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LEMD3 LEM domain containing 3 [ Homo sapiens (human) ]

Gene ID: 23592, updated on 22-Nov-2014
Official Symbol
LEMD3provided by HGNC
Official Full Name
LEM domain containing 3provided by HGNC
Primary source
HGNC:HGNC:28887
See related
Ensembl:ENSG00000174106; HPRD:09704; MIM:607844; Vega:OTTHUMG00000168840
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
MAN1
Summary
This locus encodes a LEM domain-containing protein. The encoded protein functions to antagonize transforming growth factor-beta signaling at the inner nuclear membrane. Two transcript variants encoding different isoforms have been found for this gene. Mutations in this gene have been associated with osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.[provided by RefSeq, Nov 2009]
See LEMD3 in Epigenomics, MapViewer
Location:
12q14
Exon count:
13
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 12 NC_000012.12 (65169571..65248361)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (65563351..65642141)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene WNT inhibitory factor 1 Neighboring gene apolipoprotein O pseudogene 3 Neighboring gene methionine sulfoxide reductase B3 Neighboring gene keratin 18 pseudogene 60 Neighboring gene uncharacterized LOC100507065

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Dermatofibrosis lenticularis disseminata
MedGen: C0265514 OMIM: 166700 GeneReviews: Not available
Compare labs
Melorheostosis
MedGen: C0025239 OMIM: 155950 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-03-22)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-03-22)

ClinGen Genome Curation PagePubMed
  • Cell Cycle, organism-specific biosystem (from REACTOME)
    Cell Cycle, organism-specific biosystem
    Cell Cycle
  • Cell Cycle, Mitotic, organism-specific biosystem (from REACTOME)
    Cell Cycle, Mitotic, organism-specific biosystemThe replication of the genome and the subsequent segregation of chromosomes into daughter cells are controlled by a series of events collectively known as the cell cycle. DNA replication is carried o...
  • Clearance of Nuclear Envelope Membranes from Chromatin, organism-specific biosystem (from REACTOME)
    Clearance of Nuclear Envelope Membranes from Chromatin, organism-specific biosystemIn mitotic prophase, chromatin detaches from the nuclear envelope, and this contributes to the nuclear envelope breakdown. VRK1 (and possibly VRK2) mediated phosphorylation of BANF1 (BAF), a protein ...
  • Depolymerisation of the Nuclear Lamina, organism-specific biosystem (from REACTOME)
    Depolymerisation of the Nuclear Lamina, organism-specific biosystemThe nuclear envelope breakdown in mitotic prophase involves depolymerisation of lamin filaments, the main constituents of the nuclear lamina. The nuclear lamina is located at the nuclear face of the ...
  • Initiation of Nuclear Envelope Reformation, organism-specific biosystem (from REACTOME)
    Initiation of Nuclear Envelope Reformation, organism-specific biosystemReassembly of the nuclear envelope is initiated at late anaphase/early telophase when BANF1 (BAF) accumulates on the decondensing chromosome mass close to the spindle ('core' region), together with E...
  • M Phase, organism-specific biosystem (from REACTOME)
    M Phase, organism-specific biosystemMitosis, or the M phase, involves nuclear division and cytokinesis, where two identical daughter cells are produced. Mitosis involves prophase, prometaphase, metaphase, anaphase, and telophase. Fin...
  • Mitotic Anaphase, organism-specific biosystem (from REACTOME)
    Mitotic Anaphase, organism-specific biosystemIn anaphase, the paired chromosomes separate at the centromeres, and move to the opposite sides of the cell. The movement of the chromosomes is facilitated by a combination of kinetochore movement al...
  • Mitotic Metaphase and Anaphase, organism-specific biosystem (from REACTOME)
    Mitotic Metaphase and Anaphase, organism-specific biosystemMetaphase is marked by the formation of the metaphase plate. The metaphase plate is formed when the spindle fibers align the chromosomes along the middle of the cell. Such an organization helps to ...
  • Mitotic Prophase, organism-specific biosystem (from REACTOME)
    Mitotic Prophase, organism-specific biosystemDuring prophase, the chromatin in the nucleus condenses, and the nucleolus disappears. Centrioles begin moving to the opposite poles or sides of the cell. Some of the fibers that extend from the cen...
  • Nuclear Envelope Breakdown, organism-specific biosystem (from REACTOME)
    Nuclear Envelope Breakdown, organism-specific biosystemThe nuclear envelope breakdown (NEBD) happens in late prophase of mitosis and involves disassembly of the nuclear pore complex, depolymerization of the nuclear lamina, and clearance of nuclear envelo...
  • Nuclear Envelope Reassembly, organism-specific biosystem (from REACTOME)
    Nuclear Envelope Reassembly, organism-specific biosystemThe reassembly of the nuclear envelope (NE) around separated sister chromatids begins in late anaphase and is completed in telophase. Nuclear pore complexes (NPCs) reassemble and insert into the refo...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
nucleotide binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of nuclear inner membrane IEA
Inferred from Electronic Annotation
more info
 
membrane TAS
Traceable Author Statement
more info
PubMed 
nuclear inner membrane IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
inner nuclear membrane protein Man1
Names
inner nuclear membrane protein Man1
LEM domain-containing protein 3
integral inner nuclear membrane protein

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_016210.1 

    Range
    5001..83791
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001167614.1NP_001161086.1  inner nuclear membrane protein Man1 isoform 2

    See proteins identical to NP_001161086.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    AF112299, AK312473, BX390128
    UniProtKB/Swiss-Prot
    Q9Y2U8
    Conserved Domains (3) summary
    cd12942
    Location:951
    LEM_Man1; LEM (Lap2/Emerin/Man1) domain found in inner nuclear membrane protein Man1
    cd12286
    Location:784875
    RRM_Man1; RNA recognition motif in inner nuclear membrane protein Man1 (Man1) and similar proteins
    pfam09402
    Location:518750
    MSC; Man1-Src1p-C-terminal domain
  2. NM_014319.4NP_055134.2  inner nuclear membrane protein Man1 isoform 1

    See proteins identical to NP_055134.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AF112299, AK312473, BX390128
    Consensus CDS
    CCDS8972.1
    UniProtKB/TrEMBL
    A0A024RBB9
    UniProtKB/Swiss-Prot
    Q9Y2U8
    Related
    ENSP00000308369, OTTHUMP00000239603, ENST00000308330, OTTHUMT00000401312
    Conserved Domains (3) summary
    cd12942
    Location:951
    LEM_Man1; LEM (Lap2/Emerin/Man1) domain found in inner nuclear membrane protein Man1
    cd12286
    Location:785876
    RRM_Man1; RNA recognition motif in inner nuclear membrane protein Man1 (Man1) and similar proteins
    pfam09402
    Location:476751
    MSC; Man1-Src1p-C-terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Alternate HuRef

Genomic

  1. AC_000144.1 

    Range
    62615007..62693876
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000012.12 

    Range
    65169571..65248361
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018923.2 

    Range
    65530362..65609142
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)