Human Gene SMC4 (ENST00000357388.8) from GENCODE V44
  Description: Homo sapiens structural maintenance of chromosomes 4 (SMC4), transcript variant 2, mRNA. (from RefSeq NM_001002800)
RefSeq Summary (NM_001002800): This gene belongs to the 'structural maintenance of chromosomes' (SMC) gene family. Members of this gene family play a role in two changes in chromosome structure during mitotic segregation of chromosomes- chromosome condensation and sister chromatid cohesion. The protein encoded by this gene is likely a subunit of the 13S condensin complex, which is involved in chromosome condensation. A pseudogene related to this gene is located on chromosome 2. [provided by RefSeq, Jun 2016].
Gencode Transcript: ENST00000357388.8
Gencode Gene: ENSG00000113810.16
Transcript (Including UTRs)
   Position: hg38 chr3:160,399,650-160,434,953 Size: 35,304 Total Exon Count: 24 Strand: +
Coding Region
   Position: hg38 chr3:160,400,827-160,433,809 Size: 32,983 Coding Exon Count: 23 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:160,399,650-160,434,953)mRNA (may differ from genome)Protein (1288 aa)
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HGNCHPRDLynxMalacardsMGIneXtProt
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-  Comments and Description Text from UniProtKB
  ID: SMC4_HUMAN
DESCRIPTION: RecName: Full=Structural maintenance of chromosomes protein 4; Short=SMC protein 4; Short=SMC-4; AltName: Full=Chromosome-associated polypeptide C; Short=hCAP-C; AltName: Full=XCAP-C homolog;
FUNCTION: Central component of the condensin complex, a complex required for conversion of interphase chromatin into mitotic-like condense chromosomes. The condensin complex probably introduces positive supercoils into relaxed DNA in the presence of type I topoisomerases and converts nicked DNA into positive knotted forms in the presence of type II topoisomerases.
SUBUNIT: Forms a heterodimer with SMC2. Component of the condensin complex, which contains the SMC2 and SMC4 heterodimer, and three non SMC subunits that probably regulate the complex: BRRN1/CAPH, CNAP1/CAPD2 and CAPG.
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Chromosome. Note=In interphase cells, the majority of the condensin complex is found in the cytoplasm, while a minority of the complex is associated with chromatin. A subpopulation of the complex however remains associated with chromosome foci in interphase cells. During mitosis, most of the condensin complex is associated with the chromatin. At the onset of prophase, the regulatory subunits of the complex are phosphorylated by CDC2, leading to condensin's association with chromosome arms and to chromosome condensation. Dissociation from chromosomes is observed in late telophase.
TISSUE SPECIFICITY: Widely expressed. Higher expression in testis, colon, thymus.
DOMAIN: The hinge domain, which separates the large intramolecular coiled coil regions, allows the heterodimerization with SMC2, forming a V-shaped heterodimer (By similarity).
SIMILARITY: Belongs to the SMC family. SMC4 subfamily.

-  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


-  MalaCards Disease Associations
  MalaCards Gene Search: SMC4
Diseases sorted by gene-association score: pleural empyema (6)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 44.75 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 271.27 RPKM



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

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -31.70105-0.302 Picture PostScript Text
3' UTR -272.901144-0.239 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:
PF06470 - SMC proteins Flexible Hinge Domain
PF02463 - RecF/RecN/SMC N terminal domain

ModBase Predicted Comparative 3D Structure on Q9NTJ3
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0046982 protein heterodimerization activity

Biological Process:
GO:0000070 mitotic sister chromatid segregation
GO:0007049 cell cycle
GO:0007076 mitotic chromosome condensation
GO:0010032 meiotic chromosome condensation
GO:0030261 chromosome condensation
GO:0045132 meiotic chromosome segregation
GO:0051276 chromosome organization
GO:0051301 cell division
GO:0051383 kinetochore organization

Cellular Component:
GO:0000796 condensin complex
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005694 chromosome
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0016607 nuclear speck


-  Descriptions from all associated GenBank mRNAs
  AK315070 - Homo sapiens cDNA, FLJ96024.
AK128143 - Homo sapiens cDNA FLJ46264 fis, clone TESTI4026080, highly similar to Structural maintenance of chromosomes 4-like 1 protein.
AB019987 - Homo sapiens hCAP-C mRNA for chromosome-associated polypeptide-C, complete cds.
AL833949 - Homo sapiens mRNA; cDNA DKFZp434N2050 (from clone DKFZp434N2050).
AL136877 - Homo sapiens mRNA; cDNA DKFZp434F205 (from clone DKFZp434F205).
BC146370 - Synthetic construct Homo sapiens clone IMAGE:100015108, MGC:180205 structural maintenance of chromosomes 4 (SMC4) mRNA, encodes complete protein.
BC148796 - Synthetic construct Homo sapiens clone IMAGE:100015924, MGC:183218 structural maintenance of chromosomes 4 (SMC4) mRNA, encodes complete protein.
AB527221 - Synthetic construct DNA, clone: pF1KB7320, Homo sapiens SMC4 gene for structural maintenance of chromosomes 4, without stop codon, in Flexi system.
AF092564 - Homo sapiens chromosome-associated protein-C (hCAP-C) mRNA, partial cds.
AK122939 - Homo sapiens cDNA FLJ16648 fis, clone TESTI4035508, highly similar to Structural maintenance of chromosomes 4-like 1 protein.
BC106033 - Homo sapiens structural maintenance of chromosomes 4, mRNA (cDNA clone IMAGE:4996934), partial cds.
AK002200 - Homo sapiens cDNA FLJ11338 fis, clone PLACE1010720, highly similar to Homo sapiens mRNA for chromosome-associated polypeptide-C.
BC070161 - Homo sapiens structural maintenance of chromosomes 4, mRNA (cDNA clone IMAGE:4252738), partial cds.
AK225437 - Homo sapiens mRNA for SMC4L1 protein variant, clone: HRC12916.
AK307508 - Homo sapiens cDNA, FLJ97456.
BC065259 - Homo sapiens structural maintenance of chromosomes 4, mRNA (cDNA clone IMAGE:6145405), partial cds.
BC001557 - Homo sapiens structural maintenance of chromosomes 4, mRNA (cDNA clone IMAGE:3460137), partial cds.
AK026361 - Homo sapiens cDNA: FLJ22708 fis, clone HSI13291.
JD147046 - Sequence 128070 from Patent EP1572962.
JD322783 - Sequence 303807 from Patent EP1572962.
JD240240 - Sequence 221264 from Patent EP1572962.
JD289413 - Sequence 270437 from Patent EP1572962.
JD193353 - Sequence 174377 from Patent EP1572962.
JD235357 - Sequence 216381 from Patent EP1572962.

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

Protein Q9NTJ3 (Reactome details) participates in the following event(s):

R-HSA-2172666 RB1 binds condensin II
R-HSA-2288097 Condensin II complex binds H4K20me1-containing nucleosomes
R-HSA-2429719 MCPH1 sequesters condensin II
R-HSA-2514854 CDK1 phosphorylates condensin I
R-HSA-2529020 CK2 phosphorylates condensin I subunits
R-HSA-2529015 Dephosphorylation of CK2-modified condensin I
R-HSA-2294600 CDK1 phosphorylates condensin II subunit NCAPD3
R-HSA-2294580 PLK1 hyperphosphorylates Condensin II complex
R-HSA-2294590 PLK1 binds phosphorylated condensin II complex
R-HSA-2299718 Condensation of Prophase Chromosomes
R-HSA-2514853 Condensation of Prometaphase Chromosomes
R-HSA-68875 Mitotic Prophase
R-HSA-68877 Mitotic Prometaphase
R-HSA-68886 M Phase
R-HSA-69278 Cell Cycle (Mitotic)
R-HSA-1640170 Cell Cycle

-  Other Names for This Gene
  Alternate Gene Symbols: A6NLT9, CAPC, D3DNL8, ENST00000357388.1, ENST00000357388.2, ENST00000357388.3, ENST00000357388.4, ENST00000357388.5, ENST00000357388.6, ENST00000357388.7, NM_001002800, O95752, Q8NDL4, Q9NTJ3, Q9UNT9, SMC4L1, SMC4_HUMAN, uc003fdh.1, uc003fdh.2, uc003fdh.3, uc003fdh.4, uc003fdh.5, uc003fdh.6
UCSC ID: ENST00000357388.8
RefSeq Accession: NM_001002800
Protein: Q9NTJ3 (aka SMC4_HUMAN)
CCDS: CCDS3189.1, CCDS75046.1

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