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

    Gene ID: 4000, updated on 8-Jul-2021

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See LMNA in Genome Data Viewer
    Location:
    1q22
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (156082573..156140081)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (156052364..156109872)

    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 Sharpr-MPRA regulatory region 4592 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
    MedGen: C1854154 OMIM: 605588 GeneReviews: Not available
    Compare labs
    Congenital muscular dystrophy, LMNA-related
    MedGen: C2750785 OMIM: 613205 GeneReviews: Not available
    Compare labs
    Dilated cardiomyopathy 1A 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: C5399785 OMIM: 248370 GeneReviews: Not available
    Compare labs
    Primary dilated cardiomyopathy 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
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in DNA double-strand break attachment to nuclear envelope IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to hypoxia IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in establishment or maintenance of microtubule cytoskeleton polarity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of cardiac muscle hypertrophy in response to stress ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of cell population proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of extrinsic apoptotic signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of mesenchymal cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of release of cytochrome c from mitochondria IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in nuclear envelope organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of cell aging IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of histone H3-K9 trimethylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein import into nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein localization to nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of cell migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of protein localization to nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of protein stability IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ventricular cardiac muscle cell development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in lamin filament IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
     
    located_in nuclear envelope IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with nuclear envelope IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in nuclear envelope TAS
    Traceable Author Statement
    more info
     
    located_in nuclear matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nuclear membrane HDA PubMed 
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus HDA PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in site of double-strand break 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)

    NEW Try the new Transcript table

    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
      ENSP00000503633.1, ENST00000677389.1
      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:434541
      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
      ENSP00000506904.1, ENST00000682650.1
      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 109.20210514

    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

      Related
      ENST00000675881.1
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