation
more info
 
protein import into nucleus IEA
Inferred from Electronic Annotation
more info
 
protein localization to nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of cell migration ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of protein localization to nucleus IEA
Inferred from Electronic Annotation
more info
 
regulation of protein stability IEA
Inferred from Electronic Annotation
more info
 
ventricular cardiac muscle cell development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
lamin filament IEA
Inferred from Electronic Annotation
more info
 
nuclear body IDA
Inferred from Direct Assay
more info
 
nuclear envelope IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with nuclear envelope IMP
Inferred from Mutant Phenotype
more info
PubMed 
nuclear envelope TAS
Traceable Author Statement
more info
 
nuclear membrane HDA PubMed 
nuclear speck IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus HDA PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
lamin
Names
70 kDa lamin
epididymis secretory sperm binding protein
lamin A/C-like 1
mandibuloacral dysplasia type A
prelamin-A/C
renal carcinoma antigen NY-REN-32

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008692.2 RefSeqGene

    Range
    4974..62517
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_254

mRNA and Protein(s)

  1. NM_001257374.3NP_001244303.1  lamin isoform D

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) represents use of an alternate promoter and uses an alternate 3' exon structure compared to variant 1. The resulting protein (isoform D) has distinct N- and C-termini and is shorter than isoform A.
    Source sequence(s)
    AI872233, AK295390, AL135927, BC018863
    Consensus CDS
    CCDS58038.1
    UniProtKB/Swiss-Prot
    P02545
    Related
    ENSP00000395597.2, ENST00000448611.6
    Conserved Domains (3) summary
    pfam00932
    Location:321429
    LTD; Lamin Tail Domain
    pfam09798
    Location:190351
    LCD1; DNA damage checkpoint protein
    pfam10018
    Location:79243
    Med4; Vitamin-D-receptor interacting Mediator subunit 4
  2. NM_001282624.2NP_001269553.1  lamin isoform E

    See identical proteins and their annotated locations for NP_001269553.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in both UTRs and has multiple differences in the coding region compared to variant 1. This variant encodes isoform E, which is shorter and has distinct N- and C-termini compared to isoform prelamin A.
    Source sequence(s)
    AK097801, BC000511, HY027676
    Consensus CDS
    CCDS72942.1
    UniProtKB/Swiss-Prot
    P02545
    UniProtKB/TrEMBL
    Q5TCI8
    Related
    ENSP00000357280.1, ENST00000368297.5
    Conserved Domains (2) summary
    pfam00038
    Location:48305
    Filament; Intermediate filament protein
    pfam00932
    Location:355460
    LTD; Lamin Tail Domain
  3. NM_001282625.2NP_001269554.1  lamin isoform C

    See identical proteins and their annotated locations for NP_001269554.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in both UTRs and has multiple differences in the coding region compared to variant 1. This results in a shorter isoform (C) with a distinct C-terminus when compared to isoform prelamin A. Both variants 2 and 6 encode the same isoform (C).
    Source sequence(s)
    AK056143, BC000511, DB270595
    Consensus CDS
    CCDS1131.1
    UniProtKB/Swiss-Prot
    P02545
    Related
    ENSP00000357284.2, ENST00000368301.6
    Conserved Domains (2) summary
    pfam00038
    Location:30386
    Filament; Intermediate filament protein
    pfam00932
    Location:436541
    LTD; Lamin Tail Domain
  4. NM_001282626.2NP_001269555.1  lamin isoform A-delta50

    See identical proteins and their annotated locations for NP_001269555.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) uses an alternate 3' exon structure and thus differs in the 3' coding region and 3' UTR, compared to variant 1. This results in a shorter isoform (A-delta50, also known as progerin) with a distinct C-terminus when compared to isoform prelamin A. Although this isoform has been linked to Hutchinson-Gilford progeria syndrome, it is also found in unaffected individuals and thought to be linked to cellular terminal differentiation and physiological aging (see PubMed IDs: 12702809, 16645051, and 18060063).
    Source sequence(s)
    AI872233, AY357727, BU685425, BU732343, DA551594
    Consensus CDS
    CCDS72941.1
    UniProtKB/Swiss-Prot
    P02545
    Related
    ENSP00000357282.3, ENST00000368299.7
    Conserved Domains (3) summary
    pfam00038
    Location:30386
    Filament; Intermediate filament protein
    pfam00932
    Location:433541
    LTD; Lamin Tail Domain
    pfam09798
    Location:302463
    LCD1; DNA damage checkpoint protein
  5. NM_005572.4NP_005563.1  lamin isoform C

    See identical proteins and their annotated locations for NP_005563.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, compared to variant 1. This results in a shorter isoform (C) with a distinct C-terminus when compared to isoform prelamin A. Both variants 2 and 6 encode the same isoform (C).
    Source sequence(s)
    AL135927
    Consensus CDS
    CCDS1131.1
    UniProtKB/Swiss-Prot
    P02545
    Related
    ENSP00000355292.5, ENST00000361308.8
    Conserved Domains (2) summary
    pfam00038
    Location:30386
    Filament; Intermediate filament protein
    pfam00932
    Location:436541
    LTD; Lamin Tail Domain
  6. NM_170707.4NP_733821.1  lamin isoform A

    See identical proteins and their annotated locations for NP_733821.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform A.
    Source sequence(s)
    AI872233, AL135927, BC014507, BG822820
    Consensus CDS
    CCDS1129.1
    UniProtKB/Swiss-Prot
    P02545
    Related
    ENSP00000357283.4, ENST00000368300.9
    Conserved Domains (2) summary
    pfam00038
    Location:30386
    Filament; Intermediate filament protein
    pfam00932
    Location:436541
    LTD; Lamin Tail Domain
  7. NM_170708.4NP_733822.1  lamin isoform A-delta10

    See identical proteins and their annotated locations for NP_733822.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an internal segment of sequence compared to variant 1. The encoded isoform (A delta10), is shorter but has the same C-terminus when compared to isoform A.
    Source sequence(s)
    AF381029, AI872233, AL135927, BC000511, BC014507, BG822820
    UniProtKB/Swiss-Prot
    P02545
    Related
    ENSP00000292304.3, ENST00000347559.6
    Conserved Domains (5) summary
    pfam00038
    Location:30386
    Filament; Intermediate filament protein
    pfam00932
    Location:433536
    LTD; Lamin Tail Domain
    pfam05384
    Location:32119
    DegS; Sensor protein DegS
    pfam09798
    Location:302463
    LCD1; DNA damage checkpoint protein
    pfam10018
    Location:191355
    Med4; Vitamin-D-receptor interacting Mediator subunit 4

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    156082573..156140081
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011509534.2XP_011507836.1  lamin isoform X2

    Conserved Domains (2) summary
    pfam00932
    Location:225333
    LTD; Lamin Tail Domain
    pfam09798
    Location:112255
    LCD1; DNA damage checkpoint protein
  2. XM_011509533.1XP_011507835.1  lamin isoform X1

    Related
    ENSP00000421821.1, ENST00000473598.6
    Conserved Domains (3) summary
    pfam00932
    Location:321429
    LTD; Lamin Tail Domain
    pfam09798
    Location:190351
    LCD1; DNA damage checkpoint protein
    pfam10018
    Location:79243
    Med4; Vitamin-D-receptor interacting Mediator subunit 4

RNA

  1. XR_921781.2 RNA Sequence

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