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Smc1b Gene Detail
Summary
  • Symbol
    Smc1b
  • Name
    structural maintenance of chromosomes 1B
  • Synonyms
    SMC1beta, Smc1l2
  • Feature Type
    protein coding gene
  • IDs
    MGI:2154049
    NCBI Gene: 140557
Location & Maps
more
  • Sequence Map
    Chr15:85064691-85131957 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      67267 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    SMC1B, structural maintenance of chromosomes 1B
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SMC1B, structural maintenance of chromosomes 1B
    Orthology source: HGNC, HomoloGene
  • Synonyms
    SMC1BETA, SMC1L2
  • Links
    NCBI Gene ID: 27127
    neXtProt AC: NX_Q8NDV3

  • Chr Location
    22q13.31; chr22:45344063-45413629 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 13786
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: SMC1B
  • Protein SuperFamily
    SMC
  • Gene Tree
Human Diseases
less
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    13 phenotypes from 4 alleles in 4 genetic backgrounds
    38 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    14
  • Chemically induced (ENU)
    1
  • Chemically induced (other)
    1
  • Gene trapped
    4
  • Radiation induced
    2
  • Spontaneous
    1
  • Targeted
    5
  • Genomic Mutations
    3 involving Smc1b
  • Incidental Mutations
Homozygous mutant mice display male and female infertility, abnormal male and female meiosis, and arrest of spematogenesis.
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
less
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000022432 Ensembl Gene Model | MGI Sequence Detail 67267 C57BL/6J ±  kb
transcript ENSMUST00000023068 Ensembl | MGI Sequence Detail 4038 Not Applicable  
polypeptide ENSMUSP00000023068 Ensembl | MGI Sequence Detail 1248 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    518 from dbSNP Build 137
Protein
Information
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  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000015270 structural maintenance of chromosomes protein 1B
  • 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
Molecular
Reagents
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  • All nucleic 12
    Genomic 1
    cDNA 11

    Microarray probesets 2
References
more
  • Summaries
    All 51
    Developmental Gene Expression 6
    Diseases 1
    Gene Ontology 11
    Phenotypes 38
  • Earliest
    J:71579 Revenkova E, et al., Novel meiosis-specific isoform of mammalian smc1. Mol Cell Biol. 2001 Oct;21(20):6984-98
  • Latest
    J:228043 Marangos P, et al., DNA damage-induced metaphase I arrest is mediated by the spindle assembly checkpoint and maternal age. Nat Commun. 2015;6:8706

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory