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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
Location & Maps
more
  • Sequence Map
    ChrX:152016428-152062694 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      46267 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome X, 68.46 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    SMC1A, structural maintenance of chromosomes 1A
  • Vertebrate Orthologs
    11
  • Human Ortholog
    SMC1A, structural maintenance of chromosomes 1A
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CDLS2, DXS423E, SB1.8, SMC1, SMC1alpha, SMC1L1, SMCB
  • Links
    NCBI Gene ID: 8243
    neXtProt AC: NX_Q14683

  • Chr Location
    Xp11.22-p11.21; chrX:53374149-53422728 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 4597
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;2 zebrafish
  • HCOP
    human homology predictions: SMC1A
  • Protein SuperFamily
    SMC
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with human SMC1A associations

Human Disease Mouse Models
       Cornelia De Lange Syndrome 2; CDLS2   OMIM: 300590
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    5 phenotypes from 1 allele in 1 genetic background
    6 phenotypes from multigenic genotypes
    5 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
    3
  • Targeted
    3
  • Incidental Mutations
    APF
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
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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 OTTMUSG00000019685 VEGA Gene Model | MGI Sequence Detail 46267 C57BL/6J ±  kb
transcript OTTMUST00000047121 VEGA | MGI Sequence Detail 4691 Not Applicable  
polypeptide OTTMUSP00000021286 VEGA | MGI Sequence Detail 1233 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    143 from dbSNP Build 142
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
    IPR024704 Structural maintenance of chromosomes protein
    IPR029683 Structural maintenance of chromosomes protein 1A, metazoan
Molecular
Reagents
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  • All nucleic 17
    cDNA 17

    Microarray probesets 7
Other
Accession IDs
less
MGI:1915016
References
more
  • Summaries
    All 47
    Developmental Gene Expression 10
    Gene Ontology 9
    Phenotypes 5
  • 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:204577 DeMare LE, et al., The genomic landscape of cohesin-associated chromatin interactions. Genome Res. 2013 Aug;23(8):1224-34

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
08/17/2016
MGI 6.05
The Jackson Laboratory