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

    Gene ID: 4000, updated on 19-Jul-2016
    Official Symbol
    LMNAprovided by HGNC
    Official Full Name
    lamin A/Cprovided by HGNC
    Primary source
    HGNC:HGNC:6636
    See related
    Ensembl:ENSG00000160789 HPRD:01035; MIM:150330; Vega:OTTHUMG00000013961
    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; 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]
    Orthologs
    Location:
    1q22
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 1 NC_000001.11 (156082546..156140089)
    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 semaphorin 4A Neighboring gene solute carrier family 25 member 44

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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
    Benign scapuloperoneal muscular dystrophy with cardiomyopathy Compare labs
    Charcot-Marie-Tooth disease type 2B1 Compare labs
    Congenital muscular dystrophy, LMNA-related Compare labs
    Dilated cardiomyopathy 1A 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
    Limb-girdle muscular dystrophy, type 1B Compare labs
    Malouf syndrome
    MedGen: C0796031 OMIM: 212112 GeneReviews: Not available
    Compare labs
    Mandibuloacral dysostosis
    MedGen: C0432291 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

    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

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    • Breakdown of the nuclear lamina, organism-specific biosystem (from REACTOME)
      Breakdown of the nuclear lamina, organism-specific biosystemActivated caspases cleave nuclear lamins causing the irreversible breakdown of the nuclear lamina.
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      Caspase cascade in apoptosis, organism-specific biosystem
      Caspase cascade in apoptosis
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      Cell Cycle, organism-specific biosystem
      Cell Cycle
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    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein phosphatase 1 binding IEA
    Inferred from Electronic Annotation
    more info
     
    structural molecule activity IEA
    Inferred from Electronic Annotation
    more info
     
    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 disassembly TAS
    Traceable Author Statement
    more info
     
    mitotic nuclear envelope reassembly TAS
    Traceable Author Statement
    more info
     
    negative regulation of adipose tissue development IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of extrinsic apoptotic signaling pathway 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 osteoblast differentiation 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
     
    response to mechanical stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    sterol regulatory element binding protein import into nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    ventricular cardiac muscle cell development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lamin filament IEA
    Inferred from Electronic Annotation
    more info
     
    nuclear envelope IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear envelope TAS
    Traceable Author Statement
    more info
     
    nuclear matrix IEA
    Inferred from Electronic Annotation
    more info
     
    nuclear membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear speck IEA
    Inferred from Electronic Annotation
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    lamin
    Names
    70 kDa lamin
    lamin A/C-like 1
    prelamin-A/C
    renal carcinoma antigen NY-REN-32

    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_001257374.2NP_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, HY027676
      Consensus CDS
      CCDS58038.1
      UniProtKB/Swiss-Prot
      P02545
      Related
      ENSP00000395597, OTTHUMP00000217835, ENST00000448611, OTTHUMT00000359799
      Conserved Domains (3) summary
      pfam00932
      Location:321436
      LTD; Lamin Tail Domain
      pfam08614
      Location:72252
      ATG16; Autophagy protein 16 (ATG16)
      cl21485
      Location:190251
      OmpH; Outer membrane protein (OmpH-like)
    2. NM_001282624.1NP_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, OTTHUMP00000015847, ENST00000368297, OTTHUMT00000039199
      Conserved Domains (3) summary
      pfam00932
      Location:352467
      LTD; Lamin Tail Domain
      pfam08614
      Location:103283
      ATG16; Autophagy protein 16 (ATG16)
      cl21485
      Location:221282
      OmpH; Outer membrane protein (OmpH-like)
    3. NM_001282625.1NP_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, OTTHUMP00000015843, ENST00000368301, OTTHUMT00000039194
      Conserved Domains (3) summary
      pfam00038
      Location:30386
      Filament; Intermediate filament protein
      pfam00932
      Location:433548
      LTD; Lamin Tail Domain
      cl21485
      Location:302363
      OmpH; Outer membrane protein (OmpH-like)
    4. NM_001282626.1NP_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, OTTHUMP00000015845, ENST00000368299, OTTHUMT00000039196
      Conserved Domains (4) summary
      pfam05384
      Location:32148
      DegS; Sensor protein DegS
      pfam00038
      Location:30386
      Filament; Intermediate filament protein
      pfam00932
      Location:433548
      LTD; Lamin Tail Domain
      cl21485
      Location:302363
      OmpH; Outer membrane protein (OmpH-like)
    5. NM_005572.3NP_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)
      AA558657, DA421696, X03445
      Consensus CDS
      CCDS1131.1
      UniProtKB/Swiss-Prot
      P02545
      Related
      ENSP00000355292, ENST00000361308
      Conserved Domains (3) summary
      pfam00038
      Location:30386
      Filament; Intermediate filament protein
      pfam00932
      Location:433548
      LTD; Lamin Tail Domain
      cl21485
      Location:302363
      OmpH; Outer membrane protein (OmpH-like)
    6. NM_170707.3NP_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, OTTHUMP00000015848, ENST00000368300, OTTHUMT00000039200
      Conserved Domains (4) summary
      pfam05384
      Location:32148
      DegS; Sensor protein DegS
      pfam00038
      Location:30386
      Filament; Intermediate filament protein
      pfam00932
      Location:433548
      LTD; Lamin Tail Domain
      cl21485
      Location:302363
      OmpH; Outer membrane protein (OmpH-like)
    7. NM_170708.3NP_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, ENST00000347559
      Conserved Domains (4) summary
      pfam05384
      Location:32148
      DegS; Sensor protein DegS
      pfam00038
      Location:30386
      Filament; Intermediate filament protein
      pfam00932
      Location:433536
      LTD; Lamin Tail Domain
      cl21485
      Location:302363
      OmpH; Outer membrane protein (OmpH-like)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p7 Primary Assembly

      Range
      156082546..156140089
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011509533.1XP_011507835.1  

      Related
      ENSP00000421821, OTTHUMP00000015846, ENST00000473598, OTTHUMT00000039198
      Conserved Domains (3) summary
      pfam00932
      Location:321436
      LTD; Lamin Tail Domain
      pfam08614
      Location:72252
      ATG16; Autophagy protein 16 (ATG16)
      cl21485
      Location:190251
      OmpH; Outer membrane protein (OmpH-like)
    2. XM_011509534.1XP_011507836.1  

      Conserved Domains (3) summary
      pfam00932
      Location:225340
      LTD; Lamin Tail Domain
      pfam15369
      Location:109227
      KIAA1328; Uncharacterized protein KIAA1328
      cl21485
      Location:104155
      OmpH; Outer membrane protein (OmpH-like)

    RNA

    1. XR_921781.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      157448449..157505990
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)