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Smc1a Gene Detail
Summary
  • Symbol
    Smc1a
  • Name
    structural maintenance of chromosomes 1A
  • Synonyms
    5830426I24Rik, SB1.8, Smc1, Smc1alpha, Smc1l1, SMCB
  • Feature Type
    protein coding gene
  • IDs
    MGI:1344345
    NCBI Gene: 24061
  • Alliance
    gene page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:150799386-150844969 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 68.46 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    139 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1344345
 protein coding gene ChrX:150799386-150845690 (+)
129S1/SvImJ MGP_129S1SvImJ_G0036182
 protein coding gene ChrX:149771657-149816041 (+)
A/J MGP_AJ_G0036158
 protein coding gene ChrX:148961222-149006218 (+)
AKR/J MGP_AKRJ_G0036084
 protein coding gene ChrX:153789489-153840676 (+)
BALB/cJ MGP_BALBcJ_G0036149
 protein coding gene ChrX:147153596-147199835 (+)
C3H/HeJ MGP_C3HHeJ_G0035857
 protein coding gene ChrX:149977773-150032335 (+)
C57BL/6NJ MGP_C57BL6NJ_G0036674
 protein coding gene ChrX:154037616-154086402 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0033498
 protein coding gene ChrX:140655470-140699457 (+)
CAST/EiJ MGP_CASTEiJ_G0035148
 protein coding gene ChrX:129394025-129446542 (+)
CBA/J MGP_CBAJ_G0035834
 protein coding gene ChrX:158565994-158618419 (+)
DBA/2J MGP_DBA2J_G0035992
 protein coding gene ChrX:148035373-148079696 (+)
FVB/NJ MGP_FVBNJ_G0035926
 protein coding gene ChrX:147163911-147209223 (+)
LP/J MGP_LPJ_G0036083
 protein coding gene ChrX:150865449-150913093 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0035962
 protein coding gene ChrX:166726952-166777728 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0036709
 protein coding gene ChrX:149287450-149335201 (+)
PWK/PhJ MGP_PWKPhJ_G0034842
 protein coding gene ChrX:126345943-126392299 (+)
SPRET/EiJ MGP_SPRETEiJ_G0034668
 protein coding gene ChrX:129857393-129904922 (+)
WSB/EiJ MGP_WSBEiJ_G0035283
 protein coding gene ChrX:147350002-147397039 (+)



Homology
more
  • Human Ortholog
    SMC1A, structural maintenance of chromosomes 1A
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SMC1A, structural maintenance of chromosomes 1A
  • Synonyms
    CDLS2, DEE85, DXS423E, EIEE85, SB1.8, SMC1, SMC1alpha, SMC1L1, SMCB
  • Links
    NCBI Gene ID: 8243
    neXtProt AC: NX_Q14683
    UniProt: Q14683

  • Chr Location
    Xp11.22; chrX:53374149-53422728 (-)  GRCh38
Human Diseases
more
  • Diseases
    3 with human SMC1A associations

Human Disease Mouse Models
      
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    5 phenotypes from 1 allele in 1 genetic background
    6 phenotypes from multigenic genotypes
    9 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    7
  • Endonuclease-mediated
    2
  • Gene trapped
    1
  • Targeted
    4
  • Genomic Mutations
    1 involving Smc1a
  • Incidental Mutations
    APF
  • Find Mice (IMSR)
    10 strains or lines available
Mice homozygous for a disruption in this gene display increased chromosomal instability, decreased cell survival, and defective S-phase checkpoint after ionizing radiation exposure.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    51
  • GO References
    14
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    839
  • Tissues
    110
  • cDNA Data
    18
  • Literature Summary
    20
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic 24061 NCBI Gene Model | MGI Sequence Detail 45584 C57BL/6J ±  kb
transcript NM_019710 RefSeq | MGI Sequence Detail 3980 C57BL/6  
polypeptide Q9CU62 UniProt | EBI | MGI Sequence Detail 1233 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 22
    cDNA 18
    Primer pair 3
    Other 1

    Microarray probesets 7
Other
Accession IDs
less
MGI:1915016
References
more
  • Summaries
    All 68
    Developmental Gene Expression 20
    Diseases 1
    Gene Ontology 14
    Phenotypes 9
  • Earliest
    J:22947 Sultana R, et al., The mouse Sb1.8 gene located at the distal end of the X chromosome is subject to X inactivation. Hum Mol Genet. 1995 Feb;4(2):257-63
  • Latest
    J:342642 Linares-Saldana R, et al., BRD4 orchestrates genome folding to promote neural crest differentiation. Nat Genet. 2021 Oct;53(10):1480-1492
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
04/16/2024
MGI 6.23 		The Jackson Laboratory