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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
  • Gene Overview
    MyGene.info: SMC1A
  • Alliance
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:152016428-152061973 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • 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:152016428-152062694 (.)
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
    11
  • Human Ortholog
    SMC1A, structural maintenance of chromosomes 1A
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CDLS2, DXS423E, 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.p7

  • HomoloGene
    Vertebrate Homology Class 4597
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;2 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: SMC1A
  • Protein SuperFamily
    SMC
  • Gene Tree
Human Diseases
less
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    5 phenotypes from 1 allele in 1 genetic background
    6 phenotypes from multigenic genotypes
    6 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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
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  • All GO Annotations
  • GO References
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 death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
synapse
vacuole
Click cells to view annotations.
Expression
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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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic 24061 NCBI Gene Model | MGI Sequence Detail 45546 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
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  • UniProt
    5 Sequences
  • Protein Ontology
    PR:000015269 structural maintenance of chromosomes protein 1A
  • PDB
  • InterPro Domains
    IPR027417 P-loop containing nucleoside triphosphate hydrolase
    IPR003395 RecF/RecN/SMC, N-terminal
    IPR010935 SMCs flexible hinge
    IPR036277 SMCs flexible hinge superfamily
    IPR024704 Structural maintenance of chromosomes protein
    IPR029683 Structural maintenance of chromosomes protein 1A, metazoan
Molecular
Reagents
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  • All nucleic 18
    cDNA 18

    Microarray probesets 7
Other
Accession IDs
less
MGI:1915016
References
more
  • Summaries
    All 53
    Developmental Gene Expression 12
    Diseases 1
    Gene Ontology 11
    Phenotypes 6
  • 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:261973 Bellelli R, et al., Polepsilon Instability Drives Replication Stress, Abnormal Development, and Tumorigenesis. Mol Cell. 2018 May 17;70(4):707-721.e7

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
11/06/2018
MGI 6.13
The Jackson Laboratory