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Aliases for SMC5 Gene

Aliases for SMC5 Gene

  • Structural Maintenance Of Chromosomes 5 2 3 5
  • SMC Protein 5 3 4
  • SMC5L1 3 4
  • SMC-5 3 4
  • HSMC5 3 4
  • SMC5 Structural Maintenance Of Chromosomes 5-Like 1 (Yeast) 2
  • SMC5 Structural Maintenance Of Chromosomes 5-Like 1 3
  • KIAA0594 4

External Ids for SMC5 Gene

Previous HGNC Symbols for SMC5 Gene

  • SMC5L1

Previous GeneCards Identifiers for SMC5 Gene

  • GC09P072063
  • GC09P072873
  • GC09P042713

Summaries for SMC5 Gene

GeneCards Summary for SMC5 Gene

SMC5 (Structural Maintenance Of Chromosomes 5) is a Protein Coding gene. Diseases associated with SMC5 include kabuki syndrome 1. Among its related pathways are Transport to the Golgi and subsequent modification and SUMOylation.

UniProtKB/Swiss-Prot for SMC5 Gene

  • Core component of the SMC5-SMC6 complex, a complex involved in repair of DNA double-strand breaks by homologous recombination. The complex may promote sister chromatid homologous recombination by recruiting the SMC1-SMC3 cohesin complex to double-strand breaks. The complex is required for telomere maintenance via recombination in ALT (alternative lengthening of telomeres) cell lines and mediates sumoylation of shelterin complex (telosome) components which is proposed to lead to shelterin complex disassembly in ALT-associated PML bodies (APBs). Required for recruitment of telomeres to PML nuclear bodies. Required for sister chromatid cohesion during prometaphase and mitotic progression; the function seems to be independent of SMC6.

Gene Wiki entry for SMC5 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SMC5 Gene

Genomics for SMC5 Gene

Regulatory Elements for SMC5 Gene

Promoters for SMC5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SMC5 on UCSC Golden Path with GeneCards custom track

Genomic Location for SMC5 Gene

Chromosome:
9
Start:
70,258,962 bp from pter
End:
70,354,888 bp from pter
Size:
95,927 bases
Orientation:
Plus strand

Genomic View for SMC5 Gene

Genes around SMC5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SMC5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SMC5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SMC5 Gene

Proteins for SMC5 Gene

  • Protein details for SMC5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IY18-SMC5_HUMAN
    Recommended name:
    Structural maintenance of chromosomes protein 5
    Protein Accession:
    Q8IY18
    Secondary Accessions:
    • A6NM81
    • O60335
    • Q05D92
    • Q5VZ60
    • Q96SB9

    Protein attributes for SMC5 Gene

    Size:
    1101 amino acids
    Molecular mass:
    128806 Da
    Quaternary structure:
    • Forms a heterodimer with SMC6 (PubMed:11408570). Component of the SMC5-SMC6 complex which consists at least of SMC5, SMC6, NSMCE2, NSMCE1, NSMCE4A or EID3 and NSMCE3 (PubMed:18086888). Interacts with NSMCE2 (PubMed:16055714). Interacts with SLF2; this interaction induces an association of the SLF1-SLF2 complex with the SMC5-SMC6 complex (PubMed:25931565). Interacts with RAD18; this interaction is increased in a SLF1 or SLF2-dependent manner (PubMed:25931565).
    SequenceCaution:
    • Sequence=AAH17666.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

neXtProt entry for SMC5 Gene

Proteomics data for SMC5 Gene at MOPED

Post-translational modifications for SMC5 Gene

Other Protein References for SMC5 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SMC5 Gene

Domains & Families for SMC5 Gene

Protein Domains for SMC5 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SMC5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8IY18

UniProtKB/Swiss-Prot:

SMC5_HUMAN :
  • The flexible hinge domain, which separates the large intramolecular coiled coil regions, allows the heterotypic interaction with the corresponding domain of SMC6, forming a V-shaped heterodimer.
  • Belongs to the SMC family. SMC5 subfamily.
Domain:
  • The flexible hinge domain, which separates the large intramolecular coiled coil regions, allows the heterotypic interaction with the corresponding domain of SMC6, forming a V-shaped heterodimer.
Family:
  • Belongs to the SMC family. SMC5 subfamily.
genes like me logo Genes that share domains with SMC5: view

Function for SMC5 Gene

Molecular function for SMC5 Gene

UniProtKB/Swiss-Prot Function:
Core component of the SMC5-SMC6 complex, a complex involved in repair of DNA double-strand breaks by homologous recombination. The complex may promote sister chromatid homologous recombination by recruiting the SMC1-SMC3 cohesin complex to double-strand breaks. The complex is required for telomere maintenance via recombination in ALT (alternative lengthening of telomeres) cell lines and mediates sumoylation of shelterin complex (telosome) components which is proposed to lead to shelterin complex disassembly in ALT-associated PML bodies (APBs). Required for recruitment of telomeres to PML nuclear bodies. Required for sister chromatid cohesion during prometaphase and mitotic progression; the function seems to be independent of SMC6.
genes like me logo Genes that share phenotypes with SMC5: view

Animal Models for SMC5 Gene

MGI Knock Outs for SMC5:
  • Smc5 tm1b(KOMP)Wtsi

Animal Model Products

  • Taconic Biosciences Mouse Models for SMC5

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SMC5 Gene

Localization for SMC5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SMC5 Gene

Nucleus. Chromosome. Nucleus, PML body. Chromosome, telomere. Note=Associates with chromatin (PubMed:25931565). Colocalizes with SMC6 on the X-Y chromosome pair within the sex vesicle during late pachytene/diplotene (By similarity). Localizes to PML nuclear bodies in ALT cell lines (PubMed:17589526). Accumulates with RAD18 and the SLF1-SLF2 complex at replication-coupled DNA interstrand repair and DNA double-strand breaks (DSBs) sites on chromatin in a ubiquitin-dependent manner (PubMed:25931565). {ECO:0000250 UniProtKB:Q8CG46, ECO:0000269 PubMed:25931565}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SMC5 Gene COMPARTMENTS Subcellular localization image for SMC5 gene
Compartment Confidence
nucleus 5
cytosol 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for SMC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016605 PML body IDA 17589526
GO:0030915 Smc5-Smc6 complex IDA 18086888
genes like me logo Genes that share ontologies with SMC5: view

Pathways & Interactions for SMC5 Gene

genes like me logo Genes that share pathways with SMC5: view

Gene Ontology (GO) - Biological Process for SMC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000722 telomere maintenance via recombination IMP 17589526
GO:0034184 positive regulation of maintenance of mitotic sister chromatid cohesion IMP 19502785
GO:0043687 post-translational protein modification TAS --
GO:0044267 cellular protein metabolic process TAS --
GO:0051301 cell division IEA --
genes like me logo Genes that share ontologies with SMC5: view

No data available for SIGNOR curated interactions for SMC5 Gene

Drugs & Compounds for SMC5 Gene

(4) Drugs for SMC5 Gene - From: ApexBio

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
KPT-185 Pharma CRM1 inhibitor,selective and irrversible 0
KPT-276 Pharma 0
KPT-330 Pharma 0
Verdinexor (KPT-335) Pharma 0

(4) ApexBio Compounds for SMC5 Gene

Compound Action Cas Number
KPT-185 CRM1 inhibitor,selective and irrversible 1333151-73-7
KPT-276 1421919-75-6
KPT-330 1393477-72-9
Verdinexor (KPT-335) 1392136-43-4
genes like me logo Genes that share compounds with SMC5: view

Transcripts for SMC5 Gene

Unigene Clusters for SMC5 Gene

Structural maintenance of chromosomes 5:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SMC5 Gene

No ASD Table

Relevant External Links for SMC5 Gene

GeneLoc Exon Structure for
SMC5
ECgene alternative splicing isoforms for
SMC5

Expression for SMC5 Gene

mRNA expression in normal human tissues for SMC5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SMC5 Gene

This gene is overexpressed in Blymphocyte (25.1), Lymph node (15.7), Testis (7.4), and Peripheral blood mononuclear cells (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SMC5 Gene



SOURCE GeneReport for Unigene cluster for SMC5 Gene Hs.534189

mRNA Expression by UniProt/SwissProt for SMC5 Gene

Q8IY18-SMC5_HUMAN
Tissue specificity: Widely expressed (PubMed:11408570). Strongly expressed in testis (PubMed:11408570).
genes like me logo Genes that share expression patterns with SMC5: view

Protein tissue co-expression partners for SMC5 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for SMC5 Gene

Orthologs for SMC5 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SMC5 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SMC5 35
  • 92.19 (n)
  • 92.64 (a)
SMC5 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SMC5 35
  • 90.86 (n)
  • 93.19 (a)
SMC5 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Smc5 35
  • 87.06 (n)
  • 89.55 (a)
Smc5 16
Smc5 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SMC5 35
  • 99.67 (n)
  • 99.46 (a)
SMC5 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Smc5 35
  • 87.21 (n)
  • 90.87 (a)
oppossum
(Monodelphis domestica)
Mammalia SMC5 36
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SMC5 36
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves SMC5 35
  • 70.12 (n)
  • 64.63 (a)
SMC5 36
  • 59 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SMC5 36
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia smc5 35
  • 68.85 (n)
  • 68.38 (a)
African clawed frog
(Xenopus laevis)
Amphibia smc5 35
zebrafish
(Danio rerio)
Actinopterygii -- 35
smc5 35
  • 60.65 (n)
  • 58.5 (a)
smc5 36
  • 57 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011623 35
  • 42.3 (n)
  • 32.11 (a)
fruit fly
(Drosophila melanogaster)
Insecta Smc5 35
  • 43.55 (n)
  • 30.85 (a)
Smc5 36
  • 27 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea smc-5 36
  • 27 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL337C 35
  • 55.56 (n)
  • 53.74 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F07997g 35
  • 44.78 (n)
  • 30.38 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SMC5 35
  • 59.01 (n)
  • 52.7 (a)
SMC5 36
  • 26 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons SMC5 35
  • 46.1 (n)
  • 35.3 (a)
rice
(Oryza sativa)
Liliopsida Os05g0596600 35
  • 46.39 (n)
  • 35.26 (a)
corn
(Zea mays)
Liliopsida Zm.1043 35
bread mold
(Neurospora crassa)
Ascomycetes NCU09065 35
  • 43.49 (n)
  • 32.17 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes smc5 35
  • 44.64 (n)
  • 32.69 (a)
Species with no ortholog for SMC5:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SMC5 Gene

ENSEMBL:
Gene Tree for SMC5 (if available)
TreeFam:
Gene Tree for SMC5 (if available)

Paralogs for SMC5 Gene

Pseudogenes.org Pseudogenes for SMC5 Gene

genes like me logo Genes that share paralogs with SMC5: view

No data available for Paralogs for SMC5 Gene

Variants for SMC5 Gene

Sequence variations from dbSNP and Humsavar for SMC5 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs1180116 - 70,282,518(+) TTCCT(A/G)TAACA reference, missense
rs1180117 - 70,282,524(+) TAACA(C/T)GTCGA reference, missense
rs11142365 - 70,318,858(+) CAAAC(A/G)TCTGG reference, missense
rs1104709 -- 70,329,882(+) gggag(G/T)cctca intron-variant
rs1112937 -- 70,299,336(-) TTAAA(A/T)AAAAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SMC5 Gene

Variant ID Type Subtype PubMed ID
nsv6555 CNV Insertion 18451855
nsv831615 CNV Gain 17160897
nsv507515 CNV Insertion 20534489
esv2484591 CNV Deletion 19546169

Variation tolerance for SMC5 Gene

Residual Variation Intolerance Score: 16.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.82; 73.82% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SMC5 Gene

HapMap Linkage Disequilibrium report
SMC5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMC5 Gene

Disorders for SMC5 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SMC5 Gene - From: DISEASES

Disorder Aliases PubMed IDs
kabuki syndrome 1
  • kabuki syndrome
- elite association - COSMIC cancer census association via MalaCards
Search SMC5 in MalaCards View complete list of genes associated with diseases

Relevant External Links for SMC5

Genetic Association Database (GAD)
SMC5
Human Genome Epidemiology (HuGE) Navigator
SMC5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SMC5
genes like me logo Genes that share disorders with SMC5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SMC5 Gene

Publications for SMC5 Gene

  1. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9628581) Nagase T. … Ohara O. (DNA Res. 1998) 2 3 4 67
  2. DNA repair. Proteomics reveals dynamic assembly of repair complexes during bypass of DNA cross-links. (PMID: 25931565) RAoschle M. … Mann M. (Science 2015) 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  5. Smc5/6-mediated regulation of replication progression contributes to chromosome assembly during mitosis in human cells. (PMID: 24258023) Gallego-Paez L.M. … Hirota T. (Mol. Biol. Cell 2014) 3

Products for SMC5 Gene

Sources for SMC5 Gene

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