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Protein Coding Gene : Smc1a structural maintenance of chromosomes 1A

Primary Identifier  MGI:1344345 Organism  mouse, laboratory
Chromosome  X NCBI Gene Number  24061
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Enables chromatin binding activity and mediator complex binding activity. Acts upstream of or within meiotic cell cycle and somatic stem cell population maintenance. Located in nucleus. Part of meiotic cohesin complex. Is expressed in several structures, including alimentary system; brain; genitourinary system; integumental system; and sensory organ. Human ortholog(s) of this gene implicated in Cornelia de Lange syndrome 2; congestive heart failure; and developmental and epileptic encephalopathy 85. Orthologous to human SMC1A (structural maintenance of chromosomes 1A).
PHENOTYPE: Mice homozygous for a disruption in this gene display increased chromosomal instability, decreased cell survival, and defective S-phase checkpoint after ionizing radiation exposure. [provided by MGI curators]
  • synonyms:
  • SMCB,
  • MGI:1915016,
  • Smc1a,
  • structural maintenance of chromosomes 1A,
  • Smc1alpha,
  • 5830426I24Rik,
  • RIKEN cDNA 5830426I24 gene,
  • Smc1l1,
  • SB1.8,
  • Smc1,
  • SMC (structural maintenance of chromosomes 1)-like 1 (S. cerevisiae)

Features --> Cross References

Genome

Sequence Feature Displayer

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

1 Involved In Mutations

0 Strain

0 Transcripts

0 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

17 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications

 

Other

0 Driver For