1. Gene
  2. SMC5 - structural maintenance of chromosomes 5 Gene

SMC5 - structural maintenance of chromosomes 5 Gene

Homo sapiens

Also known as SMC5L1

Gene ID: 23137 | Gene type: protein coding

About SMC5

Cytogenetic location: 9q21.12 Genomic coordinates (GRCh38): 9:70,258,978-70,354,873 (from NCBI)

This gene has 4 transcripts (splice variants), 120 orthologues and 1 paralogue. Ubiquitous expression in ovary (RPKM 12.4), lymph node (RPKM 10.1) and 25 other tissues.

Summary

Predicted to enable ATP binding activity. Involved in several processes, including DNA recombination; cellular senescence; and positive regulation of maintenance of mitotic sister chromatid cohesion. Located in cell junction; chromosome; and nuclear body. Part of Smc5-Smc6 complex. [provided by Alliance of Genome Resources, Apr 2022]

SMC5 Products(1)

mRNA Protein Name
NM_015110.4 NP_055925.2 structural maintenance of chromosomes protein 5
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables DNA secondary structure binding IDA
IDA: Inferred from direct assay
28095508 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
11408570 GOA
Biological Process GO Annotation Evidence Reference Source
involved in DNA damage response IDA
IDA: Inferred from direct assay
11408570 GOA
involved in cellular senescence IMP
IMP: Inferred from mutant phenotype
17589526 GOA
involved in double-strand break repair via homologous recombination IMP
IMP: Inferred from mutant phenotype
16810316 GOA
NOT involved in double-strand break repair via nonhomologous end joining IMP
IMP: Inferred from mutant phenotype
16810316 GOA
involved in negative regulation by host of viral genome replication IDA
IDA: Inferred from direct assay
28095508 GOA
involved in positive regulation of chromosome segregation IMP
IMP: Inferred from mutant phenotype
25931565 GOA
involved in positive regulation of maintenance of mitotic sister chromatid cohesion IMP
IMP: Inferred from mutant phenotype
19502785 GOA
involved in telomere maintenance via recombination IMP
IMP: Inferred from mutant phenotype
17589526 GOA
Cellular Component GO Annotation Evidence Reference Source
located in PML body IDA
IDA: Inferred from direct assay
17589526 GOA
part of Smc5-Smc6 complex IDA
IDA: Inferred from direct assay
18086888 GOA
located in chromosome, telomeric region IDA
IDA: Inferred from direct assay
17589526 GOA
located in interchromatin granule IDA
IDA: Inferred from direct assay
11408570 GOA
is active in nucleus IDA
IDA: Inferred from direct assay
28095508 GOA
located in nucleus IDA
IDA: Inferred from direct assay
11408570 GOA
located in site of double-strand break IDA
IDA: Inferred from direct assay
25931565 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SMC5 Protein Structure

SMC_N

SMC_N: RecF/RecN/SMC N terminal domain (53 - 1053)

  • 0
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  • 1101 a.a.
Protein Preferred Names Protein Names

structural maintenance of chromosomes protein 5

SMC protein 5

SMC5 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
SMC5 Q8IY18 DISC1 Homo sapiens Q9NRI5-2
Y2H Prey Pooling
32296183
Intra
SMC5 Q8IY18 DISC1 Homo sapiens Q9NRI5-2
Y2H Array
32296183
Intra
SMC5 Q8IY18 DISC1 Homo sapiens Q9NRI5-2
Validated Y2H
32296183
Intra
SMC5 Q8IY18 SLF2 Homo sapiens Q8IX21
BioID
36373674
Intra
SMC5 Q8IY18 SLF2 Homo sapiens Q8IX21
Pull Down
32389690
Intra
SMC5 Q8IY18 SMC6 Homo sapiens Q96SB8
Crosslink
32389690
Intra
SMC5 Q8IY18 SMC6 Homo sapiens Q96SB8
BioID
36373674
Intra
SMC5 Q8IY18 SMC6 Homo sapiens Q96SB8
Y2H
15601840
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Cornelia De Lange Syndrome

De Lange Syndrome

Brachmann De Lange Syndrome

Brachmann-De Lange Syndrome

Cdls

Bdls

Typus Degenerativus Amstelodamensis

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus SMC5 RGD RGD:1307492
Bos taurus SMC5 VGNC VGNC:35002
Canis familiaris SMC5 VGNC VGNC:46546
Felis catus SMC5 VGNC VGNC:65479
Mus musculus SMC5 MGD MGI:2385088