Human Gene PMF1 (ENST00000368277.3_5) from GENCODE V47lift37
  Description: polyamine modulated factor 1, transcript variant 2 (from RefSeq NM_007221.4)
Gencode Transcript: ENST00000368277.3_5
Gencode Gene: ENSG00000160783.19_11
Transcript (Including UTRs)
   Position: hg19 chr1:156,182,798-156,209,833 Size: 27,036 Total Exon Count: 5 Strand: +
Coding Region
   Position: hg19 chr1:156,182,807-156,209,392 Size: 26,586 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:156,182,798-156,209,833)mRNA (may differ from genome)Protein (205 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PMF1_HUMAN
DESCRIPTION: RecName: Full=Polyamine-modulated factor 1; Short=PMF-1;
FUNCTION: Part of the MIS12 complex which is required for normal chromosome alignment and segregation and kinetochore formation during mitosis. May act as a cotranscription partner of NFE2L2 involved in regulation of polyamine-induced transcription of SSAT.
SUBUNIT: Component of the MIS12 complex composed of MIS12, DSN1, NSL1 and PMF1. Interacts with COPS7A. Interacts via its coiled- coil domain with the leucine-zipper domain of NFE2L2. The interaction with NFE2L2 is required for the transcriptional regulation of SSAT.
SUBCELLULAR LOCATION: Nucleus. Chromosome, centromere, kinetochore. Note=Associated with the kinetochore.
TISSUE SPECIFICITY: Highest levels of expression in heart and skeletal muscle, with significant levels expressed in kidney and liver.
INDUCTION: By polyamine analogs in analog-sensitive H157 cells.
SEQUENCE CAUTION: Sequence=AAD50081.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAH10730.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAH10730.1; Type=Frameshift; Positions=75;

-  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.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 23.94 RPKM in Thyroid
Total median expression: 700.05 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
3' UTR -147.70441-0.335 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
IPR007128 - Nnf1

Pfam Domains:
PF03980 - Nnf1

SCOP Domains:
103657 - BAR/IMD domain-like
46785 - "Winged helix" DNA-binding domain
53720 - ALDH-like

ModBase Predicted Comparative 3D Structure on Q6P1K2
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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:0003713 transcription coactivator activity
GO:0005515 protein binding
GO:0043522 leucine zipper domain binding

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0007049 cell cycle
GO:0007059 chromosome segregation
GO:0051301 cell division

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:0005654 nucleoplasm
GO:0005667 transcription factor complex
GO:0005694 chromosome
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0043231 intracellular membrane-bounded organelle


-  Descriptions from all associated GenBank mRNAs
  AK124646 - Homo sapiens cDNA FLJ42655 fis, clone BRACE3045033, moderately similar to Homo sapiens polyamine-modulated factor 1 (PMF1).
AK307287 - Homo sapiens cDNA, FLJ97235.
AK310694 - Homo sapiens cDNA, FLJ17736.
AK290260 - Homo sapiens cDNA FLJ78103 complete cds, highly similar to Homo sapiens polyamine-modulated factor 1, mRNA.
AK022523 - Homo sapiens cDNA FLJ12461 fis, clone NT2RM1000746, highly similar to Homo sapiens polyamine modulated factor-1 (PMF1) mRNA.
AK289490 - Homo sapiens cDNA FLJ78329 complete cds, highly similar to Homo sapiens polyamine-modulated factor 1, mRNA.
BC065031 - Homo sapiens polyamine-modulated factor 1, mRNA (cDNA clone MGC:75061 IMAGE:6148250), complete cds.
BC033656 - Homo sapiens polyamine-modulated factor 1, mRNA (cDNA clone IMAGE:3909927).
CU688008 - Synthetic construct Homo sapiens gateway clone IMAGE:100021605 5' read PMF1 mRNA.
EU832588 - Synthetic construct Homo sapiens clone HAIB:100067617; DKFZo004G0330 polyamine-modulated factor 1 protein (PMF1) gene, encodes complete protein.
KJ898390 - Synthetic construct Homo sapiens clone ccsbBroadEn_07784 PMF1 gene, encodes complete protein.
EU832507 - Synthetic construct Homo sapiens clone HAIB:100067536; DKFZo008G0329 polyamine-modulated factor 1 protein (PMF1) gene, encodes complete protein.
AB464036 - Synthetic construct DNA, clone: pF1KB7581, Homo sapiens PMF1 gene for polyamine-modulated factor 1, without stop codon, in Flexi system.
DQ890582 - Synthetic construct clone IMAGE:100003212; FLH164128.01X; RZPDo839C12162D polyamine-modulated factor 1 (PMF1) gene, encodes complete protein.
DQ893741 - Synthetic construct Homo sapiens clone IMAGE:100008201; FLH164124.01L; RZPDo839C12161D polyamine-modulated factor 1 (PMF1) gene, encodes complete protein.
KJ898389 - Synthetic construct Homo sapiens clone ccsbBroadEn_07783 PMF1 gene, encodes complete protein.
AL080101 - Homo sapiens mRNA; cDNA DKFZp564L0472 (from clone DKFZp564L0472).
BC056417 - Homo sapiens polyamine-modulated factor 1, mRNA (cDNA clone IMAGE:5760174), partial cds.
AF141310 - Homo sapiens polyamine modulated factor-1 (PMF1) mRNA, complete cds.
BC050735 - Homo sapiens polyamine-modulated factor 1, mRNA (cDNA clone IMAGE:6067207), partial cds.
JD171734 - Sequence 152758 from Patent EP1572962.
JD086690 - Sequence 67714 from Patent EP1572962.
JD104424 - Sequence 85448 from Patent EP1572962.
JD136874 - Sequence 117898 from Patent EP1572962.
JD278306 - Sequence 259330 from Patent EP1572962.
JD457707 - Sequence 438731 from Patent EP1572962.
JD067271 - Sequence 48295 from Patent EP1572962.
JD450205 - Sequence 431229 from Patent EP1572962.
JD054722 - Sequence 35746 from Patent EP1572962.
JD400211 - Sequence 381235 from Patent EP1572962.
JD352687 - Sequence 333711 from Patent EP1572962.
JD384321 - Sequence 365345 from Patent EP1572962.
JD115236 - Sequence 96260 from Patent EP1572962.

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

Protein Q6P1K2 (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: A8K0C5, ENST00000368277.1, ENST00000368277.2, NM_007221, PMF1 , PMF1_HUMAN, Q5TCJ8, Q5TCJ9, Q5TCK0, Q5TCK1, Q5TCK3, Q69YZ9, Q6P1K2, Q6PHR4, Q6ZVE6, Q86VJ6, Q8N4T6, Q9UBQ3, uc318gqa.1, uc318gqa.2
UCSC ID: ENST00000368277.3_5
RefSeq Accession: NM_007221.4
Protein: Q6P1K2 (aka PMF1_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.