Smc1b structural maintenance of chromosomes 1B [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Smc1bprovided by MGI
Official Full Name: structural maintenance of chromosomes 1Bprovided by MGI
Primary source: MGI:MGI:2154049
See related: Ensembl:ENSMUSG00000022432 AllianceGenome:MGI:2154049
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: SMC-1B; Smc1l2; SMC1beta
Summary: Enables DNA binding activity. Acts upstream of or within meiotic cell cycle and sister chromatid cohesion. Located in chromosome, centromeric region and lateral element. Part of nuclear meiotic cohesin complex. Orthologous to human SMC1B (structural maintenance of chromosomes 1B). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Restricted expression toward testis adult (RPKM 8.5) See more
Orthologs: human all
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Genomic context

Location:: 15 E2; 15 40.25 cM

Exon count:: 25

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	15	NC_000081.7 (84948890..85016158, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	15	NC_000081.6 (85064689..85131957, complement)

Chromosome 15 - NC_000081.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Whereas SMC1alpha can substitute for SMC1beta in many functions, the protection of telomere integrity requires SMC1beta.
Title: SMC1α Substitutes for Many Meiotic Functions of SMC1β but Cannot Protect Telomeres from Damage.
a novel function of Smc1beta as a spindle assembly checkpoint participant beyond its role in chromosome cohesion during mouse oocyte meiosis, identified.
Title: Smc1β is required for activation of SAC during mouse oocyte meiosis.
super resolution microscopy revealed synapsis-associated SYCP1 aberrantly deposited between sister chromatids and on single chromatids in Smc1b-/-Rad21L-/- cells.
Title: Distinct Roles of Meiosis-Specific Cohesin Complexes in Mammalian Spermatogenesis.
Data show that structural maintenance of chromosomes protein 1B (Smc1b) is expressed in somatic cells.
Title: SMC1B is present in mammalian somatic cells and interacts with mitotic cohesin proteins.
Together with previous knowledge, three main functions of SMC1b have emerged, which have multiple consequences for spermatocyte biology.
Title: Meiotic cohesin SMC1β provides prophase I centromeric cohesion and is required for multiple synapsis-associated functions.
We report here evidence from the mouse that partial loss of gene function for either Smc1b or Rec8 causes perturbations in the formation of the synaptonemal complex (SC) and affects both synapsis and recombination between homologs during meiotic prophase
Title: Altered cohesin gene dosage affects Mammalian meiotic chromosome structure and behavior.
telomere structure protected from DNA rearrangements depends on SMC1beta.
Title: Cohesin SMC1beta protects telomeres in meiocytes.
A deletion of 16 nucleotides in exon 5 led to a frame-shift, which generated a stop codon at position 761 (amino acid 247) of the Smc1b cDNA in mutant mice.
Title: A spontaneous smc1b mutation causes cohesin protein dysfunction and sterility in mice.
In addition to its role in sister chromatid cohesion, Smc1beta determines meiotic chromatin loop organization.
Title: Cohesin Smc1beta determines meiotic chromatin axis loop organization.
SMC1 beta-deficient mice of both sexes are sterile. Male meiosis is blocked in pachytene; female meiosis is highly error-prone but continues until metaphase II.
Title: Cohesin SMC1 beta is required for meiotic chromosome dynamics, sister chromatid cohesion and DNA recombination.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Spontaneous (1) 1 citation
Targeted (3) 1 citation
Chemically induced (ENU) (1)
Endonuclease-mediated (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within cell cycle	IEA Inferred from Electronic Annotation more info
involved_in chromosome organization	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within meiotic cell cycle	IPI Inferred from Physical Interaction more info	PubMed
involved_in sister chromatid cohesion	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within sister chromatid cohesion	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in chromosome	IEA Inferred from Electronic Annotation more info
located_in chromosome, centromeric region	IDA Inferred from Direct Assay more info	PubMed
part_of cohesin complex	IEA Inferred from Electronic Annotation more info
located_in condensed nuclear chromosome	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in lateral element	IDA Inferred from Direct Assay more info	PubMed
part_of meiotic cohesin complex	IBA Inferred from Biological aspect of Ancestor more info
part_of meiotic cohesin complex	IDA Inferred from Direct Assay more info	PubMed
part_of meiotic cohesin complex	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in synaptonemal complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: structural maintenance of chromosomes protein 1B

Names: SMC protein 1B; SMC-1-beta; structural maintenace of chromosomes 1B

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_080470.1 → NP_536718.1 structural maintenance of chromosomes protein 1B

See identical proteins and their annotated locations for NP_536718.1

Status: PROVISIONAL

Source sequence(s)

AF303827

Consensus CDS

CCDS27718.1

UniProtKB/Swiss-Prot

Q920F6

UniProtKB/TrEMBL

A1L2Z0

Related

ENSMUSP00000023068.7, ENSMUST00000023068.8

Conserved Domains (4) summary

cd03275
Location:4 → 148

ABC_SMC1_euk; ATP-binding cassette domain of eukaryotic SMC1 proteins

smart00968
Location:513 → 628

SMC_hinge; SMC proteins Flexible Hinge Domain

COG1196
Location:3 → 1199

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

cl19219
Location:421 → 492

DUF342; Protein of unknown function (DUF342)