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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SMCHD1 Gene

protein-coding   GIFtS: 50
GCID: GC18P002649

structural maintenance of chromosomes flexible hinge domain...
 Explore 1 disease affiliated with
SMCHD1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SMCHD1    

Aliases
for SMCHD1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Structural Maintenance Of Chromosomes Flexible Hinge Domain Containing 11 2
KIAA06501 3
Structural Maintenance Of Chromosomes Flexible Hinge Domain-Containing Protein
12
SMC Hinge Domain-Containing Protein 13

External Ids:    HGNC: 290901   Entrez Gene: 233472   Ensembl: ENSG000001015967   OMIM: 6149825   UniProtKB: A6NHR93   

Export aliases for SMCHD1 gene to outside databases


Summaries
for SMCHD1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for SMCHD1:
This gene encodes a protein which contains a hinge region domain found in members of the SMC (structural maintenance of
chromosomes) protein family. (provided by RefSeq, Dec 2011)

UniProtKB/Swiss-Prot: SMHD1_HUMAN, A6NHR9
Function: Required for maintenance of X inactivation in females and hypermethylation of CpG islands associated with
inactive X. Involved in a pathway that mediates the methylation of a subset of CpG islands slowly and requires the de
novo methyltransferase DNMT3B (By similarity). Required for DUX4 silencing in somatic cells




Genomic Views
for SMCHD1 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000018.9  NC_018929.1  NT_010859.14  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SMCHD1 gene promoter:
         STAT1   C/EBPbeta   ISGF-3   AML1a   Pbx1a   RREB-1   STAT1beta   STAT1alpha   SRY   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for SMCHD1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SMCHD1


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

Entrez Gene cytogenetic band: 18p11.32   Ensembl cytogenetic band:  18p11.32   HGNC cytogenetic band: 18p11.32

SMCHD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SMCHD1 gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18P002649:  view genomic region     (about GC identifiers)

Start:
 2,655,737 bp from pter      End:
 2,805,015 bp from pter
Size:
 149,279 bases      Orientation:
 plus strand

Proteins
for SMCHD1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: SMHD1_HUMAN, A6NHR9 (See protein sequence)
Recommended Name: Structural maintenance of chromosomes flexible hinge domain-containing protein 1  
Size: 2005 amino acids; 226374 Da
Subcellular location: Chromosome (By similarity). Note=Localizes to Barr body (By similarity)
Sequence caution: Sequence=BAB15202.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BC035774; Type=Frameshift; Positions=1730; Sequence=CAH10538.1; Type=Erroneous initiation; Note=Translation
N-terminally extended;
Secondary accessions: O75141 Q6AHX6 Q6ZTQ8 Q9H6Q2 Q9UG39
Alternative splicing: 3 isoforms:  A6NHR9-1   A6NHR9-2   A6NHR9-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SMCHD1: NX_A6NHR9

Post-translational modifications:

  • Sumoylated with SUMO1 (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_A6NHR9

    • SMCHD1 Protein expression data from MOPED and PaxDb:    About this image 
    SMCHD1 Protein Expression
    REFSEQ proteins: NP_056110.2  
    ENSEMBL proteins: 
     ENSP00000326603   ENSP00000462050   ENSP00000463049   ENSP00000464684   ENSP00000463036  
     ENSP00000261598  

    Human Recombinant Protein Products for SMCHD1: 
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    Novus Biologicals SMCHD1 Protein
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for SMCHD1

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001740Barr body IEA--

    SMCHD1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for SMCHD1

    Protein Domains /
    Families
    for SMCHD1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SMCHD1 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR003594 ATPase-like_ATP-bd
     IPR010935 SMC_hinge

    Graphical View of Domain Structure for InterPro Entry A6NHR9

    ProtoNet protein and cluster: A6NHR9


    Function
    for SMCHD1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SMHD1_HUMAN, A6NHR9
    Function: Required for maintenance of X inactivation in females and hypermethylation of CpG islands associated with
    inactive X. Involved in a pathway that mediates the methylation of a subset of CpG islands slowly and requires the de
    novo methyltransferase DNMT3B (By similarity). Required for DUX4 silencing in somatic cells

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005524ATP binding IEA--
         
    SMCHD1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SMCHD1:
     Increased homologous recombina 

         7 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Smchd1):
     cellular  embryogenesis  homeostasis/metabolism  integument  mortality/aging 
     pigmentation  reproductive system 

    SMCHD1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for SMCHD1 

    miRNA
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    hsa-mir-210 (MIRT003173)

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    8/56 QIAGEN miScript miRNA Assays for microRNAs that regulate SMCHD1 (see all 56):
    hsa-miR-142-5p hsa-miR-548j hsa-miR-513a-5p hsa-miR-628-3p hsa-miR-507 hsa-miR-218 hsa-miR-298 hsa-miR-548a-5p
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    Inhib. RNA
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    OriGene shRNA RFP: SMCHD1
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    Gene Editing
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    Clone
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    Cell Line
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    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMCHD1


    Pathways & Interactions
    for SMCHD1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SMCHD1

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    5/740 Interacting proteins for SMCHD1 (A6NHR92, 3 ENSP000003266034) via UniProtKB, MINT, STRING, and/or I2D (see all 740)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBA5Q9GZZ92, 3MINT-7945693 MINT-7947479 I2D: score=1 
    SUMO1P631652, 3MINT-7947479 I2D: score=1 
    CDC5LQ994592, ENSP000003605324MINT-7945693 MINT-7947479 STRING: ENSP00000360532
    SNW1Q135732, ENSP000002615314MINT-7945693 MINT-7947479 STRING: ENSP00000261531
    ABCF1Q8NE712MINT-7945693 MINT-7947479
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0009048dosage compensation by inactivation of X chromosome ----
    GO:0051276chromosome organization IEA--
    GO:0060821inactivation of X chromosome by DNA methylation IEA--

    SMCHD1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for SMCHD1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SMCHD1
    Search CenterWatch for drugs/clinical trials and news about SMCHD1 / SMHD1 

    Transcripts
    for SMCHD1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for SMCHD1 gene: 
    NM_015295.2  

    Unigene Cluster for SMCHD1:

    Structural maintenance of chromosomes flexible hinge domain containing 1
    Hs.8118  [show with all ESTs]
    Unigene Representative Sequence: NM_015295
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000320876(uc002klm.4 uc002klk.4 uc002kll.4) ENST00000581226
    ENST00000585229 ENST00000577880 ENST00000577300 ENST00000584897 ENST00000581711
    ENST00000581383 ENST00000581631 ENST00000583441 ENST00000583344 ENST00000583800
    ENST00000261598

    miRNA
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    8/56 QIAGEN miScript miRNA Assays for microRNAs that regulate SMCHD1 (see all 56):
    hsa-miR-142-5p hsa-miR-548j hsa-miR-513a-5p hsa-miR-628-3p hsa-miR-507 hsa-miR-218 hsa-miR-298 hsa-miR-548a-5p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SMCHD1 (see all 4)
    OriGene shRNA RFP: SMCHD1
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SMCHD1
    Sirion Biotech Custom design and validation of potent shRNA sequences against SMCHD1 
    Clone
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SMCHD1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SMCHD1

    Additional cDNA sequence: 

    AB014550.1 AK025646.1 AK126324.1 AL080138.1 BC006008.1 BC035774.1 

    14 DOTS entries:

    DT.87016342  DT.100000267  DT.121089749  DT.65286917  DT.210931  DT.121089773  DT.99970379  DT.40236349 
    DT.92047044  DT.97799691  DT.100648745  DT.304003  DT.95370724  DT.102831469 

    24/194 AceView cDNA sequences (see all 194):

    N33215 BG622203 AA649167 AA252798 AA908499 AB014550 AA580744 Z40849 
    AA731440 AA651763 H72329 BM463250 AL043732 AI867015 AA730052 AI373679 
    BU506860 AA873021 AA830149 AI424087 F07765 AL043733 AI032533 T34723 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for SMCHD1    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^
    SP1:                                                              -                                                                 -                       -   
    SP2:                                                              -                                                                                         -   
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                        -   

    ExUns: 24 ^ 25a · 25b
    SP1:  -               
    SP2:  -               
    SP3:                  
    SP4:                  
    SP5:                  


    ECgene alternative splicing isoforms for SMCHD1

    Expression
    for SMCHD1 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SMCHD1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TCAGAACTAT
    SMCHD1 Expression
    About this image

    SMCHD1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Reproductive SystemMesonephrosMesonephric cellsReproductive System
    Reproductive SystemMesonephrosReproductive System
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See SMCHD1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SMCHD1

    SOURCE GeneReport for Unigene cluster: Hs.8118
        SABiosciences Custom PCR Arrays for SMCHD1
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    In Situ
    Assay Products:     
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    Orthologs
    for SMCHD1 gene

    (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)
    About This Section
    This gene was present in the common ancestor of chordates.

    Orthologs for SMCHD1 gene from 5/16 species (see all 16)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Smchd11 , 5 SMC hinge domain containing 11, 5 85.87(n)1
    86.84(a)1    		   17 (41.87 cM)5
    743551  NM_028887.31  NP_083163.31 
     713444895 
    chicken
    (Gallus gallus)    		 Aves SMCHD11 structural maintenance of chromosomes flexible hinge more 75.84(n)
    76.75(a)    		   421057  XM_419144.3  XP_419144.3 
    lizard
    (Anolis carolinensis)    		 Reptilia SMCHD16
    --
    		 --
    		 72(a)
    60(a)
    		 many → 1
    many → 1
    		 AAWZ02034579(7573-77277)
    4(42710737-42735190)
    tropical clawed frog
    (Xenopus tropicalis)    		 Amphibia AL880679.22   -- 75(n)    AL880679.2 
    zebrafish
    (Danio rerio)    		 Actinopterygii BQ074117.12   -- 73.48(n)    BQ074117.1 


    ENSEMBL Gene Tree for SMCHD1 (if available)
    TreeFam Gene Tree for SMCHD1 (if available) 

    Paralogs
    for SMCHD1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    		  --

    Genomic Variants
    for SMCHD1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2909 NCBI SNPs in SMCHD1 are shown (see all 2909)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 18 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1114950431,2
    		C--2616238(+) ACCTAG/ATCCTC 1 -- us2k12Minor allele frequency- A:0.03NA 122
    rs733802671,2
    		C,F--2616362(+) CCTTAA/CGAATT 1 -- us2k13Minor allele frequency- C:0.17WA CSA 122
    rs733802681,2
    		C--2616670(+) CGCCTA/GTTTTC 1 -- us2k12Minor allele frequency- G:0.12WA 120
    rs286525841,2
    		F--2616941(+) GCAGGG/ACGCAG 1 -- us2k11Minor allele frequency- A:0.14WA 118
    rs1115272321,2
    		--2617893(+) CGCTCC/GTTTTA 1 -- int12Minor allele frequency- G:0.02CSA NA 122
    rs6282281,2
    		F,H--2618180(-) CGCCCC/TGCCCC 1 -- int15Minor allele frequency- T:0.03NS EA WA 530
    rs733802691,2
    		C,F--2618256(+) TGCCTG/CTCTGA 1 -- int13Minor allele frequency- C:0.07WA CSA 122
    rs1119170631,2
    		C--2618283(+) ATTTCC/GAAACC 1 -- int11Minor allele frequency- G:0.01NA 120
    rs1123693921,2
    		C--2618451(+) AATATC/TGTCAT 1 -- int10--------
    rs793328971,2
    		F--2618577(+) TTCTAG/AACCAT 1 -- int11Minor allele frequency- A:0.02NA 120

    HapMap Linkage Disequilibrium report for SMCHD1 (2655737 - 2805015 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for SMCHD1: --
    Human Gene Mutation Database (HGMD): SMCHD1

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for SMCHD1 gene

    (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.)
    About This Section
    SMCHD1 for disorders           About GeneDecksing

    OMIM gene information: 614982    OMIM disorders: --

    UniProtKB/Swiss-Prot: SMHD1_HUMAN, A6NHR9
  • Defects in SMCHD1 are the cause of facioscapulohumeral muscular dystrophy 2 (FSHD2) [MIM:158901]. A
    • degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and
    shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals
    usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily
    involving the orbicularis oris and orbicularis oculi muscles. Note=SMCHD1 mutations lead to DUX4 expression in somatic
    tissues, including muscle cells, when an haplotype on chromosome 4 is permissive for DUX4 expression. Ectopic
    expression of DUX4 in skeletal muscle activates the expression of stem cell and germline genes, and, when
    overexpressed in somatic cells, DUX4 can ultimately lead to cell death

    1 disease for SMCHD1:    About MalaCards
    breast cancer

    Human Genome Epidemiology (HuGE) Navigator: SMCHD1 (1 document)

    Export disorders for SMCHD1 gene to outside databases

    Publications
    for SMCHD1 gene

    (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)
    About This Section

    PubMed articles for SMCHD1 gene, integrated from 9 sources (see all 27):
    (articles sorted by number of sources associating them with SMCHD1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9734811)1, 2, 3 Ishikawa K.... Ohara O. (1998)
    2. Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. (PubMed id 23143600)1, 2 Lemmers R.J....van der Maarel S.M. (2012)
    3. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (2012)
    4. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    5. Functional proteomics establishes the interaction of S IRT7 with chromatin remodeling complexes and expands its role in regulation of R NA polymerase I transcription. (PubMed id 22586326)1 Tsai Y.C....Cristea I.M. (2012)
    6. NOTCH1 nuclear interactome reveals key regulators of i ts transcriptional activity and oncogenic function. (PubMed id 23022380)1 Yatim A....Benkirane M. (2012)
    7. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    8. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    9. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    10. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)

    External Searches for SMCHD1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
    		PubMed
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    Genome Databases showing SMCHD1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 23347 HGNC: 29090 AceView: KIAA0650.1 Ensembl:ENSG00000101596 euGenes: HUgn23347
    ECgene: SMCHD1 H-InvDB: SMCHD1

    Other Databases showing SMCHD1 gene

    (According to HUGE)
    About This Section
    HUGE: KIAA0650

    Specialized Databases showing SMCHD1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SMCHD1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for SMCHD1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for SMCHD1 gene:
    Search GeneIP for patents involving SMCHD1

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



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