Human Gene MIS12 (ENST00000611091.5_7) from GENCODE V47lift37
  Description: MIS12 kinetochore complex component, transcript variant 4 (from RefSeq NM_001258219.1)
Gencode Transcript: ENST00000611091.5_7
Gencode Gene: ENSG00000167842.16_10
Transcript (Including UTRs)
   Position: hg19 chr17:5,389,886-5,394,131 Size: 4,246 Total Exon Count: 3 Strand: +
Coding Region
   Position: hg19 chr17:5,392,183-5,392,800 Size: 618 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
Microarray 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 (chr17:5,389,886-5,394,131)mRNA (may differ from genome)Protein (205 aa)
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-  Comments and Description Text from UniProtKB
  ID: MIS12_HUMAN
DESCRIPTION: RecName: Full=Protein MIS12 homolog;
FUNCTION: Part of the MIS12 complex which is required for normal chromosome alignment and segregation and for kinetochore formation during mitosis.
SUBUNIT: Component of the MIS12 complex composed of MIS12, DSN1, NSL1 and PMF1. Also interacts with CASC5, CBX3, CBX5, NDC80 and ZWINT.
SUBCELLULAR LOCATION: Nucleus. Chromosome, centromere, kinetochore. Note=Associated with the kinetochore.
SIMILARITY: Belongs to the mis12 family.
SEQUENCE CAUTION: Sequence=AK056072; Type=Frameshift; Positions=147;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
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           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -149.20553-0.270 Picture PostScript Text
3' UTR -328.701331-0.247 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
IPR008685 - Centromere_Mis12

Pfam Domains:
PF05859 - Mis12 protein

ModBase Predicted Comparative 3D Structure on Q9H081
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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
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0000278 mitotic cell cycle
GO:0007049 cell cycle
GO:0007059 chromosome segregation
GO:0034501 protein localization to kinetochore
GO:0051301 cell division
GO:0051315 attachment of mitotic spindle microtubules to kinetochore
GO:0051382 kinetochore assembly

Cellular Component:
GO:0000444 MIS12/MIND type complex
GO:0000775 chromosome, centromeric region
GO:0000776 kinetochore
GO:0000777 condensed chromosome kinetochore
GO:0000818 nuclear MIS12/MIND complex
GO:0005634 nucleus
GO:0005694 chromosome
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  AK056072 - Homo sapiens cDNA FLJ31510 fis, clone NT2RI1000027.
BC000229 - Homo sapiens MIS12, MIND kinetochore complex component, homolog (yeast), mRNA (cDNA clone MGC:2488 IMAGE:3351245), complete cds.
AK289939 - Homo sapiens cDNA FLJ76754 complete cds, highly similar to Homo sapiens MIS12 homolog (yeast) (MIS12), mRNA.
AL136906 - Homo sapiens mRNA; cDNA DKFZp434I209 (from clone DKFZp434I209).
JD062921 - Sequence 43945 from Patent EP1572962.
JD348969 - Sequence 329993 from Patent EP1572962.
JD043473 - Sequence 24497 from Patent EP1572962.
JD265691 - Sequence 246715 from Patent EP1572962.
JD379567 - Sequence 360591 from Patent EP1572962.
AB528182 - Synthetic construct DNA, clone: pF1KE0401, Homo sapiens MIS12 gene for Protein MIS12 homolog, without stop codon, in Flexi system.
AM392972 - Synthetic construct Homo sapiens clone IMAGE:100001640 for hypothetical protein (MIS12 gene).
AM393558 - Synthetic construct Homo sapiens clone IMAGE:100001646 for hypothetical protein (MIS12 gene).
KJ894625 - Synthetic construct Homo sapiens clone ccsbBroadEn_04019 MIS12 gene, encodes complete protein.
CR533460 - Homo sapiens full open reading frame cDNA clone RZPDo834A0317D for gene MIS12, homolog of yeast Mis12; complete cds, incl. stopcodon.
JD302446 - Sequence 283470 from Patent EP1572962.
JD439094 - Sequence 420118 from Patent EP1572962.
JD284083 - Sequence 265107 from Patent EP1572962.
JD403889 - Sequence 384913 from Patent EP1572962.
JD298667 - Sequence 279691 from Patent EP1572962.
JD291160 - Sequence 272184 from Patent EP1572962.
JD262106 - Sequence 243130 from Patent EP1572962.
JD165261 - Sequence 146285 from Patent EP1572962.
JD542949 - Sequence 523973 from Patent EP1572962.
JD213163 - Sequence 194187 from Patent EP1572962.
JD463144 - Sequence 444168 from Patent EP1572962.
JD533895 - Sequence 514919 from Patent EP1572962.
JD069862 - Sequence 50886 from Patent EP1572962.
JD337285 - Sequence 318309 from Patent EP1572962.
JD470310 - Sequence 451334 from Patent EP1572962.
JD098672 - Sequence 79696 from Patent EP1572962.
JD244350 - Sequence 225374 from Patent EP1572962.
JD066387 - Sequence 47411 from Patent EP1572962.
JD300471 - Sequence 281495 from Patent EP1572962.
JD094306 - Sequence 75330 from Patent EP1572962.

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

Protein Q9H081 (Reactome details) participates in the following event(s):

R-HSA-141409 Mad1 binds kinetochore
R-HSA-375302 Kinetochore capture of astral microtubules
R-HSA-5666129 CDC42:GTP recruits DIAPH2-2 to kinetochores
R-HSA-5666169 Kinetochore capture of astral microtubules is positively regulated by CDC42:GTP:p-S196-DIAPH2-2
R-HSA-141431 MAD2 associates with the Mad1 kinetochore complex
R-HSA-141439 Release of activated MAD2 from kinetochores
R-HSA-2467811 Separation of sister chromatids
R-HSA-2467809 ESPL1 (Separase) cleaves centromeric cohesin
R-HSA-5666160 AURKB phosphorylates DIAPH2-2 at kinetochores
R-HSA-141422 MAD2 converted to an inhibitory state via interaction with Mad1
R-HSA-1638821 PP2A-B56 dephosphorylates centromeric cohesin
R-HSA-1638803 Phosphorylation of cohesin by PLK1 at centromeres
R-HSA-2468287 CDK1 phosphorylates CDCA5 (Sororin) at centromeres
R-HSA-141444 Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
R-HSA-68877 Mitotic Prometaphase
R-HSA-5663220 RHO GTPases Activate Formins
R-HSA-2500257 Resolution of Sister Chromatid Cohesion
R-HSA-2467813 Separation of Sister Chromatids
R-HSA-141424 Amplification of signal from the kinetochores
R-HSA-68886 M Phase
R-HSA-195258 RHO GTPase Effectors
R-HSA-68882 Mitotic Anaphase
R-HSA-69618 Mitotic Spindle Checkpoint
R-HSA-69278 Cell Cycle (Mitotic)
R-HSA-194315 Signaling by Rho GTPases
R-HSA-2555396 Mitotic Metaphase and Anaphase
R-HSA-69620 Cell Cycle Checkpoints
R-HSA-1640170 Cell Cycle
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000611091.1, ENST00000611091.2, ENST00000611091.3, ENST00000611091.4, MIS12 , MIS12_HUMAN, NM_001258219, Q96N24, Q9H081, uc327ndg.1, uc327ndg.2
UCSC ID: ENST00000611091.5_7
RefSeq Accession: NM_001258217.2
Protein: Q9H081 (aka MIS12_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.