About   Help   FAQ
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
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr15:84948890-85016158 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 15, 40.25 cM, cytoband E3
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    1426 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2154049
 protein coding gene Chr15:84948890-85016165 (-)
129S1/SvImJ MGP_129S1SvImJ_G0022188
 protein coding gene Chr15:85893265-85969221 (-)
A/J MGP_AJ_G0022147
 protein coding gene Chr15:82717138-82778032 (-)
AKR/J MGP_AKRJ_G0022122
 protein coding gene Chr15:85168246-85232054 (-)
BALB/cJ MGP_BALBcJ_G0022153
 protein coding gene Chr15:82845146-82910920 (-)
C3H/HeJ MGP_C3HHeJ_G0021923
 protein coding gene Chr15:85094084-85161028 (-)
C57BL/6NJ MGP_C57BL6NJ_G0022598
 protein coding gene Chr15:89152984-89224577 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0020123
 protein coding gene Chr15:79064605-79127249 (-)
CAST/EiJ MGP_CASTEiJ_G0021445
 protein coding gene Chr15:85886025-85957067 (-)
CBA/J MGP_CBAJ_G0021890
 protein coding gene Chr15:92049667-92131608 (-)
DBA/2J MGP_DBA2J_G0022017
 protein coding gene Chr15:82189063-82253921 (-)
FVB/NJ MGP_FVBNJ_G0021996
 protein coding gene Chr15:81259733-81323444 (-)
LP/J MGP_LPJ_G0022088
 protein coding gene Chr15:86051039-86143055 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0022016
 protein coding gene Chr15:96825163-96898240 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0022613
 protein coding gene Chr15:85156681-85224344 (-)
PWK/PhJ MGP_PWKPhJ_G0021186
 protein coding gene Chr15:82196384-82260082 (-)
SPRET/EiJ MGP_SPRETEiJ_G0021020
 protein coding gene Chr15:84863511-84932350 (-)
WSB/EiJ MGP_WSBEiJ_G0021494
 protein coding gene Chr15:85651710-85717158 (-)



Homology
more
  • Human Ortholog
    SMC1B, structural maintenance of chromosomes 1B
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SMC1B, structural maintenance of chromosomes 1B
  • Synonyms
    SMC1BETA, SMC1L2
  • Links
    NCBI Gene ID: 27127
    neXtProt AC: NX_Q8NDV3
    UniProt: Q8NDV3

  • Chr Location
    22q13.31; chr22:45344063-45413619 (-)  GRCh38
Human Diseases
less
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    13 phenotypes from 4 alleles in 4 genetic backgrounds
    49 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.
Homozygous mutant mice display male and female infertility, abnormal male and female meiosis, and arrest of spematogenesis.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    22
  • 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
membraneless 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
    725
  • Tissues
    8
  • cDNA Data
    11
  • Literature Summary
    10
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 140557 NCBI Gene Model | MGI Sequence Detail 67269 C57BL/6J ±  kb
    transcript NM_080470 RefSeq | MGI Sequence Detail 4056 Not Specified  
    polypeptide Q920F6 UniProt | EBI | MGI Sequence Detail 1248 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      3 Sequences
    • Protein Ontology
      PR:000015270 structural maintenance of chromosomes protein 1B
      (term hierarchy)
    • InterPro Domains
      IPR027417 P-loop containing nucleoside triphosphate hydrolase
      IPR003395 RecF/RecN/SMC, N-terminal
      IPR028468 Smc1, ATP-binding cassette domain
      IPR010935 SMCs flexible hinge
      IPR036277 SMCs flexible hinge superfamily
      IPR024704 Structural maintenance of chromosomes protein
    • GlyGen
      Q920F6 1 site, 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 16
      Genomic 2
      cDNA 12
      Primer pair 2

      Microarray probesets 2
    References
    more
    • Summaries
      All 90
      Developmental Gene Expression 10
      Diseases 1
      Gene Ontology 14
      Phenotypes 49
    • Earliest
      J:7688 Lane PW, et al., Association of megacolon with a new dominant spotting gene (Dom) in the mouse. J Hered. 1984 Nov-Dec;75(6):435-9
    • Latest
      J:353758 Biswas U, et al., Cohesin SMC1beta promotes closed chromatin and controls TERRA expression at spermatocyte telomeres. Life Sci Alliance. 2023 Jul;6(7)
    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
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    12/17/2024
    MGI 6.24     		The Jackson Laboratory