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SUN1 Gene

protein-coding   GIFtS: 59
GCID: GC07P000857

Sad1 And UNC84 Domain Containing 1

(Previous name: unc-84 homolog A (C. elegans))
(Previous symbol: UNC84A)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Sad1 And UNC84 Domain Containing 11 2     KIAA08103 5
UNC84A1 2 3 5     Unc-84 Homolog A (C. Elegans)1
Sad1 Unc-84 Domain Protein 11 2     SUN Domain-Containing Protein 12
Protein Unc-84 Homolog A2 3     Unc-84 Homolog A2
Sad1/Unc-84 Protein-Like 12 3     

External Ids:    HGNC: 185871   Entrez Gene: 233532   Ensembl: ENSG000001648287   OMIM: 6077235   UniProtKB: O949013   

Export aliases for SUN1 gene to outside databases

Previous GC identifers: GC07P000856 GC07P000773


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SUN1 Gene:
This gene is a member of the unc-84 homolog family and encodes a nuclear nuclear envelope protein with an Unc84
(SUN) domain. The protein is involved in nuclear anchorage and migration. Alternatively spliced transcript
variants have been described. (provided by RefSeq, Jan 2010)

GeneCards Summary for SUN1 Gene:
SUN1 (Sad1 and UNC84 domain containing 1) is a protein-coding gene. Diseases associated with SUN1 include emery-dreifuss muscular dystrophy, and progeria. GO annotations related to this gene include lamin binding. An important paralog of this gene is SPAG4.

UniProtKB/Swiss-Prot: SUN1_HUMAN, O94901
Function: Component of SUN-protein-containing multivariate complexes also called LINC complexes which link the
nucleoskeleton and cytoskeleton by providing versatile outer nuclear membrane attachment sites for cytoskeletal
filaments. Required for interkinetic nuclear migration (INM) and essential for nucleokinesis and
centrosome-nucleus coupling during radial neuronal migration in the cerebral cortex and during glial migration.
Anchors chromosome movement in the prophase of meiosis and is involved in selective gene expression of coding and
non-coding RNAs needed for gametogenesis. Required for telomere attachment to nuclear envelope and gametogenesis.
Helps to define the distribution of nuclear pore complexes (NPCs) (By similarity). Required for efficient
localization of SYNE4 in the nuclear envelope (By similarity)

Gene Wiki entry for SUN1 (UNC84A) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000007.14  NC_018918.2  NT_007819.18  
Regulatory elements:
   Search for regulatory transcription factor binding sites for SUN1
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 5): SUN1 promoter sequence
   Search Chromatin IP Primers for SUN1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SUN1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7p22.3   Ensembl cytogenetic band:  7p22.3   HGNC cytogenetic band: 7p22.3

SUN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SUN1 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P000857:  view genomic region     (about GC identifiers)

Start:
855,194 bp from pter      End:
936,072 bp from pter
Size:
80,879 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 909,796-969,506     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: SUN1_HUMAN, O94901 (See protein sequence)
Recommended Name: SUN domain-containing protein 1  
Size: 812 amino acids; 90064 Da
Subunit: Dimers and tetramers (By similarity). Core component of the LINC complex which is composed of inner
nuclear membrane SUN domain-containing proteins coupled to outer nuclear membrane KASH domain-containing
nesprins. SUN domain-containing proteins interact with A-type lamins of the nuclear lamina, while at the other
end of the complex, nesprins interact with unique cytoskeletal components. May interact with SYNE1, SYNE2 and
SYNE3. May interact with SYNE4 (By similarity). Interacts with A-type lamin with a strong preference for
unprocessed A-type lamin compared with the mature protein. Interaction with lamins B1 and C is hardly detectable.
Interacts with TSNAX (By similarity). Interacts with EMD and NAT10. Associates with the nuclear pore complex
(NPC) (By similarity). Interacts with CCDC155 (via the last 22 AA); this interaction mediates CCDC155 telomere
localization. Interacts with CCDC79/TERB1; promoting the accumulation of the LINC complex complexes at the
telomere-nuclear envelope attachment sites (By similarity)
Sequence caution: Sequence=BAA34530.1; Type=Erroneous initiation;
Secondary accessions: A5PL20 B3KMV7 B4DZF7 B7WNY4 B7WP53 E9PDU4 E9PF23 F8WD13 Q96CZ7 Q9HA14
Q9UH98
Alternative splicing: 9 isoforms:  O94901-1   O94901-2   O94901-3   O94901-4   O94901-5   O94901-6   O94901-7   O94901-8   
O94901-9   (No experimental confirmation available. Contains a phosphoserine at position 333)

Explore the universe of human proteins at neXtProt for SUN1: NX_O94901

Explore proteomics data for SUN1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys195, Lys367, Lys419, Lys523, Lys699
  • Glycosylation2 at Asn588
  • Modification sites at PhosphoSitePlus

  • See SUN1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001124437.1  NP_001165415.1  NP_001165416.1  NP_001165417.1  NP_079430.3  

    ENSEMBL proteins: 
     ENSP00000374225   ENSP00000388430   ENSP00000399549   ENSP00000413188   ENSP00000394597  
     ENSP00000404965   ENSP00000394381   ENSP00000384116   ENSP00000384015   ENSP00000383947  
     ENSP00000392595   ENSP00000414279   ENSP00000409909   ENSP00000406653   ENSP00000406444  
     ENSP00000388743   ENSP00000395952   ENSP00000413439   ENSP00000392309   ENSP00000389313  
    Reactome Protein details: O94901

    SUN1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for SUN1
    OriGene Custom MassSpec
    OriGene Custom Protein Services for SUN1
    GenScript Custom Purified and Recombinant Proteins Services for SUN1
    Novus Biologicals SUN1 Proteins
    Novus Biologicals SUN1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SUN1

    SUN1 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for SUN1
    OriGene Custom Antibody Services for SUN1
    Novus Biologicals SUN1 Antibodies
    Search for Antibodies for SUN1 at Abcam
    Cloud-Clone Corp. Antibodies for SUN1
    ThermoFisher Antibodies for SUN1
    LSBio Antibodies in human, mouse, rat for SUN1

    SUN1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for SUN1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for SUN1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for SUN1
    Cloud-Clone Corp. CLIAs for SUN1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR012919 Sad1_UNC_C
     IPR018539 SUN1

    Graphical View of Domain Structure for InterPro Entry O94901

    ProtoNet protein and cluster: O94901

    1 Blocks protein domain: IPB012919 Sad1/UNC-like

    UniProtKB/Swiss-Prot: SUN1_HUMAN, O94901
    Domain: The SUN domain may play a role in the nuclear anchoring and/or migration
    Similarity: Contains 1 SUN domain


    SUN1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SUN1_HUMAN, O94901
    Function: Component of SUN-protein-containing multivariate complexes also called LINC complexes which link the
    nucleoskeleton and cytoskeleton by providing versatile outer nuclear membrane attachment sites for cytoskeletal
    filaments. Required for interkinetic nuclear migration (INM) and essential for nucleokinesis and
    centrosome-nucleus coupling during radial neuronal migration in the cerebral cortex and during glial migration.
    Anchors chromosome movement in the prophase of meiosis and is involved in selective gene expression of coding and
    non-coding RNAs needed for gametogenesis. Required for telomere attachment to nuclear envelope and gametogenesis.
    Helps to define the distribution of nuclear pore complexes (NPCs) (By similarity). Required for efficient
    localization of SYNE4 in the nuclear envelope (By similarity)

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI18396275
    GO:0005521lamin binding IEA--
         
    SUN1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SUN1:
     Increased gamma-H2AX phosphory 

         10 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Sun1):
     behavior/neurological  endocrine/exocrine gland  growth/size/body  hearing/vestibular/ear  homeostasis/metabolism 
     mortality/aging  muscle  nervous system  no phenotypic analysis  reproductive system 

    SUN1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for SUN1: Sun1tm1Mhan Sun1tm1.1Ktj

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SUN1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SUN1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SUN1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SUN1

    miRNA
    Products:
        
    miRTarBase miRNAs that target SUN1:
    hsa-mir-26b-5p (MIRT029149), hsa-mir-18a-3p (MIRT040822), hsa-mir-193b-3p (MIRT041459)

    Block miRNA regulation of human, mouse, rat SUN1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SUN1 (see all 39):
    hsa-miR-142-5p hsa-miR-300 hsa-miR-4272 hsa-miR-25 hsa-miR-29a hsa-miR-1304 hsa-miR-92b hsa-miR-92a
    SwitchGear 3'UTR luciferase reporter plasmidSUN1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SUN1
    Predesigned siRNA for gene silencing in human, mouse, rat SUN1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SUN1

    Clone
    Products:
         
    OriGene clones in human, mouse for SUN1 (see all 25)
    OriGene ORF clones in mouse, rat for SUN1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 5): SUN1 (NM_001130965)
    Sino Biological Human cDNA Clone for SUN1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SUN1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SUN1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for SUN1
    Browse ESI BIO Cell Lines and PureStem Progenitors for SUN1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SUN1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SUN1_HUMAN, O94901: Nucleus inner membrane; Single-pass type II membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytoskeleton2
    cytosol2
    extracellular1
    mitochondrion1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002080acrosomal membrane IEA--
    GO:0005634nucleus ----
    GO:0005635nuclear envelope IDA19933576
    GO:0005639integral component of nuclear inner membrane IEA--
    GO:0005737cytoplasm ----

    SUN1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for SUN1 About    
    See pathways by source

    SuperPathContained pathways About
    1Packaging Of Telomere Ends
    Meiotic Synapsis0.66
    Chromosome Maintenance0.62
    2Cell Cycle, Mitotic
    Cell Cycle0.90
    3Meiosis (REACTOME)
    Meiosis0.74

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for SUN1
        Meiotic synapsis



    SUN1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including SUN1: 
              Telomeres & Telomerase in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for SUN1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for SUN1 (O949011, 3 ENSP000003840154) via UniProtKB, MINT, STRING, and/or I2D (see all 46)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TSNAXQ995983, ENSP000003555994I2D: score=5 STRING: ENSP00000355599
    TOLLIPQ9H0E23I2D: score=2 
    LMNAP025453I2D: score=1 
    SYNE1Q8NF91-11, ENSP000002653684EBI-2796904,EBI-6170938 STRING: ENSP00000265368
    LMNB1ENSP000002613664STRING: ENSP00000261366
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006998nuclear envelope organization IGI16380439
    GO:0090286cytoskeletal anchoring at nuclear membrane IDA18396275
    GO:0090292nuclear matrix anchoring at nuclear membrane IDA18396275

    SUN1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SUN1



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SUN1 gene (5 alternative transcripts): 
    NM_001130965.2  NM_001171944.1  NM_001171945.1  NM_001171946.1  NM_025154.5  

    Unigene Cluster for SUN1:

    Sad1 and UNC84 domain containing 1
    Hs.438072  [show with all ESTs]
    Unigene Representative Sequence: BC142707
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 37):
    ENST00000427969 ENST00000450538 ENST00000389574 ENST00000435699 ENST00000440380
    ENST00000439679 ENST00000424128 ENST00000457598 ENST00000421580 ENST00000340926(uc003sje.1)
    ENST00000405266 ENST00000413171 ENST00000401592 ENST00000403868 ENST00000467483
    ENST00000483996 ENST00000469755 ENST00000450881
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat SUN1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SUN1 (see all 39):
    hsa-miR-142-5p hsa-miR-300 hsa-miR-4272 hsa-miR-25 hsa-miR-29a hsa-miR-1304 hsa-miR-92b hsa-miR-92a
    SwitchGear 3'UTR luciferase reporter plasmidSUN1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for SUN1
    Predesigned siRNA for gene silencing in human, mouse, rat SUN1
    Clone
    Products:
         
    OriGene clones in human, mouse for SUN1 (see all 25)
    OriGene ORF clones in mouse, rat for SUN1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 5): SUN1 (NM_001130965)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SUN1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SUN1
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for SUN1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SUN1
      QuantiTect SYBR Green Assays in human, mouse, rat SUN1
      QuantiFast Probe-based Assays in human, mouse, rat SUN1

    Additional mRNA sequence: 

    AF202724.1 AK022816.1 AK025737.1 AK074320.1 AK302896.1 AK304150.1 AK309120.1 AY776160.1 
    BC013613.1 BC113916.1 BC142707.1 BX649069.1 

    Selected DOTS entries (see all 39):

    DT.87016779  DT.101957440  DT.100794357  DT.121644616  DT.100840732  DT.100666045  DT.40229280  DT.121052456 
    DT.100671866  DT.100794360  DT.408830  DT.121052442  DT.97816093  DT.121052437  DT.209433  DT.91935779 
    DT.100794355  DT.100794359  DT.121052514  DT.455873  DT.100794352  DT.100794354  DT.121052406  DT.121052512 

    Selected AceView cDNA sequences (see all 367):

    AI672418 BI256847 BQ890097 BM689998 BM788609 AI369907 AI582998 BM990902 
    AL118570 AA983275 CK724862 BQ083243 AI678506 BE674349 BF512830 BC013613 
    BI056943 BM784872 AA649198 AA437111 AA502426 BQ071262 AB018353 AA358792 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SUN1 (see all 29)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b · 13c · 13d ^ 14a ·
    SP1:                                                                                                                    -           -     -     -     -     -   
    SP2:                                      -                       -     -     -                             -     -     -     -     -     -     -     -     -   
    SP3:                                                                                                                                -     -           -     -   
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 14b ^ 15a · 15b ^ 16a · 16b · 16c · 16d · 16e · 16f ^ 17a · 17b · 17c ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23a · 23b ^ 24 ^ 25 ^ 26a · 26b ^ 27a · 27b ^ 28a ·
    SP1:                    -     -                       -                                   -                                         -           -               
    SP2:  -                 -     -                       -                                   -                                         -           -               
    SP3:                    -     -                       -                                   -                                         -           -               
    SP4:                                                                                      -                                         -           -               
    SP5:                                                  -                                   -                                                                     


    ECgene alternative splicing isoforms for SUN1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    SUN1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGGAATATG
    SUN1 Expression
    About this image


    SUN1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 16) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
    SUN1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SUN1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.438072
        Pathway & Disease-focused RT2 Profiler PCR Array including SUN1: 
              Telomeres & Telomerase in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for SUN1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sun11 , 5 Sad1 and UNC84 domain containing 11, 5 73.99(n)1
    70.8(a)1
      5 (78.12 cM)5
    770531  NM_024451.21  NP_077771.11 
     1392006375 
    chicken
    (Gallus gallus)
    Aves SUN11 Sad1 and UNC84 domain containing 1 64.68(n)
    57.34(a)
      416449  XM_414757.4  XP_414757.3 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    71(a)
    46(a)
    1 ↔ many
    1 ↔ many
    AAWZ02040058(3418-7433)
    GL343385.1(661097-679295)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.244662 Xenopus laevis transcribed sequences 79.31(n)    BJ100155.1 
    zebrafish
    (Danio rerio)
    Actinopterygii sun11 Sad1 and UNC84 domain containing 1 54.09(n)
    46.08(a)
      553188  NM_001018135.1  NP_001018145.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta koi6
    klaroid
    28(a)
    1 → many
    2R(2702565-2705704)
    worm
    (Caenorhabditis elegans)
    Secernentea unc-846
    Protein UNC-84, isoform a
    16(a)
    1 → many
    X(13584775-13589827) WBGene00006816


    ENSEMBL Gene Tree for SUN1 (if available)
    TreeFam Gene Tree for SUN1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SUN1 gene
    SPAG42  SUN22  SUN32  SUN52  
    6 SIMAP similar genes for SUN1 using alignment to 13 protein entries:     SUN1_HUMAN (see all proteins):
    UNC84A    SUN3    UNC84B    SPAG4    SUN2    SUN5

    SUN1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SUN1 (see all 1776)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1506444611,2
    C--853229(+) GCGTCC/TGGTCT 1 -- us2k10--------
    rs1868970231,2
    --853613(+) CTCTAC/GTGACA 1 -- us2k10--------
    rs1133428521,2
    C--853643(+) GGCACG/AGCCAT 1 -- us2k11Minor allele frequency- A:0.50NA 2
    rs1851113471,2
    --853651(+) CATCTA/GCCAAA 1 -- us2k10--------
    rs1397472641,2
    C--853655(+) TGCCAA/CAATCT 1 -- us2k10--------
    rs1498322271,2
    --853838(+) ACCAGC/TCTGGG 1 -- us2k10--------
    rs69611851,2
    C--853893(+) aggccG/Aaggcg 1 -- us2k11Minor allele frequency- A:0.50WA 2
    rs78082351,2
    C--853922(+) gagatC/G/Tgagac 1 -- us2k10--------
    rs1121364111,2
    C,F--853923(+) AGATCG/AAGACC 1 -- us2k11Minor allele frequency- A:0.50NA 2
    rs1825807651,2
    --853943(+) AACACA/GGTGAA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for SUN1 (855194 - 936072 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SUN1 (see all 24):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2208128CNV Deletion18987734
    esv1417298CNV Deletion17803354
    esv2733670CNV Deletion23290073
    esv5081CNV Deletion18987735
    esv994061CNV Deletion20482838
    esv997325CNV Deletion20482838
    esv2733669CNV Deletion23290073
    esv2485286CNV Deletion19546169
    esv2733668CNV Deletion23290073
    esv2661195CNV Deletion23128226

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 607723    OMIM disorders: --

    10 diseases for SUN1:    
    About MalaCards
    emery-dreifuss muscular dystrophy    progeria    muscular dystrophy    cerebritis
    hypertension    tonsillitis    thyroiditis    neuronitis
    endotheliitis    prostatitis

    2 diseases from the University of Copenhagen DISEASES database for SUN1:
    Emery-Dreifuss muscular dystrophy     Progeria

    SUN1 for disorders           About GeneDecksing

    Human Genome Epidemiology (HuGE) Navigator: SUN1 (4 documents)

    Export disorders for SUN1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SUN1 gene, integrated from 10 sources (see all 43):
    (articles sorted by number of sources associating them with SUN1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mammalian SUN protein interaction networks at the inner nuclear membrane and their role in laminopathy disease processes. (PubMed id 19933576)1, 2 Haque F.... Shackleton S. (J. Biol. Chem. 2010)
    2. Structural requirements for the assembly of LINC complexes and their function in cellular mechanical stiffness. (PubMed id 18396275)1, 2 Stewart-Hutchinson P.J.... Hodzic D. (Exp. Cell Res. 2008)
    3. Histone acetyltransferase hALP and nuclear membrane protein hsSUN1 function in de-condensation of mitotic chromosomes. (PubMed id 17631499)1, 2 Chi Y.-H.... Jeang K.-T. (J. Biol. Chem. 2007)
    4. Characterization of the structures involved in localization of the SUN proteins to the nuclear envelope and the centrosome. (PubMed id 17132086)1, 2 Wang Q.... Greene M.I. (DNA Cell Biol. 2006)
    5. Nuclear envelope localization of human UNC84A does not require nuclear lamins. (PubMed id 16445915)1, 2 Hasan S....Kutay U. (FEBS Lett. 2006)
    6. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. Nuclear membrane proteins with potential disease links found by subtractive proteomics. (PubMed id 12958361)1, 2 Schirmer E.C.... Gerace L. (Science 2003)
    10. Nuclear envelope proteomics: novel integral membrane proteins of the inner nuclear membrane. (PubMed id 11593002)1, 3 Dreger M....Hucho F. (Proc. Natl. Acad. Sci. U.S.A. 2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 23353 HGNC: 18587 AceView: UNC84A Ensembl:ENSG00000164828 euGenes: HUgn23353
    ECgene: SUN1 H-InvDB: SUN1

    (According to HUGE)
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    HUGE: KIAA0810

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SUN1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SUN1 gene:
    Search GeneIP for patents involving SUN1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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