Human Gene SMC1B (ENST00000357450.9_7) from GENCODE V47lift37
  Description: structural maintenance of chromosomes 1B, transcript variant 1 (from RefSeq NM_148674.5)
Gencode Transcript: ENST00000357450.9_7
Gencode Gene: ENSG00000077935.17_9
Transcript (Including UTRs)
   Position: hg19 chr22:45,739,944-45,809,480 Size: 69,537 Total Exon Count: 25 Strand: -
Coding Region
   Position: hg19 chr22:45,740,437-45,809,448 Size: 69,012 Coding Exon Count: 25 

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RNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr22:45,739,944-45,809,480)mRNA (may differ from genome)Protein (1235 aa)
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-  Comments and Description Text from UniProtKB
  ID: SMC1B_HUMAN
DESCRIPTION: RecName: Full=Structural maintenance of chromosomes protein 1B; Short=SMC protein 1B; Short=SMC-1-beta; Short=SMC-1B;
FUNCTION: Meiosis-specific component of cohesin complex. Required for the maintenance of meiotic cohesion, but not, or only to a minor extent, for its establishment. Contributes to axial element (AE) formation and the organization of chromatin loops along the AE. Plays a key role in synapsis, recombination and chromosome movements. The cohesin complex is required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. The meiosis-specific cohesin complex probably replaces mitosis specific cohesin complex when it dissociates from chromatin during prophase I (By similarity).
SUBUNIT: Forms a heterodimer with SMC3. Component of a meiosis- specific cohesin complex, probably composed of the SMC1B and SMC3 heterodimer attached via their hinge domain, RAD21 (or its meiosis-specific related protein REC8), which link them, and STAG3, which interacts with RAD21 or REC8 (By similarity).
SUBCELLULAR LOCATION: Nucleus. Chromosome (By similarity). Chromosome, centromere (By similarity). Note=Associates with chromatin. In prophase I stage of meiosis, localizes along the AE of synaptonemal complexes. In late-pachytene-diplotene, the bulk of protein dissociates from the chromosome arms probably because of phosphorylation by PLK, except at centromeres, where cohesin complexes remain. Remains chromatin associated at the centromeres up to metaphase II. At anaphase II, dissociates from centromeres, allowing chromosomes segregation (By similarity).
DOMAIN: The flexible hinge domain, which separates the large intramolecular coiled coil regions, allows the heterotypic interaction with the corresponding domain of SMC3, forming a V- shaped heterodimer. The two heads of the heterodimer are then connected by different ends of the cleavable RAD21 or REC8 protein, forming a ring structure (By similarity).
SIMILARITY: Belongs to the SMC family. SMC1 subfamily.
SEQUENCE CAUTION: Sequence=BAC86266.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 27.75 RPKM in Testis
Total median expression: 29.35 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -8.9032-0.278 Picture PostScript Text
3' UTR -113.50493-0.230 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003395 - RecF/RecN/SMC
IPR024704 - SMC
IPR010935 - SMC_hinge

Pfam Domains:
PF02463 - RecF/RecN/SMC N terminal domain
PF06470 - SMC proteins Flexible Hinge Domain
PF13175 - AAA ATPase domain
PF13304 - AAA domain, putative AbiEii toxin, Type IV TA system

SCOP Domains:
52540 - P-loop containing nucleoside triphosphate hydrolases
53795 - PEP carboxykinase-like
75553 - Smc hinge domain

ModBase Predicted Comparative 3D Structure on Q8NDV3
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003677 DNA binding
GO:0005524 ATP binding

Biological Process:
GO:0007049 cell cycle
GO:0007062 sister chromatid cohesion
GO:0051276 chromosome organization
GO:0051321 meiotic cell cycle

Cellular Component:
GO:0000775 chromosome, centromeric region
GO:0000794 condensed nuclear chromosome
GO:0000795 synaptonemal complex
GO:0000800 lateral element
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005694 chromosome
GO:0005829 cytosol
GO:0030893 meiotic cohesin complex
GO:0034991 nuclear meiotic cohesin complex


-  Descriptions from all associated GenBank mRNAs
  AK125736 - Homo sapiens cDNA FLJ43748 fis, clone TESTI2034520, moderately similar to Rattus norvegicus SMC (segregation of mitotic chromosomes 1)-like 1 (Smc1l1).
BC126208 - Homo sapiens structural maintenance of chromosomes 1B, mRNA (cDNA clone MGC:161486 IMAGE:8991924), complete cds.
AJ504806 - Homo sapiens mRNA for SMC1beta protein.
KJ902451 - Synthetic construct Homo sapiens clone ccsbBroadEn_11845 SMC1B gene, encodes complete protein.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q8NDV3 (Reactome details) participates in the following event(s):

R-HSA-912467 BRCA1 is recruited to unsynapsed regions
R-HSA-912470 ATR phosphorylates Histone H2A.X at unsynapsed regions
R-HSA-912450 ATR Kinase is recruited to unsynapsed regions
R-HSA-1221632 Meiotic synapsis
R-HSA-1500620 Meiosis
R-HSA-1474165 Reproduction
R-HSA-1640170 Cell Cycle

-  Other Names for This Gene
  Alternate Gene Symbols: A0AV46, B0QY23, B0QY24, ENST00000357450.1, ENST00000357450.2, ENST00000357450.3, ENST00000357450.4, ENST00000357450.5, ENST00000357450.6, ENST00000357450.7, ENST00000357450.8, NM_148674, Q5TIC3, Q6ZUF9, Q8NDV3, Q9Y3G5, SMC1B_HUMAN, SMC1L2, uc318abb.1, uc318abb.2
UCSC ID: ENST00000357450.9_7
RefSeq Accession: NM_148674.5
Protein: Q8NDV3 (aka SMC1B_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.